Incidental Mutation 'IGL01688:Cul4a'
ID104000
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cul4a
Ensembl Gene ENSMUSG00000031446
Gene Namecullin 4A
Synonyms2810470J21Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.478) question?
Stock #IGL01688
Quality Score
Status
Chromosome8
Chromosomal Location13105621-13147940 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to T at 13146571 bp
ZygosityHeterozygous
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*

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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
X0026:Cul4a UTSW 8 13105871 missense possibly damaging 0.71
Posted On2014-01-21