Mutagenetix > Incidental Mutations

Incidental Mutation 'R7369:Cep135'

571990

Institutional Source

Beutler Lab

Gene Symbol

Cep135

Ensembl Gene

ENSMUSG00000036403

Gene Name

centrosomal protein 135

Synonyms

LOC381644, Cep4

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7369 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

76588698-76646466 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 76593253 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamine at position 59 (K59Q)

Ref Sequence

ENSEMBL: ENSMUSP00000038674 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000049060
AA Change: K59Q

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000038674
Gene: ENSMUSG00000036403
AA Change: K59Q

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

possibly damaging
Transcript: ENSMUST00000121979
AA Change: K59Q

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000112602
Gene: ENSMUSG00000036403
AA Change: K59Q

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: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (77/77)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4922502D21Rik	T	A	6: 129,331,533	Q11L	possibly damaging	Het
A930017K11Rik	G	A	17: 25,947,960	S201L	probably damaging	Het
Ahr	A	T	12: 35,504,660	W487R	possibly damaging	Het
Apaf1	A	G	10: 91,001,036	S1060P	probably damaging	Het
Atf7	G	T	15: 102,553,809	P126H	probably damaging	Het
B3gnt5	C	A	16: 19,769,660	Q210K	probably benign	Het
Begain	T	C	12: 109,033,927	Y306C	possibly damaging	Het
Car5a	T	C	8: 121,923,834	K157R	probably benign	Het
Car5b	A	C	X: 164,014,840	S35R	probably benign	Het
Cdh6	A	G	15: 13,042,638	V478A	probably damaging	Het
Cdyl	A	G	13: 35,816,009	E91G	probably damaging	Het
Cnot3	T	A	7: 3,653,331	D205E	possibly damaging	Het
Dgkd	G	A	1: 87,921,622	G379R	probably damaging	Het
Dppa1	T	A	11: 46,616,117		probably null	Het
Dsp	G	T	13: 38,197,525	V2749F	possibly damaging	Het
E2f4	A	G	8: 105,300,334	K177E	probably benign	Het
Efcab5	G	A	11: 77,117,835	P819L	possibly damaging	Het
Ercc5	T	A	1: 44,180,860	S1097R	probably benign	Het
Erp44	T	C	4: 48,218,183	N162S	probably benign	Het
Evl	A	G	12: 108,686,565	Y423C	unknown	Het
Fam78a	T	A	2: 32,069,687	N137I	probably damaging	Het
Fcrla	T	G	1: 170,922,317	D57A	probably benign	Het
Fcrls	T	C	3: 87,256,701	N374D	possibly damaging	Het
Gm7145	A	T	1: 117,986,108	H240L	probably benign	Het
Kdm5a	T	A	6: 120,432,004	N1549K	possibly damaging	Het
Kirrel	C	T	3: 87,141,084	R9H	probably benign	Het
Klf7	T	C	1: 64,121,141		probably null	Het
Lce1d	G	A	3: 92,686,083	Q8*	probably null	Het
Lcn4	T	C	2: 26,667,894	H180R	probably benign	Het
Lmntd1	T	A	6: 145,413,575	Y283F	probably damaging	Het
Lrp1b	C	T	2: 41,282,039	R1646K		Het
Map3k21	C	A	8: 125,911,116	A147E	possibly damaging	Het
Mapk8ip2	T	C	15: 89,454,251	S11P	probably benign	Het
Mdn1	T	A	4: 32,773,375	F5518L	probably damaging	Het
Mfsd7a	A	G	5: 108,445,528	V148A	probably benign	Het
Msh3	T	A	13: 92,299,262	T510S	probably benign	Het
Myh1	A	T	11: 67,220,698	Q1654H	probably damaging	Het
Ncbp3	T	C	11: 73,077,921	V506A	probably benign	Het
Nfkbiz	A	G	16: 55,821,846	S70P	probably damaging	Het
Nmi	T	C	2: 51,950,084	D215G	possibly damaging	Het
Nphp3	T	C	9: 104,018,250	S496P	probably damaging	Het
Nrp1	T	A	8: 128,431,915	C228S	probably damaging	Het
Olfr787	A	T	10: 129,463,521	M282L	probably benign	Het
Pcdh9	C	A	14: 93,886,367	R789L	possibly damaging	Het
Pigr	A	T	1: 130,841,766	T105S	probably benign	Het
Polr2a	A	C	11: 69,745,977	S383A	probably benign	Het
Psd3	T	A	8: 67,904,166	H634L	possibly damaging	Het
Ptgr2	T	G	12: 84,292,306		probably benign	Het
Ptk6	A	G	2: 181,198,461	Y251H	possibly damaging	Het
Rnf213	A	G	11: 119,430,468	T1251A		Het
Rtkn2	A	G	10: 68,041,429	K443E	probably damaging	Het
Rundc3a	T	A	11: 102,399,895	L268Q	probably damaging	Het
Serpinb5	A	G	1: 106,875,149	E138G	probably benign	Het
Shroom1	A	T	11: 53,465,248	D375V	probably benign	Het
Siglecf	A	G	7: 43,351,817	T70A	probably damaging	Het
Slc20a2	A	T	8: 22,561,400	E483V	probably benign	Het
Sort1	G	A	3: 108,351,680	G676D	probably damaging	Het
Spef2	T	C	15: 9,584,207	S1581G	probably benign	Het
Stx6	C	T	1: 155,197,384	R214*	probably null	Het
Stxbp5l	A	G	16: 37,134,341	I950T	probably benign	Het
Tdrd7	T	A	4: 46,013,239	C660S	possibly damaging	Het
Tgm4	T	A	9: 123,056,684		probably null	Het
Thap8	C	T	7: 30,289,952	L196F	unknown	Het
Tmem67	T	C	4: 12,053,535	Y671C	probably damaging	Het
Ttc6	A	T	12: 57,672,931		probably null	Het
Uba2	A	G	7: 34,150,814	S405P	possibly damaging	Het
Usp34	T	C	11: 23,432,361	I2043T		Het
Vmn1r12	T	A	6: 57,159,698	I260N	possibly damaging	Het
Vmn1r172	C	T	7: 23,660,605	T305I	unknown	Het
Vmn2r24	T	C	6: 123,815,679	V655A	probably damaging	Het
Wdr33	T	C	18: 31,886,666	S464P	probably benign	Het
Zcchc6	A	G	13: 59,782,053	I1458T	possibly damaging	Het
Zfp260	T	A	7: 30,105,325	C217S	probably damaging	Het
Zfp760	A	G	17: 21,723,233	E463G	probably benign	Het
Zhx1	A	G	15: 58,053,300	Y517H	probably damaging	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
R5194:Cep135	UTSW	5	76615777	missense	probably benign	0.05
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
R7741:Cep135	UTSW	5	76630970	missense	probably damaging	0.99
R7850:Cep135	UTSW	5	76591873	critical splice donor site	probably null
R7869:Cep135	UTSW	5	76640956	missense	probably benign	0.00
R7923:Cep135	UTSW	5	76609692	missense	possibly damaging	0.90
R8303:Cep135	UTSW	5	76611728	missense	probably damaging	1.00
R8312:Cep135	UTSW	5	76636899	missense	probably damaging	1.00
R8424:Cep135	UTSW	5	76594059	missense	possibly damaging	0.64
R8490:Cep135	UTSW	5	76638207	missense	probably benign	0.00
Z1177:Cep135	UTSW	5	76591826	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GACCCTTTGATACCCTGAAAGAAC -3'
(R):5'- AGGGACATTAGCCTTTTCCAC -3'

Sequencing Primer
(F):5'- TTTGATACCCTGAAAGAACCCTAAC -3'
(R):5'- CTGAGCATTCTCTGAGCT -3'

Posted On

2019-09-13