Incidental Mutation 'R7028:Cep135'
| ID |
546118 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cep135
|
| Ensembl Gene |
ENSMUSG00000036403 |
| Gene Name |
centrosomal protein 135 |
| Synonyms |
Cep4, LOC381644 |
| MMRRC Submission |
045129-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7028 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
76736545-76794313 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 76764695 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 558
(T558A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112602
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049060]
[ENSMUST00000121979]
|
| AlphaFold |
Q6P5D4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049060
AA Change: T558A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000038674
Gene: ENSMUSG00000036403
AA Change: T558A
| 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: T558A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000112602
Gene: ENSMUSG00000036403
AA Change: T558A
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
A |
G |
2: 69,096,019 (GRCm39) |
I804T |
probably benign |
Het |
| Abcb1b |
A |
T |
5: 8,855,441 (GRCm39) |
E25V |
probably damaging |
Het |
| Adamts9 |
G |
T |
6: 92,886,774 (GRCm39) |
Y355* |
probably null |
Het |
| Akp3 |
A |
G |
1: 87,054,500 (GRCm39) |
M303V |
probably benign |
Het |
| Ankrd35 |
A |
T |
3: 96,590,650 (GRCm39) |
E312V |
possibly damaging |
Het |
| Arhgap40 |
T |
C |
2: 158,373,294 (GRCm39) |
|
probably null |
Het |
| Asxl1 |
T |
C |
2: 153,242,027 (GRCm39) |
L859P |
probably benign |
Het |
| Atat1 |
A |
G |
17: 36,220,897 (GRCm39) |
F11L |
probably benign |
Het |
| Bach1 |
G |
A |
16: 87,516,179 (GRCm39) |
R240Q |
probably benign |
Het |
| Ccdc7a |
A |
T |
8: 129,608,075 (GRCm39) |
H943Q |
unknown |
Het |
| Cfap99 |
A |
G |
5: 34,458,863 (GRCm39) |
E86G |
possibly damaging |
Het |
| Cfhr2 |
C |
T |
1: 139,758,801 (GRCm39) |
|
probably null |
Het |
| Cmtm1 |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
8: 105,036,102 (GRCm39) |
|
probably benign |
Het |
| Col17a1 |
G |
A |
19: 47,640,622 (GRCm39) |
P992L |
probably damaging |
Het |
| Col7a1 |
C |
T |
9: 108,792,331 (GRCm39) |
Q1294* |
probably null |
Het |
| Coq8b |
T |
A |
7: 26,939,293 (GRCm39) |
C148S |
probably damaging |
Het |
| Csmd2 |
A |
G |
4: 128,171,021 (GRCm39) |
N338S |
|
Het |
| Cspg5 |
T |
A |
9: 110,075,959 (GRCm39) |
S232T |
possibly damaging |
Het |
| Cyp2c67 |
A |
G |
19: 39,628,341 (GRCm39) |
V201A |
possibly damaging |
Het |
| Dlgap3 |
G |
A |
4: 127,089,310 (GRCm39) |
R302H |
possibly damaging |
Het |
| Dpy19l2 |
T |
C |
9: 24,539,547 (GRCm39) |
I469V |
probably benign |
Het |
| Fam135b |
T |
C |
15: 71,343,412 (GRCm39) |
D401G |
probably damaging |
Het |
| Gabbr1 |
G |
T |
17: 37,375,629 (GRCm39) |
G453* |
probably null |
Het |
| Gclc |
C |
A |
9: 77,695,498 (GRCm39) |
A440D |
probably damaging |
Het |
| Glyat |
T |
C |
19: 12,627,723 (GRCm39) |
I106T |
probably benign |
Het |
| Gm12185 |
T |
C |
11: 48,799,071 (GRCm39) |
N474S |
possibly damaging |
Het |
| Gm17079 |
T |
C |
14: 51,930,494 (GRCm39) |
H117R |
|
Het |
| Ift70a2 |
A |
T |
2: 75,806,613 (GRCm39) |
L633* |
probably null |
Het |
| Ildr2 |
A |
G |
1: 166,131,098 (GRCm39) |
D318G |
probably damaging |
Het |
| Kcnd2 |
G |
A |
6: 21,216,177 (GRCm39) |
|
probably benign |
Het |
| Kif19a |
C |
T |
11: 114,672,034 (GRCm39) |
T207M |
probably damaging |
Het |
| Kif3a |
G |
T |
11: 53,477,733 (GRCm39) |
G401* |
probably null |
Het |
| Lactbl1 |
T |
A |
4: 136,360,286 (GRCm39) |
L155Q |
probably damaging |
Het |
| Lrp1b |
T |
A |
2: 41,136,023 (GRCm39) |
D1649V |
probably benign |
Het |
| Lrrc37 |
C |
T |
11: 103,505,363 (GRCm39) |
A26T |
probably benign |
Het |
| Map2k1 |
A |
G |
9: 64,101,105 (GRCm39) |
V191A |
probably benign |
Het |
| Mdm4 |
A |
T |
1: 132,931,547 (GRCm39) |
C165S |
probably benign |
Het |
| Med27 |
G |
A |
2: 29,399,446 (GRCm39) |
W92* |
probably null |
Het |
| Muc20 |
A |
T |
16: 32,614,616 (GRCm39) |
S254T |
probably benign |
Het |
| Myh1 |
A |
G |
11: 67,111,247 (GRCm39) |
E1562G |
possibly damaging |
Het |
| Nlrp2 |
C |
G |
7: 5,331,571 (GRCm39) |
R275P |
possibly damaging |
Het |
| Notch2 |
T |
A |
3: 98,009,703 (GRCm39) |
N543K |
probably damaging |
Het |
| Nup214 |
T |
A |
2: 31,924,168 (GRCm39) |
S1566T |
probably benign |
Het |
| Nxnl1 |
T |
G |
8: 72,015,437 (GRCm39) |
E157A |
possibly damaging |
Het |
| Obscn |
A |
G |
11: 58,969,959 (GRCm39) |
L61P |
probably damaging |
Het |
| Ogg1 |
A |
T |
6: 113,306,237 (GRCm39) |
I145F |
probably damaging |
Het |
| Or10d5j |
T |
C |
9: 39,867,641 (GRCm39) |
T197A |
probably benign |
Het |
| Or2b2 |
A |
G |
13: 21,887,440 (GRCm39) |
K90E |
possibly damaging |
Het |
| Or2f1 |
G |
A |
6: 42,721,337 (GRCm39) |
R122H |
probably benign |
Het |
| Or51h5 |
T |
C |
7: 102,577,149 (GRCm39) |
F105L |
probably damaging |
Het |
| Pclo |
A |
G |
5: 14,763,461 (GRCm39) |
D3978G |
unknown |
Het |
| Pla2g4e |
T |
G |
2: 120,000,676 (GRCm39) |
D687A |
probably damaging |
Het |
| Pla2r1 |
T |
C |
2: 60,288,737 (GRCm39) |
K632E |
probably damaging |
Het |
| Plg |
A |
T |
17: 12,610,723 (GRCm39) |
Q212L |
probably damaging |
Het |
| Poldip3 |
A |
T |
15: 83,015,698 (GRCm39) |
N306K |
probably damaging |
Het |
| Pspn |
A |
G |
17: 57,306,978 (GRCm39) |
L13P |
possibly damaging |
Het |
| Ralgapa1 |
T |
C |
12: 55,804,844 (GRCm39) |
E484G |
probably damaging |
Het |
| Rbmxl1 |
G |
T |
8: 79,233,286 (GRCm39) |
T19K |
probably damaging |
Het |
| Rora |
G |
A |
9: 69,103,365 (GRCm39) |
V31I |
possibly damaging |
Het |
| Skint5 |
C |
A |
4: 113,798,036 (GRCm39) |
W182C |
probably damaging |
Het |
| Spata31d1c |
A |
T |
13: 65,183,877 (GRCm39) |
Q473L |
probably damaging |
Het |
| Tesk2 |
G |
A |
4: 116,659,884 (GRCm39) |
W334* |
probably null |
Het |
| Tmem67 |
C |
A |
4: 12,075,484 (GRCm39) |
V277L |
probably benign |
Het |
| Trhde |
A |
G |
10: 114,354,082 (GRCm39) |
M537T |
probably damaging |
Het |
| Tubb6 |
G |
A |
18: 67,534,981 (GRCm39) |
M293I |
probably benign |
Het |
| Ube2ql1 |
A |
T |
13: 69,886,873 (GRCm39) |
L196Q |
probably damaging |
Het |
| Ubn1 |
A |
T |
16: 4,873,188 (GRCm39) |
N70I |
probably damaging |
Het |
| Ubtf |
A |
T |
11: 102,205,806 (GRCm39) |
S40T |
probably benign |
Het |
| Virma |
C |
T |
4: 11,519,249 (GRCm39) |
A782V |
possibly damaging |
Het |
| Xdh |
G |
T |
17: 74,250,868 (GRCm39) |
T28K |
probably damaging |
Het |
| Xpo4 |
A |
G |
14: 57,834,508 (GRCm39) |
S691P |
probably benign |
Het |
| Zfat |
A |
C |
15: 68,052,301 (GRCm39) |
F491V |
probably damaging |
Het |
| Zfp623 |
T |
G |
15: 75,820,154 (GRCm39) |
V370G |
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 |
|
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'- CCCCTTACTATTTTGACAGGAGG -3'
(R):5'- CGAGTGCATGCTACTTTAACTTCC -3'
Sequencing Primer
(F):5'- TTGAGGCTGCCCAAGTTAAC -3'
(R):5'- ATGCTACTTTAACTTCCCCCAATAC -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation