Incidental Mutation 'R3743:Cyp4a31'
ID 270441
Institutional Source Beutler Lab
Gene Symbol Cyp4a31
Ensembl Gene ENSMUSG00000028712
Gene Name cytochrome P450, family 4, subfamily a, polypeptide 31
Synonyms
MMRRC Submission 040729-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.075) question?
Stock # R3743 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 115420846-115436212 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 115423716 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Proline at position 140 (Q140P)
Ref Sequence ENSEMBL: ENSMUSP00000030486 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030480] [ENSMUST00000030486] [ENSMUST00000126645] [ENSMUST00000141033]
AlphaFold F8WGU9
Predicted Effect possibly damaging
Transcript: ENSMUST00000030480
AA Change: Q125P

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000030480
Gene: ENSMUSG00000028712
AA Change: Q125P

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
Pfam:p450 51 415 3.6e-97 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000030486
AA Change: Q140P

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000030486
Gene: ENSMUSG00000028712
AA Change: Q140P

DomainStartEndE-ValueType
transmembrane domain 10 32 N/A INTRINSIC
Pfam:p450 51 504 2.6e-134 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000126645
AA Change: Q139P

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000117129
Gene: ENSMUSG00000028712
AA Change: Q139P

DomainStartEndE-ValueType
transmembrane domain 10 32 N/A INTRINSIC
Pfam:p450 51 340 4.3e-66 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000141033
AA Change: Q140P

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000115628
Gene: ENSMUSG00000028712
AA Change: Q140P

DomainStartEndE-ValueType
transmembrane domain 10 32 N/A INTRINSIC
Pfam:p450 51 155 2.9e-17 PFAM
Meta Mutation Damage Score 0.6077 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency 98% (43/44)
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013G24Rik A G 4: 137,182,348 (GRCm39) R168G probably damaging Het
1700030K09Rik A G 8: 73,199,013 (GRCm39) H140R probably benign Het
Adamts10 A G 17: 33,747,686 (GRCm39) I41V probably damaging Het
Arnt T C 3: 95,382,016 (GRCm39) V198A possibly damaging Het
Atg3 A G 16: 44,998,591 (GRCm39) probably null Het
Atmin T C 8: 117,683,312 (GRCm39) V324A probably benign Het
Ccdc88c G A 12: 100,914,843 (GRCm39) R464C probably damaging Het
Ccr7 G T 11: 99,036,033 (GRCm39) S296R possibly damaging Het
Cdh12 T A 15: 21,537,745 (GRCm39) S415R probably damaging Het
Cep162 A T 9: 87,099,230 (GRCm39) probably benign Het
Chd3 G A 11: 69,254,876 (GRCm39) R61* probably null Het
Cr2 A G 1: 194,832,274 (GRCm39) probably benign Het
Csf1r T C 18: 61,247,846 (GRCm39) S305P probably benign Het
Dhx40 A T 11: 86,661,985 (GRCm39) W691R probably damaging Het
Dlgap1 G A 17: 71,025,221 (GRCm39) probably null Het
Entr1 A G 2: 26,278,655 (GRCm39) probably benign Het
Exoc5 T C 14: 49,251,806 (GRCm39) I582V probably benign Het
Exoc5 A T 14: 49,270,864 (GRCm39) L387* probably null Het
Fbxw8 A G 5: 118,251,704 (GRCm39) S270P probably damaging Het
Fgf14 C A 14: 124,914,032 (GRCm39) G33V probably benign Het
Hoxd9 T A 2: 74,528,710 (GRCm39) V104E probably damaging Het
Igsf10 T C 3: 59,233,546 (GRCm39) H1729R possibly damaging Het
Irf8 C T 8: 121,480,310 (GRCm39) R274C probably damaging Het
Itgb4 G A 11: 115,894,496 (GRCm39) M1350I probably damaging Het
Lrrn4 A G 2: 132,711,786 (GRCm39) probably null Het
Map3k6 C T 4: 132,972,384 (GRCm39) T320I probably benign Het
Morc2a A G 11: 3,633,700 (GRCm39) E604G possibly damaging Het
Mtmr6 T C 14: 60,537,747 (GRCm39) I582T probably benign Het
Ninl A G 2: 150,792,168 (GRCm39) V785A probably benign Het
Obscn T C 11: 58,969,911 (GRCm39) E77G probably damaging Het
Or2b11 T C 11: 59,462,335 (GRCm39) Y77C probably damaging Het
Or2n1 T G 17: 38,486,793 (GRCm39) F273V probably damaging Het
Or4f61 A G 2: 111,922,965 (GRCm39) L27P probably benign Het
Pcdhb2 A G 18: 37,429,470 (GRCm39) D124G probably damaging Het
Pfkl G A 10: 77,832,179 (GRCm39) T304M probably damaging Het
Ppil4 T A 10: 7,696,935 (GRCm39) S483T unknown Het
Slc7a10 C T 7: 34,898,325 (GRCm39) T332I probably damaging Het
Spats2 T C 15: 99,108,795 (GRCm39) S382P probably benign Het
Stpg1 T A 4: 135,242,197 (GRCm39) D70E probably benign Het
Tmprss11e G A 5: 86,857,315 (GRCm39) Q333* probably null Het
Trpv1 A T 11: 73,145,128 (GRCm39) D430V probably damaging Het
Ttc23l G A 15: 10,537,652 (GRCm39) S206L probably benign Het
Ttc23l CT CTTGGATT 15: 10,537,648 (GRCm39) probably benign Het
Zc3h6 A G 2: 128,839,712 (GRCm39) Y175C probably damaging Het
Other mutations in Cyp4a31
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00429:Cyp4a31 APN 4 115,432,171 (GRCm39) unclassified probably benign
IGL01682:Cyp4a31 APN 4 115,435,228 (GRCm39) missense probably damaging 0.97
IGL02112:Cyp4a31 APN 4 115,428,180 (GRCm39) missense probably damaging 1.00
IGL02292:Cyp4a31 APN 4 115,423,698 (GRCm39) missense probably damaging 0.98
IGL02343:Cyp4a31 APN 4 115,421,026 (GRCm39) missense probably damaging 1.00
IGL02508:Cyp4a31 APN 4 115,428,261 (GRCm39) missense probably damaging 1.00
IGL03094:Cyp4a31 APN 4 115,435,305 (GRCm39) utr 3 prime probably benign
IGL03493:Cyp4a31 APN 4 115,427,952 (GRCm39) splice site probably null
R0400:Cyp4a31 UTSW 4 115,420,915 (GRCm39) start codon destroyed probably null 1.00
R1263:Cyp4a31 UTSW 4 115,431,908 (GRCm39) missense probably benign 0.01
R1508:Cyp4a31 UTSW 4 115,422,250 (GRCm39) missense possibly damaging 0.53
R1523:Cyp4a31 UTSW 4 115,426,951 (GRCm39) missense probably benign 0.23
R1822:Cyp4a31 UTSW 4 115,423,810 (GRCm39) splice site probably null
R1832:Cyp4a31 UTSW 4 115,426,928 (GRCm39) missense probably benign
R1872:Cyp4a31 UTSW 4 115,431,933 (GRCm39) missense probably damaging 0.99
R2351:Cyp4a31 UTSW 4 115,428,510 (GRCm39) missense possibly damaging 0.95
R2426:Cyp4a31 UTSW 4 115,428,213 (GRCm39) missense probably damaging 0.98
R2993:Cyp4a31 UTSW 4 115,427,017 (GRCm39) missense probably benign 0.03
R3812:Cyp4a31 UTSW 4 115,423,706 (GRCm39) missense probably benign
R3963:Cyp4a31 UTSW 4 115,431,969 (GRCm39) unclassified probably benign
R4211:Cyp4a31 UTSW 4 115,422,210 (GRCm39) missense probably benign 0.01
R4814:Cyp4a31 UTSW 4 115,427,466 (GRCm39) missense probably damaging 1.00
R6245:Cyp4a31 UTSW 4 115,428,545 (GRCm39) missense possibly damaging 0.91
R6255:Cyp4a31 UTSW 4 115,432,117 (GRCm39) missense possibly damaging 0.82
R6330:Cyp4a31 UTSW 4 115,421,074 (GRCm39) missense probably damaging 0.99
R6433:Cyp4a31 UTSW 4 115,427,466 (GRCm39) missense probably damaging 1.00
R6602:Cyp4a31 UTSW 4 115,426,904 (GRCm39) critical splice acceptor site probably null
R6844:Cyp4a31 UTSW 4 115,420,989 (GRCm39) missense probably null 0.00
R7154:Cyp4a31 UTSW 4 115,431,963 (GRCm39) critical splice donor site probably null
R7300:Cyp4a31 UTSW 4 115,427,468 (GRCm39) missense probably benign 0.03
R8188:Cyp4a31 UTSW 4 115,426,943 (GRCm39) missense probably benign 0.29
R8557:Cyp4a31 UTSW 4 115,427,438 (GRCm39) missense possibly damaging 0.93
R8692:Cyp4a31 UTSW 4 115,423,769 (GRCm39) missense probably damaging 0.98
R8696:Cyp4a31 UTSW 4 115,422,225 (GRCm39) missense probably benign 0.43
R8728:Cyp4a31 UTSW 4 115,422,225 (GRCm39) missense probably benign 0.43
R8753:Cyp4a31 UTSW 4 115,432,158 (GRCm39) missense probably benign 0.37
R8822:Cyp4a31 UTSW 4 115,422,225 (GRCm39) missense probably benign 0.43
R8942:Cyp4a31 UTSW 4 115,426,918 (GRCm39) missense possibly damaging 0.87
R9230:Cyp4a31 UTSW 4 115,428,281 (GRCm39) nonsense probably null
R9672:Cyp4a31 UTSW 4 115,427,422 (GRCm39) missense probably benign 0.05
X0020:Cyp4a31 UTSW 4 115,422,306 (GRCm39) missense probably benign 0.06
X0021:Cyp4a31 UTSW 4 115,435,158 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AACAGTTCCACTATGTCGCTCC -3'
(R):5'- CTGTGGCAGTAGTAGTAGCAG -3'

Sequencing Primer
(F):5'- TAGATCTCACTCTGTAGACCAGG -3'
(R):5'- TAGTAGTAGCAGAAGAAGCAGCTG -3'
Posted On 2015-03-18