Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02544:Cep76'

297771

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cep76

Ensembl Gene

ENSMUSG00000073542

Gene Name

centrosomal protein 76

Synonyms

6230425F05Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02544

Quality Score

Status

Chromosome

Chromosomal Location

67750870-67774406 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 67768020 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000095149 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097542]

AlphaFold

Q0VEJ0

Predicted Effect

probably benign
Transcript: ENSMUST00000097542

SMART Domains

Protein: ENSMUSP00000095149
Gene: ENSMUSG00000073542

Domain	Start	End	E-Value	Type
Pfam:CEP76-C2	99	258	4.1e-64	PFAM
low complexity region	383	393	N/A	INTRINSIC
low complexity region	553	564	N/A	INTRINSIC
Blast:KIND	604	654	2e-27	BLAST

Coding Region Coverage

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 regulates centriole amplification by limiting centriole duplication to once per cell cycle. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	C	5: 77,049,961 (GRCm39)	S12A	probably benign	Het
Abcb5	A	T	12: 118,870,003 (GRCm39)		probably benign	Het
Acap3	G	A	4: 155,976,867 (GRCm39)	E6K	possibly damaging	Het
Ano3	A	T	2: 110,488,594 (GRCm39)	I946K	possibly damaging	Het
Arid1a	A	G	4: 133,409,059 (GRCm39)	V1816A	unknown	Het
Cacna1c	C	T	6: 118,728,440 (GRCm39)	G335R	probably damaging	Het
Ccnh	C	A	13: 85,350,460 (GRCm39)	Y118*	probably null	Het
Cyp2c65	T	C	19: 39,079,082 (GRCm39)	V387A	probably damaging	Het
Dapk1	T	G	13: 60,899,031 (GRCm39)	S834A	probably benign	Het
Ddx39a	T	C	8: 84,449,402 (GRCm39)	S367P	probably benign	Het
Dicer1	A	G	12: 104,681,091 (GRCm39)	I474T	probably damaging	Het
Dnah10	G	A	5: 124,876,069 (GRCm39)	R2579H	probably benign	Het
Dnajc16	T	C	4: 141,491,958 (GRCm39)	N622D	probably damaging	Het
Eif3c	G	T	7: 126,146,784 (GRCm39)	S799*	probably null	Het
Fbxo9	A	G	9: 77,994,541 (GRCm39)	Y259H	probably damaging	Het
Fpr-rs4	A	T	17: 18,242,473 (GRCm39)	H160L	probably benign	Het
Galc	A	T	12: 98,197,701 (GRCm39)	V336D	probably benign	Het
Matcap1	C	T	8: 106,010,092 (GRCm39)	V286M	probably benign	Het
Mfrp	T	C	9: 44,014,091 (GRCm39)	L153P	probably damaging	Het
Mtx1	C	A	3: 89,117,703 (GRCm39)	W30L	probably damaging	Het
Mysm1	A	T	4: 94,840,543 (GRCm39)	D624E	probably damaging	Het
Naa16	A	G	14: 79,573,260 (GRCm39)	F837L	probably damaging	Het
Or10ag56	C	T	2: 87,139,471 (GRCm39)	R113C	possibly damaging	Het
Or1j17	A	G	2: 36,578,848 (GRCm39)	Y278C	probably damaging	Het
Or2ag1	T	C	7: 106,313,742 (GRCm39)	I49V	probably benign	Het
Or5h25	A	T	16: 58,930,507 (GRCm39)	H155Q	probably damaging	Het
Pde4d	G	T	13: 109,877,057 (GRCm39)	D137Y	probably damaging	Het
Pik3r1	G	T	13: 101,823,784 (GRCm39)	R534S	probably damaging	Het
Pira12	T	A	7: 3,900,185 (GRCm39)	Y139F	probably damaging	Het
Plekha5	A	C	6: 140,535,454 (GRCm39)	E239A	possibly damaging	Het
Psap	G	T	10: 60,136,405 (GRCm39)		probably benign	Het
Rap2b	T	C	3: 61,272,560 (GRCm39)	F28S	probably damaging	Het
Rfc5	A	T	5: 117,524,931 (GRCm39)		probably benign	Het
Ryr1	C	T	7: 28,815,024 (GRCm39)	D175N	probably benign	Het
Sbno1	T	G	5: 124,542,046 (GRCm39)	I370L	probably damaging	Het
Slc17a6	T	A	7: 51,315,903 (GRCm39)	C390*	probably null	Het
Srsf7	A	T	17: 80,511,620 (GRCm39)		probably benign	Het
Tbc1d10c	C	T	19: 4,237,959 (GRCm39)	D272N	probably benign	Het
Tll2	A	G	19: 41,124,404 (GRCm39)	F204L	probably damaging	Het
Tmc1	T	A	19: 20,884,327 (GRCm39)	T38S	probably benign	Het
Tmem184b	A	T	15: 79,250,007 (GRCm39)	I256K	probably damaging	Het
Tmem214	G	A	5: 31,030,090 (GRCm39)	A296T	probably benign	Het
Trip11	G	A	12: 101,859,780 (GRCm39)	R365W	probably damaging	Het
Ubr4	C	T	4: 139,142,429 (GRCm39)	P1339S	probably damaging	Het
Vmn2r83	T	A	10: 79,317,293 (GRCm39)		probably benign	Het

Other mutations in Cep76

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01333:Cep76	APN	18	67,773,187 (GRCm39)	missense	probably benign	0.01
IGL01344:Cep76	APN	18	67,756,467 (GRCm39)	missense	possibly damaging	0.95
IGL02426:Cep76	APN	18	67,767,987 (GRCm39)	missense	probably benign
IGL02711:Cep76	APN	18	67,771,406 (GRCm39)	missense	probably benign
IGL03283:Cep76	APN	18	67,773,139 (GRCm39)	missense	possibly damaging	0.76
R0117:Cep76	UTSW	18	67,759,744 (GRCm39)	missense	possibly damaging	0.91
R0450:Cep76	UTSW	18	67,767,850 (GRCm39)	missense	probably benign	0.30
R0469:Cep76	UTSW	18	67,767,850 (GRCm39)	missense	probably benign	0.30
R0587:Cep76	UTSW	18	67,756,245 (GRCm39)	nonsense	probably null
R0658:Cep76	UTSW	18	67,756,374 (GRCm39)	missense	probably damaging	1.00
R0667:Cep76	UTSW	18	67,767,848 (GRCm39)	missense	possibly damaging	0.85
R1508:Cep76	UTSW	18	67,756,358 (GRCm39)	missense	probably damaging	1.00
R1511:Cep76	UTSW	18	67,758,028 (GRCm39)	missense	probably benign
R4280:Cep76	UTSW	18	67,773,229 (GRCm39)	missense	probably benign	0.39
R4355:Cep76	UTSW	18	67,759,710 (GRCm39)	missense	probably benign	0.02
R4702:Cep76	UTSW	18	67,767,968 (GRCm39)	missense	possibly damaging	0.48
R4847:Cep76	UTSW	18	67,752,639 (GRCm39)	missense	probably benign	0.04
R5650:Cep76	UTSW	18	67,758,136 (GRCm39)	missense	probably damaging	1.00
R5897:Cep76	UTSW	18	67,771,398 (GRCm39)	missense	probably benign	0.00
R6648:Cep76	UTSW	18	67,752,804 (GRCm39)	missense	probably benign	0.27
R7193:Cep76	UTSW	18	67,774,204 (GRCm39)	missense	possibly damaging	0.70
R7822:Cep76	UTSW	18	67,774,219 (GRCm39)	nonsense	probably null
R7846:Cep76	UTSW	18	67,762,975 (GRCm39)	missense	probably damaging	1.00
R8870:Cep76	UTSW	18	67,773,190 (GRCm39)	missense	probably benign	0.02
R8883:Cep76	UTSW	18	67,766,540 (GRCm39)	missense	probably benign	0.02
R9025:Cep76	UTSW	18	67,767,885 (GRCm39)	missense	probably damaging	1.00
R9221:Cep76	UTSW	18	67,767,977 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16