Incidental Mutation 'R0471:Cntrl'
ID |
46734 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cntrl
|
Ensembl Gene |
ENSMUSG00000057110 |
Gene Name |
centriolin |
Synonyms |
IB3/5, b2b1468Clo, Cep1, 6720467O09Rik, Ma2a8, Cep110 |
MMRRC Submission |
038671-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.909)
|
Stock # |
R0471 (G1)
|
Quality Score |
222 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
34999504-35068834 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 35017392 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 400
(T400A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118731
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028235]
[ENSMUST00000028237]
[ENSMUST00000113032]
[ENSMUST00000113033]
[ENSMUST00000113034]
[ENSMUST00000113037]
[ENSMUST00000156933]
[ENSMUST00000150807]
|
AlphaFold |
A2AL36 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000028235
AA Change: T400A
PolyPhen 2
Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000028235 Gene: ENSMUSG00000057110 AA Change: T400A
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 |
540 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000028237
AA Change: T400A
PolyPhen 2
Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000028237 Gene: ENSMUSG00000057110 AA Change: T400A
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 benign
Transcript: ENSMUST00000113032
AA Change: T400A
PolyPhen 2
Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000108655 Gene: ENSMUSG00000057110 AA Change: T400A
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 benign
Transcript: ENSMUST00000113033
|
SMART Domains |
Protein: ENSMUSP00000108656 Gene: ENSMUSG00000057110
Domain | Start | End | E-Value | Type |
coiled coil region
|
1 |
247 |
N/A |
INTRINSIC |
coiled coil region
|
305 |
418 |
N/A |
INTRINSIC |
low complexity region
|
422 |
442 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
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 benign
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 benign
Transcript: ENSMUST00000123884
|
SMART Domains |
Protein: ENSMUSP00000119760 Gene: ENSMUSG00000057110
Domain | Start | End | E-Value | Type |
coiled coil region
|
37 |
400 |
N/A |
INTRINSIC |
coiled coil region
|
458 |
571 |
N/A |
INTRINSIC |
low complexity region
|
576 |
596 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000156933
AA Change: T400A
PolyPhen 2
Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000118731 Gene: ENSMUSG00000057110 AA Change: T400A
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 benign
Transcript: ENSMUST00000150807
|
SMART Domains |
Protein: ENSMUSP00000142683 Gene: ENSMUSG00000057110
Domain | Start | End | E-Value | Type |
coiled coil region
|
1 |
140 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0837 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 94.9%
|
Validation Efficiency |
100% (67/67) |
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acp6 |
T |
C |
3: 97,075,891 (GRCm39) |
|
probably null |
Het |
Adam33 |
C |
A |
2: 130,896,399 (GRCm39) |
G437C |
probably damaging |
Het |
Aldh1a1 |
T |
A |
19: 20,579,377 (GRCm39) |
M1K |
probably null |
Het |
Amotl2 |
C |
A |
9: 102,597,718 (GRCm39) |
P126Q |
probably damaging |
Het |
Ap1g1 |
T |
A |
8: 110,580,275 (GRCm39) |
M576K |
possibly damaging |
Het |
Apob |
C |
A |
12: 8,040,406 (GRCm39) |
A581E |
probably damaging |
Het |
Asb7 |
A |
T |
7: 66,328,907 (GRCm39) |
D44E |
probably damaging |
Het |
Bcl2 |
G |
A |
1: 106,640,292 (GRCm39) |
R107C |
probably damaging |
Het |
C9orf72 |
G |
A |
4: 35,193,257 (GRCm39) |
T232I |
probably benign |
Het |
Ccdc65 |
A |
T |
15: 98,615,348 (GRCm39) |
H118L |
probably benign |
Het |
Cdc25b |
A |
G |
2: 131,039,204 (GRCm39) |
E523G |
probably damaging |
Het |
Cdk11b |
A |
G |
4: 155,731,999 (GRCm39) |
|
probably benign |
Het |
Cilk1 |
G |
T |
9: 78,062,799 (GRCm39) |
|
probably null |
Het |
Clec1b |
A |
G |
6: 129,378,570 (GRCm39) |
|
probably benign |
Het |
Cpne4 |
T |
G |
9: 104,899,481 (GRCm39) |
|
probably null |
Het |
Cyp2j6 |
T |
A |
4: 96,419,985 (GRCm39) |
R249* |
probably null |
Het |
Dock2 |
T |
C |
11: 34,579,380 (GRCm39) |
I678V |
probably benign |
Het |
Dqx1 |
C |
T |
6: 83,036,407 (GRCm39) |
|
probably benign |
Het |
Dsp |
A |
T |
13: 38,377,326 (GRCm39) |
K1704* |
probably null |
Het |
Eif2b2 |
T |
C |
12: 85,266,957 (GRCm39) |
F121S |
probably benign |
Het |
Ephx4 |
T |
C |
5: 107,561,379 (GRCm39) |
V69A |
possibly damaging |
Het |
Epn2 |
T |
C |
11: 61,426,134 (GRCm39) |
Q281R |
probably damaging |
Het |
Fgf3 |
A |
C |
7: 144,396,547 (GRCm39) |
D187A |
probably damaging |
Het |
Galnt18 |
C |
A |
7: 111,378,506 (GRCm39) |
|
probably benign |
Het |
Gm4871 |
C |
T |
5: 144,968,402 (GRCm39) |
|
probably benign |
Het |
Inpp4b |
T |
C |
8: 82,768,528 (GRCm39) |
I679T |
possibly damaging |
Het |
Itpkb |
A |
G |
1: 180,245,820 (GRCm39) |
E779G |
probably damaging |
Het |
Itsn1 |
G |
A |
16: 91,696,477 (GRCm39) |
V27M |
probably damaging |
Het |
Lrp2 |
C |
A |
2: 69,355,578 (GRCm39) |
R422L |
probably damaging |
Het |
Mmp25 |
G |
A |
17: 23,858,858 (GRCm39) |
A231V |
possibly damaging |
Het |
Mprip |
T |
C |
11: 59,650,561 (GRCm39) |
S1422P |
probably damaging |
Het |
Mro |
A |
T |
18: 74,009,860 (GRCm39) |
Q176L |
probably benign |
Het |
Mrpl12 |
A |
G |
11: 120,379,229 (GRCm39) |
E192G |
probably damaging |
Het |
Myo5b |
A |
T |
18: 74,862,025 (GRCm39) |
|
probably benign |
Het |
Ncam2 |
G |
T |
16: 80,997,772 (GRCm39) |
|
probably benign |
Het |
Nip7 |
T |
C |
8: 107,783,949 (GRCm39) |
L63P |
probably damaging |
Het |
Nsd3 |
T |
C |
8: 26,138,450 (GRCm39) |
|
probably benign |
Het |
Nup98 |
A |
T |
7: 101,788,004 (GRCm39) |
V1022D |
probably benign |
Het |
Or2y1e |
T |
A |
11: 49,218,744 (GRCm39) |
C169S |
probably damaging |
Het |
Or5d43 |
A |
G |
2: 88,104,559 (GRCm39) |
V278A |
possibly damaging |
Het |
Or5h22 |
A |
G |
16: 58,894,633 (GRCm39) |
I270T |
probably benign |
Het |
Or7g28 |
A |
T |
9: 19,272,177 (GRCm39) |
L158* |
probably null |
Het |
P4ha2 |
T |
C |
11: 54,008,434 (GRCm39) |
Y214H |
possibly damaging |
Het |
Pacrg |
A |
T |
17: 10,795,407 (GRCm39) |
F184L |
possibly damaging |
Het |
Parpbp |
T |
A |
10: 87,929,569 (GRCm39) |
R426S |
probably damaging |
Het |
Pcdhb5 |
T |
A |
18: 37,454,359 (GRCm39) |
Y246* |
probably null |
Het |
Pik3cg |
T |
A |
12: 32,244,770 (GRCm39) |
T895S |
probably damaging |
Het |
Prkch |
T |
C |
12: 73,738,426 (GRCm39) |
Y178H |
probably benign |
Het |
Rusc2 |
G |
T |
4: 43,425,486 (GRCm39) |
R1197L |
probably damaging |
Het |
Svep1 |
T |
C |
4: 58,054,700 (GRCm39) |
E3296G |
possibly damaging |
Het |
Svs3a |
A |
G |
2: 164,131,801 (GRCm39) |
K123R |
probably benign |
Het |
Sycp2l |
A |
G |
13: 41,304,006 (GRCm39) |
|
probably null |
Het |
Syne3 |
T |
C |
12: 104,909,685 (GRCm39) |
H717R |
probably benign |
Het |
Tiprl |
A |
G |
1: 165,050,092 (GRCm39) |
|
probably null |
Het |
Trim24 |
T |
G |
6: 37,892,130 (GRCm39) |
V151G |
possibly damaging |
Het |
Trim33 |
T |
C |
3: 103,234,217 (GRCm39) |
V56A |
possibly damaging |
Het |
Trim67 |
C |
A |
8: 125,521,397 (GRCm39) |
T253K |
probably benign |
Het |
Trip12 |
T |
C |
1: 84,703,928 (GRCm39) |
E698G |
probably damaging |
Het |
Tspan14 |
T |
C |
14: 40,637,353 (GRCm39) |
D145G |
probably damaging |
Het |
Ushbp1 |
G |
A |
8: 71,847,021 (GRCm39) |
Q204* |
probably null |
Het |
Vmn1r71 |
G |
C |
7: 10,482,019 (GRCm39) |
S223C |
possibly damaging |
Het |
Vmn2r75 |
G |
T |
7: 85,814,721 (GRCm39) |
N257K |
probably benign |
Het |
Washc4 |
T |
C |
10: 83,394,598 (GRCm39) |
|
probably benign |
Het |
Zc3h7b |
G |
A |
15: 81,666,169 (GRCm39) |
D560N |
probably damaging |
Het |
Zscan21 |
T |
C |
5: 138,123,402 (GRCm39) |
V27A |
probably benign |
Het |
Zzef1 |
A |
C |
11: 72,813,937 (GRCm39) |
E2842A |
probably 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 |
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 |
R1702:Cntrl
|
UTSW |
2 |
35,061,848 (GRCm39) |
critical splice acceptor site |
probably null |
|
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'- TGAAACAGTGCTAAGCAATCCCGT -3'
(R):5'- caccaTGCAGTCATAGCCTGTCTTT -3'
Sequencing Primer
(F):5'- AGGGAGTAATCCTTTTGAGACC -3'
(R):5'- AGCCTGTCTTTTCTTTTCTAAGAAC -3'
|
Posted On |
2013-06-11 |