Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01923:Cep135'

180155

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cep135

Ensembl Gene

ENSMUSG00000036403

Gene Name

centrosomal protein 135

Synonyms

LOC381644, Cep4

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01923

Quality Score

Status

Chromosome

Chromosomal Location

76588698-76646466 bp(+) (GRCm38)

Type of Mutation

makesense

DNA Base Change (assembly)

T to A at 76640982 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Lysine at position 1141 (*1141K)

Ref Sequence

ENSEMBL: ENSMUSP00000112602 (fasta)

Gene Model

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

AlphaFold

Q6P5D4

Predicted Effect

probably null
Transcript: ENSMUST00000049060
AA Change: *1141K

SMART Domains

Protein: ENSMUSP00000038674
Gene: ENSMUSG00000036403
AA Change: *1141K

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 null
Transcript: ENSMUST00000121979
AA Change: *1141K

SMART Domains

Protein: ENSMUSP00000112602
Gene: ENSMUSG00000036403
AA Change: *1141K

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrd1	T	A	5: 129,178,079 (GRCm38)	S597T	possibly damaging	Het
Btnl9	T	C	11: 49,180,582 (GRCm38)	D138G	probably benign	Het
Ctnnd2	A	T	15: 30,480,828 (GRCm38)	Q74L	probably damaging	Het
Cyp2j13	A	T	4: 96,062,057 (GRCm38)	W236R	probably benign	Het
Dixdc1	A	T	9: 50,695,503 (GRCm38)	I271N	possibly damaging	Het
Dlec1	A	G	9: 119,128,114 (GRCm38)		probably null	Het
Dnah9	C	A	11: 66,125,235 (GRCm38)		probably benign	Het
Dop1a	A	T	9: 86,522,867 (GRCm38)	Y275F	probably damaging	Het
Dysf	T	A	6: 84,210,829 (GRCm38)	*2105R	probably null	Het
Eif4a1	A	T	11: 69,672,303 (GRCm38)	D25E	possibly damaging	Het
Fras1	T	A	5: 96,735,280 (GRCm38)	I2557N	probably damaging	Het
Gm10717	C	T	9: 3,025,616 (GRCm38)	S67L	probably benign	Het
Gm12253	G	T	11: 58,434,901 (GRCm38)		probably null	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
Hsd17b7	A	G	1: 169,959,466 (GRCm38)	V254A	probably benign	Het
Kif21a	T	A	15: 90,956,430 (GRCm38)	D143V	probably damaging	Het
Lrrc9	T	C	12: 72,510,412 (GRCm38)	V1417A	possibly damaging	Het
Macf1	C	T	4: 123,380,444 (GRCm38)	A4926T	possibly damaging	Het
Mef2a	A	C	7: 67,264,872 (GRCm38)	S91R	probably damaging	Het
Myh7	A	G	14: 54,985,459 (GRCm38)		probably null	Het
Or6c65	T	A	10: 129,768,104 (GRCm38)	F203I	probably benign	Het
Pbx2	A	G	17: 34,594,050 (GRCm38)	D160G	probably damaging	Het
Pcdhb17	T	C	18: 37,486,737 (GRCm38)	F527L	probably benign	Het
Ppm1b	T	C	17: 84,994,061 (GRCm38)	L123P	probably damaging	Het
Ppm1k	T	A	6: 57,522,828 (GRCm38)	K154N	probably benign	Het
Ppp2r1a	T	G	17: 20,965,469 (GRCm38)	*590G	probably null	Het
Raver1	A	T	9: 21,079,240 (GRCm38)	L589Q	probably damaging	Het
Rrbp1	A	G	2: 143,990,161 (GRCm38)	S29P	probably damaging	Het
Senp5	A	G	16: 31,965,816 (GRCm38)	Y673H	probably damaging	Het
Serpina3j	T	A	12: 104,315,214 (GRCm38)		probably benign	Het
Serpinc1	A	G	1: 160,989,546 (GRCm38)	E70G	probably damaging	Het
Sp140l2	A	G	1: 85,254,186 (GRCm38)		probably benign	Het
Stag3	A	G	5: 138,289,230 (GRCm38)	Q139R	probably damaging	Het
Sva	T	A	6: 42,042,170 (GRCm38)	H91Q	probably benign	Het
Tmem263	C	T	10: 85,114,431 (GRCm38)	Q29*	probably null	Het
Tpp1	T	C	7: 105,751,650 (GRCm38)	N57D	probably benign	Het
Vmn2r129	C	T	4: 156,338,254 (GRCm38)		noncoding transcript	Het
Vmn2r27	T	A	6: 124,200,525 (GRCm38)	I507L	probably benign	Het
Wdr11	A	T	7: 129,632,322 (GRCm38)		probably null	Het
Zfp236	C	T	18: 82,682,219 (GRCm38)	E42K	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
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
R1167:Cep135	UTSW	5	76,624,637 (GRCm38)	missense	probably damaging	1.00
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

Posted On

2014-05-07