Incidental Mutation 'R1167:Cep135'
| ID |
101096 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cep135
|
| Ensembl Gene |
ENSMUSG00000036403 |
| Gene Name |
centrosomal protein 135 |
| Synonyms |
LOC381644, Cep4 |
| MMRRC Submission |
039240-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1167 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
76588698-76646466 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 76624637 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 623
(E623G)
|
| 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: E623G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000038674
Gene: ENSMUSG00000036403
AA Change: E623G
| 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: E623G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112602
Gene: ENSMUSG00000036403
AA Change: E623G
| 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 |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.3%
|
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930433I11Rik |
A |
T |
7: 40,993,579 (GRCm38) |
D315V |
probably damaging |
Het |
| 4931440F15Rik |
C |
T |
11: 29,823,567 (GRCm38) |
R630H |
probably damaging |
Het |
| Acr |
T |
C |
15: 89,573,974 (GRCm38) |
I286T |
probably damaging |
Het |
| Adnp |
A |
G |
2: 168,184,500 (GRCm38) |
S292P |
probably benign |
Het |
| Apol6 |
T |
A |
15: 77,047,108 (GRCm38) |
Y17* |
probably null |
Het |
| Arhgap22 |
A |
G |
14: 33,343,307 (GRCm38) |
|
probably null |
Het |
| Bfar |
A |
G |
16: 13,698,894 (GRCm38) |
K202E |
possibly damaging |
Het |
| Bmpr2 |
A |
T |
1: 59,859,304 (GRCm38) |
S470C |
probably damaging |
Het |
| Clcn3 |
A |
G |
8: 60,922,788 (GRCm38) |
|
probably null |
Het |
| Clptm1 |
A |
T |
7: 19,634,211 (GRCm38) |
M523K |
probably damaging |
Het |
| Cyp26b1 |
A |
G |
6: 84,584,330 (GRCm38) |
W117R |
probably damaging |
Het |
| Dnmt3c |
T |
G |
2: 153,711,781 (GRCm38) |
|
probably null |
Het |
| Dst |
A |
G |
1: 34,223,858 (GRCm38) |
E2212G |
probably damaging |
Het |
| Edrf1 |
A |
G |
7: 133,644,066 (GRCm38) |
T238A |
probably benign |
Het |
| Elmo1 |
T |
C |
13: 20,185,455 (GRCm38) |
V10A |
probably damaging |
Het |
| Ermp1 |
A |
G |
19: 29,628,679 (GRCm38) |
S225P |
possibly damaging |
Het |
| Fes |
A |
T |
7: 80,383,109 (GRCm38) |
L296Q |
probably damaging |
Het |
| Foxn1 |
A |
T |
11: 78,359,066 (GRCm38) |
N544K |
probably damaging |
Het |
| Gga1 |
C |
G |
15: 78,888,170 (GRCm38) |
N223K |
probably damaging |
Het |
| Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 119,160,716 (GRCm38) |
|
probably null |
Het |
| Gm4884 |
A |
T |
7: 41,043,912 (GRCm38) |
Q435L |
possibly damaging |
Het |
| Gm8444 |
T |
C |
15: 81,843,380 (GRCm38) |
|
probably benign |
Het |
| Gm8882 |
G |
A |
6: 132,361,590 (GRCm38) |
P222S |
unknown |
Het |
| Ift140 |
T |
G |
17: 25,035,745 (GRCm38) |
S131A |
probably benign |
Het |
| Ipo4 |
A |
G |
14: 55,635,020 (GRCm38) |
L88P |
probably damaging |
Het |
| Itgal |
G |
A |
7: 127,300,939 (GRCm38) |
S123N |
probably damaging |
Het |
| Kcnn3 |
C |
T |
3: 89,564,952 (GRCm38) |
Q344* |
probably null |
Het |
| Lrrc8e |
A |
T |
8: 4,235,337 (GRCm38) |
M521L |
probably benign |
Het |
| Myocd |
G |
T |
11: 65,196,377 (GRCm38) |
D113E |
possibly damaging |
Het |
| Nek4 |
G |
A |
14: 30,974,345 (GRCm38) |
R499H |
possibly damaging |
Het |
| Notch3 |
T |
C |
17: 32,122,745 (GRCm38) |
D2011G |
possibly damaging |
Het |
| Ola1 |
A |
G |
2: 73,097,194 (GRCm38) |
V347A |
probably damaging |
Het |
| Olfr1037 |
A |
G |
2: 86,085,291 (GRCm38) |
V162A |
probably benign |
Het |
| Olfr1339 |
C |
A |
4: 118,734,632 (GRCm38) |
F34L |
possibly damaging |
Het |
| Olfr790 |
G |
A |
10: 129,501,150 (GRCm38) |
V89I |
probably benign |
Het |
| Oxct2b |
A |
G |
4: 123,117,585 (GRCm38) |
T433A |
probably damaging |
Het |
| P2ry14 |
T |
C |
3: 59,115,131 (GRCm38) |
R312G |
probably damaging |
Het |
| Pbrm1 |
A |
G |
14: 31,050,142 (GRCm38) |
N398D |
probably damaging |
Het |
| Pdc |
T |
C |
1: 150,333,245 (GRCm38) |
Y160H |
probably damaging |
Het |
| Pdlim2 |
C |
T |
14: 70,164,779 (GRCm38) |
R296H |
probably damaging |
Het |
| Pop4 |
A |
T |
7: 38,263,269 (GRCm38) |
D190E |
probably benign |
Het |
| R3hdm4 |
A |
G |
10: 79,912,073 (GRCm38) |
|
probably null |
Het |
| Rab1a |
C |
A |
11: 20,223,172 (GRCm38) |
T91K |
possibly damaging |
Het |
| Rad9a |
A |
G |
19: 4,197,502 (GRCm38) |
V215A |
possibly damaging |
Het |
| Rassf3 |
A |
G |
10: 121,416,254 (GRCm38) |
V84A |
probably damaging |
Het |
| Rftn2 |
G |
A |
1: 55,204,299 (GRCm38) |
T270M |
probably damaging |
Het |
| Rho |
A |
G |
6: 115,935,423 (GRCm38) |
T100A |
probably damaging |
Het |
| Rnft2 |
T |
C |
5: 118,228,882 (GRCm38) |
I264V |
possibly damaging |
Het |
| Robo3 |
A |
T |
9: 37,423,907 (GRCm38) |
Y567* |
probably null |
Het |
| Rpp14 |
T |
A |
14: 8,083,705 (GRCm38) |
|
probably null |
Het |
| Rtkn2 |
T |
C |
10: 67,997,620 (GRCm38) |
S98P |
probably damaging |
Het |
| Ryr2 |
A |
G |
13: 11,660,113 (GRCm38) |
V3376A |
possibly damaging |
Het |
| Sbf2 |
A |
T |
7: 110,364,549 (GRCm38) |
W1030R |
probably damaging |
Het |
| Setbp1 |
G |
A |
18: 78,857,236 (GRCm38) |
A1072V |
possibly damaging |
Het |
| Slc4a10 |
A |
G |
2: 62,228,574 (GRCm38) |
K142E |
probably damaging |
Het |
| Slc52a2 |
A |
G |
15: 76,539,591 (GRCm38) |
E40G |
probably benign |
Het |
| Slc8a2 |
A |
G |
7: 16,157,387 (GRCm38) |
N784S |
possibly damaging |
Het |
| Spats2l |
A |
T |
1: 57,943,111 (GRCm38) |
Q384L |
probably damaging |
Het |
| Steap4 |
A |
C |
5: 7,976,520 (GRCm38) |
K161T |
probably benign |
Het |
| Taf10 |
T |
C |
7: 105,743,231 (GRCm38) |
S188G |
probably benign |
Het |
| Tbc1d4 |
C |
T |
14: 101,608,019 (GRCm38) |
D148N |
probably damaging |
Het |
| Tenm2 |
T |
G |
11: 36,864,684 (GRCm38) |
K162N |
probably benign |
Het |
| Tmem147 |
A |
G |
7: 30,727,796 (GRCm38) |
V146A |
probably benign |
Het |
| Tnfsf8 |
A |
G |
4: 63,837,086 (GRCm38) |
S100P |
possibly damaging |
Het |
| Trim56 |
T |
C |
5: 137,112,520 (GRCm38) |
Y714C |
probably damaging |
Het |
| Ubxn8 |
A |
G |
8: 33,641,901 (GRCm38) |
S13P |
probably damaging |
Het |
| Usp49 |
A |
G |
17: 47,672,226 (GRCm38) |
D52G |
possibly damaging |
Het |
| Vegfc |
A |
C |
8: 54,186,043 (GRCm38) |
Y408S |
probably benign |
Het |
| Vmn2r77 |
A |
G |
7: 86,801,746 (GRCm38) |
N280S |
probably benign |
Het |
| Vmn2r8 |
T |
A |
5: 108,803,176 (GRCm38) |
L134F |
probably benign |
Het |
| Wdfy3 |
T |
A |
5: 101,875,931 (GRCm38) |
I2437F |
probably benign |
Het |
| Wwc2 |
A |
T |
8: 47,858,779 (GRCm38) |
L783* |
probably null |
Het |
| Zer1 |
C |
T |
2: 30,108,246 (GRCm38) |
R351H |
probably benign |
Het |
| Zfp715 |
A |
T |
7: 43,298,437 (GRCm38) |
F700I |
possibly damaging |
Het |
| Zfp995 |
G |
A |
17: 21,879,979 (GRCm38) |
H425Y |
probably damaging |
Het |
|
| Other mutations in Cep135 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00402:Cep135
|
APN |
5 |
76,601,459 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL01154:Cep135
|
APN |
5 |
76,606,796 (GRCm38) |
splice site |
probably benign |
|
|
IGL01323:Cep135
|
APN |
5 |
76,591,765 (GRCm38) |
missense |
probably benign |
0.29 |
|
IGL01599:Cep135
|
APN |
5 |
76,593,347 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
IGL01923:Cep135
|
APN |
5 |
76,640,982 (GRCm38) |
makesense |
probably null |
|
|
IGL02178:Cep135
|
APN |
5 |
76,595,474 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02276:Cep135
|
APN |
5 |
76,634,246 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02344:Cep135
|
APN |
5 |
76,616,821 (GRCm38) |
missense |
probably benign |
|
|
IGL02394:Cep135
|
APN |
5 |
76,631,471 (GRCm38) |
missense |
probably benign |
0.02 |
|
IGL02740:Cep135
|
APN |
5 |
76,638,268 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL02832:Cep135
|
APN |
5 |
76,640,949 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0026:Cep135
|
UTSW |
5 |
76,606,734 (GRCm38) |
nonsense |
probably null |
|
|
R0060:Cep135
|
UTSW |
5 |
76,621,350 (GRCm38) |
missense |
probably benign |
0.20 |
|
R0325:Cep135
|
UTSW |
5 |
76,615,743 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0336:Cep135
|
UTSW |
5 |
76,601,502 (GRCm38) |
missense |
probably benign |
0.07 |
|
R0564:Cep135
|
UTSW |
5 |
76,638,949 (GRCm38) |
missense |
probably benign |
0.03 |
|
R0564:Cep135
|
UTSW |
5 |
76,615,710 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0600:Cep135
|
UTSW |
5 |
76,621,305 (GRCm38) |
missense |
probably benign |
|
|
R0636:Cep135
|
UTSW |
5 |
76,615,657 (GRCm38) |
missense |
probably benign |
0.07 |
|
R0704:Cep135
|
UTSW |
5 |
76,630,949 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
R0835:Cep135
|
UTSW |
5 |
76,615,706 (GRCm38) |
missense |
probably benign |
0.40 |
|
R1015:Cep135
|
UTSW |
5 |
76,640,997 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1252:Cep135
|
UTSW |
5 |
76,594,115 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R1554:Cep135
|
UTSW |
5 |
76,634,213 (GRCm38) |
nonsense |
probably null |
|
|
R1770:Cep135
|
UTSW |
5 |
76,603,195 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R1804:Cep135
|
UTSW |
5 |
76,636,932 (GRCm38) |
missense |
probably benign |
0.22 |
|
R1968:Cep135
|
UTSW |
5 |
76,624,747 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
R1987:Cep135
|
UTSW |
5 |
76,597,428 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1996:Cep135
|
UTSW |
5 |
76,632,266 (GRCm38) |
missense |
probably benign |
0.08 |
|
R2004:Cep135
|
UTSW |
5 |
76,632,329 (GRCm38) |
critical splice donor site |
probably null |
|
|
R2178:Cep135
|
UTSW |
5 |
76,631,450 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2305:Cep135
|
UTSW |
5 |
76,595,389 (GRCm38) |
splice site |
probably benign |
|
|
R2679:Cep135
|
UTSW |
5 |
76,624,660 (GRCm38) |
missense |
probably benign |
|
|
R3125:Cep135
|
UTSW |
5 |
76,621,363 (GRCm38) |
critical splice donor site |
probably null |
|
|
R3623:Cep135
|
UTSW |
5 |
76,624,739 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4359:Cep135
|
UTSW |
5 |
76,611,714 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
R4407:Cep135
|
UTSW |
5 |
76,624,667 (GRCm38) |
missense |
probably benign |
|
|
R4561:Cep135
|
UTSW |
5 |
76,638,193 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R4666:Cep135
|
UTSW |
5 |
76,616,854 (GRCm38) |
missense |
probably benign |
|
|
R4945:Cep135
|
UTSW |
5 |
76,597,428 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5105:Cep135
|
UTSW |
5 |
76,594,092 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5117:Cep135
|
UTSW |
5 |
76,631,429 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5176:Cep135
|
UTSW |
5 |
76,637,026 (GRCm38) |
missense |
probably benign |
0.04 |
|
R5194:Cep135
|
UTSW |
5 |
76,615,777 (GRCm38) |
missense |
probably benign |
0.05 |
|
R5233:Cep135
|
UTSW |
5 |
76,591,843 (GRCm38) |
small deletion |
probably benign |
|
|
R5275:Cep135
|
UTSW |
5 |
76,593,204 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R5295:Cep135
|
UTSW |
5 |
76,593,204 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R5412:Cep135
|
UTSW |
5 |
76,616,862 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5427:Cep135
|
UTSW |
5 |
76,638,202 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5801:Cep135
|
UTSW |
5 |
76,630,676 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5975:Cep135
|
UTSW |
5 |
76,640,890 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R6087:Cep135
|
UTSW |
5 |
76,615,791 (GRCm38) |
critical splice donor site |
probably null |
|
|
R6176:Cep135
|
UTSW |
5 |
76,624,643 (GRCm38) |
missense |
probably benign |
|
|
R6210:Cep135
|
UTSW |
5 |
76,624,723 (GRCm38) |
missense |
probably benign |
0.15 |
|
R6456:Cep135
|
UTSW |
5 |
76,591,724 (GRCm38) |
start gained |
probably benign |
|
|
R6467:Cep135
|
UTSW |
5 |
76,621,340 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
R6622:Cep135
|
UTSW |
5 |
76,640,968 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6650:Cep135
|
UTSW |
5 |
76,633,701 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R6838:Cep135
|
UTSW |
5 |
76,632,215 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7028:Cep135
|
UTSW |
5 |
76,616,848 (GRCm38) |
missense |
probably benign |
|
|
R7049:Cep135
|
UTSW |
5 |
76,606,738 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7095:Cep135
|
UTSW |
5 |
76,594,058 (GRCm38) |
missense |
probably benign |
0.10 |
|
R7207:Cep135
|
UTSW |
5 |
76,632,243 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7330:Cep135
|
UTSW |
5 |
76,606,745 (GRCm38) |
nonsense |
probably null |
|
|
R7369:Cep135
|
UTSW |
5 |
76,593,253 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R7741:Cep135
|
UTSW |
5 |
76,630,970 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7850:Cep135
|
UTSW |
5 |
76,591,873 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7869:Cep135
|
UTSW |
5 |
76,640,956 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7923:Cep135
|
UTSW |
5 |
76,609,692 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R8303:Cep135
|
UTSW |
5 |
76,611,728 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8312:Cep135
|
UTSW |
5 |
76,636,899 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8424:Cep135
|
UTSW |
5 |
76,594,059 (GRCm38) |
missense |
possibly damaging |
0.64 |
|
R8490:Cep135
|
UTSW |
5 |
76,638,207 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8967:Cep135
|
UTSW |
5 |
76,603,318 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8968:Cep135
|
UTSW |
5 |
76,606,729 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R9126:Cep135
|
UTSW |
5 |
76,633,703 (GRCm38) |
missense |
probably benign |
0.08 |
|
R9726:Cep135
|
UTSW |
5 |
76,593,304 (GRCm38) |
missense |
probably benign |
|
|
Z1177:Cep135
|
UTSW |
5 |
76,591,826 (GRCm38) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
|
| Posted On |
2014-01-15 |
Incidental Mutation