Mutagenetix > Incidental Mutation

Incidental Mutation 'R1508:Cep76'

168098

Institutional Source

Beutler Lab

Gene Symbol

Cep76

Ensembl Gene

ENSMUSG00000073542

Gene Name

centrosomal protein 76

Synonyms

6230425F05Rik

MMRRC Submission

040869-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1508 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

67750870-67774406 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 67756358 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 491 (M491T)

Ref Sequence

ENSEMBL: ENSMUSP00000095149 (fasta)

Gene Model

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

AlphaFold

Q0VEJ0

Predicted Effect

probably damaging
Transcript: ENSMUST00000097542
AA Change: M491T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000095149
Gene: ENSMUSG00000073542
AA Change: M491T

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: 99.2%
3x: 98.4%
10x: 96.7%
20x: 93.8%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agbl4	T	C	4: 111,513,595 (GRCm39)	I447T	probably benign	Het
Albfm1	A	G	5: 90,729,780 (GRCm39)	E401G	probably benign	Het
Alpk2	C	A	18: 65,482,376 (GRCm39)	G544V	probably damaging	Het
Apob	T	C	12: 8,061,481 (GRCm39)	I3321T	possibly damaging	Het
Ccdc47	C	T	11: 106,093,242 (GRCm39)	D70N	probably damaging	Het
Ceacam13	T	A	7: 17,744,996 (GRCm39)	V22D	possibly damaging	Het
Clec4a3	A	T	6: 122,944,467 (GRCm39)	N171I	probably benign	Het
Col20a1	A	G	2: 180,634,370 (GRCm39)	I112V	probably damaging	Het
Col4a4	A	T	1: 82,433,557 (GRCm39)	L1462H	unknown	Het
Cubn	A	G	2: 13,431,916 (GRCm39)	F1226L	probably benign	Het
Cyp4a31	T	A	4: 115,422,250 (GRCm39)	I77K	possibly damaging	Het
Dcaf1	A	T	9: 106,731,376 (GRCm39)	T618S	probably damaging	Het
Echdc3	A	T	2: 6,211,231 (GRCm39)	S129T	probably benign	Het
Efcab3	T	C	11: 104,601,503 (GRCm39)	V272A	probably benign	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fat1	T	C	8: 45,479,899 (GRCm39)	F2982L	probably benign	Het
Gm9476	A	T	10: 100,142,700 (GRCm39)		noncoding transcript	Het
Golga1	A	G	2: 38,913,261 (GRCm39)	M542T	probably benign	Het
H2-D1	T	A	17: 35,482,844 (GRCm39)	C125S	probably damaging	Het
Jazf1	G	A	6: 52,789,166 (GRCm39)	H103Y	probably damaging	Het
Klhl12	T	C	1: 134,416,712 (GRCm39)	V478A	possibly damaging	Het
Lpcat2b	A	T	5: 107,581,330 (GRCm39)	T220S	probably damaging	Het
Myocd	C	T	11: 65,075,342 (GRCm39)	C594Y	probably damaging	Het
Nf1	A	G	11: 79,331,735 (GRCm39)	E700G	probably damaging	Het
Or52z15	T	C	7: 103,332,678 (GRCm39)	V251A	possibly damaging	Het
Or6k2	T	A	1: 173,986,930 (GRCm39)	M197K	possibly damaging	Het
Papln	A	G	12: 83,829,690 (GRCm39)	Q937R	probably damaging	Het
Pex14	T	C	4: 149,052,029 (GRCm39)	R147G	probably damaging	Het
Plppr3	A	T	10: 79,703,374 (GRCm39)	Y37N	probably damaging	Het
Polr1b	A	G	2: 128,955,654 (GRCm39)	T522A	probably benign	Het
Ppp3cb	T	C	14: 20,574,492 (GRCm39)	N201S	probably damaging	Het
Prf1	A	G	10: 61,139,329 (GRCm39)	D429G	probably damaging	Het
Ptprn2	T	C	12: 117,148,342 (GRCm39)	S701P	probably damaging	Het
Rp1l1	C	T	14: 64,268,341 (GRCm39)	T1309I	possibly damaging	Het
Sipa1l1	T	A	12: 82,487,667 (GRCm39)	M1647K	probably damaging	Het
Skint11	T	C	4: 114,088,963 (GRCm39)		probably null	Het
Slc8a2	T	C	7: 15,874,522 (GRCm39)	Y257H	probably benign	Het
Slfn1	T	A	11: 83,012,181 (GRCm39)	I99N	probably damaging	Het
Slit2	A	G	5: 48,349,591 (GRCm39)	T282A	probably damaging	Het
Slit3	A	T	11: 35,461,448 (GRCm39)	D228V	probably damaging	Het
Specc1l	A	G	10: 75,143,072 (GRCm39)	N1031S	probably benign	Het
Supt6	A	G	11: 78,107,029 (GRCm39)		probably null	Het
Tdrd1	G	A	19: 56,839,790 (GRCm39)	E617K	probably damaging	Het
Tex15	C	G	8: 34,066,880 (GRCm39)	F2103L	probably damaging	Het
Trim21	T	A	7: 102,208,783 (GRCm39)	Q312L	possibly damaging	Het
Trim56	C	T	5: 137,142,791 (GRCm39)	A242T	probably benign	Het
Usp4	T	C	9: 108,249,873 (GRCm39)	V467A	probably benign	Het
Vmn2r65	T	A	7: 84,589,886 (GRCm39)	I677L	probably benign	Het
Vstm4	T	C	14: 32,585,511 (GRCm39)	V26A	probably damaging	Het
Zbtb14	C	G	17: 69,694,759 (GRCm39)	I152M	probably benign	Het
Zfat	T	A	15: 68,050,600 (GRCm39)	K807I	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
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

Predicted Primers

PCR Primer
(F):5'- AACTGTCTCATGGCTTCTGCCACTA -3'
(R):5'- AATCCTGACGGACCTCCACTTGCT -3'

Sequencing Primer
(F):5'- cccaggttcagttcccag -3'
(R):5'- TCCACTTGCTGAGCAGCC -3'

Posted On

2014-04-13