Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01154:Cep135'

51216

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cep135

Ensembl Gene

ENSMUSG00000036403

Gene Name

centrosomal protein 135

Synonyms

Cep4, LOC381644

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01154

Quality Score

Status

Chromosome

Chromosomal Location

76736545-76794313 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 76754643 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000112602 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049060] [ENSMUST00000121979]

AlphaFold

Q6P5D4

Predicted Effect

probably benign
Transcript: ENSMUST00000049060

SMART Domains

Protein: ENSMUSP00000038674
Gene: ENSMUSG00000036403

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

SMART Domains

Protein: ENSMUSP00000112602
Gene: ENSMUSG00000036403

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

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110038F14Rik	G	A	15: 76,834,475 (GRCm39)	V124I	probably damaging	Het
2210408I21Rik	T	G	13: 77,429,213 (GRCm39)	F767V	probably benign	Het
A2m	C	A	6: 121,650,501 (GRCm39)	S1203*	probably null	Het
Abcc3	T	C	11: 94,250,058 (GRCm39)		probably benign	Het
Adamts13	T	C	2: 26,896,206 (GRCm39)	Y1200H	probably benign	Het
Aldh1l2	T	C	10: 83,356,237 (GRCm39)	D51G	probably damaging	Het
Apc2	A	G	10: 80,148,903 (GRCm39)	E1319G	possibly damaging	Het
Arap3	A	T	18: 38,129,787 (GRCm39)	S125T	probably benign	Het
Atp2b1	T	A	10: 98,832,750 (GRCm39)	V417E	probably damaging	Het
Bpifa1	T	A	2: 153,985,920 (GRCm39)	D78E	probably benign	Het
Catsperb	C	A	12: 101,591,940 (GRCm39)	A1090E	possibly damaging	Het
Ceacam9	C	A	7: 16,457,886 (GRCm39)	T138K	probably damaging	Het
Cenpf	T	A	1: 189,412,530 (GRCm39)	E244D	probably benign	Het
Cfap206	C	T	4: 34,721,562 (GRCm39)	S162N	probably damaging	Het
Col15a1	A	C	4: 47,208,450 (GRCm39)	T6P	possibly damaging	Het
Cyp11b1	T	A	15: 74,710,383 (GRCm39)	Q306L	probably benign	Het
Defa22	T	A	8: 21,653,053 (GRCm39)		probably null	Het
Dnah5	A	T	15: 28,458,802 (GRCm39)	T4480S	possibly damaging	Het
Fastkd1	T	C	2: 69,520,404 (GRCm39)		probably null	Het
Flt1	A	G	5: 147,512,966 (GRCm39)	Y1124H	possibly damaging	Het
Fsd1l	A	G	4: 53,701,074 (GRCm39)	M469V	probably benign	Het
Fxr2	T	C	11: 69,532,259 (GRCm39)		probably benign	Het
Gm10801	A	T	2: 98,494,328 (GRCm39)	Y135F	probably benign	Het
Grm4	A	T	17: 27,653,711 (GRCm39)	C699*	probably null	Het
Hcn4	A	G	9: 58,766,362 (GRCm39)	T677A	unknown	Het
Igkv9-123	G	T	6: 67,931,518 (GRCm39)		probably benign	Het
Irf4	T	A	13: 30,941,404 (GRCm39)	H253Q	possibly damaging	Het
Jakmip2	T	C	18: 43,723,744 (GRCm39)		probably benign	Het
Kmt2c	A	G	5: 25,489,397 (GRCm39)	V1134A	probably damaging	Het
Limch1	G	T	5: 66,903,301 (GRCm39)	E17*	probably null	Het
Nap1l1	T	A	10: 111,322,536 (GRCm39)	N72K	probably damaging	Het
Or4x11	T	C	2: 89,867,812 (GRCm39)	L183P	probably damaging	Het
Or51t4	T	C	7: 102,598,046 (GRCm39)	S115P	probably damaging	Het
Otud6b	A	T	4: 14,811,732 (GRCm39)	Y304N	probably damaging	Het
Pdcd10	A	C	3: 75,448,540 (GRCm39)	M8R	probably damaging	Het
Ppip5k1	T	C	2: 121,173,660 (GRCm39)	T404A	probably damaging	Het
Ppp2r2d	C	T	7: 138,483,940 (GRCm39)	A197V	probably benign	Het
Psg25	C	T	7: 18,258,624 (GRCm39)	D351N	probably benign	Het
Sbno1	A	T	5: 124,548,312 (GRCm39)	I87N	probably damaging	Het
Stfa2l1	C	T	16: 35,980,307 (GRCm39)		probably benign	Het
Sugp2	T	A	8: 70,695,349 (GRCm39)	D107E	probably damaging	Het
Syne1	G	T	10: 5,310,848 (GRCm39)	F576L	probably damaging	Het
Syne3	A	G	12: 104,924,328 (GRCm39)	F357S	probably benign	Het
Tenm2	A	G	11: 35,932,371 (GRCm39)	L1741P	probably damaging	Het
Tgs1	A	T	4: 3,585,473 (GRCm39)	K117*	probably null	Het
Tram1	C	T	1: 13,649,673 (GRCm39)		probably null	Het
Trank1	T	A	9: 111,215,468 (GRCm39)	D1799E	probably benign	Het
Ttc14	A	T	3: 33,857,248 (GRCm39)	Y198F	probably benign	Het
Ube3b	A	G	5: 114,544,313 (GRCm39)	N570S	probably null	Het
Ube4b	A	G	4: 149,449,927 (GRCm39)	F412S	probably benign	Het
Vac14	T	C	8: 111,380,239 (GRCm39)		probably benign	Het
Vmn2r65	T	C	7: 84,592,729 (GRCm39)	T493A	probably benign	Het
Zfp408	T	C	2: 91,478,351 (GRCm39)		probably benign	Het
Zfp580	C	T	7: 5,056,267 (GRCm39)	T209I	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
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
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

Posted On

2013-06-21