Incidental Mutation 'R5975:Cep135'
| ID |
471674 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cep135
|
| Ensembl Gene |
ENSMUSG00000036403 |
| Gene Name |
centrosomal protein 135 |
| Synonyms |
Cep4, LOC381644 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5975 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
76736545-76794313 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 76788737 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 1110
(A1110E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112602
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049060]
[ENSMUST00000121979]
|
| AlphaFold |
Q6P5D4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000049060
AA Change: A1110E
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000038674
Gene: ENSMUSG00000036403
AA Change: A1110E
| 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 |
possibly damaging
Transcript: ENSMUST00000121979
AA Change: A1110E
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000112602
Gene: ENSMUSG00000036403
AA Change: A1110E
| 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 |
0.2126 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.3%
|
| Validation Efficiency |
98% (80/82) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9430038I01Rik |
T |
C |
7: 136,989,021 (GRCm39) |
|
probably benign |
Het |
| Abhd14a |
A |
T |
9: 106,321,150 (GRCm39) |
|
probably null |
Het |
| Actn2 |
T |
C |
13: 12,355,378 (GRCm39) |
N2D |
probably benign |
Het |
| Adcy9 |
T |
C |
16: 4,129,431 (GRCm39) |
E722G |
probably damaging |
Het |
| Alox12 |
C |
A |
11: 70,133,609 (GRCm39) |
V572L |
possibly damaging |
Het |
| Ankrd11 |
T |
C |
8: 123,616,488 (GRCm39) |
I2434V |
possibly damaging |
Het |
| Anks1 |
T |
A |
17: 28,210,421 (GRCm39) |
|
probably null |
Het |
| Bltp1 |
C |
T |
3: 37,023,370 (GRCm39) |
T2233I |
possibly damaging |
Het |
| Bpifa3 |
T |
A |
2: 153,978,241 (GRCm39) |
S148T |
probably damaging |
Het |
| Bptf |
C |
T |
11: 106,926,690 (GRCm39) |
|
probably benign |
Het |
| Cabin1 |
A |
T |
10: 75,493,673 (GRCm39) |
L1655H |
probably damaging |
Het |
| Ccdc13 |
G |
T |
9: 121,656,301 (GRCm39) |
Q171K |
probably benign |
Het |
| Ccdc33 |
T |
A |
9: 58,024,761 (GRCm39) |
Q155L |
possibly damaging |
Het |
| Cckbr |
G |
A |
7: 105,119,826 (GRCm39) |
G280E |
probably benign |
Het |
| Cdk11b |
G |
A |
4: 155,732,697 (GRCm39) |
|
probably benign |
Het |
| Celsr1 |
G |
T |
15: 85,803,239 (GRCm39) |
|
probably null |
Het |
| Cenpj |
A |
T |
14: 56,801,523 (GRCm39) |
I150N |
possibly damaging |
Het |
| Chit1 |
C |
A |
1: 134,074,364 (GRCm39) |
H224N |
probably damaging |
Het |
| Cul5 |
T |
C |
9: 53,534,093 (GRCm39) |
R680G |
probably damaging |
Het |
| Dhx58 |
C |
A |
11: 100,593,035 (GRCm39) |
R224L |
probably damaging |
Het |
| Dlx1 |
C |
A |
2: 71,361,353 (GRCm39) |
N122K |
probably damaging |
Het |
| Dnah5 |
A |
C |
15: 28,234,428 (GRCm39) |
D279A |
probably damaging |
Het |
| Dnai4 |
G |
A |
4: 102,906,786 (GRCm39) |
P676S |
probably benign |
Het |
| Efcab3 |
A |
G |
11: 104,578,375 (GRCm39) |
|
probably benign |
Het |
| Enpp3 |
A |
G |
10: 24,650,740 (GRCm39) |
W799R |
probably benign |
Het |
| Ercc5 |
A |
G |
1: 44,212,566 (GRCm39) |
T675A |
probably benign |
Het |
| Farsa |
T |
A |
8: 85,591,061 (GRCm39) |
|
probably null |
Het |
| Fbxw15 |
A |
T |
9: 109,384,320 (GRCm39) |
V397D |
probably damaging |
Het |
| Fcrl5 |
G |
A |
3: 87,349,410 (GRCm39) |
V62I |
probably benign |
Het |
| Gart |
A |
G |
16: 91,421,224 (GRCm39) |
S815P |
probably damaging |
Het |
| Glrx5 |
A |
G |
12: 105,006,582 (GRCm39) |
N111S |
possibly damaging |
Het |
| Gm10845 |
A |
G |
14: 80,100,614 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9925 |
T |
A |
18: 74,198,587 (GRCm39) |
|
probably benign |
Het |
| Gsdme |
T |
C |
6: 50,204,339 (GRCm39) |
N206S |
probably benign |
Het |
| Helz2 |
T |
C |
2: 180,872,843 (GRCm39) |
S2459G |
probably benign |
Het |
| Hnrnpul1 |
A |
G |
7: 25,453,784 (GRCm39) |
S93P |
possibly damaging |
Het |
| Ints2 |
A |
T |
11: 86,117,574 (GRCm39) |
I716N |
possibly damaging |
Het |
| Lmnb2 |
G |
A |
10: 80,740,962 (GRCm39) |
Q248* |
probably null |
Het |
| Map3k7cl |
A |
G |
16: 87,367,209 (GRCm39) |
I32V |
probably benign |
Het |
| Mfsd4b4 |
A |
T |
10: 39,768,466 (GRCm39) |
I255N |
probably benign |
Het |
| Myh6 |
A |
G |
14: 55,187,965 (GRCm39) |
I1163T |
probably benign |
Het |
| Nphs1 |
A |
T |
7: 30,165,540 (GRCm39) |
T636S |
possibly damaging |
Het |
| Ntsr1 |
T |
A |
2: 180,142,581 (GRCm39) |
L124Q |
probably damaging |
Het |
| Obscn |
C |
T |
11: 59,013,445 (GRCm39) |
|
probably null |
Het |
| P4ha2 |
G |
A |
11: 54,017,238 (GRCm39) |
|
probably null |
Het |
| Pcdha9 |
T |
A |
18: 37,132,164 (GRCm39) |
V411D |
probably benign |
Het |
| Pkhd1l1 |
A |
T |
15: 44,389,384 (GRCm39) |
I1380F |
probably damaging |
Het |
| Plekha1 |
T |
C |
7: 130,493,983 (GRCm39) |
V106A |
probably benign |
Het |
| Plekhm1 |
A |
T |
11: 103,267,517 (GRCm39) |
V818E |
possibly damaging |
Het |
| Pprc1 |
T |
G |
19: 46,053,809 (GRCm39) |
|
probably benign |
Het |
| Prb1c |
A |
G |
6: 132,339,036 (GRCm39) |
S61P |
unknown |
Het |
| Prmt9 |
T |
C |
8: 78,287,647 (GRCm39) |
|
probably benign |
Het |
| Rab26 |
T |
C |
17: 24,749,373 (GRCm39) |
N193D |
possibly damaging |
Het |
| Rnf111 |
A |
G |
9: 70,336,862 (GRCm39) |
S942P |
probably damaging |
Het |
| Scgb2b18 |
T |
C |
7: 32,872,650 (GRCm39) |
T52A |
probably damaging |
Het |
| Syt3 |
C |
T |
7: 44,042,187 (GRCm39) |
Q349* |
probably null |
Het |
| Tas2r107 |
T |
C |
6: 131,636,743 (GRCm39) |
N102S |
probably benign |
Het |
| Tas2r126 |
T |
A |
6: 42,411,934 (GRCm39) |
Y156N |
possibly damaging |
Het |
| Tcaf2 |
A |
T |
6: 42,619,712 (GRCm39) |
I105N |
probably benign |
Het |
| Tet1 |
A |
C |
10: 62,715,552 (GRCm39) |
M81R |
probably benign |
Het |
| Togaram2 |
T |
C |
17: 72,036,200 (GRCm39) |
Y897H |
probably damaging |
Het |
| Trerf1 |
A |
T |
17: 47,625,197 (GRCm39) |
|
noncoding transcript |
Het |
| Ttn |
G |
A |
2: 76,591,579 (GRCm39) |
T12703I |
probably damaging |
Het |
| Unc79 |
A |
G |
12: 103,091,885 (GRCm39) |
K1735E |
possibly damaging |
Het |
| Usp54 |
G |
A |
14: 20,633,419 (GRCm39) |
T372I |
possibly damaging |
Het |
| Wdr24 |
T |
C |
17: 26,046,102 (GRCm39) |
S476P |
probably benign |
Het |
| Zbtb1 |
T |
C |
12: 76,433,049 (GRCm39) |
I345T |
possibly damaging |
Het |
| Zcrb1 |
T |
A |
15: 93,293,496 (GRCm39) |
I29L |
probably benign |
Het |
| Zfp341 |
T |
A |
2: 154,472,361 (GRCm39) |
C315S |
probably damaging |
Het |
| Zfp623 |
C |
A |
15: 75,820,012 (GRCm39) |
R323S |
probably benign |
Het |
| Zfp831 |
T |
A |
2: 174,485,885 (GRCm39) |
Y187N |
possibly damaging |
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 |
|
|
R0636:Cep135
|
UTSW |
5 |
76,763,504 (GRCm39) |
missense |
probably benign |
0.07 |
|
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 |
|
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'- TAACACAGTAAGGCCCCATTTC -3'
(R):5'- ACATGTCCATTGCTCCAGGC -3'
Sequencing Primer
(F):5'- GTAAGGCCCCATTTCAAAGATG -3'
(R):5'- AGTCCCTGGGAACACCTTTC -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation