Mutagenetix > Incidental Mutation

Incidental Mutation 'R4561:Cep135'

343086

Institutional Source

Beutler Lab

Gene Symbol

Cep135

Ensembl Gene

ENSMUSG00000036403

Gene Name

centrosomal protein 135

Synonyms

Cep4, LOC381644

MMRRC Submission

041786-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4561 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

76736545-76794313 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 76786040 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 1048 (H1048Y)

Ref Sequence

ENSEMBL: ENSMUSP00000112602 (fasta)

Gene Model

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

AlphaFold

Q6P5D4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000049060
AA Change: H1048Y

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000038674
Gene: ENSMUSG00000036403
AA Change: H1048Y

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: H1048Y

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000112602
Gene: ENSMUSG00000036403
AA Change: H1048Y

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: 95.1%

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ank3	T	C	10: 69,837,848 (GRCm39)	S1601P	probably damaging	Het
Arnt	A	G	3: 95,359,924 (GRCm39)	N56D	probably damaging	Het
Atad5	A	G	11: 79,986,715 (GRCm39)	T601A	probably benign	Het
Calr4	A	G	4: 109,103,379 (GRCm39)	N163S	probably damaging	Het
Cenpc1	C	A	5: 86,195,491 (GRCm39)	A93S	probably damaging	Het
Ctnna2	A	G	6: 77,613,696 (GRCm39)		probably null	Het
Ddx60	T	C	8: 62,395,495 (GRCm39)	L144P	probably damaging	Het
Dera	A	T	6: 137,757,736 (GRCm39)	T96S	possibly damaging	Het
Dock9	T	A	14: 121,796,419 (GRCm39)	M1853L	probably benign	Het
Erbb4	G	A	1: 68,383,080 (GRCm39)	R306*	probably null	Het
Glyat	G	T	19: 12,628,644 (GRCm39)	L146F	possibly damaging	Het
Grk4	C	A	5: 34,852,157 (GRCm39)	Q134K	probably benign	Het
Hkdc1	T	C	10: 62,245,618 (GRCm39)	Q181R	probably benign	Het
Huwe1	A	T	X: 150,646,955 (GRCm39)	I682F	probably damaging	Het
Ipo4	C	T	14: 55,867,546 (GRCm39)		probably benign	Het
Ivl	CCTGCTGCTGCT	CCTGCTGCTGCTGCT	3: 92,479,262 (GRCm39)		probably benign	Het
Kcnd2	A	G	6: 21,216,395 (GRCm39)	Q33R	probably benign	Het
Kdm7a	C	T	6: 39,129,757 (GRCm39)	R473Q	probably damaging	Het
Klhl30	A	T	1: 91,288,753 (GRCm39)	H504L	probably damaging	Het
Map4	A	G	9: 109,881,439 (GRCm39)	Y101C	possibly damaging	Het
Mfn2	C	A	4: 147,961,492 (GRCm39)	R707L	probably damaging	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Myof	T	C	19: 37,911,438 (GRCm39)	N1511D	probably benign	Het
Neb	A	T	2: 52,176,167 (GRCm39)	Y1431N	probably damaging	Het
Nlrc5	A	G	8: 95,203,774 (GRCm39)	T625A	probably damaging	Het
Or5g27	G	T	2: 85,409,964 (GRCm39)	C127F	probably damaging	Het
Pax2	A	G	19: 44,824,402 (GRCm39)	Y374C	unknown	Het
Pde8a	T	A	7: 80,958,568 (GRCm39)	Y315*	probably null	Het
Pkhd1	A	T	1: 20,604,943 (GRCm39)	L1124Q	possibly damaging	Het
Ppp1r3a	A	G	6: 14,754,681 (GRCm39)	F189L	probably damaging	Het
Prex2	G	A	1: 11,254,769 (GRCm39)		probably null	Het
Robo4	CGG	CG	9: 37,322,786 (GRCm39)		probably null	Het
Slc22a22	T	A	15: 57,126,781 (GRCm39)	Q77L	probably damaging	Het
Slc24a2	A	T	4: 87,145,634 (GRCm39)	V140D	probably damaging	Het
Slc35g2	C	A	9: 100,435,287 (GRCm39)	R128L	probably damaging	Het
Slco1b2	A	G	6: 141,616,893 (GRCm39)	T409A	probably benign	Het
Spag7	T	C	11: 70,555,816 (GRCm39)	I80M	probably damaging	Het
Srgap3	A	G	6: 112,758,015 (GRCm39)	M164T	probably damaging	Het
Sspo	A	T	6: 48,452,468 (GRCm39)		probably null	Het
Tcte2	T	C	17: 13,942,864 (GRCm39)		probably benign	Het
Tmem117	A	T	15: 94,992,677 (GRCm39)	M446L	probably benign	Het
Tmtc4	T	C	14: 123,200,710 (GRCm39)	T194A	probably benign	Het
Ttc21b	T	C	2: 66,016,562 (GRCm39)	Y1269C	probably damaging	Het
Zfp236	A	T	18: 82,638,531 (GRCm39)	I1363N	probably damaging	Het
Zfp760	T	A	17: 21,942,648 (GRCm39)	S608T	probably benign	Het
Zfp947	G	T	17: 22,365,124 (GRCm39)	Y183*	probably null	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
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'- CAGACTAAGCCTAAACTTTTGCTG -3'
(R):5'- ACGTCTACGGCTTCAAACCC -3'

Sequencing Primer
(F):5'- AAGCCTAAACTTTTGCTGAATTAATC -3'
(R):5'- TGTCCAGACGCAGCAGTTAG -3'

Posted On

2015-09-24