Mutagenetix > Incidental Mutation

Incidental Mutation 'R0060:Cep135'

17130

Institutional Source

Beutler Lab

Gene Symbol

Cep135

Ensembl Gene

ENSMUSG00000036403

Gene Name

centrosomal protein 135

Synonyms

Cep4, LOC381644

MMRRC Submission

038353-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0060 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

76736545-76794313 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 76769197 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 616 (I616F)

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: I616F

PolyPhen 2 Score 0.201 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000038674
Gene: ENSMUSG00000036403
AA Change: I616F

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: I616F

PolyPhen 2 Score 0.201 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000112602
Gene: ENSMUSG00000036403
AA Change: I616F

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 90.4%
3x: 88.3%
10x: 83.8%
20x: 78.1%

Validation Efficiency

94% (74/79)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810065E05Rik	A	C	11: 58,313,008 (GRCm39)		probably benign	Het
4930432E11Rik	A	G	7: 29,273,595 (GRCm39)		noncoding transcript	Het
A630091E08Rik	A	G	7: 98,192,875 (GRCm39)		noncoding transcript	Het
Abca8a	T	C	11: 109,961,306 (GRCm39)	T539A	probably damaging	Het
Adam34	A	T	8: 44,128,920 (GRCm39)		probably benign	Het
Ankrd60	A	T	2: 173,414,406 (GRCm39)	M1K	probably null	Het
Cald1	T	C	6: 34,692,394 (GRCm39)		probably benign	Het
Capn7	T	C	14: 31,087,561 (GRCm39)		probably benign	Het
Cd109	G	A	9: 78,610,389 (GRCm39)	E1145K	probably damaging	Het
Celsr1	A	T	15: 85,806,399 (GRCm39)	V2353D	probably damaging	Het
Cep162	T	A	9: 87,119,878 (GRCm39)		probably benign	Het
Cep350	C	T	1: 155,804,372 (GRCm39)	D904N	probably damaging	Het
Cep85	T	C	4: 133,894,611 (GRCm39)	D65G	probably damaging	Het
Cfdp1	T	C	8: 112,566,986 (GRCm39)		probably benign	Het
Chl1	T	A	6: 103,688,019 (GRCm39)		probably benign	Het
Colec10	G	A	15: 54,302,542 (GRCm39)		probably benign	Het
Crxos	A	G	7: 15,632,448 (GRCm39)	T40A	possibly damaging	Het
Dnhd1	A	G	7: 105,317,721 (GRCm39)	D472G	probably damaging	Het
Dpp6	C	A	5: 27,803,817 (GRCm39)	N254K	probably damaging	Het
Eps8l3	T	C	3: 107,786,857 (GRCm39)	L11S	probably damaging	Het
Flad1	G	A	3: 89,309,552 (GRCm39)	R515*	probably null	Het
Fzd5	T	C	1: 64,774,835 (GRCm39)	T309A	probably benign	Het
Gm19685	T	C	17: 61,075,418 (GRCm39)			Het
Gsdme	A	G	6: 50,198,009 (GRCm39)	I317T	possibly damaging	Het
H2bc1	A	T	13: 24,117,928 (GRCm39)	I71N	possibly damaging	Het
Incenp	A	G	19: 9,862,823 (GRCm39)		probably benign	Het
Itgad	T	C	7: 127,802,158 (GRCm39)	S979P	probably damaging	Het
Kat2b	T	C	17: 53,961,571 (GRCm39)	V557A	probably damaging	Het
Lamc1	A	T	1: 153,117,614 (GRCm39)		probably benign	Het
Lgi4	G	A	7: 30,762,996 (GRCm39)	G157D	probably damaging	Het
Mga	T	C	2: 119,791,442 (GRCm39)		probably null	Het
Nubpl	T	C	12: 52,357,470 (GRCm39)		probably benign	Het
Or2b4	T	C	17: 38,116,891 (GRCm39)	L285P	probably damaging	Het
Or5be3	T	C	2: 86,864,118 (GRCm39)	Y149C	probably damaging	Het
Or8c20	C	T	9: 38,260,808 (GRCm39)	S143F	probably benign	Het
Peak1	A	T	9: 56,135,107 (GRCm39)	I78K	probably damaging	Het
Prune2	T	A	19: 16,981,097 (GRCm39)	F85I	probably damaging	Het
Rbm11	G	T	16: 75,395,667 (GRCm39)	D113Y	probably damaging	Het
Rif1	C	T	2: 52,001,129 (GRCm39)	R1528C	probably damaging	Het
Sema4d	A	G	13: 51,859,293 (GRCm39)		probably benign	Het
Slc30a4	T	A	2: 122,527,104 (GRCm39)	T381S	probably benign	Het
Slf2	G	T	19: 44,936,443 (GRCm39)	G696V	probably damaging	Het
Suv39h2	T	C	2: 3,465,953 (GRCm39)	Y134C	probably damaging	Het
Tmem273	C	A	14: 32,528,726 (GRCm39)		probably benign	Het
Tmem89	T	A	9: 108,744,485 (GRCm39)	V126D	probably damaging	Het
Trf	T	C	9: 103,098,121 (GRCm39)	T46A	probably benign	Het
Trmt6	C	T	2: 132,648,689 (GRCm39)	R415Q	possibly damaging	Het
Trp53bp1	T	C	2: 121,035,006 (GRCm39)	K1625E	probably damaging	Het
Usp6nl	T	A	2: 6,445,701 (GRCm39)	D559E	probably benign	Het
Wdr75	A	G	1: 45,855,777 (GRCm39)	D476G	probably benign	Het
Wrap53	A	C	11: 69,454,256 (GRCm39)	L261V	possibly damaging	Het
Zcchc4	T	A	5: 52,964,420 (GRCm39)	I292N	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
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
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

2013-01-20