Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01688:Cul4a'

104000

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cul4a

Ensembl Gene

ENSMUSG00000031446

Gene Name

cullin 4A

Synonyms

2810470J21Rik

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.646) question?

Stock #

IGL01688

Quality Score

Status

Chromosome

Chromosomal Location

13105621-13147940 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 13146571 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 742 (R742*)

Ref Sequence

ENSEMBL: ENSMUSP00000016680 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000016680] [ENSMUST00000125514]

Predicted Effect

probably null
Transcript: ENSMUST00000016680
AA Change: R742*

SMART Domains

Protein: ENSMUSP00000016680
Gene: ENSMUSG00000031446
AA Change: R742*

Domain	Start	End	E-Value	Type
low complexity region	20	39	N/A	INTRINSIC
SCOP:d1ldja2	61	401	1e-118	SMART
Blast:CULLIN	83	151	5e-9	BLAST
CULLIN	434	582	1.6e-76	SMART
Blast:CULLIN	585	640	7e-28	BLAST
Cullin_Nedd8	688	753	8.29e-35	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000125514

SMART Domains

Protein: ENSMUSP00000123074
Gene: ENSMUSG00000031446

Domain	Start	End	E-Value	Type
Pfam:Cullin	1	68	5.6e-13	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125646

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139316

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142700

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] CUL4A is the ubiquitin ligase component of a multimeric complex involved in the degradation of DNA damage-response proteins (Liu et al., 2009 [PubMed 19481525]).[supplied by OMIM, Oct 2009]
PHENOTYPE: Mice homozygous for one knock-out allele exhibit reduced female fertility, male infertility, impaired spermatogenesis, and impaired DNA repair. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	T	C	10: 87,165,123	L59P	probably damaging	Het
Ccin	A	T	4: 43,984,985	E464V	possibly damaging	Het
Cfap58	A	G	19: 47,974,567	D472G	probably benign	Het
Col28a1	C	T	6: 7,998,517	E1131K	probably damaging	Het
Cpne2	A	G	8: 94,554,753	T196A	possibly damaging	Het
Cyp21a1	T	A	17: 34,802,220	I370F	probably damaging	Het
Ddx51	T	C	5: 110,655,647	F332L	probably benign	Het
Gm8232	A	G	14: 44,433,722	D29G	unknown	Het
Got1	A	G	19: 43,524,336		probably null	Het
Gpat4	A	G	8: 23,181,845	I58T	probably benign	Het
Hdac3	T	A	18: 37,954,879	D12V	possibly damaging	Het
Helb	T	C	10: 120,108,980	H217R	probably damaging	Het
Hpf1	A	T	8: 60,896,796	I153L	probably benign	Het
Lgsn	G	A	1: 31,204,405	D523N	probably damaging	Het
Lrrc63	A	G	14: 75,084,982	S561P	possibly damaging	Het
Myh6	G	A	14: 54,963,960	T94I	possibly damaging	Het
Mzt2	T	C	16: 15,862,929		probably benign	Het
Ndufb5	T	A	3: 32,746,464	L62*	probably null	Het
Nek1	A	T	8: 61,105,597	R970*	probably null	Het
Nepro	T	C	16: 44,736,006	L509P	probably damaging	Het
Pank1	T	A	19: 34,840,852	I96F	probably damaging	Het
Parp11	C	A	6: 127,471,606	T62K	probably benign	Het
Pla2g2e	T	A	4: 138,879,470		probably benign	Het
Plekha5	T	A	6: 140,569,389	Y207N	probably damaging	Het
Pomt2	T	A	12: 87,147,520	I37F	probably benign	Het
Prl6a1	T	A	13: 27,317,986	V117E	probably damaging	Het
Prmt3	T	A	7: 49,848,732		probably null	Het
Rcor3	T	A	1: 192,123,600	E20V	probably damaging	Het
Rere	A	G	4: 150,618,436	D1449G	probably damaging	Het
Ric1	T	C	19: 29,577,614	V376A	probably benign	Het
Rims1	G	A	1: 22,397,540	T873I	probably benign	Het
Rras2	T	C	7: 114,060,397	D44G	probably damaging	Het
Sbk2	C	T	7: 4,957,717		probably benign	Het
Slit1	A	G	19: 41,729,106	I73T	probably damaging	Het
Spice1	T	A	16: 44,384,710	M793K	probably benign	Het
Suco	T	C	1: 161,863,911		probably null	Het
Tarbp1	A	T	8: 126,447,551	W839R	probably damaging	Het
Trpc4	T	A	3: 54,266,074		probably benign	Het
Tubgcp5	T	C	7: 55,815,018	V549A	possibly damaging	Het
Ubap2	T	A	4: 41,226,308	T182S	probably benign	Het
Wrn	A	C	8: 33,310,702		probably benign	Het
Zc3h15	A	G	2: 83,662,192	Y337C	probably damaging	Het
Zfp292	T	A	4: 34,807,855	I1730F	possibly damaging	Het
Zfp609	A	G	9: 65,704,025	V552A	probably benign	Het

Other mutations in Cul4a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00720:Cul4a	APN	8	13127735	missense	probably benign	0.18
IGL00952:Cul4a	APN	8	13146562	missense	probably damaging	1.00
IGL01604:Cul4a	APN	8	13133843	critical splice donor site	probably null
IGL02167:Cul4a	APN	8	13122826	missense	probably damaging	1.00
IGL02927:Cul4a	APN	8	13124861	missense	possibly damaging	0.55
IGL03066:Cul4a	APN	8	13133776	missense	probably benign	0.22
R0183:Cul4a	UTSW	8	13133790	missense	probably damaging	0.98
R1600:Cul4a	UTSW	8	13123954	missense	probably damaging	1.00
R1860:Cul4a	UTSW	8	13123565	missense	probably damaging	1.00
R1865:Cul4a	UTSW	8	13142589	missense	possibly damaging	0.94
R1905:Cul4a	UTSW	8	13133171	missense	probably benign	0.06
R1964:Cul4a	UTSW	8	13136406	missense	possibly damaging	0.62
R1964:Cul4a	UTSW	8	13136854	missense	probably benign	0.00
R2381:Cul4a	UTSW	8	13136887	missense	probably benign	0.45
R3787:Cul4a	UTSW	8	13133668	missense	probably damaging	0.99
R4006:Cul4a	UTSW	8	13122859	missense	probably benign	0.04
R4007:Cul4a	UTSW	8	13122859	missense	probably benign	0.04
R4748:Cul4a	UTSW	8	13123526	missense	probably benign	0.06
R5244:Cul4a	UTSW	8	13146566	missense	probably damaging	1.00
R6389:Cul4a	UTSW	8	13140278	missense	probably benign
R6736:Cul4a	UTSW	8	13136219	missense	probably benign	0.00
R7201:Cul4a	UTSW	8	13142991	missense	probably damaging	0.98
R7313:Cul4a	UTSW	8	13121676	critical splice acceptor site	probably benign
R7446:Cul4a	UTSW	8	13136874	missense	probably benign
R7485:Cul4a	UTSW	8	13140279	missense	possibly damaging	0.68
R7569:Cul4a	UTSW	8	13123493	missense	probably benign
R8219:Cul4a	UTSW	8	13146540	missense	possibly damaging	0.91
R8304:Cul4a	UTSW	8	13127727	missense	possibly damaging	0.88
X0026:Cul4a	UTSW	8	13105871	missense	possibly damaging	0.71

Posted On

2014-01-21