Mutagenetix > Incidental Mutation

Incidental Mutation 'R4847:Cep76'

373348

Institutional Source

Beutler Lab

Gene Symbol

Cep76

Ensembl Gene

ENSMUSG00000073542

Gene Name

centrosomal protein 76

Synonyms

6230425F05Rik

MMRRC Submission

042460-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4847 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

67750870-67774406 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 67752639 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Isoleucine at position 603 (R603I)

Ref Sequence

ENSEMBL: ENSMUSP00000095149 (fasta)

Gene Model

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

AlphaFold

Q0VEJ0

Predicted Effect

probably benign
Transcript: ENSMUST00000097542
AA Change: R603I

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000095149
Gene: ENSMUSG00000073542
AA Change: R603I

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

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.7%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730455P16Rik	C	T	11: 80,264,940 (GRCm39)	V171M	probably damaging	Het
Abhd3	A	G	18: 10,647,786 (GRCm39)	S328P	possibly damaging	Het
Acot11	C	T	4: 106,617,327 (GRCm39)	G240R	probably damaging	Het
Aldh1b1	G	T	4: 45,802,625 (GRCm39)	K54N	possibly damaging	Het
Amacr	C	T	15: 10,994,958 (GRCm39)	Q257*	probably null	Het
Ankrd12	A	T	17: 66,331,087 (GRCm39)	D309E	probably benign	Het
Anks6	T	C	4: 47,033,266 (GRCm39)	T600A	probably benign	Het
Ap3b1	A	G	13: 94,608,287 (GRCm39)	E586G	probably benign	Het
Atad2b	A	G	12: 4,994,901 (GRCm39)		probably null	Het
Cant1	G	A	11: 118,300,936 (GRCm39)	Q240*	probably null	Het
Cep152	T	C	2: 125,460,394 (GRCm39)	Y186C	possibly damaging	Het
Chad	T	C	11: 94,459,153 (GRCm39)	S352P	probably benign	Het
Ckap2	T	C	8: 22,665,084 (GRCm39)	E460G	probably damaging	Het
Col22a1	T	C	15: 71,671,348 (GRCm39)	Y1004C	unknown	Het
Col9a3	G	A	2: 180,257,318 (GRCm39)	G480S	probably damaging	Het
Cpsf2	A	G	12: 101,963,561 (GRCm39)	D430G	probably benign	Het
Cramp1	T	C	17: 25,204,063 (GRCm39)	D305G	probably damaging	Het
Ctnnd1	C	A	2: 84,452,396 (GRCm39)	E76*	probably null	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Cyp2c39	A	T	19: 39,549,340 (GRCm39)	N286I	probably damaging	Het
Ddx11	A	G	17: 66,437,796 (GRCm39)	E174G	probably damaging	Het
Ddx19a	T	C	8: 111,703,677 (GRCm39)	E369G	probably damaging	Het
Dnai7	T	A	6: 145,120,911 (GRCm39)	H636L	probably damaging	Het
Epha1	T	A	6: 42,338,848 (GRCm39)	D687V	possibly damaging	Het
Fgr	T	C	4: 132,721,959 (GRCm39)	W132R	probably damaging	Het
Fras1	A	T	5: 96,692,851 (GRCm39)	D170V	possibly damaging	Het
Gas2l1	A	G	11: 5,014,173 (GRCm39)	S96P	probably damaging	Het
Gfy	G	A	7: 44,827,020 (GRCm39)	P359S	probably damaging	Het
Hexim2	A	G	11: 103,029,767 (GRCm39)	N273S	probably benign	Het
Hr	A	T	14: 70,793,916 (GRCm39)	T59S	probably benign	Het
Ift70a2	A	T	2: 75,808,058 (GRCm39)	N151K	probably benign	Het
Impdh2	A	G	9: 108,441,870 (GRCm39)	Y166C	probably damaging	Het
Impdh2	T	A	9: 108,442,714 (GRCm39)	F514Y	probably benign	Het
Iqgap2	A	G	13: 95,810,251 (GRCm39)	F731S	probably benign	Het
Klhl17	A	T	4: 156,316,054 (GRCm39)	H433Q	probably damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Kntc1	A	C	5: 123,940,337 (GRCm39)	N1645T	probably benign	Het
Mcm8	A	G	2: 132,661,923 (GRCm39)	I114V	probably benign	Het
Mink1	T	A	11: 70,492,854 (GRCm39)	L160Q	probably damaging	Het
Mipol1	A	T	12: 57,350,282 (GRCm39)	S27C	probably damaging	Het
Mthfr	T	C	4: 148,132,596 (GRCm39)	V217A	probably damaging	Het
Or5b105	A	G	19: 13,079,898 (GRCm39)	Y257H	probably damaging	Het
Or5p53	T	A	7: 107,533,034 (GRCm39)	C102*	probably null	Het
Pde1c	T	C	6: 56,100,019 (GRCm39)	K614E	possibly damaging	Het
Pds5b	A	T	5: 150,671,577 (GRCm39)	E407V	probably damaging	Het
Pdzph1	A	G	17: 59,280,525 (GRCm39)	S586P	possibly damaging	Het
Prkcb	C	T	7: 122,167,372 (GRCm39)	R361W	probably benign	Het
Psen2	T	A	1: 180,073,197 (GRCm39)		probably null	Het
Ptk2	T	A	15: 73,103,805 (GRCm39)	M82L	probably benign	Het
Ptk2b	T	C	14: 66,411,331 (GRCm39)	D400G	probably damaging	Het
Samd8	G	A	14: 21,842,503 (GRCm39)	R275Q	possibly damaging	Het
Senp2	A	G	16: 21,857,386 (GRCm39)	T403A	possibly damaging	Het
Serpinb13	C	T	1: 106,910,574 (GRCm39)	S66L	probably damaging	Het
Skap2	T	A	6: 51,980,649 (GRCm39)	I52L	probably benign	Het
Slc5a7	T	C	17: 54,584,168 (GRCm39)	D374G	possibly damaging	Het
Slmap	A	T	14: 26,147,763 (GRCm39)	L699M	possibly damaging	Het
Sntg1	A	C	1: 8,665,706 (GRCm39)	C203G	possibly damaging	Het
Stard9	T	C	2: 120,533,594 (GRCm39)	S3284P	probably benign	Het
Tbx21	T	C	11: 97,005,857 (GRCm39)	Y36C	probably damaging	Het
Tecpr2	A	G	12: 110,906,311 (GRCm39)	Y971C	probably damaging	Het
Trpm5	T	A	7: 142,641,500 (GRCm39)	I137F	possibly damaging	Het
Unk	A	G	11: 115,945,232 (GRCm39)	K426E	probably damaging	Het
Zc3hc1	T	C	6: 30,375,981 (GRCm39)	D193G	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
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
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

Predicted Primers

PCR Primer
(F):5'- CCACGACAACAGATTATTTCTTCAC -3'
(R):5'- AATTGCTACAGGACCTTGGC -3'

Sequencing Primer
(F):5'- AAAAGTAGTTAAGGAGAAAGTCACTG -3'
(R):5'- TACAGGACCTTGGCCTCAC -3'

Posted On

2016-03-01