Incidental Mutation 'R7207:Cep135'
| ID |
560690 |
| 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 # |
R7207 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
76736545-76794313 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 76780090 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 807
(D807E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038674
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049060]
[ENSMUST00000121979]
|
| AlphaFold |
Q6P5D4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049060
AA Change: D807E
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000038674
Gene: ENSMUSG00000036403
AA Change: D807E
| 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: D807E
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000112602
Gene: ENSMUSG00000036403
AA Change: D807E
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 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, 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
A |
G |
6: 128,527,734 (GRCm39) |
Y1019H |
probably benign |
Het |
| Adam11 |
C |
A |
11: 102,662,883 (GRCm39) |
A212D |
probably benign |
Het |
| Adamts13 |
C |
A |
2: 26,868,707 (GRCm39) |
H230Q |
probably damaging |
Het |
| Adgrl3 |
G |
A |
5: 81,457,874 (GRCm39) |
M1I |
probably null |
Het |
| Agap1 |
A |
T |
1: 89,770,821 (GRCm39) |
H657L |
possibly damaging |
Het |
| Ano3 |
T |
C |
2: 110,611,768 (GRCm39) |
D238G |
probably damaging |
Het |
| Atp8b5 |
A |
T |
4: 43,357,018 (GRCm39) |
I589F |
probably damaging |
Het |
| Bmp1 |
C |
T |
14: 70,717,000 (GRCm39) |
A859T |
possibly damaging |
Het |
| Cdh20 |
C |
A |
1: 104,921,702 (GRCm39) |
D666E |
probably damaging |
Het |
| Cldn13 |
G |
A |
5: 134,943,766 (GRCm39) |
H140Y |
probably benign |
Het |
| Cnksr1 |
G |
T |
4: 133,962,434 (GRCm39) |
Q155K |
possibly damaging |
Het |
| Col1a1 |
G |
A |
11: 94,829,352 (GRCm39) |
R121Q |
unknown |
Het |
| Coro6 |
G |
A |
11: 77,358,089 (GRCm39) |
A225T |
possibly damaging |
Het |
| Ctse |
C |
A |
1: 131,592,112 (GRCm39) |
T146K |
possibly damaging |
Het |
| Dhrs7b |
C |
A |
11: 60,746,623 (GRCm39) |
Y237* |
probably null |
Het |
| Dnah3 |
A |
G |
7: 119,570,312 (GRCm39) |
F2303L |
probably damaging |
Het |
| Dsg2 |
T |
A |
18: 20,734,516 (GRCm39) |
D831E |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,202,418 (GRCm39) |
S575P |
probably damaging |
Het |
| Epg5 |
T |
C |
18: 77,992,170 (GRCm39) |
L289P |
probably damaging |
Het |
| Etl4 |
A |
G |
2: 20,714,387 (GRCm39) |
N162S |
probably damaging |
Het |
| Fbf1 |
A |
T |
11: 116,040,300 (GRCm39) |
Y602N |
probably benign |
Het |
| Fgd4 |
A |
T |
16: 16,302,420 (GRCm39) |
M45K |
probably benign |
Het |
| Fryl |
C |
T |
5: 73,222,438 (GRCm39) |
V2048I |
probably benign |
Het |
| Gulp1 |
T |
C |
1: 44,805,292 (GRCm39) |
V127A |
possibly damaging |
Het |
| H2-DMb1 |
T |
A |
17: 34,376,490 (GRCm39) |
I203N |
probably damaging |
Het |
| Harbi1 |
T |
C |
2: 91,542,790 (GRCm39) |
S84P |
probably damaging |
Het |
| Hrh2 |
T |
C |
13: 54,368,266 (GRCm39) |
S81P |
possibly damaging |
Het |
| Iars1 |
T |
C |
13: 49,841,791 (GRCm39) |
|
probably null |
Het |
| Kcnma1 |
T |
C |
14: 23,359,083 (GRCm39) |
*1087W |
probably null |
Het |
| Lama5 |
T |
A |
2: 179,848,877 (GRCm39) |
N241I |
probably damaging |
Het |
| Lig4 |
T |
A |
8: 10,022,101 (GRCm39) |
K560* |
probably null |
Het |
| Lpin3 |
G |
T |
2: 160,735,923 (GRCm39) |
E68* |
probably null |
Het |
| Mrtfb |
A |
T |
16: 13,144,300 (GRCm39) |
I7L |
probably benign |
Het |
| Msrb3 |
A |
T |
10: 120,627,305 (GRCm39) |
|
probably null |
Het |
| Muc5b |
A |
G |
7: 141,416,602 (GRCm39) |
T3183A |
probably benign |
Het |
| Mx1 |
T |
A |
16: 97,253,398 (GRCm39) |
D342V |
probably benign |
Het |
| Nrap |
G |
T |
19: 56,333,953 (GRCm39) |
T1003K |
probably damaging |
Het |
| Or8u10 |
A |
G |
2: 85,915,159 (GRCm39) |
S321P |
possibly damaging |
Het |
| Plxna2 |
C |
T |
1: 194,326,327 (GRCm39) |
P87L |
probably damaging |
Het |
| Pms2 |
C |
T |
5: 143,850,452 (GRCm39) |
T89I |
probably damaging |
Het |
| Ppp1r12c |
C |
A |
7: 4,492,867 (GRCm39) |
R203L |
probably damaging |
Het |
| Pramel31 |
A |
G |
4: 144,088,473 (GRCm39) |
T90A |
probably benign |
Het |
| Rab44 |
C |
T |
17: 29,357,013 (GRCm39) |
Q48* |
probably null |
Het |
| Rgs14 |
T |
C |
13: 55,531,047 (GRCm39) |
V417A |
probably benign |
Het |
| Sgms1 |
T |
A |
19: 32,120,147 (GRCm39) |
K253M |
probably null |
Het |
| Sidt2 |
T |
C |
9: 45,856,449 (GRCm39) |
Y492C |
probably damaging |
Het |
| Slco1a5 |
G |
T |
6: 142,194,475 (GRCm39) |
Y389* |
probably null |
Het |
| Slfn14 |
G |
A |
11: 83,170,214 (GRCm39) |
Q477* |
probably null |
Het |
| Sorbs3 |
T |
C |
14: 70,438,934 (GRCm39) |
K142R |
probably damaging |
Het |
| Sphk1 |
A |
T |
11: 116,426,590 (GRCm39) |
D182V |
probably damaging |
Het |
| Srsf9 |
C |
G |
5: 115,465,481 (GRCm39) |
Y38* |
probably null |
Het |
| Stk40 |
A |
C |
4: 126,019,547 (GRCm39) |
E107A |
probably damaging |
Het |
| Syngr4 |
T |
C |
7: 45,538,101 (GRCm39) |
Y89C |
possibly damaging |
Het |
| Tead1 |
G |
A |
7: 112,441,287 (GRCm39) |
R109H |
possibly damaging |
Het |
| Thra |
A |
G |
11: 98,651,802 (GRCm39) |
Q108R |
probably damaging |
Het |
| Tnni3k |
G |
A |
3: 154,580,782 (GRCm39) |
T621I |
probably damaging |
Het |
| Trim3 |
A |
C |
7: 105,262,583 (GRCm39) |
V525G |
possibly damaging |
Het |
| Usp49 |
T |
C |
17: 47,989,802 (GRCm39) |
V529A |
probably benign |
Het |
| Vill |
A |
T |
9: 118,900,281 (GRCm39) |
Q849L |
possibly damaging |
Het |
| Vps36 |
T |
A |
8: 22,701,623 (GRCm39) |
S237T |
probably benign |
Het |
| Zar1l |
A |
T |
5: 150,430,558 (GRCm39) |
C284* |
probably null |
Het |
| Zfp948 |
T |
C |
17: 21,808,602 (GRCm39) |
V598A |
possibly damaging |
Het |
| Zfp952 |
T |
C |
17: 33,222,489 (GRCm39) |
Y323H |
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 |
|
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 |
|
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'- TTTCAGTCAGTGTCCAAGGGC -3'
(R):5'- TCCCTCAAGGAGTTACCCTG -3'
Sequencing Primer
(F):5'- TCAGTGTCCAAGGGCAGCATG -3'
(R):5'- AGGAGTTACCCTGCTTACCTTCAAC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation