Incidental Mutation 'IGL02167:Cul4a'
ID282737
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: 0.540) question?
Stock #IGL02167
Quality Score
Status
Chromosome8
Chromosomal Location13105621-13147940 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 13122826 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Serine at position 153 (F153S)
Ref Sequence ENSEMBL: ENSMUSP00000112525 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016680] [ENSMUST00000121426] [ENSMUST00000125514]
Predicted Effect probably damaging
Transcript: ENSMUST00000016680
AA Change: F153S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000016680
Gene: ENSMUSG00000031446
AA Change: F153S

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 damaging
Transcript: ENSMUST00000121426
AA Change: F153S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112525
Gene: ENSMUSG00000031446
AA Change: F153S

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
Aass T A 6: 23,122,722 probably benign Het
Cacna1f T C X: 7,616,019 Y581H probably damaging Het
Camsap1 C T 2: 25,934,300 R1416H probably damaging Het
Ccdc117 T C 11: 5,531,333 E266G possibly damaging Het
Ccdc9 A T 7: 16,284,359 L8* probably null Het
Cited2 T C 10: 17,724,270 S109P probably benign Het
Cnot4 T C 6: 35,056,224 D286G possibly damaging Het
Col5a1 T C 2: 28,018,556 I52T probably benign Het
Cry2 T C 2: 92,433,821 N68S possibly damaging Het
Ddr1 T C 17: 35,690,071 S261G possibly damaging Het
Depdc5 G A 5: 32,903,801 R324Q probably damaging Het
Dmgdh A G 13: 93,720,627 probably benign Het
Epha8 A T 4: 136,931,094 M990K probably damaging Het
Gpr137c G T 14: 45,279,955 G383C probably damaging Het
Hydin T A 8: 110,418,423 I802N possibly damaging Het
Ifne A G 4: 88,879,828 Y118H possibly damaging Het
Kansl2 T C 15: 98,533,515 probably benign Het
Lig4 T A 8: 9,971,821 N653I probably benign Het
Nagk A G 6: 83,801,106 D246G probably damaging Het
Nav1 A G 1: 135,470,961 S628P probably damaging Het
Ncoa3 A G 2: 166,070,136 Y1401C probably damaging Het
Ndufa9 A G 6: 126,844,785 probably benign Het
Nynrin G T 14: 55,863,335 R194L probably damaging Het
Olfr1115 G A 2: 87,252,198 C87Y probably benign Het
Olfr17 A T 7: 107,097,661 R65S probably benign Het
Olfr45 T A 7: 140,691,751 V282D probably damaging Het
Orc2 A T 1: 58,483,639 probably benign Het
Oxgr1 T A 14: 120,021,930 R288S probably damaging Het
Prkcg T C 7: 3,322,581 probably null Het
Prox1 T C 1: 190,161,280 N323D probably benign Het
Prrt1 A C 17: 34,631,855 E215A possibly damaging Het
Rab2b T C 14: 52,268,696 D103G probably damaging Het
Sardh G T 2: 27,191,975 N846K probably damaging Het
Slc38a8 T A 8: 119,487,360 T248S probably benign Het
Slc6a18 T C 13: 73,666,472 probably null Het
Smcp T C 3: 92,584,199 T114A unknown Het
Tmem8 T C 17: 26,119,071 S450P probably damaging Het
Trpv1 A G 11: 73,254,797 N754D probably damaging Het
Txnrd1 A T 10: 82,881,911 H243L probably benign Het
Wdfy3 T C 5: 101,961,157 M125V probably damaging Het
Wnk2 T C 13: 49,071,125 probably null Het
Wrn T C 8: 33,317,555 M292V probably damaging Het
Zbtb17 T C 4: 141,461,829 L20P possibly damaging Het
Zfp608 T C 18: 54,988,224 H97R probably damaging Het
Zfp68 T A 5: 138,606,367 M565L probably benign Het
Zfp687 T C 3: 95,010,530 T644A probably benign Het
Zfp777 C T 6: 48,044,526 G54D 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
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
X0026:Cul4a UTSW 8 13105871 missense possibly damaging 0.71
Posted On2015-04-16