Incidental Mutation 'R4006:Cul4a'
ID 311477
Institutional Source Beutler Lab
Gene Symbol Cul4a
Ensembl Gene ENSMUSG00000031446
Gene Name cullin 4A
Synonyms 2810470J21Rik
MMRRC Submission 040845-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.668) question?
Stock # R4006 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 13155623-13197940 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 13172859 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 164 (N164S)
Ref Sequence ENSEMBL: ENSMUSP00000112525 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016680] [ENSMUST00000121426] [ENSMUST00000125514]
AlphaFold Q3TCH7
Predicted Effect probably benign
Transcript: ENSMUST00000016680
AA Change: N164S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000016680
Gene: ENSMUSG00000031446
AA Change: N164S

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
AA Change: N164S

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000112525
Gene: ENSMUSG00000031446
AA Change: N164S

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
Meta Mutation Damage Score 0.1610 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.2%
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts14 A G 10: 61,038,600 (GRCm39) probably null Het
Ano4 C A 10: 88,924,125 (GRCm39) V329L probably benign Het
Camkv C T 9: 107,823,840 (GRCm39) R196W probably damaging Het
Chd9 T C 8: 91,660,188 (GRCm39) S383P probably benign Het
Cimip1 T C 2: 173,367,880 (GRCm39) probably null Het
Dsg4 G A 18: 20,604,022 (GRCm39) E830K probably damaging Het
Fbln2 C A 6: 91,246,943 (GRCm39) probably null Het
Grm8 T C 6: 27,981,229 (GRCm39) Y227C probably damaging Het
Gsn G A 2: 35,197,633 (GRCm39) W717* probably null Het
Htr2a A T 14: 74,879,581 (GRCm39) H70L probably benign Het
Igfn1 C T 1: 135,910,100 (GRCm39) probably null Het
Iqsec3 A G 6: 121,353,187 (GRCm39) S1144P probably damaging Het
Lpin2 C T 17: 71,553,496 (GRCm39) T878I probably damaging Het
Lrrn2 A T 1: 132,865,478 (GRCm39) D181V probably damaging Het
Mc1r T C 8: 124,134,376 (GRCm39) F43S probably damaging Het
Mst1 A G 9: 107,960,147 (GRCm39) E377G possibly damaging Het
Nfatc3 T A 8: 106,835,471 (GRCm39) I931N probably benign Het
Nup188 G A 2: 30,199,890 (GRCm39) D305N probably damaging Het
Or5e1 C T 7: 108,354,468 (GRCm39) T135I probably damaging Het
Or8k35 T C 2: 86,424,908 (GRCm39) D88G probably benign Het
Pate3 T A 9: 35,557,398 (GRCm39) H86L probably damaging Het
Pla2r1 A T 2: 60,353,217 (GRCm39) F248Y probably damaging Het
Ppp1r37 A G 7: 19,268,994 (GRCm39) S169P probably damaging Het
Pramex1 A T X: 134,514,374 (GRCm39) L305Q probably damaging Het
Prkcg G A 7: 3,375,983 (GRCm39) V492I probably damaging Het
Psmb11 T A 14: 54,863,103 (GRCm39) V107E probably damaging Het
Reg1 A G 6: 78,404,013 (GRCm39) D60G probably null Het
Shoc1 A T 4: 59,076,500 (GRCm39) V481D possibly damaging Het
Syce1 C A 7: 140,359,809 (GRCm39) L83F probably damaging Het
Trim23 A G 13: 104,324,131 (GRCm39) T177A probably benign Het
Xkr4 A T 1: 3,491,998 (GRCm39) F308L probably benign Het
Xylt1 A G 7: 117,074,748 (GRCm39) I122V probably benign Het
Zan T C 5: 137,462,201 (GRCm39) T993A unknown Het
Zbtb20 T C 16: 43,429,762 (GRCm39) L18P probably damaging Het
Zfp292 T C 4: 34,807,744 (GRCm39) I1767V probably benign Het
Zfp292 G T 4: 34,809,611 (GRCm39) S1144R possibly damaging Het
Zfp317 T G 9: 19,559,333 (GRCm39) W516G possibly damaging Het
Zfp974 G A 7: 27,611,677 (GRCm39) T16I possibly damaging Het
Other mutations in Cul4a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00720:Cul4a APN 8 13,177,735 (GRCm39) missense probably benign 0.18
IGL00952:Cul4a APN 8 13,196,562 (GRCm39) missense probably damaging 1.00
IGL01604:Cul4a APN 8 13,183,843 (GRCm39) critical splice donor site probably null
IGL01688:Cul4a APN 8 13,196,571 (GRCm39) nonsense probably null
IGL02167:Cul4a APN 8 13,172,826 (GRCm39) missense probably damaging 1.00
IGL02927:Cul4a APN 8 13,174,861 (GRCm39) missense possibly damaging 0.55
IGL03066:Cul4a APN 8 13,183,776 (GRCm39) missense probably benign 0.22
R0183:Cul4a UTSW 8 13,183,790 (GRCm39) missense probably damaging 0.98
R1600:Cul4a UTSW 8 13,173,954 (GRCm39) missense probably damaging 1.00
R1860:Cul4a UTSW 8 13,173,565 (GRCm39) missense probably damaging 1.00
R1865:Cul4a UTSW 8 13,192,589 (GRCm39) missense possibly damaging 0.94
R1905:Cul4a UTSW 8 13,183,171 (GRCm39) missense probably benign 0.06
R1964:Cul4a UTSW 8 13,186,854 (GRCm39) missense probably benign 0.00
R1964:Cul4a UTSW 8 13,186,406 (GRCm39) missense possibly damaging 0.62
R2381:Cul4a UTSW 8 13,186,887 (GRCm39) missense probably benign 0.45
R3787:Cul4a UTSW 8 13,183,668 (GRCm39) missense probably damaging 0.99
R4007:Cul4a UTSW 8 13,172,859 (GRCm39) missense probably benign 0.04
R4748:Cul4a UTSW 8 13,173,526 (GRCm39) missense probably benign 0.06
R5244:Cul4a UTSW 8 13,196,566 (GRCm39) missense probably damaging 1.00
R6389:Cul4a UTSW 8 13,190,278 (GRCm39) missense probably benign
R6736:Cul4a UTSW 8 13,186,219 (GRCm39) missense probably benign 0.00
R7201:Cul4a UTSW 8 13,192,991 (GRCm39) missense probably damaging 0.98
R7313:Cul4a UTSW 8 13,171,676 (GRCm39) critical splice acceptor site probably benign
R7446:Cul4a UTSW 8 13,186,874 (GRCm39) missense probably benign
R7485:Cul4a UTSW 8 13,190,279 (GRCm39) missense possibly damaging 0.68
R7569:Cul4a UTSW 8 13,173,493 (GRCm39) missense probably benign
R8219:Cul4a UTSW 8 13,196,540 (GRCm39) missense possibly damaging 0.91
R8304:Cul4a UTSW 8 13,177,727 (GRCm39) missense possibly damaging 0.88
R9152:Cul4a UTSW 8 13,155,799 (GRCm39) missense probably benign
R9579:Cul4a UTSW 8 13,186,147 (GRCm39) missense probably damaging 1.00
R9726:Cul4a UTSW 8 13,156,208 (GRCm39) missense probably benign 0.00
X0026:Cul4a UTSW 8 13,155,871 (GRCm39) missense possibly damaging 0.71
Predicted Primers PCR Primer
(F):5'- GTATATGCGGGGTTCCATCAG -3'
(R):5'- ACTGTCTCCAGCAACCACTG -3'

Sequencing Primer
(F):5'- TCAGGAATGATTGACACTTTGAAGGC -3'
(R):5'- CAACCACTGTTGCTGTAACTG -3'
Posted On 2015-04-29