Mutagenetix > Incidental Mutations

Incidental Mutation 'R5194:Cep135'

399945

Institutional Source

Beutler Lab

Gene Symbol

Cep135

Ensembl Gene

ENSMUSG00000036403

Gene Name

centrosomal protein 135

Synonyms

LOC381644, Cep4

MMRRC Submission

042770-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5194 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

76588698-76646466 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 76615777 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 538 (V538A)

Ref Sequence

ENSEMBL: ENSMUSP00000112602 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000049060
AA Change: V538A

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000038674
Gene: ENSMUSG00000036403
AA Change: V538A

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: V538A

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000112602
Gene: ENSMUSG00000036403
AA Change: V538A

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

0.0625

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.5%

Validation Efficiency

98% (59/60)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700122O11Rik	T	C	17: 48,037,250	N82D	probably benign	Het
Acadm	C	T	3: 153,933,118	R206H	possibly damaging	Het
Acly	T	A	11: 100,523,546	Y18F	probably benign	Het
Acnat2	G	T	4: 49,380,452	Q291K	probably benign	Het
Agtpbp1	T	C	13: 59,500,639	I456V	probably benign	Het
Ankrd7	A	G	6: 18,868,077	N114S	possibly damaging	Het
Arfgef1	A	T	1: 10,204,907	L307I	probably benign	Het
Arhgef2	A	T	3: 88,635,649	I383F	probably damaging	Het
Cbs	C	T	17: 31,624,224		probably null	Het
D11Wsu47e	T	C	11: 113,688,828	S350P	possibly damaging	Het
Dennd5a	T	C	7: 109,933,729	E254G	probably damaging	Het
Drc7	T	C	8: 95,061,717	V236A	probably benign	Het
Dtna	C	T	18: 23,590,245	Q169*	probably null	Het
Egfem1	G	A	3: 29,357,196		probably null	Het
Eif2ak3	T	C	6: 70,858,478	S130P	possibly damaging	Het
Ewsr1	T	C	11: 5,082,355	N297S	unknown	Het
F13a1	T	G	13: 36,972,063	D192A	probably damaging	Het
Fam120a	A	G	13: 48,880,935	V1067A	probably benign	Het
Gm13124	A	G	4: 144,555,082	V380A	probably benign	Het
Gm17490	T	C	2: 11,626,251	Y5C	unknown	Het
Gm8587	C	T	12: 88,089,786		noncoding transcript	Het
H2-Ab1	C	T	17: 34,269,378		probably benign	Het
Hoxd12	T	C	2: 74,675,103	L6P	probably damaging	Het
Ifi204	C	T	1: 173,749,344	D564N	possibly damaging	Het
Irak2	T	C	6: 113,690,790	V444A	probably benign	Het
Lgr6	C	T	1: 134,994,010	A199T	probably damaging	Het
Lrba	A	C	3: 86,328,219	N877H	probably damaging	Het
Mylk3	T	C	8: 85,352,866	I388V	probably benign	Het
Myo9b	C	T	8: 71,349,089	A1286V	probably benign	Het
Myt1l	A	C	12: 29,811,648	D143A	unknown	Het
Ngfr	T	C	11: 95,580,982	N63S	probably benign	Het
Olfr1264	T	A	2: 90,021,526	Y180F	probably damaging	Het
Olfr1347	A	G	7: 6,488,520	L118P	probably damaging	Het
Olfr576	A	G	7: 102,965,864	I255V	probably benign	Het
Olfr698	A	T	7: 106,753,219	H56Q	probably benign	Het
Olfr814	C	T	10: 129,874,098	V220I	probably benign	Het
P2rx7	T	C	5: 122,673,795	S390P	probably benign	Het
Pcdhga4	A	C	18: 37,687,741	Q781P	probably benign	Het
Phip	G	A	9: 82,908,862	S677F	probably benign	Het
Ptpdc1	C	A	13: 48,586,789	V389F	possibly damaging	Het
Rab2a	T	A	4: 8,604,381	I161N	probably benign	Het
Rnf113a2	T	A	12: 84,417,337	M1K	probably null	Het
Schip1	T	C	3: 68,494,872	V122A	probably benign	Het
Sdr16c5	C	A	4: 4,006,663	A210S	probably benign	Het
Sh3bp1	A	G	15: 78,903,101	K83E	probably damaging	Het
Sipa1l2	T	C	8: 125,439,273	S1541G	possibly damaging	Het
Slc22a21	T	C	11: 53,979,847	Y4C	probably damaging	Het
Smco1	C	T	16: 32,273,774	H88Y	probably damaging	Het
Tll2	T	C	19: 41,095,897	D697G	probably damaging	Het
Trim34a	A	G	7: 104,260,993	N334S	possibly damaging	Het
Ubqln1	A	G	13: 58,199,033	I64T	probably benign	Het
Vstm2b	T	A	7: 40,902,488		probably null	Het
Wdr17	A	G	8: 54,687,604	F238L	probably damaging	Het
Wiz	T	C	17: 32,377,848		probably benign	Het
Zfp407	T	C	18: 84,561,309	S560G	probably benign	Het

Other mutations in Cep135

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00402:Cep135	APN	5	76601459	missense	probably damaging	0.98
IGL01154:Cep135	APN	5	76606796	splice site	probably benign
IGL01323:Cep135	APN	5	76591765	missense	probably benign	0.29
IGL01599:Cep135	APN	5	76593347	missense	possibly damaging	0.93
IGL01923:Cep135	APN	5	76640982	makesense	probably null
IGL02178:Cep135	APN	5	76595474	missense	probably damaging	1.00
IGL02276:Cep135	APN	5	76634246	missense	probably benign	0.00
IGL02344:Cep135	APN	5	76616821	missense	probably benign
IGL02394:Cep135	APN	5	76631471	missense	probably benign	0.02
IGL02740:Cep135	APN	5	76638268	critical splice donor site	probably null
IGL02832:Cep135	APN	5	76640949	missense	probably damaging	0.98
R0026:Cep135	UTSW	5	76606734	nonsense	probably null
R0060:Cep135	UTSW	5	76621350	missense	probably benign	0.20
R0325:Cep135	UTSW	5	76615743	missense	probably damaging	0.98
R0336:Cep135	UTSW	5	76601502	missense	probably benign	0.07
R0564:Cep135	UTSW	5	76615710	missense	probably damaging	1.00
R0564:Cep135	UTSW	5	76638949	missense	probably benign	0.03
R0600:Cep135	UTSW	5	76621305	missense	probably benign
R0636:Cep135	UTSW	5	76615657	missense	probably benign	0.07
R0704:Cep135	UTSW	5	76630949	missense	possibly damaging	0.62
R0835:Cep135	UTSW	5	76615706	missense	probably benign	0.40
R1015:Cep135	UTSW	5	76640997	critical splice donor site	probably null
R1167:Cep135	UTSW	5	76624637	missense	probably damaging	1.00
R1252:Cep135	UTSW	5	76594115	missense	possibly damaging	0.67
R1554:Cep135	UTSW	5	76634213	nonsense	probably null
R1770:Cep135	UTSW	5	76603195	missense	possibly damaging	0.95
R1804:Cep135	UTSW	5	76636932	missense	probably benign	0.22
R1968:Cep135	UTSW	5	76624747	missense	possibly damaging	0.96
R1987:Cep135	UTSW	5	76597428	missense	probably benign	0.00
R1996:Cep135	UTSW	5	76632266	missense	probably benign	0.08
R2004:Cep135	UTSW	5	76632329	critical splice donor site	probably null
R2178:Cep135	UTSW	5	76631450	missense	probably benign	0.00
R2305:Cep135	UTSW	5	76595389	splice site	probably benign
R2679:Cep135	UTSW	5	76624660	missense	probably benign
R3125:Cep135	UTSW	5	76621363	critical splice donor site	probably null
R3623:Cep135	UTSW	5	76624739	missense	probably benign	0.00
R4359:Cep135	UTSW	5	76611714	missense	possibly damaging	0.47
R4407:Cep135	UTSW	5	76624667	missense	probably benign
R4561:Cep135	UTSW	5	76638193	missense	possibly damaging	0.95
R4666:Cep135	UTSW	5	76616854	missense	probably benign
R4945:Cep135	UTSW	5	76597428	missense	probably benign	0.00
R5105:Cep135	UTSW	5	76594092	missense	probably benign	0.00
R5117:Cep135	UTSW	5	76631429	missense	probably benign	0.01
R5176:Cep135	UTSW	5	76637026	missense	probably benign	0.04
R5233:Cep135	UTSW	5	76591843	small deletion	probably benign
R5275:Cep135	UTSW	5	76593204	missense	possibly damaging	0.94
R5295:Cep135	UTSW	5	76593204	missense	possibly damaging	0.94
R5412:Cep135	UTSW	5	76616862	missense	probably benign	0.00
R5427:Cep135	UTSW	5	76638202	missense	probably benign	0.00
R5801:Cep135	UTSW	5	76630676	missense	probably damaging	1.00
R5975:Cep135	UTSW	5	76640890	missense	possibly damaging	0.94
R6087:Cep135	UTSW	5	76615791	critical splice donor site	probably null
R6176:Cep135	UTSW	5	76624643	missense	probably benign
R6210:Cep135	UTSW	5	76624723	missense	probably benign	0.15
R6456:Cep135	UTSW	5	76591724	start gained	probably benign
R6467:Cep135	UTSW	5	76621340	missense	possibly damaging	0.50
R6622:Cep135	UTSW	5	76640968	missense	probably benign	0.00
R6650:Cep135	UTSW	5	76633701	missense	possibly damaging	0.77
R6838:Cep135	UTSW	5	76632215	missense	probably damaging	1.00
R7028:Cep135	UTSW	5	76616848	missense	probably benign
R7049:Cep135	UTSW	5	76606738	missense	probably benign	0.01
R7095:Cep135	UTSW	5	76594058	missense	probably benign	0.10
R7207:Cep135	UTSW	5	76632243	missense	probably benign	0.00
R7330:Cep135	UTSW	5	76606745	nonsense	probably null
R7369:Cep135	UTSW	5	76593253	missense	possibly damaging	0.94
R7741:Cep135	UTSW	5	76630970	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AGTCACCAGCAGGATTGTGAC -3'
(R):5'- CTGCCACACTGACAAGCTAG -3'

Sequencing Primer
(F):5'- GATTGTGACAACCATGCAGTC -3'
(R):5'- TGCCACACTGACAAGCTAGAAAAG -3'

Posted On

2016-07-06