Incidental Mutation 'R1702:Cntrl'
ID |
189766 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cntrl
|
Ensembl Gene |
ENSMUSG00000057110 |
Gene Name |
centriolin |
Synonyms |
IB3/5, b2b1468Clo, Cep1, 6720467O09Rik, Ma2a8, Cep110 |
MMRRC Submission |
039735-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.909)
|
Stock # |
R1702 (G1)
|
Quality Score |
149 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
34999504-35068834 bp(+) (GRCm39) |
Type of Mutation |
critical splice acceptor site |
DNA Base Change (assembly) |
A to T
at 35061848 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118731
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028237]
[ENSMUST00000028237]
[ENSMUST00000028237]
[ENSMUST00000113032]
[ENSMUST00000113032]
[ENSMUST00000113032]
[ENSMUST00000113034]
[ENSMUST00000113037]
[ENSMUST00000113037]
[ENSMUST00000113037]
[ENSMUST00000156933]
[ENSMUST00000156933]
[ENSMUST00000156933]
|
AlphaFold |
A2AL36 |
Predicted Effect |
probably null
Transcript: ENSMUST00000028237
|
SMART Domains |
Protein: ENSMUSP00000028237 Gene: ENSMUSG00000057110
Domain | Start | End | E-Value | Type |
low complexity region
|
21 |
38 |
N/A |
INTRINSIC |
LRR
|
146 |
167 |
2.54e1 |
SMART |
LRR
|
168 |
190 |
3.24e0 |
SMART |
LRR
|
192 |
214 |
7.16e0 |
SMART |
Blast:LRR
|
217 |
239 |
8e-6 |
BLAST |
low complexity region
|
275 |
292 |
N/A |
INTRINSIC |
coiled coil region
|
437 |
800 |
N/A |
INTRINSIC |
coiled coil region
|
858 |
971 |
N/A |
INTRINSIC |
low complexity region
|
975 |
995 |
N/A |
INTRINSIC |
coiled coil region
|
998 |
1102 |
N/A |
INTRINSIC |
internal_repeat_1
|
1119 |
1132 |
1.95e-5 |
PROSPERO |
low complexity region
|
1153 |
1161 |
N/A |
INTRINSIC |
low complexity region
|
1268 |
1301 |
N/A |
INTRINSIC |
coiled coil region
|
1320 |
1629 |
N/A |
INTRINSIC |
coiled coil region
|
1661 |
2155 |
N/A |
INTRINSIC |
low complexity region
|
2193 |
2208 |
N/A |
INTRINSIC |
internal_repeat_1
|
2252 |
2265 |
1.95e-5 |
PROSPERO |
low complexity region
|
2289 |
2307 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000028237
|
SMART Domains |
Protein: ENSMUSP00000028237 Gene: ENSMUSG00000057110
Domain | Start | End | E-Value | Type |
low complexity region
|
21 |
38 |
N/A |
INTRINSIC |
LRR
|
146 |
167 |
2.54e1 |
SMART |
LRR
|
168 |
190 |
3.24e0 |
SMART |
LRR
|
192 |
214 |
7.16e0 |
SMART |
Blast:LRR
|
217 |
239 |
8e-6 |
BLAST |
low complexity region
|
275 |
292 |
N/A |
INTRINSIC |
coiled coil region
|
437 |
800 |
N/A |
INTRINSIC |
coiled coil region
|
858 |
971 |
N/A |
INTRINSIC |
low complexity region
|
975 |
995 |
N/A |
INTRINSIC |
coiled coil region
|
998 |
1102 |
N/A |
INTRINSIC |
internal_repeat_1
|
1119 |
1132 |
1.95e-5 |
PROSPERO |
low complexity region
|
1153 |
1161 |
N/A |
INTRINSIC |
low complexity region
|
1268 |
1301 |
N/A |
INTRINSIC |
coiled coil region
|
1320 |
1629 |
N/A |
INTRINSIC |
coiled coil region
|
1661 |
2155 |
N/A |
INTRINSIC |
low complexity region
|
2193 |
2208 |
N/A |
INTRINSIC |
internal_repeat_1
|
2252 |
2265 |
1.95e-5 |
PROSPERO |
low complexity region
|
2289 |
2307 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000028237
|
SMART Domains |
Protein: ENSMUSP00000028237 Gene: ENSMUSG00000057110
Domain | Start | End | E-Value | Type |
low complexity region
|
21 |
38 |
N/A |
INTRINSIC |
LRR
|
146 |
167 |
2.54e1 |
SMART |
LRR
|
168 |
190 |
3.24e0 |
SMART |
LRR
|
192 |
214 |
7.16e0 |
SMART |
Blast:LRR
|
217 |
239 |
8e-6 |
BLAST |
low complexity region
|
275 |
292 |
N/A |
INTRINSIC |
coiled coil region
|
437 |
800 |
N/A |
INTRINSIC |
coiled coil region
|
858 |
971 |
N/A |
INTRINSIC |
low complexity region
|
975 |
995 |
N/A |
INTRINSIC |
coiled coil region
|
998 |
1102 |
N/A |
INTRINSIC |
internal_repeat_1
|
1119 |
1132 |
1.95e-5 |
PROSPERO |
low complexity region
|
1153 |
1161 |
N/A |
INTRINSIC |
low complexity region
|
1268 |
1301 |
N/A |
INTRINSIC |
coiled coil region
|
1320 |
1629 |
N/A |
INTRINSIC |
coiled coil region
|
1661 |
2155 |
N/A |
INTRINSIC |
low complexity region
|
2193 |
2208 |
N/A |
INTRINSIC |
internal_repeat_1
|
2252 |
2265 |
1.95e-5 |
PROSPERO |
low complexity region
|
2289 |
2307 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000113032
|
SMART Domains |
Protein: ENSMUSP00000108655 Gene: ENSMUSG00000057110
Domain | Start | End | E-Value | Type |
low complexity region
|
20 |
53 |
N/A |
INTRINSIC |
coiled coil region
|
72 |
381 |
N/A |
INTRINSIC |
coiled coil region
|
413 |
907 |
N/A |
INTRINSIC |
low complexity region
|
945 |
960 |
N/A |
INTRINSIC |
coiled coil region
|
989 |
1011 |
N/A |
INTRINSIC |
low complexity region
|
1041 |
1059 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000113032
|
SMART Domains |
Protein: ENSMUSP00000108655 Gene: ENSMUSG00000057110
Domain | Start | End | E-Value | Type |
low complexity region
|
20 |
53 |
N/A |
INTRINSIC |
coiled coil region
|
72 |
381 |
N/A |
INTRINSIC |
coiled coil region
|
413 |
907 |
N/A |
INTRINSIC |
low complexity region
|
945 |
960 |
N/A |
INTRINSIC |
coiled coil region
|
989 |
1011 |
N/A |
INTRINSIC |
low complexity region
|
1041 |
1059 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000113032
|
SMART Domains |
Protein: ENSMUSP00000108655 Gene: ENSMUSG00000057110
Domain | Start | End | E-Value | Type |
low complexity region
|
20 |
53 |
N/A |
INTRINSIC |
coiled coil region
|
72 |
381 |
N/A |
INTRINSIC |
coiled coil region
|
413 |
907 |
N/A |
INTRINSIC |
low complexity region
|
945 |
960 |
N/A |
INTRINSIC |
coiled coil region
|
989 |
1011 |
N/A |
INTRINSIC |
low complexity region
|
1041 |
1059 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000113034
|
SMART Domains |
Protein: ENSMUSP00000108657 Gene: ENSMUSG00000057110
Domain | Start | End | E-Value | Type |
coiled coil region
|
1 |
247 |
N/A |
INTRINSIC |
internal_repeat_3
|
261 |
278 |
5.68e-5 |
PROSPERO |
coiled coil region
|
305 |
418 |
N/A |
INTRINSIC |
low complexity region
|
422 |
442 |
N/A |
INTRINSIC |
coiled coil region
|
445 |
549 |
N/A |
INTRINSIC |
internal_repeat_1
|
566 |
579 |
1.52e-6 |
PROSPERO |
internal_repeat_2
|
568 |
596 |
2.75e-5 |
PROSPERO |
low complexity region
|
600 |
608 |
N/A |
INTRINSIC |
internal_repeat_2
|
626 |
653 |
2.75e-5 |
PROSPERO |
low complexity region
|
715 |
748 |
N/A |
INTRINSIC |
coiled coil region
|
767 |
1076 |
N/A |
INTRINSIC |
internal_repeat_3
|
1095 |
1112 |
5.68e-5 |
PROSPERO |
low complexity region
|
1184 |
1224 |
N/A |
INTRINSIC |
low complexity region
|
1344 |
1356 |
N/A |
INTRINSIC |
low complexity region
|
1366 |
1388 |
N/A |
INTRINSIC |
low complexity region
|
1400 |
1415 |
N/A |
INTRINSIC |
low complexity region
|
1421 |
1432 |
N/A |
INTRINSIC |
low complexity region
|
1640 |
1655 |
N/A |
INTRINSIC |
internal_repeat_1
|
1699 |
1712 |
1.52e-6 |
PROSPERO |
low complexity region
|
1736 |
1754 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000113037
|
SMART Domains |
Protein: ENSMUSP00000108660 Gene: ENSMUSG00000057110
Domain | Start | End | E-Value | Type |
coiled coil region
|
1 |
247 |
N/A |
INTRINSIC |
internal_repeat_3
|
261 |
278 |
5.34e-5 |
PROSPERO |
coiled coil region
|
305 |
548 |
N/A |
INTRINSIC |
internal_repeat_1
|
565 |
578 |
1.42e-6 |
PROSPERO |
internal_repeat_2
|
567 |
595 |
2.58e-5 |
PROSPERO |
low complexity region
|
599 |
607 |
N/A |
INTRINSIC |
internal_repeat_2
|
625 |
652 |
2.58e-5 |
PROSPERO |
low complexity region
|
714 |
747 |
N/A |
INTRINSIC |
coiled coil region
|
766 |
1075 |
N/A |
INTRINSIC |
internal_repeat_3
|
1094 |
1111 |
5.34e-5 |
PROSPERO |
low complexity region
|
1183 |
1223 |
N/A |
INTRINSIC |
low complexity region
|
1343 |
1355 |
N/A |
INTRINSIC |
low complexity region
|
1365 |
1387 |
N/A |
INTRINSIC |
low complexity region
|
1399 |
1414 |
N/A |
INTRINSIC |
low complexity region
|
1420 |
1431 |
N/A |
INTRINSIC |
low complexity region
|
1639 |
1654 |
N/A |
INTRINSIC |
internal_repeat_1
|
1698 |
1711 |
1.42e-6 |
PROSPERO |
low complexity region
|
1735 |
1753 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000113037
|
SMART Domains |
Protein: ENSMUSP00000108660 Gene: ENSMUSG00000057110
Domain | Start | End | E-Value | Type |
coiled coil region
|
1 |
247 |
N/A |
INTRINSIC |
internal_repeat_3
|
261 |
278 |
5.34e-5 |
PROSPERO |
coiled coil region
|
305 |
548 |
N/A |
INTRINSIC |
internal_repeat_1
|
565 |
578 |
1.42e-6 |
PROSPERO |
internal_repeat_2
|
567 |
595 |
2.58e-5 |
PROSPERO |
low complexity region
|
599 |
607 |
N/A |
INTRINSIC |
internal_repeat_2
|
625 |
652 |
2.58e-5 |
PROSPERO |
low complexity region
|
714 |
747 |
N/A |
INTRINSIC |
coiled coil region
|
766 |
1075 |
N/A |
INTRINSIC |
internal_repeat_3
|
1094 |
1111 |
5.34e-5 |
PROSPERO |
low complexity region
|
1183 |
1223 |
N/A |
INTRINSIC |
low complexity region
|
1343 |
1355 |
N/A |
INTRINSIC |
low complexity region
|
1365 |
1387 |
N/A |
INTRINSIC |
low complexity region
|
1399 |
1414 |
N/A |
INTRINSIC |
low complexity region
|
1420 |
1431 |
N/A |
INTRINSIC |
low complexity region
|
1639 |
1654 |
N/A |
INTRINSIC |
internal_repeat_1
|
1698 |
1711 |
1.42e-6 |
PROSPERO |
low complexity region
|
1735 |
1753 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000113037
|
SMART Domains |
Protein: ENSMUSP00000108660 Gene: ENSMUSG00000057110
Domain | Start | End | E-Value | Type |
coiled coil region
|
1 |
247 |
N/A |
INTRINSIC |
internal_repeat_3
|
261 |
278 |
5.34e-5 |
PROSPERO |
coiled coil region
|
305 |
548 |
N/A |
INTRINSIC |
internal_repeat_1
|
565 |
578 |
1.42e-6 |
PROSPERO |
internal_repeat_2
|
567 |
595 |
2.58e-5 |
PROSPERO |
low complexity region
|
599 |
607 |
N/A |
INTRINSIC |
internal_repeat_2
|
625 |
652 |
2.58e-5 |
PROSPERO |
low complexity region
|
714 |
747 |
N/A |
INTRINSIC |
coiled coil region
|
766 |
1075 |
N/A |
INTRINSIC |
internal_repeat_3
|
1094 |
1111 |
5.34e-5 |
PROSPERO |
low complexity region
|
1183 |
1223 |
N/A |
INTRINSIC |
low complexity region
|
1343 |
1355 |
N/A |
INTRINSIC |
low complexity region
|
1365 |
1387 |
N/A |
INTRINSIC |
low complexity region
|
1399 |
1414 |
N/A |
INTRINSIC |
low complexity region
|
1420 |
1431 |
N/A |
INTRINSIC |
low complexity region
|
1639 |
1654 |
N/A |
INTRINSIC |
internal_repeat_1
|
1698 |
1711 |
1.42e-6 |
PROSPERO |
low complexity region
|
1735 |
1753 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000136047
|
SMART Domains |
Protein: ENSMUSP00000123185 Gene: ENSMUSG00000057110
Domain | Start | End | E-Value | Type |
coiled coil region
|
6 |
171 |
N/A |
INTRINSIC |
coiled coil region
|
203 |
697 |
N/A |
INTRINSIC |
low complexity region
|
735 |
750 |
N/A |
INTRINSIC |
coiled coil region
|
779 |
801 |
N/A |
INTRINSIC |
low complexity region
|
831 |
849 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000142757
|
SMART Domains |
Protein: ENSMUSP00000123300 Gene: ENSMUSG00000057110
Domain | Start | End | E-Value | Type |
coiled coil region
|
6 |
171 |
N/A |
INTRINSIC |
coiled coil region
|
203 |
697 |
N/A |
INTRINSIC |
low complexity region
|
735 |
750 |
N/A |
INTRINSIC |
coiled coil region
|
779 |
801 |
N/A |
INTRINSIC |
low complexity region
|
831 |
849 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143807
|
Predicted Effect |
probably null
Transcript: ENSMUST00000156933
|
SMART Domains |
Protein: ENSMUSP00000118731 Gene: ENSMUSG00000057110
Domain | Start | End | E-Value | Type |
low complexity region
|
21 |
38 |
N/A |
INTRINSIC |
LRR
|
146 |
167 |
2.54e1 |
SMART |
LRR
|
168 |
190 |
3.24e0 |
SMART |
LRR
|
192 |
214 |
7.16e0 |
SMART |
Blast:LRR
|
217 |
239 |
7e-6 |
BLAST |
low complexity region
|
275 |
292 |
N/A |
INTRINSIC |
coiled coil region
|
437 |
800 |
N/A |
INTRINSIC |
coiled coil region
|
858 |
971 |
N/A |
INTRINSIC |
low complexity region
|
975 |
995 |
N/A |
INTRINSIC |
coiled coil region
|
998 |
1102 |
N/A |
INTRINSIC |
internal_repeat_1
|
1119 |
1132 |
1.65e-5 |
PROSPERO |
low complexity region
|
1153 |
1161 |
N/A |
INTRINSIC |
low complexity region
|
1268 |
1301 |
N/A |
INTRINSIC |
coiled coil region
|
1320 |
1629 |
N/A |
INTRINSIC |
coiled coil region
|
1661 |
2155 |
N/A |
INTRINSIC |
low complexity region
|
2193 |
2208 |
N/A |
INTRINSIC |
internal_repeat_1
|
2252 |
2265 |
1.65e-5 |
PROSPERO |
low complexity region
|
2289 |
2307 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000156933
|
SMART Domains |
Protein: ENSMUSP00000118731 Gene: ENSMUSG00000057110
Domain | Start | End | E-Value | Type |
low complexity region
|
21 |
38 |
N/A |
INTRINSIC |
LRR
|
146 |
167 |
2.54e1 |
SMART |
LRR
|
168 |
190 |
3.24e0 |
SMART |
LRR
|
192 |
214 |
7.16e0 |
SMART |
Blast:LRR
|
217 |
239 |
7e-6 |
BLAST |
low complexity region
|
275 |
292 |
N/A |
INTRINSIC |
coiled coil region
|
437 |
800 |
N/A |
INTRINSIC |
coiled coil region
|
858 |
971 |
N/A |
INTRINSIC |
low complexity region
|
975 |
995 |
N/A |
INTRINSIC |
coiled coil region
|
998 |
1102 |
N/A |
INTRINSIC |
internal_repeat_1
|
1119 |
1132 |
1.65e-5 |
PROSPERO |
low complexity region
|
1153 |
1161 |
N/A |
INTRINSIC |
low complexity region
|
1268 |
1301 |
N/A |
INTRINSIC |
coiled coil region
|
1320 |
1629 |
N/A |
INTRINSIC |
coiled coil region
|
1661 |
2155 |
N/A |
INTRINSIC |
low complexity region
|
2193 |
2208 |
N/A |
INTRINSIC |
internal_repeat_1
|
2252 |
2265 |
1.65e-5 |
PROSPERO |
low complexity region
|
2289 |
2307 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000156933
|
SMART Domains |
Protein: ENSMUSP00000118731 Gene: ENSMUSG00000057110
Domain | Start | End | E-Value | Type |
low complexity region
|
21 |
38 |
N/A |
INTRINSIC |
LRR
|
146 |
167 |
2.54e1 |
SMART |
LRR
|
168 |
190 |
3.24e0 |
SMART |
LRR
|
192 |
214 |
7.16e0 |
SMART |
Blast:LRR
|
217 |
239 |
7e-6 |
BLAST |
low complexity region
|
275 |
292 |
N/A |
INTRINSIC |
coiled coil region
|
437 |
800 |
N/A |
INTRINSIC |
coiled coil region
|
858 |
971 |
N/A |
INTRINSIC |
low complexity region
|
975 |
995 |
N/A |
INTRINSIC |
coiled coil region
|
998 |
1102 |
N/A |
INTRINSIC |
internal_repeat_1
|
1119 |
1132 |
1.65e-5 |
PROSPERO |
low complexity region
|
1153 |
1161 |
N/A |
INTRINSIC |
low complexity region
|
1268 |
1301 |
N/A |
INTRINSIC |
coiled coil region
|
1320 |
1629 |
N/A |
INTRINSIC |
coiled coil region
|
1661 |
2155 |
N/A |
INTRINSIC |
low complexity region
|
2193 |
2208 |
N/A |
INTRINSIC |
internal_repeat_1
|
2252 |
2265 |
1.65e-5 |
PROSPERO |
low complexity region
|
2289 |
2307 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 96.9%
- 20x: 94.5%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a centrosomal protein required for the centrosome to function as a microtubule organizing center. The gene product is also associated with centrosome maturation. One version of stem cell myeloproliferative disorder is the result of a reciprocal translocation between chromosomes 8 and 9, with the breakpoint associated with fibroblast growth factor receptor 1 and centrosomal protein 1. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit cardiac defects, including double outlet right ventricle, atrial septal defects, ventricular septal defects, tricuspid valve stenosis and heart right ventricle hypoplasia, and develop kidney cysts and hydronephrosis. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca15 |
T |
C |
7: 119,981,925 (GRCm39) |
V1080A |
probably benign |
Het |
Abcg4 |
A |
C |
9: 44,186,370 (GRCm39) |
V553G |
probably damaging |
Het |
Ache |
T |
C |
5: 137,289,251 (GRCm39) |
V319A |
possibly damaging |
Het |
Acsm2 |
T |
A |
7: 119,172,787 (GRCm39) |
M134K |
possibly damaging |
Het |
Ank2 |
A |
T |
3: 126,749,548 (GRCm39) |
S494T |
probably benign |
Het |
Asic3 |
A |
T |
5: 24,620,454 (GRCm39) |
T202S |
probably damaging |
Het |
Baiap3 |
T |
A |
17: 25,463,779 (GRCm39) |
H886L |
probably damaging |
Het |
Bltp2 |
T |
A |
11: 78,179,854 (GRCm39) |
C2126S |
probably damaging |
Het |
Cidea |
T |
A |
18: 67,499,491 (GRCm39) |
I126K |
probably damaging |
Het |
Cmklr1 |
T |
G |
5: 113,751,903 (GRCm39) |
K366T |
probably benign |
Het |
Crhr2 |
A |
G |
6: 55,069,520 (GRCm39) |
F378S |
probably damaging |
Het |
Deaf1 |
C |
G |
7: 140,894,867 (GRCm39) |
R303T |
probably damaging |
Het |
Dnah9 |
T |
A |
11: 65,976,021 (GRCm39) |
N1343Y |
possibly damaging |
Het |
Dop1b |
A |
G |
16: 93,544,509 (GRCm39) |
K99E |
possibly damaging |
Het |
Dpp4 |
A |
T |
2: 62,216,773 (GRCm39) |
|
probably null |
Het |
Dst |
T |
C |
1: 34,206,421 (GRCm39) |
V598A |
probably damaging |
Het |
Ece2 |
C |
T |
16: 20,449,996 (GRCm39) |
R136C |
probably damaging |
Het |
Efcab3 |
C |
T |
11: 104,581,832 (GRCm39) |
P58L |
probably benign |
Het |
Egf |
C |
A |
3: 129,484,460 (GRCm39) |
V453L |
probably benign |
Het |
Egr3 |
T |
A |
14: 70,317,216 (GRCm39) |
F342L |
probably damaging |
Het |
Eif2ak2 |
A |
T |
17: 79,164,063 (GRCm39) |
I434N |
probably damaging |
Het |
Emc1 |
A |
G |
4: 139,102,512 (GRCm39) |
T936A |
probably damaging |
Het |
Fmod |
A |
T |
1: 133,968,500 (GRCm39) |
E180V |
probably damaging |
Het |
Gabrg3 |
T |
C |
7: 56,634,848 (GRCm39) |
T112A |
probably damaging |
Het |
Gak |
T |
C |
5: 108,754,242 (GRCm39) |
|
probably null |
Het |
Gas2 |
T |
A |
7: 51,603,089 (GRCm39) |
|
probably null |
Het |
Gm2381 |
T |
A |
7: 42,469,655 (GRCm39) |
Q156H |
probably benign |
Het |
Golga2 |
T |
A |
2: 32,189,287 (GRCm39) |
S273T |
probably damaging |
Het |
Homez |
T |
A |
14: 55,094,452 (GRCm39) |
T419S |
probably damaging |
Het |
Igfbp6 |
T |
A |
15: 102,056,617 (GRCm39) |
Y184* |
probably null |
Het |
Il11 |
A |
G |
7: 4,776,733 (GRCm39) |
S86P |
probably damaging |
Het |
Itgal |
A |
G |
7: 126,904,197 (GRCm39) |
N270S |
probably benign |
Het |
Lama2 |
T |
C |
10: 27,066,525 (GRCm39) |
R1119G |
probably benign |
Het |
Lamp3 |
G |
T |
16: 19,494,822 (GRCm39) |
N294K |
probably benign |
Het |
Mars1 |
T |
C |
10: 127,145,948 (GRCm39) |
I113M |
possibly damaging |
Het |
Mgat5b |
A |
G |
11: 116,839,485 (GRCm39) |
T334A |
possibly damaging |
Het |
Mis18bp1 |
A |
G |
12: 65,208,518 (GRCm39) |
I65T |
probably benign |
Het |
Mmrn2 |
A |
T |
14: 34,119,871 (GRCm39) |
N247I |
probably benign |
Het |
Muc6 |
G |
T |
7: 141,236,752 (GRCm39) |
N322K |
probably damaging |
Het |
Mx2 |
A |
G |
16: 97,359,883 (GRCm39) |
H551R |
probably benign |
Het |
Mylk |
T |
A |
16: 34,742,314 (GRCm39) |
V942E |
probably benign |
Het |
Nes |
A |
G |
3: 87,883,286 (GRCm39) |
E515G |
probably benign |
Het |
Nfatc3 |
T |
G |
8: 106,818,792 (GRCm39) |
S503R |
probably damaging |
Het |
Nkain3 |
C |
A |
4: 20,158,339 (GRCm39) |
|
probably null |
Het |
Noxa1 |
A |
G |
2: 24,982,596 (GRCm39) |
V73A |
probably damaging |
Het |
Nup160 |
A |
T |
2: 90,514,302 (GRCm39) |
E83D |
probably damaging |
Het |
Or12j3 |
A |
T |
7: 139,952,655 (GRCm39) |
Y289* |
probably null |
Het |
Or4z4 |
C |
A |
19: 12,076,530 (GRCm39) |
V158L |
probably benign |
Het |
Or5ac23 |
C |
A |
16: 59,149,504 (GRCm39) |
V123L |
probably benign |
Het |
Or8b56 |
A |
G |
9: 38,739,839 (GRCm39) |
Y284C |
probably damaging |
Het |
Plxnb2 |
A |
G |
15: 89,046,187 (GRCm39) |
|
probably null |
Het |
Rundc3b |
A |
G |
5: 8,562,318 (GRCm39) |
V350A |
probably benign |
Het |
Scn1a |
C |
T |
2: 66,148,567 (GRCm39) |
D993N |
probably damaging |
Het |
Sec24c |
G |
T |
14: 20,736,641 (GRCm39) |
G226V |
probably null |
Het |
Septin11 |
T |
A |
5: 93,304,783 (GRCm39) |
I200N |
probably damaging |
Het |
Shank3 |
G |
T |
15: 89,384,099 (GRCm39) |
G14C |
probably damaging |
Het |
Skic3 |
A |
G |
13: 76,270,862 (GRCm39) |
K153R |
possibly damaging |
Het |
Slc25a39 |
T |
C |
11: 102,297,452 (GRCm39) |
D5G |
possibly damaging |
Het |
Stoml3 |
A |
T |
3: 53,412,852 (GRCm39) |
T169S |
probably benign |
Het |
Taf1b |
T |
A |
12: 24,559,125 (GRCm39) |
I83K |
possibly damaging |
Het |
Tarbp1 |
T |
A |
8: 127,154,957 (GRCm39) |
Q1389L |
probably damaging |
Het |
Thbs1 |
T |
A |
2: 117,943,923 (GRCm39) |
D180E |
probably benign |
Het |
Tmc5 |
T |
A |
7: 118,271,462 (GRCm39) |
V925D |
probably benign |
Het |
Tmem62 |
T |
C |
2: 120,809,708 (GRCm39) |
V130A |
probably damaging |
Het |
Tpp2 |
C |
T |
1: 44,029,708 (GRCm39) |
P997L |
probably damaging |
Het |
Trip12 |
A |
T |
1: 84,722,784 (GRCm39) |
I127N |
probably damaging |
Het |
Upp2 |
T |
C |
2: 58,661,562 (GRCm39) |
F142L |
possibly damaging |
Het |
Usf3 |
C |
T |
16: 44,039,995 (GRCm39) |
Q1492* |
probably null |
Het |
Vcp |
T |
C |
4: 42,990,840 (GRCm39) |
D205G |
probably damaging |
Het |
Vmn1r180 |
G |
A |
7: 23,652,394 (GRCm39) |
V186I |
possibly damaging |
Het |
Washc2 |
T |
C |
6: 116,206,267 (GRCm39) |
S496P |
probably damaging |
Het |
Wee2 |
T |
C |
6: 40,441,135 (GRCm39) |
I480T |
probably benign |
Het |
Xylt2 |
T |
A |
11: 94,559,571 (GRCm39) |
H357L |
probably damaging |
Het |
Zbed4 |
T |
C |
15: 88,665,056 (GRCm39) |
S375P |
probably damaging |
Het |
Zfp442 |
A |
T |
2: 150,251,100 (GRCm39) |
Y266* |
probably null |
Het |
Zfp600 |
A |
G |
4: 146,133,497 (GRCm39) |
T722A |
probably benign |
Het |
Zfp976 |
T |
A |
7: 42,265,424 (GRCm39) |
H55L |
possibly damaging |
Het |
|
Other mutations in Cntrl |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00392:Cntrl
|
APN |
2 |
35,027,826 (GRCm39) |
splice site |
probably benign |
|
IGL00478:Cntrl
|
APN |
2 |
35,050,613 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01460:Cntrl
|
APN |
2 |
35,055,856 (GRCm39) |
missense |
probably benign |
0.04 |
IGL01556:Cntrl
|
APN |
2 |
35,063,071 (GRCm39) |
missense |
probably benign |
0.19 |
IGL02155:Cntrl
|
APN |
2 |
35,050,250 (GRCm39) |
splice site |
probably benign |
|
IGL02419:Cntrl
|
APN |
2 |
35,024,055 (GRCm39) |
missense |
probably damaging |
0.97 |
PIT4480001:Cntrl
|
UTSW |
2 |
35,045,440 (GRCm39) |
missense |
probably damaging |
0.96 |
R0179:Cntrl
|
UTSW |
2 |
35,057,871 (GRCm39) |
missense |
probably benign |
0.00 |
R0276:Cntrl
|
UTSW |
2 |
35,041,744 (GRCm39) |
missense |
possibly damaging |
0.62 |
R0471:Cntrl
|
UTSW |
2 |
35,017,392 (GRCm39) |
missense |
probably benign |
0.41 |
R0755:Cntrl
|
UTSW |
2 |
35,035,151 (GRCm39) |
missense |
probably damaging |
1.00 |
R0763:Cntrl
|
UTSW |
2 |
35,061,078 (GRCm39) |
missense |
probably benign |
|
R0781:Cntrl
|
UTSW |
2 |
35,050,639 (GRCm39) |
missense |
possibly damaging |
0.66 |
R0791:Cntrl
|
UTSW |
2 |
35,045,291 (GRCm39) |
missense |
possibly damaging |
0.83 |
R0792:Cntrl
|
UTSW |
2 |
35,045,291 (GRCm39) |
missense |
possibly damaging |
0.83 |
R0801:Cntrl
|
UTSW |
2 |
35,065,107 (GRCm39) |
splice site |
probably benign |
|
R1067:Cntrl
|
UTSW |
2 |
35,039,034 (GRCm39) |
unclassified |
probably benign |
|
R1110:Cntrl
|
UTSW |
2 |
35,050,639 (GRCm39) |
missense |
possibly damaging |
0.66 |
R1117:Cntrl
|
UTSW |
2 |
35,017,985 (GRCm39) |
missense |
probably damaging |
1.00 |
R1457:Cntrl
|
UTSW |
2 |
35,012,768 (GRCm39) |
missense |
probably benign |
0.00 |
R1472:Cntrl
|
UTSW |
2 |
35,059,329 (GRCm39) |
critical splice donor site |
probably null |
|
R1522:Cntrl
|
UTSW |
2 |
35,045,291 (GRCm39) |
missense |
possibly damaging |
0.83 |
R1762:Cntrl
|
UTSW |
2 |
35,012,818 (GRCm39) |
frame shift |
probably null |
|
R1785:Cntrl
|
UTSW |
2 |
35,012,818 (GRCm39) |
frame shift |
probably null |
|
R1786:Cntrl
|
UTSW |
2 |
35,012,818 (GRCm39) |
frame shift |
probably null |
|
R1812:Cntrl
|
UTSW |
2 |
35,039,481 (GRCm39) |
missense |
probably damaging |
0.97 |
R1854:Cntrl
|
UTSW |
2 |
35,012,696 (GRCm39) |
missense |
probably damaging |
1.00 |
R1863:Cntrl
|
UTSW |
2 |
35,008,131 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1868:Cntrl
|
UTSW |
2 |
35,019,827 (GRCm39) |
missense |
probably benign |
0.03 |
R1914:Cntrl
|
UTSW |
2 |
35,052,873 (GRCm39) |
missense |
probably benign |
0.00 |
R1915:Cntrl
|
UTSW |
2 |
35,052,873 (GRCm39) |
missense |
probably benign |
0.00 |
R2049:Cntrl
|
UTSW |
2 |
35,012,818 (GRCm39) |
frame shift |
probably null |
|
R2118:Cntrl
|
UTSW |
2 |
35,051,977 (GRCm39) |
missense |
probably benign |
0.31 |
R2140:Cntrl
|
UTSW |
2 |
35,012,818 (GRCm39) |
frame shift |
probably null |
|
R2142:Cntrl
|
UTSW |
2 |
35,012,818 (GRCm39) |
frame shift |
probably null |
|
R2203:Cntrl
|
UTSW |
2 |
35,033,749 (GRCm39) |
missense |
possibly damaging |
0.84 |
R2300:Cntrl
|
UTSW |
2 |
35,017,525 (GRCm39) |
missense |
probably benign |
0.00 |
R2349:Cntrl
|
UTSW |
2 |
35,066,263 (GRCm39) |
missense |
probably benign |
0.18 |
R2374:Cntrl
|
UTSW |
2 |
35,043,288 (GRCm39) |
missense |
possibly damaging |
0.46 |
R3429:Cntrl
|
UTSW |
2 |
35,035,112 (GRCm39) |
missense |
probably damaging |
1.00 |
R3890:Cntrl
|
UTSW |
2 |
35,060,492 (GRCm39) |
missense |
probably benign |
0.02 |
R3911:Cntrl
|
UTSW |
2 |
35,010,061 (GRCm39) |
missense |
probably damaging |
1.00 |
R3922:Cntrl
|
UTSW |
2 |
35,019,751 (GRCm39) |
missense |
probably damaging |
0.98 |
R4081:Cntrl
|
UTSW |
2 |
35,065,137 (GRCm39) |
missense |
probably damaging |
1.00 |
R4081:Cntrl
|
UTSW |
2 |
35,051,938 (GRCm39) |
splice site |
probably benign |
|
R4516:Cntrl
|
UTSW |
2 |
35,017,993 (GRCm39) |
missense |
probably benign |
0.00 |
R4518:Cntrl
|
UTSW |
2 |
35,038,986 (GRCm39) |
missense |
probably damaging |
1.00 |
R4519:Cntrl
|
UTSW |
2 |
35,063,123 (GRCm39) |
missense |
probably damaging |
1.00 |
R4646:Cntrl
|
UTSW |
2 |
35,039,473 (GRCm39) |
missense |
probably damaging |
0.99 |
R4753:Cntrl
|
UTSW |
2 |
35,043,451 (GRCm39) |
missense |
possibly damaging |
0.90 |
R4763:Cntrl
|
UTSW |
2 |
35,065,563 (GRCm39) |
missense |
probably damaging |
1.00 |
R4916:Cntrl
|
UTSW |
2 |
35,055,694 (GRCm39) |
missense |
probably benign |
0.42 |
R5168:Cntrl
|
UTSW |
2 |
35,047,667 (GRCm39) |
missense |
probably damaging |
1.00 |
R5291:Cntrl
|
UTSW |
2 |
35,024,072 (GRCm39) |
missense |
probably damaging |
1.00 |
R5356:Cntrl
|
UTSW |
2 |
35,038,911 (GRCm39) |
nonsense |
probably null |
|
R5774:Cntrl
|
UTSW |
2 |
35,052,873 (GRCm39) |
missense |
probably benign |
0.15 |
R5947:Cntrl
|
UTSW |
2 |
35,006,691 (GRCm39) |
missense |
probably damaging |
1.00 |
R6144:Cntrl
|
UTSW |
2 |
35,055,745 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6147:Cntrl
|
UTSW |
2 |
35,055,745 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6214:Cntrl
|
UTSW |
2 |
35,019,646 (GRCm39) |
missense |
probably benign |
0.10 |
R6267:Cntrl
|
UTSW |
2 |
35,019,805 (GRCm39) |
missense |
probably damaging |
1.00 |
R6332:Cntrl
|
UTSW |
2 |
35,018,036 (GRCm39) |
missense |
possibly damaging |
0.78 |
R6445:Cntrl
|
UTSW |
2 |
35,052,860 (GRCm39) |
missense |
probably benign |
0.05 |
R6487:Cntrl
|
UTSW |
2 |
35,012,694 (GRCm39) |
missense |
possibly damaging |
0.89 |
R6497:Cntrl
|
UTSW |
2 |
35,025,584 (GRCm39) |
missense |
possibly damaging |
0.66 |
R6782:Cntrl
|
UTSW |
2 |
35,060,658 (GRCm39) |
missense |
possibly damaging |
0.75 |
R6815:Cntrl
|
UTSW |
2 |
35,039,503 (GRCm39) |
missense |
probably damaging |
1.00 |
R6853:Cntrl
|
UTSW |
2 |
35,019,833 (GRCm39) |
missense |
possibly damaging |
0.87 |
R6858:Cntrl
|
UTSW |
2 |
35,052,107 (GRCm39) |
critical splice donor site |
probably null |
|
R6965:Cntrl
|
UTSW |
2 |
35,052,845 (GRCm39) |
missense |
probably benign |
0.20 |
R6970:Cntrl
|
UTSW |
2 |
35,008,149 (GRCm39) |
missense |
probably benign |
|
R7085:Cntrl
|
UTSW |
2 |
35,055,804 (GRCm39) |
missense |
probably benign |
0.00 |
R7150:Cntrl
|
UTSW |
2 |
35,055,457 (GRCm39) |
critical splice acceptor site |
probably null |
|
R7213:Cntrl
|
UTSW |
2 |
35,025,692 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7221:Cntrl
|
UTSW |
2 |
35,041,869 (GRCm39) |
missense |
possibly damaging |
0.46 |
R7389:Cntrl
|
UTSW |
2 |
35,017,529 (GRCm39) |
missense |
probably benign |
0.01 |
R7414:Cntrl
|
UTSW |
2 |
35,055,479 (GRCm39) |
missense |
probably benign |
0.02 |
R7427:Cntrl
|
UTSW |
2 |
35,060,546 (GRCm39) |
missense |
probably benign |
0.00 |
R7428:Cntrl
|
UTSW |
2 |
35,060,546 (GRCm39) |
missense |
probably benign |
0.00 |
R7453:Cntrl
|
UTSW |
2 |
35,045,421 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7747:Cntrl
|
UTSW |
2 |
35,006,810 (GRCm39) |
missense |
probably damaging |
1.00 |
R7753:Cntrl
|
UTSW |
2 |
35,001,691 (GRCm39) |
missense |
probably damaging |
1.00 |
R7811:Cntrl
|
UTSW |
2 |
35,052,873 (GRCm39) |
missense |
probably benign |
0.00 |
R7882:Cntrl
|
UTSW |
2 |
35,060,592 (GRCm39) |
missense |
probably benign |
0.41 |
R7919:Cntrl
|
UTSW |
2 |
35,017,413 (GRCm39) |
missense |
probably benign |
|
R8314:Cntrl
|
UTSW |
2 |
35,065,155 (GRCm39) |
missense |
probably benign |
0.00 |
R8332:Cntrl
|
UTSW |
2 |
35,016,037 (GRCm39) |
missense |
probably damaging |
1.00 |
R8681:Cntrl
|
UTSW |
2 |
35,038,600 (GRCm39) |
missense |
probably damaging |
1.00 |
R8698:Cntrl
|
UTSW |
2 |
35,023,974 (GRCm39) |
missense |
probably damaging |
0.98 |
R8717:Cntrl
|
UTSW |
2 |
35,003,351 (GRCm39) |
missense |
probably benign |
0.40 |
R8960:Cntrl
|
UTSW |
2 |
35,052,053 (GRCm39) |
missense |
possibly damaging |
0.89 |
R9036:Cntrl
|
UTSW |
2 |
35,016,071 (GRCm39) |
missense |
probably damaging |
1.00 |
R9617:Cntrl
|
UTSW |
2 |
35,035,077 (GRCm39) |
missense |
probably benign |
0.00 |
R9621:Cntrl
|
UTSW |
2 |
35,050,278 (GRCm39) |
missense |
probably damaging |
0.96 |
RF007:Cntrl
|
UTSW |
2 |
35,060,512 (GRCm39) |
missense |
probably benign |
|
RF016:Cntrl
|
UTSW |
2 |
35,009,998 (GRCm39) |
missense |
probably benign |
|
RF017:Cntrl
|
UTSW |
2 |
35,065,201 (GRCm39) |
missense |
probably damaging |
0.96 |
X0024:Cntrl
|
UTSW |
2 |
35,037,308 (GRCm39) |
missense |
probably damaging |
1.00 |
X0026:Cntrl
|
UTSW |
2 |
35,039,528 (GRCm39) |
missense |
probably damaging |
1.00 |
X0027:Cntrl
|
UTSW |
2 |
35,055,694 (GRCm39) |
missense |
probably benign |
0.08 |
X0027:Cntrl
|
UTSW |
2 |
35,047,780 (GRCm39) |
missense |
probably damaging |
1.00 |
X0028:Cntrl
|
UTSW |
2 |
35,037,356 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
Predicted Primers |
PCR Primer
(F):5'- AACACAGTGTCAGCAGCCGAAG -3'
(R):5'- TGCATGTGTCAAGTCGGGTAAACG -3'
Sequencing Primer
(F):5'- GCGAAACTTTCTTGAGCCTG -3'
(R):5'- AACACTCACCAGGAGGTTTTTC -3'
|
Posted On |
2014-05-14 |