Incidental Mutation 'R0636:Cep135'
| ID |
56665 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cep135
|
| Ensembl Gene |
ENSMUSG00000036403 |
| Gene Name |
centrosomal protein 135 |
| Synonyms |
Cep4, LOC381644 |
| MMRRC Submission |
038825-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0636 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
76736545-76794313 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 76763504 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 498
(V498A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112602
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049060]
[ENSMUST00000121979]
|
| AlphaFold |
Q6P5D4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049060
AA Change: V498A
PolyPhen 2
Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000038674
Gene: ENSMUSG00000036403
AA Change: V498A
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
47 |
71 |
1.87e-5 |
PROSPERO |
|
low complexity region
|
78 |
92 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
100 |
124 |
1.87e-5 |
PROSPERO |
|
coiled coil region
|
125 |
153 |
N/A |
INTRINSIC |
|
coiled coil region
|
194 |
245 |
N/A |
INTRINSIC |
|
coiled coil region
|
267 |
420 |
N/A |
INTRINSIC |
|
coiled coil region
|
445 |
470 |
N/A |
INTRINSIC |
|
Blast:HAMP
|
492 |
527 |
5e-11 |
BLAST |
|
Blast:SPEC
|
760 |
863 |
6e-21 |
BLAST |
|
low complexity region
|
1060 |
1072 |
N/A |
INTRINSIC |
|
coiled coil region
|
1075 |
1117 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121979
AA Change: V498A
PolyPhen 2
Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000112602
Gene: ENSMUSG00000036403
AA Change: V498A
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
47 |
71 |
1.87e-5 |
PROSPERO |
|
low complexity region
|
78 |
92 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
100 |
124 |
1.87e-5 |
PROSPERO |
|
coiled coil region
|
125 |
153 |
N/A |
INTRINSIC |
|
coiled coil region
|
194 |
245 |
N/A |
INTRINSIC |
|
coiled coil region
|
267 |
420 |
N/A |
INTRINSIC |
|
coiled coil region
|
445 |
470 |
N/A |
INTRINSIC |
|
Blast:HAMP
|
492 |
527 |
5e-11 |
BLAST |
|
Blast:SPEC
|
760 |
863 |
6e-21 |
BLAST |
|
low complexity region
|
1060 |
1072 |
N/A |
INTRINSIC |
|
coiled coil region
|
1075 |
1117 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130651
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.7%
- 20x: 95.7%
|
| Validation Efficiency |
96% (74/77) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a centrosomal protein, which acts as a scaffolding protein during early centriole biogenesis, and is also required for centriole-centriole cohesion during interphase. Mutations in this gene are associated with autosomal recessive primary microcephaly-8. [provided by RefSeq, Jun 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921539E11Rik |
T |
C |
4: 103,088,414 (GRCm39) |
Y264C |
probably damaging |
Het |
| 8030423J24Rik |
T |
C |
13: 71,032,344 (GRCm39) |
F139L |
unknown |
Het |
| Aco1 |
A |
G |
4: 40,175,697 (GRCm39) |
E146G |
probably damaging |
Het |
| Adam2 |
T |
G |
14: 66,272,265 (GRCm39) |
D639A |
probably benign |
Het |
| Adh4 |
G |
T |
3: 138,133,835 (GRCm39) |
R315L |
probably damaging |
Het |
| Adprhl1 |
T |
C |
8: 13,298,702 (GRCm39) |
D76G |
probably damaging |
Het |
| Akip1 |
T |
C |
7: 109,306,726 (GRCm39) |
|
probably benign |
Het |
| Ap3d1 |
T |
A |
10: 80,555,216 (GRCm39) |
K370* |
probably null |
Het |
| Arfgef1 |
C |
A |
1: 10,270,076 (GRCm39) |
V358L |
probably benign |
Het |
| Arpp21 |
A |
T |
9: 112,012,566 (GRCm39) |
D85E |
probably benign |
Het |
| Azi2 |
A |
T |
9: 117,891,125 (GRCm39) |
L383F |
probably benign |
Het |
| Bpgm |
T |
A |
6: 34,481,222 (GRCm39) |
D206E |
probably benign |
Het |
| Bsn |
T |
C |
9: 107,985,033 (GRCm39) |
D3007G |
unknown |
Het |
| Ccdc142 |
T |
G |
6: 83,084,179 (GRCm39) |
|
probably benign |
Het |
| Cntn6 |
A |
T |
6: 104,840,109 (GRCm39) |
Q1003L |
probably benign |
Het |
| Cntnap2 |
T |
A |
6: 47,273,642 (GRCm39) |
|
probably benign |
Het |
| Csf2rb2 |
G |
A |
15: 78,176,160 (GRCm39) |
Q139* |
probably null |
Het |
| Cyp3a16 |
A |
G |
5: 145,399,895 (GRCm39) |
V101A |
probably benign |
Het |
| D630045J12Rik |
T |
C |
6: 38,173,713 (GRCm39) |
T152A |
probably benign |
Het |
| Def8 |
G |
A |
8: 124,181,096 (GRCm39) |
W176* |
probably null |
Het |
| Dgkg |
A |
G |
16: 22,398,479 (GRCm39) |
|
probably benign |
Het |
| Ear10 |
T |
C |
14: 44,160,451 (GRCm39) |
|
probably null |
Het |
| Fbxw2 |
A |
T |
2: 34,712,859 (GRCm39) |
Y67* |
probably null |
Het |
| Flii |
T |
A |
11: 60,606,378 (GRCm39) |
Y1104F |
probably damaging |
Het |
| Gm973 |
G |
A |
1: 59,590,303 (GRCm39) |
R270K |
probably benign |
Het |
| Gnl3 |
T |
A |
14: 30,739,110 (GRCm39) |
K75N |
probably damaging |
Het |
| Gpc6 |
A |
T |
14: 117,861,905 (GRCm39) |
M274L |
probably benign |
Het |
| Ifi47 |
A |
G |
11: 48,987,478 (GRCm39) |
E415G |
possibly damaging |
Het |
| Ift57 |
A |
G |
16: 49,532,259 (GRCm39) |
T130A |
probably benign |
Het |
| Itpr2 |
T |
A |
6: 146,072,910 (GRCm39) |
D2373V |
probably damaging |
Het |
| Kat6a |
T |
C |
8: 23,429,339 (GRCm39) |
S1565P |
possibly damaging |
Het |
| Klhl6 |
A |
T |
16: 19,766,823 (GRCm39) |
|
probably benign |
Het |
| Klra2 |
T |
C |
6: 131,197,067 (GRCm39) |
|
probably benign |
Het |
| Lama5 |
A |
G |
2: 179,831,124 (GRCm39) |
|
probably null |
Het |
| Mapk4 |
A |
G |
18: 74,063,525 (GRCm39) |
S566P |
probably benign |
Het |
| Mindy4 |
C |
A |
6: 55,253,570 (GRCm39) |
R480S |
possibly damaging |
Het |
| Mterf3 |
T |
C |
13: 67,070,817 (GRCm39) |
|
probably benign |
Het |
| Mtmr2 |
A |
G |
9: 13,713,209 (GRCm39) |
|
probably null |
Het |
| Myef2l |
T |
C |
3: 10,153,843 (GRCm39) |
L204P |
possibly damaging |
Het |
| Naip5 |
T |
C |
13: 100,356,196 (GRCm39) |
T1140A |
probably benign |
Het |
| Nf1 |
A |
G |
11: 79,426,529 (GRCm39) |
T1648A |
probably damaging |
Het |
| Nlk |
A |
T |
11: 78,586,670 (GRCm39) |
D141E |
probably benign |
Het |
| Noxa1 |
C |
A |
2: 24,976,106 (GRCm39) |
|
probably benign |
Het |
| Or4g16 |
A |
G |
2: 111,136,757 (GRCm39) |
N69S |
probably benign |
Het |
| Or5b121 |
A |
T |
19: 13,507,613 (GRCm39) |
Y236F |
possibly damaging |
Het |
| Or5p55 |
T |
C |
7: 107,566,679 (GRCm39) |
V25A |
probably benign |
Het |
| Otog |
G |
A |
7: 45,913,652 (GRCm39) |
|
probably null |
Het |
| Pebp4 |
T |
C |
14: 70,285,796 (GRCm39) |
|
probably benign |
Het |
| Phgdh |
G |
T |
3: 98,240,607 (GRCm39) |
N100K |
possibly damaging |
Het |
| Pnisr |
T |
A |
4: 21,873,800 (GRCm39) |
|
probably benign |
Het |
| Ptpn6 |
T |
C |
6: 124,702,242 (GRCm39) |
H346R |
probably benign |
Het |
| Rsf1 |
T |
C |
7: 97,311,226 (GRCm39) |
V652A |
possibly damaging |
Het |
| Rubcn |
G |
A |
16: 32,649,056 (GRCm39) |
H624Y |
probably damaging |
Het |
| Semp2l2a |
T |
C |
8: 13,887,870 (GRCm39) |
R74G |
probably benign |
Het |
| Setdb2 |
T |
C |
14: 59,644,153 (GRCm39) |
N656D |
probably benign |
Het |
| Slc22a23 |
T |
C |
13: 34,483,076 (GRCm39) |
T268A |
probably benign |
Het |
| Slc3a1 |
A |
T |
17: 85,340,222 (GRCm39) |
T215S |
possibly damaging |
Het |
| Srsf2 |
A |
G |
11: 116,742,904 (GRCm39) |
S206P |
probably benign |
Het |
| Susd2 |
T |
A |
10: 75,475,184 (GRCm39) |
D542V |
probably damaging |
Het |
| Svep1 |
G |
A |
4: 58,073,121 (GRCm39) |
Q2063* |
probably null |
Het |
| Syne2 |
G |
A |
12: 75,977,757 (GRCm39) |
V1401M |
possibly damaging |
Het |
| Tenm2 |
A |
G |
11: 36,834,803 (GRCm39) |
L64P |
probably damaging |
Het |
| Tigd2 |
A |
G |
6: 59,188,272 (GRCm39) |
T380A |
possibly damaging |
Het |
| Trmt12 |
G |
T |
15: 58,745,834 (GRCm39) |
V411F |
probably damaging |
Het |
| Ubr4 |
T |
C |
4: 139,163,613 (GRCm39) |
|
probably null |
Het |
| Ush2a |
G |
A |
1: 188,554,935 (GRCm39) |
C3571Y |
probably benign |
Het |
| Usp8 |
A |
G |
2: 126,562,030 (GRCm39) |
M75V |
possibly damaging |
Het |
| Vcan |
C |
T |
13: 89,852,825 (GRCm39) |
D712N |
probably damaging |
Het |
| Vcan |
C |
A |
13: 89,860,386 (GRCm39) |
R327L |
probably damaging |
Het |
| Vps8 |
A |
G |
16: 21,253,683 (GRCm39) |
E8G |
probably benign |
Het |
| Washc5 |
T |
C |
15: 59,231,258 (GRCm39) |
D335G |
probably benign |
Het |
| Zbtb39 |
A |
G |
10: 127,578,704 (GRCm39) |
N426S |
probably benign |
Het |
| Zfp184 |
T |
A |
13: 22,133,919 (GRCm39) |
D55E |
probably damaging |
Het |
| Zfp882 |
T |
C |
8: 72,668,181 (GRCm39) |
V336A |
probably benign |
Het |
|
| Other mutations in Cep135 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00402:Cep135
|
APN |
5 |
76,749,306 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01154:Cep135
|
APN |
5 |
76,754,643 (GRCm39) |
splice site |
probably benign |
|
|
IGL01323:Cep135
|
APN |
5 |
76,739,612 (GRCm39) |
missense |
probably benign |
0.29 |
|
IGL01599:Cep135
|
APN |
5 |
76,741,194 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL01923:Cep135
|
APN |
5 |
76,788,829 (GRCm39) |
makesense |
probably null |
|
|
IGL02178:Cep135
|
APN |
5 |
76,743,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02276:Cep135
|
APN |
5 |
76,782,093 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02344:Cep135
|
APN |
5 |
76,764,668 (GRCm39) |
missense |
probably benign |
|
|
IGL02394:Cep135
|
APN |
5 |
76,779,318 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02740:Cep135
|
APN |
5 |
76,786,115 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02832:Cep135
|
APN |
5 |
76,788,796 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0026:Cep135
|
UTSW |
5 |
76,754,581 (GRCm39) |
nonsense |
probably null |
|
|
R0060:Cep135
|
UTSW |
5 |
76,769,197 (GRCm39) |
missense |
probably benign |
0.20 |
|
R0325:Cep135
|
UTSW |
5 |
76,763,590 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0336:Cep135
|
UTSW |
5 |
76,749,349 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0564:Cep135
|
UTSW |
5 |
76,786,796 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0564:Cep135
|
UTSW |
5 |
76,763,557 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0600:Cep135
|
UTSW |
5 |
76,769,152 (GRCm39) |
missense |
probably benign |
|
|
R0704:Cep135
|
UTSW |
5 |
76,778,796 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R0835:Cep135
|
UTSW |
5 |
76,763,553 (GRCm39) |
missense |
probably benign |
0.40 |
|
R1015:Cep135
|
UTSW |
5 |
76,788,844 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1167:Cep135
|
UTSW |
5 |
76,772,484 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1252:Cep135
|
UTSW |
5 |
76,741,962 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1554:Cep135
|
UTSW |
5 |
76,782,060 (GRCm39) |
nonsense |
probably null |
|
|
R1770:Cep135
|
UTSW |
5 |
76,751,042 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1804:Cep135
|
UTSW |
5 |
76,784,779 (GRCm39) |
missense |
probably benign |
0.22 |
|
R1968:Cep135
|
UTSW |
5 |
76,772,594 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R1987:Cep135
|
UTSW |
5 |
76,745,275 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1996:Cep135
|
UTSW |
5 |
76,780,113 (GRCm39) |
missense |
probably benign |
0.08 |
|
R2004:Cep135
|
UTSW |
5 |
76,780,176 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2178:Cep135
|
UTSW |
5 |
76,779,297 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2305:Cep135
|
UTSW |
5 |
76,743,236 (GRCm39) |
splice site |
probably benign |
|
|
R2679:Cep135
|
UTSW |
5 |
76,772,507 (GRCm39) |
missense |
probably benign |
|
|
R3125:Cep135
|
UTSW |
5 |
76,769,210 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3623:Cep135
|
UTSW |
5 |
76,772,586 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4359:Cep135
|
UTSW |
5 |
76,759,561 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R4407:Cep135
|
UTSW |
5 |
76,772,514 (GRCm39) |
missense |
probably benign |
|
|
R4561:Cep135
|
UTSW |
5 |
76,786,040 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4666:Cep135
|
UTSW |
5 |
76,764,701 (GRCm39) |
missense |
probably benign |
|
|
R4945:Cep135
|
UTSW |
5 |
76,745,275 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5105:Cep135
|
UTSW |
5 |
76,741,939 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5117:Cep135
|
UTSW |
5 |
76,779,276 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5176:Cep135
|
UTSW |
5 |
76,784,873 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5194:Cep135
|
UTSW |
5 |
76,763,624 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5233:Cep135
|
UTSW |
5 |
76,739,690 (GRCm39) |
small deletion |
probably benign |
|
|
R5275:Cep135
|
UTSW |
5 |
76,741,051 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5295:Cep135
|
UTSW |
5 |
76,741,051 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5412:Cep135
|
UTSW |
5 |
76,764,709 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5427:Cep135
|
UTSW |
5 |
76,786,049 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5801:Cep135
|
UTSW |
5 |
76,778,523 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5975:Cep135
|
UTSW |
5 |
76,788,737 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6087:Cep135
|
UTSW |
5 |
76,763,638 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6176:Cep135
|
UTSW |
5 |
76,772,490 (GRCm39) |
missense |
probably benign |
|
|
R6210:Cep135
|
UTSW |
5 |
76,772,570 (GRCm39) |
missense |
probably benign |
0.15 |
|
R6456:Cep135
|
UTSW |
5 |
76,739,571 (GRCm39) |
start gained |
probably benign |
|
|
R6467:Cep135
|
UTSW |
5 |
76,769,187 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R6622:Cep135
|
UTSW |
5 |
76,788,815 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6650:Cep135
|
UTSW |
5 |
76,781,548 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R6838:Cep135
|
UTSW |
5 |
76,780,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7028:Cep135
|
UTSW |
5 |
76,764,695 (GRCm39) |
missense |
probably benign |
|
|
R7049:Cep135
|
UTSW |
5 |
76,754,585 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7095:Cep135
|
UTSW |
5 |
76,741,905 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7207:Cep135
|
UTSW |
5 |
76,780,090 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7330:Cep135
|
UTSW |
5 |
76,754,592 (GRCm39) |
nonsense |
probably null |
|
|
R7369:Cep135
|
UTSW |
5 |
76,741,100 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7741:Cep135
|
UTSW |
5 |
76,778,817 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7850:Cep135
|
UTSW |
5 |
76,739,720 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7869:Cep135
|
UTSW |
5 |
76,788,803 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7923:Cep135
|
UTSW |
5 |
76,757,539 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8303:Cep135
|
UTSW |
5 |
76,759,575 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8312:Cep135
|
UTSW |
5 |
76,784,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8424:Cep135
|
UTSW |
5 |
76,741,906 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R8490:Cep135
|
UTSW |
5 |
76,786,054 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8967:Cep135
|
UTSW |
5 |
76,751,165 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8968:Cep135
|
UTSW |
5 |
76,754,576 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9126:Cep135
|
UTSW |
5 |
76,781,550 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9726:Cep135
|
UTSW |
5 |
76,741,151 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Cep135
|
UTSW |
5 |
76,739,673 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGAGCTAGGGAGTCTGCACCATC -3'
(R):5'- CAGGCACTCTAACTTGGAGGCTAAC -3'
Sequencing Primer
(F):5'- GAGTCTGCACCATCACTGC -3'
(R):5'- CCAAGGACAATTTTGGCTCAG -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation