Incidental Mutation 'R5801:Cep135'
ID |
448336 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cep135
|
Ensembl Gene |
ENSMUSG00000036403 |
Gene Name |
centrosomal protein 135 |
Synonyms |
Cep4, LOC381644 |
MMRRC Submission |
043390-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5801 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
76736545-76794313 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 76778523 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 674
(E674G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112602
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049060]
[ENSMUST00000121979]
|
AlphaFold |
Q6P5D4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000049060
AA Change: E674G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000038674 Gene: ENSMUSG00000036403 AA Change: E674G
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 damaging
Transcript: ENSMUST00000121979
AA Change: E674G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000112602 Gene: ENSMUSG00000036403 AA Change: E674G
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 |
0.0884 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.9%
|
Validation Efficiency |
100% (75/75) |
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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
AAdacl4fm3 |
T |
A |
4: 144,430,206 (GRCm39) |
D261V |
probably damaging |
Het |
Adam15 |
C |
T |
3: 89,249,668 (GRCm39) |
V667I |
probably damaging |
Het |
Adamts14 |
T |
C |
10: 61,038,775 (GRCm39) |
S912G |
probably damaging |
Het |
Adamts20 |
C |
A |
15: 94,245,551 (GRCm39) |
E584* |
probably null |
Het |
Ago3 |
A |
T |
4: 126,265,561 (GRCm39) |
N284K |
possibly damaging |
Het |
Alx3 |
T |
A |
3: 107,512,257 (GRCm39) |
Y298* |
probably null |
Het |
Arhgap32 |
A |
G |
9: 32,167,084 (GRCm39) |
I574V |
probably benign |
Het |
Bsn |
C |
T |
9: 107,990,208 (GRCm39) |
R1848Q |
possibly damaging |
Het |
Caskin2 |
T |
C |
11: 115,694,299 (GRCm39) |
D400G |
probably damaging |
Het |
Cdc73 |
T |
A |
1: 143,484,281 (GRCm39) |
H525L |
probably benign |
Het |
Cic |
G |
A |
7: 24,970,863 (GRCm39) |
R198Q |
possibly damaging |
Het |
Col5a2 |
T |
C |
1: 45,428,641 (GRCm39) |
|
probably null |
Het |
Col6a5 |
A |
G |
9: 105,825,566 (GRCm39) |
V9A |
unknown |
Het |
Cpsf7 |
A |
T |
19: 10,516,996 (GRCm39) |
D366V |
probably benign |
Het |
Cuedc2 |
T |
C |
19: 46,319,796 (GRCm39) |
E173G |
probably damaging |
Het |
D5Ertd579e |
T |
C |
5: 36,761,913 (GRCm39) |
E1318G |
probably damaging |
Het |
Ddx55 |
T |
C |
5: 124,704,560 (GRCm39) |
|
probably null |
Het |
Dennd1b |
T |
A |
1: 138,967,727 (GRCm39) |
|
probably null |
Het |
Dpy19l3 |
T |
C |
7: 35,424,723 (GRCm39) |
T111A |
probably benign |
Het |
Edn1 |
C |
A |
13: 42,460,282 (GRCm39) |
A179E |
probably benign |
Het |
Eif2b1 |
T |
C |
5: 124,712,775 (GRCm39) |
|
probably null |
Het |
Epha5 |
A |
G |
5: 84,479,085 (GRCm39) |
|
probably null |
Het |
Erc1 |
T |
A |
6: 119,750,783 (GRCm39) |
N466I |
probably damaging |
Het |
Ermp1 |
A |
G |
19: 29,590,228 (GRCm39) |
F825L |
probably damaging |
Het |
Fbh1 |
T |
C |
2: 11,774,637 (GRCm39) |
D36G |
probably damaging |
Het |
Fbxo41 |
G |
T |
6: 85,461,515 (GRCm39) |
F64L |
probably damaging |
Het |
Gabrb2 |
T |
C |
11: 42,312,216 (GRCm39) |
S14P |
probably benign |
Het |
Gm6505 |
A |
T |
3: 28,819,116 (GRCm39) |
|
noncoding transcript |
Het |
Ighv1-18 |
T |
A |
12: 114,646,328 (GRCm39) |
D91V |
probably damaging |
Het |
Imp3 |
A |
G |
9: 56,845,086 (GRCm39) |
D99G |
probably benign |
Het |
Iqub |
T |
C |
6: 24,449,768 (GRCm39) |
K699R |
probably benign |
Het |
Itpk1 |
A |
G |
12: 102,540,204 (GRCm39) |
V293A |
probably damaging |
Het |
Lrrc49 |
A |
T |
9: 60,509,916 (GRCm39) |
F157L |
probably damaging |
Het |
Mapk1ip1 |
T |
A |
7: 138,438,239 (GRCm39) |
T64S |
possibly damaging |
Het |
Mrpl9 |
T |
C |
3: 94,355,103 (GRCm39) |
L225P |
possibly damaging |
Het |
Ms4a14 |
A |
G |
19: 11,279,150 (GRCm39) |
L1136S |
possibly damaging |
Het |
Ms4a14 |
A |
T |
19: 11,279,246 (GRCm39) |
I1104K |
possibly damaging |
Het |
Nkain2 |
T |
C |
10: 32,278,264 (GRCm39) |
T54A |
probably damaging |
Het |
Ociad2 |
A |
G |
5: 73,483,642 (GRCm39) |
F60S |
probably damaging |
Het |
Or1e1f |
T |
C |
11: 73,855,772 (GRCm39) |
F113L |
probably benign |
Het |
Polk |
T |
A |
13: 96,620,094 (GRCm39) |
H723L |
probably damaging |
Het |
Prickle4 |
C |
A |
17: 47,999,698 (GRCm39) |
R285L |
possibly damaging |
Het |
Psmd2 |
A |
G |
16: 20,473,672 (GRCm39) |
N121S |
probably damaging |
Het |
Rab11fip5 |
T |
A |
6: 85,314,582 (GRCm39) |
S1212C |
probably damaging |
Het |
Rasgef1c |
T |
G |
11: 49,860,883 (GRCm39) |
M266R |
probably damaging |
Het |
Rpusd4 |
A |
G |
9: 35,181,369 (GRCm39) |
E155G |
possibly damaging |
Het |
Rrbp1 |
A |
G |
2: 143,831,703 (GRCm39) |
S155P |
probably damaging |
Het |
Safb2 |
T |
C |
17: 56,870,103 (GRCm39) |
Y991C |
possibly damaging |
Het |
Shank1 |
G |
A |
7: 44,006,240 (GRCm39) |
E1986K |
possibly damaging |
Het |
Slc22a14 |
A |
G |
9: 119,001,149 (GRCm39) |
F482L |
probably benign |
Het |
Slc35e3 |
T |
A |
10: 117,581,767 (GRCm39) |
M109L |
probably benign |
Het |
Slco4c1 |
T |
C |
1: 96,799,809 (GRCm39) |
N9S |
probably damaging |
Het |
Slco6b1 |
C |
T |
1: 96,875,356 (GRCm39) |
|
noncoding transcript |
Het |
Sptan1 |
A |
G |
2: 29,920,613 (GRCm39) |
|
probably null |
Het |
Sptlc2 |
T |
C |
12: 87,388,545 (GRCm39) |
|
probably null |
Het |
Stk10 |
C |
T |
11: 32,546,748 (GRCm39) |
P335L |
probably benign |
Het |
Strip1 |
A |
C |
3: 107,528,757 (GRCm39) |
L391R |
possibly damaging |
Het |
Tacr1 |
T |
A |
6: 82,534,134 (GRCm39) |
S387T |
probably benign |
Het |
Thbs2 |
A |
T |
17: 14,908,125 (GRCm39) |
F213I |
probably damaging |
Het |
Thbs3 |
A |
T |
3: 89,131,704 (GRCm39) |
Y692F |
probably benign |
Het |
Tktl2 |
C |
A |
8: 66,966,299 (GRCm39) |
A619E |
probably benign |
Het |
Tmc3 |
A |
T |
7: 83,271,686 (GRCm39) |
E946V |
possibly damaging |
Het |
Tmem132d |
A |
G |
5: 127,861,964 (GRCm39) |
V719A |
possibly damaging |
Het |
Trpa1 |
T |
C |
1: 14,968,302 (GRCm39) |
H488R |
probably damaging |
Het |
Tsfm |
TCACTCC |
TCACTCCACTCC |
10: 126,858,706 (GRCm39) |
|
probably null |
Het |
Wdr35 |
A |
G |
12: 9,056,723 (GRCm39) |
T503A |
possibly damaging |
Het |
Zfp109 |
T |
C |
7: 23,928,126 (GRCm39) |
K436E |
probably damaging |
Het |
Zfp423 |
A |
G |
8: 88,585,990 (GRCm39) |
Y78H |
probably damaging |
Het |
Zfp970 |
A |
G |
2: 177,165,151 (GRCm39) |
K26E |
probably 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 |
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'- TGTGACTCTGCTCTCAGACG -3'
(R):5'- CTGTGGCTGAGATTCTCTACGG -3'
Sequencing Primer
(F):5'- CTCTGCTCTCAGACGTAGATTTTGAG -3'
(R):5'- GCTGAGATTCTCTACGGAGGAG -3'
|
Posted On |
2016-12-15 |