Mutagenetix > Incidental Mutation

Incidental Mutation 'R7822:Cep76'

601971

Institutional Source

Beutler Lab

Gene Symbol

Cep76

Ensembl Gene

ENSMUSG00000073542

Gene Name

centrosomal protein 76

Synonyms

6230425F05Rik

MMRRC Submission

045876-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7822 (G1)

Quality Score

128.008

Status

Not validated

Chromosome

Chromosomal Location

67750870-67774406 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 67774219 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Stop codon at position 9 (S9*)

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 null
Transcript: ENSMUST00000097542
AA Change: S9*

SMART Domains

Protein: ENSMUSP00000095149
Gene: ENSMUSG00000073542
AA Change: S9*

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap21	G	A	2: 20,885,524 (GRCm39)	S551L	possibly damaging	Het
Ash1l	T	C	3: 88,914,571 (GRCm39)	S1734P	probably benign	Het
Btnl2	T	A	17: 34,582,288 (GRCm39)	S285T	possibly damaging	Het
Cadm4	A	G	7: 24,202,970 (GRCm39)	D364G	possibly damaging	Het
Card6	T	A	15: 5,128,347 (GRCm39)	K1016N	possibly damaging	Het
Cdh2	G	T	18: 16,757,341 (GRCm39)	N692K	probably benign	Het
Cklf	T	C	8: 104,977,729 (GRCm39)		probably null	Het
Ctsa	T	C	2: 164,681,152 (GRCm39)	*475R	probably null	Het
Dapk1	A	C	13: 60,873,715 (GRCm39)	D406A	probably benign	Het
Ddx4	A	T	13: 112,748,647 (GRCm39)	V443D	probably damaging	Het
Dph5	C	T	3: 115,693,399 (GRCm39)	Q106*	probably null	Het
Drg2	C	T	11: 60,353,026 (GRCm39)	R220*	probably null	Het
Efcab8	A	T	2: 153,652,832 (GRCm39)	Q509L	unknown	Het
Efs	C	T	14: 55,154,907 (GRCm39)	S444N	probably benign	Het
Evl	T	C	12: 108,614,723 (GRCm39)	V58A	probably damaging	Het
Garin3	A	G	11: 46,295,730 (GRCm39)	N34S		Het
Gbe1	G	A	16: 70,230,500 (GRCm39)	R166H	probably damaging	Het
Gcc1	T	C	6: 28,418,785 (GRCm39)	E516G	probably damaging	Het
Ghr	T	C	15: 3,487,439 (GRCm39)	T15A	probably benign	Het
Gnb4	G	A	3: 32,650,480 (GRCm39)	T50M	probably damaging	Het
Grik3	T	C	4: 125,550,190 (GRCm39)		probably null	Het
Gstk1	T	C	6: 42,224,686 (GRCm39)	Y135H	probably benign	Het
Gucy2c	T	A	6: 136,685,404 (GRCm39)	I846F	probably damaging	Het
Itga7	A	G	10: 128,778,835 (GRCm39)	T321A	probably benign	Het
Jakmip1	A	T	5: 37,332,524 (GRCm39)	N1068I	probably damaging	Het
Krt36	A	G	11: 99,994,966 (GRCm39)	I202T	possibly damaging	Het
Krt9	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	11: 100,079,903 (GRCm39)		probably benign	Het
Mast2	A	G	4: 116,170,070 (GRCm39)	L741P	probably damaging	Het
Mctp2	T	C	7: 71,776,935 (GRCm39)	N720S	possibly damaging	Het
Mmp9	A	T	2: 164,790,956 (GRCm39)	K115*	probably null	Het
Mtf2	C	T	5: 108,228,743 (GRCm39)	R20*	probably null	Het
Mycbp2	T	G	14: 103,376,851 (GRCm39)	Q3810P	probably benign	Het
Myom2	A	T	8: 15,158,454 (GRCm39)	H802L	probably benign	Het
Naa25	A	G	5: 121,545,276 (GRCm39)	N27D	probably damaging	Het
Necab2	T	C	8: 120,181,103 (GRCm39)	F126L	probably damaging	Het
Nisch	C	G	14: 30,896,608 (GRCm39)		probably benign	Het
Nsd2	T	A	5: 34,000,938 (GRCm39)	S152T	probably damaging	Het
Ntsr1	T	C	2: 180,180,483 (GRCm39)	L263P	probably damaging	Het
Nup210	A	G	6: 90,995,759 (GRCm39)	V922A	possibly damaging	Het
Or12d17	T	A	17: 37,777,994 (GRCm39)	M299K	probably benign	Het
Or5b105	T	A	19: 13,080,417 (GRCm39)	I84F	probably benign	Het
Or5d45	A	C	2: 88,153,425 (GRCm39)	I208S	probably benign	Het
Pccb	C	A	9: 100,909,137 (GRCm39)	C144F	probably damaging	Het
Pi16	C	A	17: 29,538,208 (GRCm39)	P7Q	possibly damaging	Het
Pigt	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	2: 164,341,589 (GRCm39)		probably null	Het
Prdm1	A	G	10: 44,334,478 (GRCm39)	V16A	probably benign	Het
Prr5	A	C	15: 84,649,933 (GRCm39)	Y219S	probably damaging	Het
Psme4	A	G	11: 30,824,245 (GRCm39)	D1743G	probably benign	Het
Rad21l	G	T	2: 151,497,045 (GRCm39)	D356E	probably benign	Het
Rars1	A	G	11: 35,710,793 (GRCm39)	I322T	probably damaging	Het
Retreg2	C	A	1: 75,123,185 (GRCm39)	P319Q	possibly damaging	Het
Robo2	T	C	16: 73,770,059 (GRCm39)	Y559C	probably damaging	Het
Ror1	T	C	4: 100,298,564 (GRCm39)	Y646H	probably damaging	Het
Rrp15	A	G	1: 186,481,373 (GRCm39)	S45P	probably benign	Het
Sacs	G	C	14: 61,429,652 (GRCm39)	K570N	probably benign	Het
Serpinb8	C	T	1: 107,534,723 (GRCm39)	Q265*	probably null	Het
Sgo2b	T	C	8: 64,380,318 (GRCm39)	E838G	probably damaging	Het
Slc2a12	G	A	10: 22,540,568 (GRCm39)	R141K	probably damaging	Het
Strc	G	T	2: 121,208,219 (GRCm39)	T384N	probably benign	Het
Tcaf2	T	C	6: 42,606,033 (GRCm39)	S547G	possibly damaging	Het
Tekt5	T	C	16: 10,200,792 (GRCm39)	N243S	possibly damaging	Het
Tgm3	A	G	2: 129,883,819 (GRCm39)	I492M	probably benign	Het
Tgm7	G	A	2: 120,934,421 (GRCm39)	T157I	probably benign	Het
Trnp1	C	A	4: 133,225,350 (GRCm39)	R140L	possibly damaging	Het
Ttn	A	G	2: 76,609,777 (GRCm39)	V15797A	probably damaging	Het
Ugp2	A	T	11: 21,283,762 (GRCm39)	S102T	probably benign	Het
Vav2	A	T	2: 27,172,299 (GRCm39)		probably null	Het
Vmn1r202	T	A	13: 22,686,241 (GRCm39)	I59F	probably damaging	Het
Yju2b	T	C	8: 84,988,411 (GRCm39)	E72G	probably damaging	Het
Zfp109	T	C	7: 23,928,570 (GRCm39)	T288A	probably benign	Het
Zscan12	T	A	13: 21,553,374 (GRCm39)	H399Q	probably damaging	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
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
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'- GGGCTAACTTGTACGTGGAC -3'
(R):5'- TGAAGACAGTTAAGTTAGTTGGGGC -3'

Sequencing Primer
(F):5'- CTTGTACGTGGACATCTGGAAAGC -3'
(R):5'- GTTAGTTGGGGCGCCGC -3'

Posted On

2019-12-03