Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02711:Cep76'

304582

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 #

IGL02711

Quality Score

Status

Chromosome

Chromosomal Location

67750870-67774406 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 67771406 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 75 (S75R)

Ref Sequence

ENSEMBL: ENSMUSP00000095149 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025418] [ENSMUST00000097542]

AlphaFold

Q0VEJ0

Predicted Effect

probably benign
Transcript: ENSMUST00000025418

SMART Domains

Protein: ENSMUSP00000025418
Gene: ENSMUSG00000024537

Domain	Start	End	E-Value	Type
Pfam:PAC2	17	230	3.8e-38	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000097542
AA Change: S75R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000095149
Gene: ENSMUSG00000073542
AA Change: S75R

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	A	T	5: 8,773,245 (GRCm39)		probably null	Het
Adamts10	T	A	17: 33,757,246 (GRCm39)	M400K	probably damaging	Het
Adamts17	G	A	7: 66,701,788 (GRCm39)		probably benign	Het
Adh5	A	G	3: 138,160,434 (GRCm39)	K323E	probably damaging	Het
Angptl2	T	C	2: 33,118,255 (GRCm39)	W10R	probably benign	Het
Arhgap15	T	C	2: 44,006,674 (GRCm39)	F264L	possibly damaging	Het
Atp6v1g3	T	A	1: 138,211,419 (GRCm39)	L33Q	probably damaging	Het
Baz2b	A	T	2: 59,747,849 (GRCm39)		probably benign	Het
Capn11	A	G	17: 45,943,341 (GRCm39)	F611S	probably damaging	Het
Cep152	T	A	2: 125,405,862 (GRCm39)	T1557S	possibly damaging	Het
Cps1	A	G	1: 67,251,676 (GRCm39)		probably benign	Het
Dbf4	G	T	5: 8,458,235 (GRCm39)	A199E	probably benign	Het
Gldc	C	T	19: 30,122,546 (GRCm39)		probably null	Het
Hspa14	G	A	2: 3,503,557 (GRCm39)	A117V	probably benign	Het
Igkv4-80	G	A	6: 68,993,801 (GRCm39)	P30L	probably damaging	Het
Itga2b	A	T	11: 102,356,551 (GRCm39)	W292R	possibly damaging	Het
Kansl1	A	T	11: 104,226,401 (GRCm39)	S982T	probably damaging	Het
Klhdc7b	A	T	15: 89,272,246 (GRCm39)	K1043*	probably null	Het
Kmt2a	A	T	9: 44,735,820 (GRCm39)		probably benign	Het
Krt86	T	C	15: 101,371,543 (GRCm39)	Y38H	probably damaging	Het
Lingo4	T	C	3: 94,310,700 (GRCm39)	I546T	probably benign	Het
Lrrk1	A	G	7: 65,980,515 (GRCm39)	S222P	probably damaging	Het
Lrrk2	T	C	15: 91,570,025 (GRCm39)	V178A	possibly damaging	Het
Maml2	T	C	9: 13,531,359 (GRCm39)	V191A	probably benign	Het
Msh3	T	C	13: 92,487,819 (GRCm39)	T133A	probably damaging	Het
Nck1	T	C	9: 100,390,673 (GRCm39)	D12G	probably damaging	Het
Nox4	T	C	7: 87,046,076 (GRCm39)	Y572H	probably damaging	Het
Nqo1	A	T	8: 108,119,563 (GRCm39)	L30Q	probably damaging	Het
Or5ak24	A	T	2: 85,261,083 (GRCm39)	V30E	probably damaging	Het
Oxr1	A	G	15: 41,517,067 (GRCm39)		probably benign	Het
Pcare	T	C	17: 72,056,377 (GRCm39)	D1100G	probably benign	Het
Pcdhb10	A	C	18: 37,545,779 (GRCm39)	D285A	possibly damaging	Het
Pclo	A	G	5: 14,572,322 (GRCm39)	N569S	unknown	Het
Ppfibp1	T	A	6: 146,927,736 (GRCm39)	Y794*	probably null	Het
Ripor3	T	G	2: 167,848,200 (GRCm39)		probably benign	Het
Rpe65	C	A	3: 159,328,514 (GRCm39)	H441N	possibly damaging	Het
St14	A	G	9: 31,001,196 (GRCm39)	V845A	probably benign	Het
Tmem116	T	A	5: 121,625,804 (GRCm39)		probably benign	Het
Tnfrsf11b	A	T	15: 54,119,532 (GRCm39)	D147E	probably benign	Het
Ttn	C	A	2: 76,560,466 (GRCm39)	G27566*	probably null	Het
Zscan18	G	T	7: 12,509,044 (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
IGL02544:Cep76	APN	18	67,768,020 (GRCm39)	splice site	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