Incidental Mutation 'R7369:Cep135'
| ID |
571990 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cep135
|
| Ensembl Gene |
ENSMUSG00000036403 |
| Gene Name |
centrosomal protein 135 |
| Synonyms |
Cep4, LOC381644 |
| MMRRC Submission |
045453-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7369 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
76736545-76794313 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 76741100 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamine
at position 59
(K59Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038674
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049060]
[ENSMUST00000121979]
|
| AlphaFold |
Q6P5D4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000049060
AA Change: K59Q
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000038674
Gene: ENSMUSG00000036403
AA Change: K59Q
| 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: K59Q
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000112602
Gene: ENSMUSG00000036403
AA Change: K59Q
| 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: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (77/77) |
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700020L13Rik |
C |
T |
7: 29,989,377 (GRCm39) |
L196F |
unknown |
Het |
| Ahr |
A |
T |
12: 35,554,659 (GRCm39) |
W487R |
possibly damaging |
Het |
| Apaf1 |
A |
G |
10: 90,836,898 (GRCm39) |
S1060P |
probably damaging |
Het |
| Atf7 |
G |
T |
15: 102,462,244 (GRCm39) |
P126H |
probably damaging |
Het |
| B3gnt5 |
C |
A |
16: 19,588,410 (GRCm39) |
Q210K |
probably benign |
Het |
| Begain |
T |
C |
12: 108,999,853 (GRCm39) |
Y306C |
possibly damaging |
Het |
| Car5a |
T |
C |
8: 122,650,573 (GRCm39) |
K157R |
probably benign |
Het |
| Car5b |
A |
C |
X: 162,797,836 (GRCm39) |
S35R |
probably benign |
Het |
| Cdh6 |
A |
G |
15: 13,042,724 (GRCm39) |
V478A |
probably damaging |
Het |
| Cdyl |
A |
G |
13: 35,999,992 (GRCm39) |
E91G |
probably damaging |
Het |
| Clec2m |
T |
A |
6: 129,308,496 (GRCm39) |
Q11L |
possibly damaging |
Het |
| Cnot3 |
T |
A |
7: 3,656,330 (GRCm39) |
D205E |
possibly damaging |
Het |
| Dgkd |
G |
A |
1: 87,849,344 (GRCm39) |
G379R |
probably damaging |
Het |
| Dppa1 |
T |
A |
11: 46,506,944 (GRCm39) |
|
probably null |
Het |
| Dsp |
G |
T |
13: 38,381,501 (GRCm39) |
V2749F |
possibly damaging |
Het |
| E2f4 |
A |
G |
8: 106,026,966 (GRCm39) |
K177E |
probably benign |
Het |
| Efcab5 |
G |
A |
11: 77,008,661 (GRCm39) |
P819L |
possibly damaging |
Het |
| Ercc5 |
T |
A |
1: 44,220,020 (GRCm39) |
S1097R |
probably benign |
Het |
| Erp44 |
T |
C |
4: 48,218,183 (GRCm39) |
N162S |
probably benign |
Het |
| Evl |
A |
G |
12: 108,652,824 (GRCm39) |
Y423C |
unknown |
Het |
| Fam78a |
T |
A |
2: 31,959,699 (GRCm39) |
N137I |
probably damaging |
Het |
| Fcrl2 |
T |
C |
3: 87,164,008 (GRCm39) |
N374D |
possibly damaging |
Het |
| Fcrla |
T |
G |
1: 170,749,886 (GRCm39) |
D57A |
probably benign |
Het |
| Gm7145 |
A |
T |
1: 117,913,838 (GRCm39) |
H240L |
probably benign |
Het |
| Kdm5a |
T |
A |
6: 120,408,965 (GRCm39) |
N1549K |
possibly damaging |
Het |
| Kirrel1 |
C |
T |
3: 87,048,391 (GRCm39) |
R9H |
probably benign |
Het |
| Klf7 |
T |
C |
1: 64,160,300 (GRCm39) |
|
probably null |
Het |
| Lce1d |
G |
A |
3: 92,593,390 (GRCm39) |
Q8* |
probably null |
Het |
| Lcn4 |
T |
C |
2: 26,557,906 (GRCm39) |
H180R |
probably benign |
Het |
| Lmntd1 |
T |
A |
6: 145,359,301 (GRCm39) |
Y283F |
probably damaging |
Het |
| Lrp1b |
C |
T |
2: 41,172,051 (GRCm39) |
R1646K |
|
Het |
| Map3k21 |
C |
A |
8: 126,637,855 (GRCm39) |
A147E |
possibly damaging |
Het |
| Mapk8ip2 |
T |
C |
15: 89,338,454 (GRCm39) |
S11P |
probably benign |
Het |
| Mdn1 |
T |
A |
4: 32,773,375 (GRCm39) |
F5518L |
probably damaging |
Het |
| Msh3 |
T |
A |
13: 92,435,770 (GRCm39) |
T510S |
probably benign |
Het |
| Myh1 |
A |
T |
11: 67,111,524 (GRCm39) |
Q1654H |
probably damaging |
Het |
| Ncbp3 |
T |
C |
11: 72,968,747 (GRCm39) |
V506A |
probably benign |
Het |
| Nfkbiz |
A |
G |
16: 55,642,209 (GRCm39) |
S70P |
probably damaging |
Het |
| Nmi |
T |
C |
2: 51,840,096 (GRCm39) |
D215G |
possibly damaging |
Het |
| Nphp3 |
T |
C |
9: 103,895,449 (GRCm39) |
S496P |
probably damaging |
Het |
| Nrp1 |
T |
A |
8: 129,158,396 (GRCm39) |
C228S |
probably damaging |
Het |
| Or6c5c |
A |
T |
10: 129,299,390 (GRCm39) |
M282L |
probably benign |
Het |
| Pcdh9 |
C |
A |
14: 94,123,803 (GRCm39) |
R789L |
possibly damaging |
Het |
| Pigr |
A |
T |
1: 130,769,503 (GRCm39) |
T105S |
probably benign |
Het |
| Polr2a |
A |
C |
11: 69,636,803 (GRCm39) |
S383A |
probably benign |
Het |
| Prr35 |
G |
A |
17: 26,166,934 (GRCm39) |
S201L |
probably damaging |
Het |
| Psd3 |
T |
A |
8: 68,356,818 (GRCm39) |
H634L |
possibly damaging |
Het |
| Ptgr2 |
T |
G |
12: 84,339,080 (GRCm39) |
|
probably benign |
Het |
| Ptk6 |
A |
G |
2: 180,840,254 (GRCm39) |
Y251H |
possibly damaging |
Het |
| Rnf213 |
A |
G |
11: 119,321,294 (GRCm39) |
T1251A |
|
Het |
| Rtkn2 |
A |
G |
10: 67,877,259 (GRCm39) |
K443E |
probably damaging |
Het |
| Rundc3a |
T |
A |
11: 102,290,721 (GRCm39) |
L268Q |
probably damaging |
Het |
| Serpinb5 |
A |
G |
1: 106,802,879 (GRCm39) |
E138G |
probably benign |
Het |
| Shroom1 |
A |
T |
11: 53,356,075 (GRCm39) |
D375V |
probably benign |
Het |
| Siglecf |
A |
G |
7: 43,001,241 (GRCm39) |
T70A |
probably damaging |
Het |
| Slc20a2 |
A |
T |
8: 23,051,416 (GRCm39) |
E483V |
probably benign |
Het |
| Slc49a3 |
A |
G |
5: 108,593,394 (GRCm39) |
V148A |
probably benign |
Het |
| Sort1 |
G |
A |
3: 108,258,996 (GRCm39) |
G676D |
probably damaging |
Het |
| Spef2 |
T |
C |
15: 9,584,293 (GRCm39) |
S1581G |
probably benign |
Het |
| Stx6 |
C |
T |
1: 155,073,130 (GRCm39) |
R214* |
probably null |
Het |
| Stxbp5l |
A |
G |
16: 36,954,703 (GRCm39) |
I950T |
probably benign |
Het |
| Tdrd7 |
T |
A |
4: 46,013,239 (GRCm39) |
C660S |
possibly damaging |
Het |
| Tgm4 |
T |
A |
9: 122,885,749 (GRCm39) |
|
probably null |
Het |
| Tmem67 |
T |
C |
4: 12,053,535 (GRCm39) |
Y671C |
probably damaging |
Het |
| Ttc6 |
A |
T |
12: 57,719,717 (GRCm39) |
|
probably null |
Het |
| Tut7 |
A |
G |
13: 59,929,867 (GRCm39) |
I1458T |
possibly damaging |
Het |
| Uba2 |
A |
G |
7: 33,850,239 (GRCm39) |
S405P |
possibly damaging |
Het |
| Usp34 |
T |
C |
11: 23,382,361 (GRCm39) |
I2043T |
|
Het |
| Vmn1r12 |
T |
A |
6: 57,136,683 (GRCm39) |
I260N |
possibly damaging |
Het |
| Vmn1r172 |
C |
T |
7: 23,360,030 (GRCm39) |
T305I |
unknown |
Het |
| Vmn2r24 |
T |
C |
6: 123,792,638 (GRCm39) |
V655A |
probably damaging |
Het |
| Wdr33 |
T |
C |
18: 32,019,719 (GRCm39) |
S464P |
probably benign |
Het |
| Zfp260 |
T |
A |
7: 29,804,750 (GRCm39) |
C217S |
probably damaging |
Het |
| Zfp760 |
A |
G |
17: 21,942,214 (GRCm39) |
E463G |
probably benign |
Het |
| Zhx1 |
A |
G |
15: 57,916,696 (GRCm39) |
Y517H |
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 |
|
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 |
|
|
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'- GACCCTTTGATACCCTGAAAGAAC -3'
(R):5'- AGGGACATTAGCCTTTTCCAC -3'
Sequencing Primer
(F):5'- TTTGATACCCTGAAAGAACCCTAAC -3'
(R):5'- CTGAGCATTCTCTGAGCT -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation