Mutagenetix > Incidental Mutation

Incidental Mutation 'R7850:Cep135'

606875

Institutional Source

Beutler Lab

Gene Symbol

Cep135

Ensembl Gene

ENSMUSG00000036403

Gene Name

centrosomal protein 135

Synonyms

Cep4, LOC381644

MMRRC Submission

045903-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7850 (G1)

Quality Score

225.009

Status

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 C at 76739720 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000038674 (fasta)

Gene Model

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (43/43)

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
A630089N07Rik	A	T	16: 97,869,328 (GRCm39)	D2E	probably damaging	Het
Abhd16b	G	A	2: 181,135,518 (GRCm39)	R140H	not run	Het
Acad11	G	T	9: 103,991,728 (GRCm39)	G588C	probably damaging	Het
Baz2b	C	A	2: 59,767,060 (GRCm39)	E107D	probably damaging	Het
Bcas1	A	G	2: 170,190,023 (GRCm39)	S625P	probably damaging	Het
Bdp1	T	A	13: 100,228,832 (GRCm39)	L265F	probably damaging	Het
Cacna1s	A	G	1: 135,998,786 (GRCm39)	Y227C	probably damaging	Het
Cacna2d2	G	A	9: 107,402,575 (GRCm39)	A848T	probably benign	Het
Cyp2b9	G	T	7: 25,886,111 (GRCm39)	E93*	probably null	Het
Dcp2	C	A	18: 44,533,415 (GRCm39)	S122*	probably null	Het
Ecel1	A	G	1: 87,079,745 (GRCm39)	L456P	probably damaging	Het
Entpd8	T	C	2: 24,975,028 (GRCm39)	M453T	probably damaging	Het
Gcc2	T	A	10: 58,114,703 (GRCm39)	V1084D	probably damaging	Het
Grem1	A	G	2: 113,580,178 (GRCm39)	C108R	probably damaging	Het
Gtf2ird1	T	C	5: 134,392,069 (GRCm39)	E880G	probably benign	Het
Hacd2	T	A	16: 34,922,477 (GRCm39)	M222K	probably damaging	Het
Htr1b	G	T	9: 81,514,652 (GRCm39)		probably null	Het
Htt	T	G	5: 35,009,631 (GRCm39)		probably null	Het
Ifnab	T	G	4: 88,609,133 (GRCm39)	D111A	probably benign	Het
Igsf10	A	T	3: 59,227,053 (GRCm39)	L2207I	probably benign	Het
Itln1	T	C	1: 171,358,166 (GRCm39)	Y194C	probably damaging	Het
Kmt5b	T	A	19: 3,865,043 (GRCm39)	D702E	probably damaging	Het
Knop1	T	C	7: 118,449,860 (GRCm39)	E382G	unknown	Het
Lrit3	A	C	3: 129,594,452 (GRCm39)	L42V	probably damaging	Het
Mug2	A	G	6: 122,052,170 (GRCm39)	E976G	probably damaging	Het
Or5an10	T	C	19: 12,275,996 (GRCm39)	M167V	probably benign	Het
Or8g28	A	T	9: 39,169,518 (GRCm39)	I150N	possibly damaging	Het
Or8s8	G	A	15: 98,354,949 (GRCm39)	G253R	probably damaging	Het
Papln	A	T	12: 83,827,436 (GRCm39)	E758V	probably damaging	Het
Pcnx3	A	C	19: 5,728,960 (GRCm39)	F967V	possibly damaging	Het
Pcnx4	G	T	12: 72,602,842 (GRCm39)	C368F	probably benign	Het
Pi15	T	A	1: 17,673,105 (GRCm39)	Y101*	probably null	Het
Ppp1r9a	G	A	6: 4,905,894 (GRCm39)	V150M	possibly damaging	Het
Prrt4	A	T	6: 29,176,900 (GRCm39)		probably null	Het
Ptgdr	A	G	14: 45,090,828 (GRCm39)	V310A	probably benign	Het
Ric1	G	A	19: 29,572,293 (GRCm39)	S696N	probably benign	Het
Setx	T	A	2: 29,037,430 (GRCm39)	V1305D	probably damaging	Het
Slk	G	A	19: 47,610,796 (GRCm39)	R822H	probably damaging	Het
Tas2r135	T	A	6: 42,383,072 (GRCm39)	F204I	probably benign	Het
Tcaf3	A	T	6: 42,571,140 (GRCm39)		probably null	Het
Tmtc2	A	G	10: 105,409,568 (GRCm39)	Y15H	probably benign	Het
Treml2	T	C	17: 48,615,168 (GRCm39)	S218P	probably benign	Het
Tubb2a	T	C	13: 34,258,554 (GRCm39)	E412G	probably damaging	Het
Usp48	T	G	4: 137,333,060 (GRCm39)		probably null	Het
Vmn2r25	A	T	6: 123,805,431 (GRCm39)	N475K	probably damaging	Het
Zscan4-ps1	G	A	7: 10,799,735 (GRCm39)	H385Y	probably benign	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
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'- ATTAGTACTATAGAGCACTGACGAC -3'
(R):5'- AAAGGCCCGATGGGTATAGC -3'

Sequencing Primer
(F):5'- CTATAGAGCACTGACGACATTAAAAG -3'
(R):5'- GTATAGCGACCCCTAGCATCCTG -3'

Posted On

2019-12-20