Mutagenetix > Incidental Mutation

Incidental Mutation 'R8490:Cep135'

657944

Institutional Source

Beutler Lab

Gene Symbol

Cep135

Ensembl Gene

ENSMUSG00000036403

Gene Name

centrosomal protein 135

Synonyms

Cep4, LOC381644

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8490 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

76736545-76794313 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 76786054 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 1052 (H1052Q)

Ref Sequence

ENSEMBL: ENSMUSP00000112602 (fasta)

Gene Model

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

AlphaFold

Q6P5D4

Predicted Effect

probably benign
Transcript: ENSMUST00000049060
AA Change: H1052Q

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000038674
Gene: ENSMUSG00000036403
AA Change: H1052Q

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: H1052Q

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000112602
Gene: ENSMUSG00000036403
AA Change: H1052Q

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

98% (52/53)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	G	1: 71,323,256 (GRCm39)	K1609Q	probably damaging	Het
Arl5a	A	G	2: 52,314,614 (GRCm39)	F12L	probably benign	Het
Armc9	C	T	1: 86,202,125 (GRCm39)	T761I	probably benign	Het
Bmp1	A	G	14: 70,727,573 (GRCm39)	F670S	possibly damaging	Het
Cd34	T	C	1: 194,621,281 (GRCm39)	V3A	probably benign	Het
Cdkn2a	A	T	4: 89,212,759 (GRCm39)	M1K	probably null	Het
Cfap100	T	C	6: 90,390,721 (GRCm39)		probably benign	Het
Cib4	A	T	5: 30,703,075 (GRCm39)	Y17N	probably damaging	Het
Col3a1	T	G	1: 45,385,116 (GRCm39)	S78A	probably benign	Het
Crebzf	A	G	7: 90,092,706 (GRCm39)	M162V	probably benign	Het
Dbx2	T	A	15: 95,552,454 (GRCm39)	M64L	possibly damaging	Het
Epb41l2	A	T	10: 25,380,128 (GRCm39)	T884S	probably damaging	Het
Erich3	T	A	3: 154,401,461 (GRCm39)	S37T		Het
Eya1	G	T	1: 14,254,899 (GRCm39)	Q383K	possibly damaging	Het
Gm15130	A	T	2: 110,983,230 (GRCm39)		probably null	Het
Ido1	A	T	8: 25,086,954 (GRCm39)	M1K	probably null	Het
Loxhd1	C	T	18: 77,529,162 (GRCm39)	T1069M	possibly damaging	Het
Lrrtm2	T	G	18: 35,346,451 (GRCm39)		probably null	Het
Map1a	C	T	2: 121,135,045 (GRCm39)	H1716Y	possibly damaging	Het
Mycbp2	T	A	14: 103,446,267 (GRCm39)	T1854S	probably benign	Het
Myh13	T	C	11: 67,255,351 (GRCm39)	S1574P	probably damaging	Het
Neu1	G	A	17: 35,150,982 (GRCm39)	A78T	probably benign	Het
Nfam1	T	C	15: 82,907,238 (GRCm39)		probably benign	Het
Or1e27-ps1	T	A	11: 73,555,675 (GRCm39)	L80Q	probably damaging	Het
Or4c10b	A	C	2: 89,711,511 (GRCm39)	T114P	probably damaging	Het
Or8k33	A	T	2: 86,384,027 (GRCm39)	M147K	probably benign	Het
Pdgfra	T	C	5: 75,331,329 (GRCm39)		probably null	Het
Ptgfrn	A	T	3: 100,963,686 (GRCm39)	M642K	probably damaging	Het
R3hdm1	T	A	1: 128,162,864 (GRCm39)	H980Q	probably benign	Het
Rfc2	C	A	5: 134,611,698 (GRCm39)	S19*	probably null	Het
Rhbdf1	C	A	11: 32,160,162 (GRCm39)	S738I	probably damaging	Het
Rif1	T	A	2: 52,001,011 (GRCm39)	N1488K	probably damaging	Het
Rnf31	G	A	14: 55,833,566 (GRCm39)	V525I	probably damaging	Het
Rps27a	T	C	11: 29,496,719 (GRCm39)	D58G	probably benign	Het
Serpinc1	T	G	1: 160,817,028 (GRCm39)	C41G	probably damaging	Het
Siglece	A	T	7: 43,309,486 (GRCm39)	V24D	probably benign	Het
Sparcl1	T	A	5: 104,233,574 (GRCm39)	R592W	probably null	Het
Stard13	A	G	5: 150,987,090 (GRCm39)	S104P	probably damaging	Het
Ston2	A	G	12: 91,614,905 (GRCm39)	V501A	possibly damaging	Het
Sv2b	C	A	7: 74,855,833 (GRCm39)		probably null	Het
Tiam1	T	C	16: 89,681,932 (GRCm39)	R349G	probably damaging	Het
Tmprss11g	A	G	5: 86,639,976 (GRCm39)		probably null	Het
Tnik	G	T	3: 28,650,321 (GRCm39)	R507L	probably damaging	Het
Trabd2b	G	T	4: 114,460,113 (GRCm39)	S417I	probably damaging	Het
Ube2q1	T	A	3: 89,681,308 (GRCm39)	V97E	probably benign	Het
Vim	A	T	2: 13,584,265 (GRCm39)	N306Y	probably damaging	Het
Vmn1r216	G	T	13: 23,283,979 (GRCm39)	A221S	possibly damaging	Het
Vmn2r113	G	A	17: 23,177,372 (GRCm39)	A719T	probably benign	Het
Vmn2r66	A	G	7: 84,654,794 (GRCm39)		probably null	Het
Vps45	T	C	3: 95,948,661 (GRCm39)	S365G	probably benign	Het
Zzz3	T	A	3: 152,134,290 (GRCm39)	C449*	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
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
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'- TCAGACTAAGCCTAAACTTTTGCTG -3'
(R):5'- ACGTCTACGGCTTCAAACC -3'

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

Posted On

2021-01-18