Incidental Mutation 'IGL02927:Cul4a'
ID363932
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 essential (E-score: 0.616) question?
Stock #IGL02927
Quality Score
Status
Chromosome8
Chromosomal Location13105621-13147940 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 13124861 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 279 (D279G)
Ref Sequence ENSEMBL: ENSMUSP00000016680 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016680] [ENSMUST00000121426] [ENSMUST00000125514]
Predicted Effect possibly damaging
Transcript: ENSMUST00000016680
AA Change: D279G

PolyPhen 2 Score 0.548 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000016680
Gene: ENSMUSG00000031446
AA Change: D279G

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: ENSMUST00000121426
SMART Domains Protein: ENSMUSP00000112525
Gene: ENSMUSG00000031446

DomainStartEndE-ValueType
low complexity region 20 39 N/A INTRINSIC
Pfam:Cullin 63 259 3.1e-40 PFAM
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: ENSMUST00000141315
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700122O11Rik G A 17: 48,036,920 Q192* probably null Het
Actl7b C A 4: 56,740,609 D250Y probably damaging Het
Akr1a1 T A 4: 116,637,983 N273I probably damaging Het
Arhgap32 T A 9: 32,261,135 I1737N possibly damaging Het
Cant1 T C 11: 118,411,062 D143G probably benign Het
Cast T A 13: 74,736,994 D295V probably damaging Het
Cdh1 A G 8: 106,668,511 N851D probably damaging Het
Cntn1 G A 15: 92,291,680 R628H probably benign Het
Cyp2s1 T C 7: 25,808,152 K291E probably benign Het
Dhx35 A T 2: 158,820,416 I205F probably damaging Het
Dpp8 G T 9: 65,060,269 R518L probably benign Het
Fam35a T C 14: 34,267,701 Y416C probably damaging Het
Gm9 A G X: 37,210,554 I34T possibly damaging Het
Hmcn1 A T 1: 150,577,278 C5429S probably damaging Het
Iqgap2 A C 13: 95,724,676 L314R possibly damaging Het
Itgav A C 2: 83,795,540 Y810S probably damaging Het
Kcng4 G T 8: 119,626,322 P283Q probably benign Het
Lrrn3 T A 12: 41,453,344 I325F probably damaging Het
Lzts3 A G 2: 130,637,957 probably benign Het
March7 T C 2: 60,236,918 I594T probably damaging Het
Matn2 A T 15: 34,355,655 I269F probably damaging Het
Matn4 A G 2: 164,389,837 F591S probably damaging Het
Mknk1 C T 4: 115,857,091 R20C probably damaging Het
Mrgbp T C 2: 180,584,479 V115A probably damaging Het
Mrgprb8 C T 7: 48,388,625 Q15* probably null Het
Naa38 T C 11: 69,395,917 L9P probably damaging Het
Nrn1 C A 13: 36,730,106 probably null Het
Olfr131 T A 17: 38,082,223 M252L probably benign Het
Olfr1501 G A 19: 13,838,924 T83I probably benign Het
Olfr525 T A 7: 140,322,741 L14Q probably damaging Het
Pkd1 A G 17: 24,575,189 N1950S probably damaging Het
Plagl2 A G 2: 153,232,279 L234P probably damaging Het
Psmb11 C T 14: 54,625,651 R109W probably damaging Het
Rcc1 C T 4: 132,337,756 R139H probably benign Het
Rsbn1 A G 3: 103,962,352 T710A probably benign Het
Slitrk4 A G X: 64,271,327 I578T possibly damaging Het
Srgap1 T C 10: 121,855,462 Y289C probably damaging Het
Stxbp2 A G 8: 3,642,685 D579G possibly damaging Het
Tg T C 15: 66,678,093 Y235H probably damaging Het
Thbs3 A G 3: 89,220,207 N385S probably damaging Het
Trmo A G 4: 46,387,602 S80P probably damaging Het
Ubc T C 5: 125,386,137 K709E probably benign Het
Vstm4 C T 14: 32,937,788 P296S probably damaging Het
Wdr11 G A 7: 129,607,098 probably null Het
Wdr19 T C 5: 65,252,378 I1153T possibly damaging Het
Xpo6 T C 7: 126,156,729 E213G possibly damaging Het
Zxdc A C 6: 90,372,562 T311P probably damaging 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
IGL01688:Cul4a APN 8 13146571 nonsense probably null
IGL02167:Cul4a APN 8 13122826 missense probably damaging 1.00
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 On2015-12-18