Mutagenetix > Incidental Mutation

Incidental Mutation 'R2004:Cep135'

223342

Institutional Source

Beutler Lab

Gene Symbol

Cep135

Ensembl Gene

ENSMUSG00000036403

Gene Name

centrosomal protein 135

Synonyms

Cep4, LOC381644

MMRRC Submission

040013-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2004 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

76736545-76794313 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 76780176 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000112602 (fasta)

Gene Model

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

AlphaFold

Q6P5D4

Predicted Effect

probably null
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 null
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

probably null
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

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	A	T	6: 23,092,561 (GRCm39)	Y146*	probably null	Het
Adcy2	A	G	13: 68,944,722 (GRCm39)	L220P	probably damaging	Het
Agl	T	C	3: 116,574,914 (GRCm39)	Y660C	probably damaging	Het
Ak1	A	G	2: 32,519,622 (GRCm39)	T17A	probably benign	Het
Amph	G	A	13: 19,326,198 (GRCm39)	V643M	probably damaging	Het
Ankrd11	A	T	8: 123,629,161 (GRCm39)		probably null	Het
Ap5b1	T	C	19: 5,620,502 (GRCm39)	S641P	possibly damaging	Het
Apoc4	A	G	7: 19,415,304 (GRCm39)	M1T	probably null	Het
Arhgap5	T	C	12: 52,564,817 (GRCm39)	V596A	probably benign	Het
Ascc3	A	G	10: 50,493,838 (GRCm39)	E91G	probably damaging	Het
Bach2	T	A	4: 32,580,055 (GRCm39)	V637E	probably benign	Het
Bicd2	T	G	13: 49,532,881 (GRCm39)	L489R	possibly damaging	Het
Bltp1	C	T	3: 36,949,527 (GRCm39)	T2I	possibly damaging	Het
Boc	A	T	16: 44,322,007 (GRCm39)		probably null	Het
Cbln2	T	A	18: 86,734,791 (GRCm39)	V188D	probably damaging	Het
Ccl11	A	C	11: 81,953,123 (GRCm39)	T94P	probably damaging	Het
Cd109	A	T	9: 78,611,044 (GRCm39)	H1220L	probably benign	Het
Cd226	A	G	18: 89,265,435 (GRCm39)	I125V	probably benign	Het
Cgnl1	T	G	9: 71,537,821 (GRCm39)	E1233A	probably damaging	Het
Ckap5	T	A	2: 91,437,891 (GRCm39)	D1597E	possibly damaging	Het
Clptm1	A	G	7: 19,380,762 (GRCm39)	I63T	possibly damaging	Het
Cpsf7	C	T	19: 10,518,073 (GRCm39)	P428S	probably damaging	Het
Cuedc1	C	T	11: 88,068,216 (GRCm39)	P155S	probably damaging	Het
Dgkb	T	C	12: 38,134,228 (GRCm39)	Y45H	probably damaging	Het
Dglucy	T	C	12: 100,823,181 (GRCm39)	F459L	probably damaging	Het
Dmp1	T	A	5: 104,359,790 (GRCm39)	D155E	possibly damaging	Het
Dnah1	T	A	14: 31,023,813 (GRCm39)	I960F	possibly damaging	Het
Drosha	G	T	15: 12,915,467 (GRCm39)	M795I	probably damaging	Het
Dsg1b	A	G	18: 20,529,532 (GRCm39)	T326A	probably damaging	Het
Dusp16	T	G	6: 134,695,802 (GRCm39)	N343T	probably benign	Het
Faim2	T	C	15: 99,398,127 (GRCm39)	S274G	possibly damaging	Het
Fhip2a	G	T	19: 57,370,324 (GRCm39)	V523L	probably benign	Het
Fndc1	T	C	17: 8,023,761 (GRCm39)	R65G	probably damaging	Het
Fnip2	A	T	3: 79,419,632 (GRCm39)		probably benign	Het
Grm3	T	C	5: 9,639,793 (GRCm39)	Y84C	possibly damaging	Het
Herc2	T	C	7: 55,787,607 (GRCm39)	F1755L	probably damaging	Het
Hivep1	C	T	13: 42,313,625 (GRCm39)	T1955I	possibly damaging	Het
Ift20	T	C	11: 78,431,797 (GRCm39)	I97T	probably damaging	Het
Il36rn	T	C	2: 24,171,376 (GRCm39)	C155R	probably damaging	Het
Lca5l	T	A	16: 95,963,849 (GRCm39)	K358N	probably damaging	Het
Lca5l	T	C	16: 95,977,218 (GRCm39)	N196S	possibly damaging	Het
Maf1	G	A	15: 76,237,563 (GRCm39)	D175N	probably damaging	Het
Mical3	T	C	6: 120,928,283 (GRCm39)	K996E	probably damaging	Het
Midn	A	G	10: 79,990,983 (GRCm39)	N331S	probably benign	Het
Mki67	T	A	7: 135,300,238 (GRCm39)	K1599*	probably null	Het
Mlx	A	G	11: 100,979,805 (GRCm39)	Q162R	possibly damaging	Het
Nalf1	A	G	8: 9,820,607 (GRCm39)	S138P	probably benign	Het
Ngp	T	C	9: 110,249,929 (GRCm39)	C76R	probably damaging	Het
Nin	C	T	12: 70,072,251 (GRCm39)	G1210D	probably benign	Het
Nlgn1	A	G	3: 25,488,034 (GRCm39)	I738T	probably benign	Het
Nop53	A	C	7: 15,672,153 (GRCm39)	F465C	probably damaging	Het
Npas3	A	G	12: 54,114,680 (GRCm39)	D503G	possibly damaging	Het
Npbwr1	T	A	1: 5,986,570 (GRCm39)	S315C	probably damaging	Het
Nup42	G	T	5: 24,386,989 (GRCm39)	G260*	probably null	Het
Ogdh	G	C	11: 6,284,626 (GRCm39)	R200P	possibly damaging	Het
Or4b13	T	A	2: 90,083,036 (GRCm39)	I99L	probably benign	Het
Or52n20	A	G	7: 104,320,808 (GRCm39)	T300A	possibly damaging	Het
Or5m13b	T	G	2: 85,753,939 (GRCm39)		probably null	Het
Or6ae1	C	T	7: 139,742,729 (GRCm39)	V45I	probably damaging	Het
Or7g16	G	A	9: 18,726,801 (GRCm39)	S263L	probably benign	Het
Or7g33	A	T	9: 19,448,688 (GRCm39)	C179*	probably null	Het
Ovgp1	T	A	3: 105,894,309 (GRCm39)		probably benign	Het
Papln	T	A	12: 83,819,992 (GRCm39)	C150S	probably damaging	Het
Pde1c	A	T	6: 56,135,996 (GRCm39)	L316Q	probably damaging	Het
Pdlim2	C	T	14: 70,402,228 (GRCm39)	R296H	probably damaging	Het
Piezo2	G	T	18: 63,277,997 (GRCm39)	D302E	probably damaging	Het
Pirb	A	T	7: 3,720,637 (GRCm39)	L287Q	probably benign	Het
Plin1	A	G	7: 79,375,378 (GRCm39)		probably benign	Het
Plxnc1	A	G	10: 94,688,484 (GRCm39)	I698T	probably damaging	Het
Ppp1r12c	G	T	7: 4,485,974 (GRCm39)	C572*	probably null	Het
Ptgis	T	C	2: 167,056,769 (GRCm39)	M273V	possibly damaging	Het
Samd14	C	A	11: 94,914,110 (GRCm39)	T283K	probably damaging	Het
Scnn1g	A	T	7: 121,337,411 (GRCm39)	K91*	probably null	Het
Slc24a4	A	G	12: 102,180,166 (GRCm39)	Q95R	probably damaging	Het
Slfn9	T	G	11: 82,879,027 (GRCm39)	D34A	probably benign	Het
Smarca4	A	T	9: 21,588,776 (GRCm39)	I1193F	probably damaging	Het
Spata31e5	A	G	1: 28,816,260 (GRCm39)	W591R	probably damaging	Het
Sphkap	T	C	1: 83,255,632 (GRCm39)	M706V	probably benign	Het
Stard9	C	A	2: 120,504,117 (GRCm39)	S221R	probably damaging	Het
Stxbp1	T	C	2: 32,688,201 (GRCm39)	D488G	probably damaging	Het
Sugp2	C	T	8: 70,695,306 (GRCm39)		probably null	Het
Tekt5	T	C	16: 10,213,070 (GRCm39)	I72V	probably benign	Het
Themis	T	A	10: 28,658,720 (GRCm39)	N582K	probably benign	Het
Tmed11	C	A	5: 108,934,000 (GRCm39)	M65I	possibly damaging	Het
Top3a	G	T	11: 60,633,315 (GRCm39)	P927Q	probably damaging	Het
Trpa1	A	T	1: 14,976,207 (GRCm39)	N165K	possibly damaging	Het
Tsfm	A	G	10: 126,866,663 (GRCm39)	S2P	probably damaging	Het
Wdr47	C	A	3: 108,534,758 (GRCm39)	S559*	probably null	Het
Wnt2b	T	C	3: 104,860,331 (GRCm39)	Y192C	probably damaging	Het
Zfp280b	A	G	10: 75,874,370 (GRCm39)	D83G	probably benign	Het
Zfp345	T	C	2: 150,314,038 (GRCm39)	T500A	possibly damaging	Het
Zfp78	T	A	7: 6,382,074 (GRCm39)	C343S	probably 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
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
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

Predicted Primers

PCR Primer
(F):5'- CTCTCTGACAGCCAGCTACAAG -3'
(R):5'- CTCCAGATGGAAAGAAGACTGTC -3'

Sequencing Primer
(F):5'- GAAACTTTGACTACTCGAGACCG -3'
(R):5'- AAGAAGACTGTCCTGCGCTG -3'

Posted On

2014-08-25