Incidental Mutation 'IGL02740:Cep135'
| ID |
305889 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cep135
|
| Ensembl Gene |
ENSMUSG00000036403 |
| Gene Name |
centrosomal protein 135 |
| Synonyms |
Cep4, LOC381644 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02740
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
76736545-76794313 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 76786115 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112602
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049060]
[ENSMUST00000121979]
|
| AlphaFold |
Q6P5D4 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000049060
|
| SMART Domains |
Protein: ENSMUSP00000038674
Gene: ENSMUSG00000036403
| 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 null
Transcript: ENSMUST00000121979
|
| SMART Domains |
Protein: ENSMUSP00000112602
Gene: ENSMUSG00000036403
| 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
|
| Coding Region Coverage |
|
| 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, 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Als2 |
C |
T |
1: 59,209,078 (GRCm39) |
E1494K |
probably benign |
Het |
| Antxr2 |
A |
G |
5: 98,178,251 (GRCm39) |
|
probably benign |
Het |
| Arhgap23 |
A |
C |
11: 97,365,843 (GRCm39) |
K998Q |
probably damaging |
Het |
| Bap1 |
A |
G |
14: 30,978,729 (GRCm39) |
N47D |
possibly damaging |
Het |
| Carmil1 |
A |
G |
13: 24,278,501 (GRCm39) |
I156T |
probably damaging |
Het |
| Ccdc141 |
T |
C |
2: 76,884,953 (GRCm39) |
T563A |
probably benign |
Het |
| Cct7 |
T |
C |
6: 85,445,252 (GRCm39) |
F501S |
probably benign |
Het |
| Cd59b |
A |
G |
2: 103,909,242 (GRCm39) |
I8V |
probably benign |
Het |
| Cep170 |
T |
G |
1: 176,621,166 (GRCm39) |
T4P |
probably damaging |
Het |
| Chaf1a |
G |
T |
17: 56,374,500 (GRCm39) |
G896W |
probably damaging |
Het |
| Cpt1b |
A |
T |
15: 89,308,535 (GRCm39) |
L131Q |
probably damaging |
Het |
| Dcaf13 |
C |
T |
15: 39,008,495 (GRCm39) |
R366* |
probably null |
Het |
| Ddr2 |
A |
T |
1: 169,812,514 (GRCm39) |
N659K |
probably damaging |
Het |
| Dmrt2 |
C |
A |
19: 25,655,837 (GRCm39) |
L479I |
possibly damaging |
Het |
| Dnah10 |
A |
G |
5: 124,903,927 (GRCm39) |
|
probably benign |
Het |
| Dsg3 |
C |
T |
18: 20,660,765 (GRCm39) |
T368M |
possibly damaging |
Het |
| Dspp |
C |
A |
5: 104,325,104 (GRCm39) |
S489* |
probably null |
Het |
| Eed |
A |
C |
7: 89,621,464 (GRCm39) |
V112G |
possibly damaging |
Het |
| Ehmt1 |
T |
A |
2: 24,705,851 (GRCm39) |
|
probably benign |
Het |
| Elavl3 |
T |
C |
9: 21,947,675 (GRCm39) |
D89G |
probably benign |
Het |
| Ercc5 |
T |
C |
1: 44,206,652 (GRCm39) |
S522P |
probably benign |
Het |
| Esrrg |
T |
C |
1: 187,930,938 (GRCm39) |
L320P |
probably benign |
Het |
| Gadl1 |
T |
A |
9: 115,835,629 (GRCm39) |
Y352* |
probably null |
Het |
| Gemin5 |
G |
A |
11: 58,042,390 (GRCm39) |
A477V |
probably damaging |
Het |
| Gm3086 |
A |
T |
12: 70,016,095 (GRCm39) |
|
probably benign |
Het |
| Gm8082 |
C |
T |
14: 42,846,570 (GRCm39) |
|
probably benign |
Het |
| Gpr180 |
T |
C |
14: 118,377,161 (GRCm39) |
L54P |
probably damaging |
Het |
| Gpsm1 |
G |
A |
2: 26,230,585 (GRCm39) |
V512M |
probably benign |
Het |
| Ighv5-4 |
A |
G |
12: 113,561,100 (GRCm39) |
S107P |
probably damaging |
Het |
| Irak4 |
T |
C |
15: 94,464,925 (GRCm39) |
*460Q |
probably null |
Het |
| Nfkbiz |
G |
T |
16: 55,638,317 (GRCm39) |
T381N |
probably benign |
Het |
| Or1e25 |
A |
T |
11: 73,493,657 (GRCm39) |
N84Y |
probably benign |
Het |
| Or5d39 |
T |
A |
2: 87,979,601 (GRCm39) |
H254L |
probably damaging |
Het |
| Or8b46 |
T |
C |
9: 38,450,226 (GRCm39) |
F12L |
probably damaging |
Het |
| Or8g23 |
T |
C |
9: 38,971,585 (GRCm39) |
I126V |
probably benign |
Het |
| Pou2f1 |
G |
A |
1: 165,710,685 (GRCm39) |
Q523* |
probably null |
Het |
| Ptcra |
A |
G |
17: 47,069,473 (GRCm39) |
S133P |
probably damaging |
Het |
| Ptgfrn |
A |
T |
3: 100,980,253 (GRCm39) |
D362E |
possibly damaging |
Het |
| Rbm33 |
A |
T |
5: 28,536,121 (GRCm39) |
D19V |
probably damaging |
Het |
| Rnf4 |
T |
A |
5: 34,506,898 (GRCm39) |
V74D |
possibly damaging |
Het |
| Rprd1b |
A |
G |
2: 157,889,899 (GRCm39) |
D7G |
probably damaging |
Het |
| Rrp1b |
A |
G |
17: 32,278,305 (GRCm39) |
T659A |
probably damaging |
Het |
| Scaf11 |
T |
C |
15: 96,316,883 (GRCm39) |
N894D |
probably benign |
Het |
| Scn1a |
G |
A |
2: 66,155,106 (GRCm39) |
R618C |
probably damaging |
Het |
| Scn1a |
A |
T |
2: 66,148,421 (GRCm39) |
D1041E |
probably benign |
Het |
| Slc43a1 |
G |
T |
2: 84,690,094 (GRCm39) |
A424S |
probably damaging |
Het |
| Sprtn |
T |
C |
8: 125,625,042 (GRCm39) |
L49P |
probably damaging |
Het |
| Sv2a |
G |
T |
3: 96,092,723 (GRCm39) |
R141L |
possibly damaging |
Het |
| Thsd7b |
C |
T |
1: 129,540,864 (GRCm39) |
S246F |
probably damaging |
Het |
| Tmem117 |
A |
T |
15: 94,612,863 (GRCm39) |
D133V |
probably benign |
Het |
| Tnn |
A |
T |
1: 159,968,347 (GRCm39) |
|
probably benign |
Het |
| Triobp |
G |
A |
15: 78,850,889 (GRCm39) |
V348I |
probably benign |
Het |
| Trps1 |
A |
T |
15: 50,709,935 (GRCm39) |
D134E |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,598,162 (GRCm39) |
I19584V |
probably benign |
Het |
| Uqcrfs1 |
T |
C |
13: 30,725,006 (GRCm39) |
H178R |
probably damaging |
Het |
| Ush2a |
A |
T |
1: 188,380,585 (GRCm39) |
Q2298L |
possibly damaging |
Het |
| Vmn2r67 |
A |
G |
7: 84,785,818 (GRCm39) |
I729T |
probably damaging |
Het |
| Vmn2r79 |
A |
T |
7: 86,653,366 (GRCm39) |
M544L |
probably benign |
Het |
| Vps41 |
T |
A |
13: 19,022,850 (GRCm39) |
L404Q |
probably damaging |
Het |
| Xrcc5 |
T |
G |
1: 72,379,240 (GRCm39) |
|
probably null |
Het |
| Zfp735 |
A |
G |
11: 73,601,412 (GRCm39) |
K119E |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation