Incidental Mutation 'R9617:Cntrl'
ID |
726492 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cntrl
|
Ensembl Gene |
ENSMUSG00000057110 |
Gene Name |
centriolin |
Synonyms |
IB3/5, b2b1468Clo, Cep1, 6720467O09Rik, Ma2a8, Cep110 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.909)
|
Stock # |
R9617 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
34999504-35068834 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 35035077 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 901
(F901L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108655
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028237]
[ENSMUST00000113032]
[ENSMUST00000113033]
[ENSMUST00000113034]
[ENSMUST00000113037]
[ENSMUST00000156933]
[ENSMUST00000201787]
|
AlphaFold |
A2AL36 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000028237
AA Change: F901L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000028237 Gene: ENSMUSG00000057110 AA Change: F901L
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: F901L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000108655 Gene: ENSMUSG00000057110 AA Change: F901L
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
AA Change: F348L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000108656 Gene: ENSMUSG00000057110 AA Change: F348L
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
AA Change: F348L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000108657 Gene: ENSMUSG00000057110 AA Change: F348L
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
AA Change: F348L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000108660 Gene: ENSMUSG00000057110 AA Change: F348L
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 |
|
SMART Domains |
Protein: ENSMUSP00000119760 Gene: ENSMUSG00000057110 AA Change: F501L
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: F901L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000118731 Gene: ENSMUSG00000057110 AA Change: F901L
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: ENSMUST00000201787
|
SMART Domains |
Protein: ENSMUSP00000143914 Gene: ENSMUSG00000057110
Domain | Start | End | E-Value | Type |
coiled coil region
|
9 |
71 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
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: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110032F04Rik |
C |
T |
3: 68,777,402 (GRCm39) |
P121L |
probably damaging |
Het |
4930442H23Rik |
C |
T |
10: 81,018,976 (GRCm39) |
V16I |
unknown |
Het |
4930444P10Rik |
T |
C |
1: 16,139,051 (GRCm39) |
M97V |
probably benign |
Het |
Abcb1a |
A |
T |
5: 8,797,353 (GRCm39) |
|
probably null |
Het |
Abhd5 |
T |
C |
9: 122,197,035 (GRCm39) |
I74T |
probably benign |
Het |
Ankle2 |
T |
A |
5: 110,399,409 (GRCm39) |
F590I |
probably damaging |
Het |
C2cd6 |
T |
C |
1: 59,097,848 (GRCm39) |
S414G |
probably benign |
Het |
Catsperd |
G |
A |
17: 56,968,252 (GRCm39) |
D546N |
probably benign |
Het |
Cep295nl |
G |
T |
11: 118,224,000 (GRCm39) |
H281Q |
possibly damaging |
Het |
Cfap69 |
T |
C |
5: 5,639,164 (GRCm39) |
E670G |
probably damaging |
Het |
Cfh |
A |
T |
1: 140,090,718 (GRCm39) |
V90E |
possibly damaging |
Het |
Cnksr3 |
A |
C |
10: 7,079,021 (GRCm39) |
|
probably null |
Het |
Coch |
T |
A |
12: 51,645,034 (GRCm39) |
M196K |
probably damaging |
Het |
Crygd |
T |
C |
1: 65,102,369 (GRCm39) |
N34S |
probably damaging |
Het |
Ctdp1 |
A |
T |
18: 80,492,962 (GRCm39) |
I511N |
probably benign |
Het |
Dhx30 |
C |
T |
9: 109,926,186 (GRCm39) |
A142T |
probably damaging |
Het |
Dlg2 |
T |
C |
7: 92,087,284 (GRCm39) |
|
probably null |
Het |
Dmxl1 |
A |
G |
18: 49,998,228 (GRCm39) |
D776G |
probably damaging |
Het |
Dnm3 |
C |
T |
1: 162,149,354 (GRCm39) |
G197D |
probably damaging |
Het |
Eif4g3 |
A |
G |
4: 137,824,190 (GRCm39) |
H91R |
probably damaging |
Het |
Ephb6 |
A |
G |
6: 41,596,258 (GRCm39) |
M844V |
probably damaging |
Het |
Erc1 |
T |
C |
6: 119,773,902 (GRCm39) |
E351G |
probably benign |
Het |
Etfbkmt |
G |
A |
6: 149,045,744 (GRCm39) |
G33R |
probably benign |
Het |
Fnbp4 |
T |
C |
2: 90,588,738 (GRCm39) |
I503T |
probably benign |
Het |
Gm6370 |
A |
T |
5: 146,429,993 (GRCm39) |
Q143L |
probably benign |
Het |
Gnas |
T |
C |
2: 174,141,988 (GRCm39) |
V719A |
possibly damaging |
Het |
H13 |
C |
A |
2: 152,530,873 (GRCm39) |
D219E |
probably damaging |
Het |
Hhatl |
G |
A |
9: 121,618,191 (GRCm39) |
T188I |
possibly damaging |
Het |
Ifi27l2b |
C |
T |
12: 103,422,683 (GRCm39) |
A45T |
probably damaging |
Het |
Kbtbd8 |
T |
C |
6: 95,103,874 (GRCm39) |
C585R |
possibly damaging |
Het |
Limk2 |
A |
G |
11: 3,297,715 (GRCm39) |
S473P |
probably damaging |
Het |
Lrba |
G |
A |
3: 86,267,169 (GRCm39) |
G1620S |
probably benign |
Het |
Lrrtm2 |
T |
C |
18: 35,346,490 (GRCm39) |
T271A |
probably benign |
Het |
Map3k4 |
A |
G |
17: 12,476,871 (GRCm39) |
S759P |
possibly damaging |
Het |
Mybphl |
G |
T |
3: 108,282,952 (GRCm39) |
V247F |
possibly damaging |
Het |
Myh10 |
T |
A |
11: 68,682,815 (GRCm39) |
V1120D |
probably benign |
Het |
Naip1 |
T |
C |
13: 100,569,821 (GRCm39) |
N271S |
probably benign |
Het |
Napepld |
C |
T |
5: 21,875,561 (GRCm39) |
V328I |
probably damaging |
Het |
Nucb1 |
A |
G |
7: 45,148,159 (GRCm39) |
V218A |
probably benign |
Het |
Nup107 |
A |
T |
10: 117,593,238 (GRCm39) |
D813E |
probably benign |
Het |
Or14j3 |
T |
A |
17: 37,901,053 (GRCm39) |
K64* |
probably null |
Het |
Or5g29 |
T |
A |
2: 85,421,279 (GRCm39) |
Y132N |
probably damaging |
Het |
Or6c35 |
A |
T |
10: 129,168,794 (GRCm39) |
T15S |
probably damaging |
Het |
Or8g52 |
A |
G |
9: 39,630,678 (GRCm39) |
S52G |
possibly damaging |
Het |
Pabpc2 |
T |
C |
18: 39,907,602 (GRCm39) |
I289T |
probably benign |
Het |
Parg |
A |
G |
14: 31,960,569 (GRCm39) |
I600V |
probably benign |
Het |
Patj |
T |
C |
4: 98,393,991 (GRCm39) |
F975L |
probably benign |
Het |
Pcdhb17 |
A |
G |
18: 37,618,218 (GRCm39) |
T3A |
probably benign |
Het |
Piezo2 |
T |
C |
18: 63,248,108 (GRCm39) |
E464G |
probably benign |
Het |
Pkd1 |
T |
A |
17: 24,800,341 (GRCm39) |
V3034D |
probably damaging |
Het |
Pld2 |
A |
G |
11: 70,447,944 (GRCm39) |
E869G |
probably damaging |
Het |
Plek |
T |
A |
11: 16,945,311 (GRCm39) |
L29F |
possibly damaging |
Het |
Prelp |
A |
G |
1: 133,842,416 (GRCm39) |
L243P |
probably damaging |
Het |
Rapgef5 |
T |
A |
12: 117,621,930 (GRCm39) |
D231E |
probably benign |
Het |
Riok1 |
A |
G |
13: 38,244,016 (GRCm39) |
E514G |
probably benign |
Het |
Rmdn2 |
T |
C |
17: 79,928,790 (GRCm39) |
M14T |
probably benign |
Het |
Rorb |
G |
A |
19: 18,939,499 (GRCm39) |
Q228* |
probably null |
Het |
Scmh1 |
T |
A |
4: 120,340,827 (GRCm39) |
M171K |
probably damaging |
Het |
Scn9a |
A |
G |
2: 66,392,809 (GRCm39) |
L261P |
probably damaging |
Het |
Senp7 |
A |
T |
16: 55,971,652 (GRCm39) |
N263I |
probably benign |
Het |
Slc11a1 |
G |
T |
1: 74,419,041 (GRCm39) |
A162S |
probably benign |
Het |
Slc6a17 |
A |
G |
3: 107,384,685 (GRCm39) |
V305A |
probably damaging |
Het |
Snph |
A |
T |
2: 151,435,422 (GRCm39) |
V502E |
probably damaging |
Het |
Sost |
G |
T |
11: 101,854,892 (GRCm39) |
A139E |
possibly damaging |
Het |
Srp54a |
A |
T |
12: 55,136,061 (GRCm39) |
E25D |
probably benign |
Het |
Tmeff1 |
T |
A |
4: 48,636,940 (GRCm39) |
C213S |
probably damaging |
Het |
Tmem232 |
A |
T |
17: 65,807,180 (GRCm39) |
Y4* |
probably null |
Het |
Tmem63c |
T |
G |
12: 87,103,361 (GRCm39) |
I45S |
probably benign |
Het |
Ttbk1 |
C |
T |
17: 46,757,998 (GRCm39) |
G879S |
probably damaging |
Het |
Ugt1a7c |
A |
G |
1: 88,022,952 (GRCm39) |
H37R |
probably damaging |
Het |
Vmn1r236 |
T |
C |
17: 21,507,053 (GRCm39) |
L57P |
probably damaging |
Het |
Wnk2 |
T |
A |
13: 49,192,453 (GRCm39) |
E675V |
unknown |
Het |
Wnt10b |
T |
C |
15: 98,674,609 (GRCm39) |
T43A |
probably damaging |
Het |
Wnt8a |
C |
A |
18: 34,680,163 (GRCm39) |
T176K |
probably benign |
Het |
Zfp937 |
T |
A |
2: 150,080,452 (GRCm39) |
C161S |
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 |
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 |
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 |
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'- AACCTTGTTATGTTCCCTAGTAAGG -3'
(R):5'- ACACAGACAGCTGAGTGTGG -3'
Sequencing Primer
(F):5'- ACAGCACTCTTATTTTGCTTAAGAC -3'
(R):5'- GGAAACAGGTCCCTTACTTTTCTAGG -3'
|
Posted On |
2022-10-06 |