Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02178:Cep135'

283214

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 #

IGL02178

Quality Score

Status

Chromosome

Chromosomal Location

76736545-76794313 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 76743321 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 185 (Y185C)

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: Y185C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000038674
Gene: ENSMUSG00000036403
AA Change: Y185C

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: Y185C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000112602
Gene: ENSMUSG00000036403
AA Change: Y185C

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	A	14: 32,384,418 (GRCm39)	T516S	possibly damaging	Het
6820408C15Rik	T	C	2: 152,269,921 (GRCm39)		probably benign	Het
Ak5	T	C	3: 152,232,422 (GRCm39)	D331G	probably benign	Het
Ar	A	G	X: 97,349,044 (GRCm39)	D675G	probably damaging	Het
Arhgap23	A	G	11: 97,343,179 (GRCm39)	D276G	probably benign	Het
Arhgef3	C	T	14: 26,987,486 (GRCm39)	R40*	probably null	Het
Atp1b4	G	T	X: 37,421,695 (GRCm39)	R293L	possibly damaging	Het
Borcs8	T	C	8: 70,617,897 (GRCm39)	L85P	probably damaging	Het
Carmil1	T	G	13: 24,278,386 (GRCm39)	K194N	probably damaging	Het
Catsper4	T	A	4: 133,954,637 (GRCm39)	K4N	probably benign	Het
Ccdc30	T	C	4: 119,206,921 (GRCm39)		probably benign	Het
Cd101	A	G	3: 100,901,082 (GRCm39)	S997P	probably damaging	Het
Cdkl5	G	A	X: 159,599,889 (GRCm39)	T792I	probably benign	Het
Clcn5	A	G	X: 7,052,563 (GRCm39)	Y59H	possibly damaging	Het
Col6a1	A	T	10: 76,546,909 (GRCm39)	I771N	unknown	Het
Crispld1	C	T	1: 17,832,327 (GRCm39)		probably benign	Het
Fbxl13	A	G	5: 21,825,718 (GRCm39)	I128T	possibly damaging	Het
Gga1	T	A	15: 78,776,247 (GRCm39)	M430K	probably benign	Het
Has2	A	G	15: 56,545,456 (GRCm39)	Y49H	probably damaging	Het
Ivd	A	G	2: 118,701,915 (GRCm39)	I116V	probably benign	Het
Krt75	T	C	15: 101,481,226 (GRCm39)	N183D	probably benign	Het
Map3k9	A	T	12: 81,790,611 (GRCm39)	I314N	probably damaging	Het
Map6d1	T	G	16: 20,055,448 (GRCm39)	E129D	probably damaging	Het
Mettl22	T	C	16: 8,296,146 (GRCm39)	V145A	probably benign	Het
Muc5ac	T	A	7: 141,359,184 (GRCm39)		probably benign	Het
Mycbp2	A	G	14: 103,461,802 (GRCm39)	F1416L	probably benign	Het
Nlrc4	T	C	17: 74,753,838 (GRCm39)	I182V	probably damaging	Het
Or5b21	T	A	19: 12,839,907 (GRCm39)	I256N	possibly damaging	Het
Or7a35	T	C	10: 78,853,554 (GRCm39)	Y133H	possibly damaging	Het
Phc3	T	C	3: 30,984,012 (GRCm39)	T668A	possibly damaging	Het
Pheta2	T	A	15: 82,227,527 (GRCm39)	D15E	possibly damaging	Het
Ppp2r2a	T	C	14: 67,260,546 (GRCm39)	Y244C	probably damaging	Het
Prkcq	A	C	2: 11,281,851 (GRCm39)	Y460S	possibly damaging	Het
Prmt8	T	A	6: 127,674,770 (GRCm39)	E286V	probably benign	Het
Ptprb	A	T	10: 116,158,437 (GRCm39)	M503L	probably benign	Het
Ptprq	A	T	10: 107,522,180 (GRCm39)	D590E	probably benign	Het
Ror2	C	T	13: 53,264,764 (GRCm39)	S764N	probably damaging	Het
Rps6kc1	A	T	1: 190,604,033 (GRCm39)	S196R	possibly damaging	Het
Ryr3	A	G	2: 112,656,144 (GRCm39)	Y1951H	probably benign	Het
Sbno1	A	T	5: 124,538,258 (GRCm39)		probably null	Het
Sde2	T	G	1: 180,678,796 (GRCm39)	L20R	possibly damaging	Het
Slco1a5	A	T	6: 142,208,414 (GRCm39)	C81*	probably null	Het
Snx2	A	G	18: 53,332,857 (GRCm39)	E177G	possibly damaging	Het
Spg11	A	T	2: 121,927,783 (GRCm39)	V667D	probably damaging	Het
Tas2r115	T	C	6: 132,714,271 (GRCm39)	T227A	probably benign	Het
Tmed9	A	G	13: 55,741,108 (GRCm39)	H41R	possibly damaging	Het
Vmn1r35	T	G	6: 66,656,086 (GRCm39)	S28R	probably damaging	Het
Vmn2r110	A	C	17: 20,804,706 (GRCm39)		probably null	Het
Vstm2l	T	C	2: 157,777,337 (GRCm39)	Y72H	probably damaging	Het
Wdr38	A	T	2: 38,888,424 (GRCm39)	N7I	probably damaging	Het
Zbtb4	A	T	11: 69,667,255 (GRCm39)	R187*	probably null	Het
Zfp598	A	G	17: 24,896,517 (GRCm39)	D198G	probably damaging	Het
Zp2	G	T	7: 119,732,973 (GRCm39)	A629E	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
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

2015-04-16