Mutagenetix > Incidental Mutation

Incidental Mutation 'R8967:Cep135'

682793

Institutional Source

Beutler Lab

Gene Symbol

Cep135

Ensembl Gene

ENSMUSG00000036403

Gene Name

centrosomal protein 135

Synonyms

Cep4, LOC381644

MMRRC Submission

068801-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8967 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

76736545-76794313 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 76751165 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 337 (L337P)

Ref Sequence

ENSEMBL: ENSMUSP00000038674 (fasta)

Gene Model

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

AlphaFold

Q6P5D4

Predicted Effect

probably damaging
Transcript: ENSMUST00000049060
AA Change: L337P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000038674
Gene: ENSMUSG00000036403
AA Change: L337P

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: L337P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112602
Gene: ENSMUSG00000036403
AA Change: L337P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (52/52)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,242,696 (GRCm39)	S1520P	probably benign	Het
Abhd12	A	G	2: 150,679,351 (GRCm39)	Y291H	probably damaging	Het
Abr	C	A	11: 76,369,855 (GRCm39)	S178I	possibly damaging	Het
Akap13	T	A	7: 75,378,882 (GRCm39)	I422K	possibly damaging	Het
Arfgef2	A	T	2: 166,677,662 (GRCm39)	T185S	probably damaging	Het
Arfip2	A	T	7: 105,286,341 (GRCm39)	Y228N	probably damaging	Het
B4gat1	T	C	19: 5,089,678 (GRCm39)	V225A	probably damaging	Het
Brf1	G	A	12: 112,937,239 (GRCm39)	P183S	probably damaging	Het
Ceacam1	T	C	7: 25,163,297 (GRCm39)	N312S	possibly damaging	Het
Cnppd1	A	T	1: 75,113,265 (GRCm39)	C334*	probably null	Het
Cpxm2	A	T	7: 131,661,564 (GRCm39)	Y408N	probably damaging	Het
Dennd3	T	C	15: 73,419,426 (GRCm39)	V739A	possibly damaging	Het
Dlx3	T	C	11: 95,014,577 (GRCm39)	Y287H	probably damaging	Het
Dnah7a	A	T	1: 53,682,594 (GRCm39)		probably benign	Het
Dnah9	C	A	11: 66,015,938 (GRCm39)		probably null	Het
Dnai3	T	A	3: 145,761,395 (GRCm39)	N654Y	possibly damaging	Het
Dnajc1	A	T	2: 18,313,757 (GRCm39)	Y121*	probably null	Het
Ecel1	A	T	1: 87,078,862 (GRCm39)	Y526N	probably damaging	Het
Ect2	A	T	3: 27,199,132 (GRCm39)	V218E	probably damaging	Het
Heca	A	G	10: 17,790,738 (GRCm39)		probably null	Het
Hsd17b7	A	T	1: 169,796,685 (GRCm39)	L6*	probably null	Het
Irgc	T	A	7: 24,132,737 (GRCm39)	T27S	probably benign	Het
Lama3	A	C	18: 12,665,096 (GRCm39)	I671L	possibly damaging	Het
Mybl2	T	C	2: 162,914,806 (GRCm39)	L308P	probably damaging	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nphp1	G	A	2: 127,582,897 (GRCm39)	P672L	probably damaging	Het
Oas3	G	A	5: 120,896,907 (GRCm39)	H905Y	probably damaging	Het
Obscn	A	G	11: 58,972,740 (GRCm39)	V2102A	probably benign	Het
Or10j3	A	G	1: 173,031,039 (GRCm39)	T39A	probably benign	Het
Or1j20	A	T	2: 36,760,066 (GRCm39)	T163S	probably damaging	Het
Or2a57	T	C	6: 43,213,073 (GRCm39)	F177S	probably damaging	Het
Or4p8	A	T	2: 88,727,844 (GRCm39)	Y32*	probably null	Het
Or6z7	A	G	7: 6,484,011 (GRCm39)	L48P	possibly damaging	Het
Pank4	C	G	4: 155,055,415 (GRCm39)	H262D	probably benign	Het
Phkb	T	A	8: 86,756,063 (GRCm39)		probably benign	Het
Pxylp1	G	A	9: 96,707,324 (GRCm39)	T286M	probably damaging	Het
Pygm	A	T	19: 6,434,744 (GRCm39)	D79V	probably damaging	Het
Rapgef4	A	G	2: 72,056,854 (GRCm39)	T682A	possibly damaging	Het
Sec24b	C	T	3: 129,785,084 (GRCm39)	R974Q	probably damaging	Het
Serpinb6e	A	G	13: 34,020,419 (GRCm39)	F230L	possibly damaging	Het
Skint6	A	T	4: 112,729,701 (GRCm39)	L850*	probably null	Het
Slc7a11	C	A	3: 50,338,564 (GRCm39)	V282L	probably benign	Het
Smg1	A	G	7: 117,765,739 (GRCm39)	S1895P	unknown	Het
Tango2	A	G	16: 18,165,763 (GRCm39)		probably benign	Het
Tmc7	G	A	7: 118,160,228 (GRCm39)	P203L	probably benign	Het
Tmem64	T	A	4: 15,266,575 (GRCm39)	F208L	probably damaging	Het
Tpcn1	A	T	5: 120,694,023 (GRCm39)	V191E	probably damaging	Het
Zbtb41	A	G	1: 139,370,587 (GRCm39)	I675V	probably benign	Het
Zfp180	T	C	7: 23,804,726 (GRCm39)	S382P	probably damaging	Het
Zfp932	A	G	5: 110,156,883 (GRCm39)	S194G	probably benign	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
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
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

Predicted Primers

PCR Primer
(F):5'- AGGTTGACTTCCTCCAGCAAG -3'
(R):5'- TCTTAGAGGGTGGAAATGATGC -3'

Sequencing Primer
(F):5'- TGACTTCCTCCAGCAAGCTAATAAAG -3'
(R):5'- GCGTGGTAGTGCACACCTTTAAAC -3'

Posted On

2021-10-11