Incidental Mutation 'R9672:Cyp4a30b'
ID 728075
Institutional Source Beutler Lab
Gene Symbol Cyp4a30b
Ensembl Gene ENSMUSG00000084346
Gene Name cytochrome P450, family 4, subfamily a, polypeptide 30b
Synonyms Cyp4a30b-ps, OTTMUSG00000008626
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.083) question?
Stock # R9672 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 115309801-115328259 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 115316576 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 401 (C401S)
Ref Sequence ENSEMBL: ENSMUSP00000140857 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000119958]
AlphaFold A0A087WS15
Predicted Effect probably benign
Transcript: ENSMUST00000119958
AA Change: C401S

PolyPhen 2 Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000140857
Gene: ENSMUSG00000084346
AA Change: C401S

DomainStartEndE-ValueType
transmembrane domain 10 32 N/A INTRINSIC
Pfam:p450 52 503 1.4e-119 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 G T 10: 79,838,563 (GRCm39) K612N probably null Het
Atrnl1 G A 19: 57,618,695 (GRCm39) A138T possibly damaging Het
Bicc1 T C 10: 70,794,666 (GRCm39) T164A probably damaging Het
Bnip3l G A 14: 67,246,214 (GRCm39) P7L possibly damaging Het
Ccdc7a A G 8: 129,671,016 (GRCm39) S497P unknown Het
Cd209d C G 8: 3,922,036 (GRCm39) G212A probably damaging Het
Cog8 A G 8: 107,780,658 (GRCm39) I200T probably damaging Het
Cuzd1 T A 7: 130,919,847 (GRCm39) I90F possibly damaging Het
Cyp4a31 T A 4: 115,427,422 (GRCm39) N209K probably benign Het
D6Ertd527e G C 6: 87,088,839 (GRCm39) S334T unknown Het
Dcaf11 T A 14: 55,806,484 (GRCm39) Y468* probably null Het
Dennd4a A G 9: 64,800,640 (GRCm39) D926G probably benign Het
Dph7 T C 2: 24,855,606 (GRCm39) L135P probably benign Het
Fcho2 A T 13: 98,869,178 (GRCm39) C564* probably null Het
Gabrb2 G A 11: 42,312,207 (GRCm39) G11R probably benign Het
Gas6 A G 8: 13,528,273 (GRCm39) S187P probably benign Het
Gemin5 C T 11: 58,058,585 (GRCm39) V93I probably benign Het
Gldn A T 9: 54,245,780 (GRCm39) I444F probably damaging Het
Gmps T C 3: 63,897,750 (GRCm39) V234A probably damaging Het
Hand1 A G 11: 57,722,516 (GRCm39) S33P possibly damaging Het
Ice2 G A 9: 69,322,899 (GRCm39) A465T probably benign Het
Irf9 T C 14: 55,842,129 (GRCm39) S2P probably benign Het
Kpna7 C T 5: 144,944,776 (GRCm39) M21I probably benign Het
Lig4 A G 8: 10,023,213 (GRCm39) M189T probably damaging Het
Lrp1b T C 2: 40,779,291 (GRCm39) T2698A Het
Med10 A G 13: 69,963,711 (GRCm39) K104R probably benign Het
Mfsd14b A G 13: 65,260,320 (GRCm39) W38R probably benign Het
Mrgpra2a A G 7: 47,076,490 (GRCm39) F256S probably benign Het
Myo9a A G 9: 59,687,332 (GRCm39) K146E probably benign Het
Oxgr1 T A 14: 120,259,454 (GRCm39) Y251F probably damaging Het
Pabpc4 T C 4: 123,184,133 (GRCm39) probably null Het
Pde8a A G 7: 80,942,014 (GRCm39) N151S probably damaging Het
Pdilt A G 7: 119,100,824 (GRCm39) F176L possibly damaging Het
Plekhg5 C A 4: 152,187,541 (GRCm39) D115E probably benign Het
Plxnd1 C T 6: 115,940,274 (GRCm39) R1370Q possibly damaging Het
Ppp1r9a T C 6: 5,007,889 (GRCm39) C532R unknown Het
Rasa2 A G 9: 96,427,781 (GRCm39) W695R probably damaging Het
Rbpms2 A G 9: 65,538,118 (GRCm39) N3S probably benign Het
Rsph6a A G 7: 18,799,842 (GRCm39) Y491C probably damaging Het
Scel T A 14: 103,836,838 (GRCm39) N495K possibly damaging Het
Setd1a T C 7: 127,385,237 (GRCm39) L648P possibly damaging Het
Snx29 A T 16: 11,478,515 (GRCm39) R333S probably benign Het
Sppl2c A G 11: 104,077,344 (GRCm39) Y48C probably damaging Het
Uba2 A T 7: 33,856,749 (GRCm39) N230K probably benign Het
Utrn T C 10: 12,603,613 (GRCm39) Q589R possibly damaging Het
Vmn1r51 T A 6: 90,106,549 (GRCm39) L155H probably damaging Het
Vmn2r97 A G 17: 19,149,442 (GRCm39) N277D probably benign Het
Wdr97 T A 15: 76,240,377 (GRCm39) V355E Het
Yy1 C A 12: 108,759,584 (GRCm39) H82Q unknown Het
Other mutations in Cyp4a30b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03184:Cyp4a30b APN 4 115,316,216 (GRCm39) missense probably damaging 1.00
IGL03233:Cyp4a30b APN 4 115,316,167 (GRCm39) missense probably benign 0.08
sly UTSW 4 115,315,493 (GRCm39) missense probably benign 0.00
tricky UTSW 4 115,311,662 (GRCm39) nonsense probably null
R1394:Cyp4a30b UTSW 4 115,328,089 (GRCm39) critical splice acceptor site probably null
R2870:Cyp4a30b UTSW 4 115,315,559 (GRCm39) missense possibly damaging 0.64
R2870:Cyp4a30b UTSW 4 115,315,559 (GRCm39) missense possibly damaging 0.64
R2871:Cyp4a30b UTSW 4 115,315,559 (GRCm39) missense possibly damaging 0.64
R2871:Cyp4a30b UTSW 4 115,315,559 (GRCm39) missense possibly damaging 0.64
R2872:Cyp4a30b UTSW 4 115,315,559 (GRCm39) missense possibly damaging 0.64
R2872:Cyp4a30b UTSW 4 115,315,559 (GRCm39) missense possibly damaging 0.64
R2873:Cyp4a30b UTSW 4 115,315,559 (GRCm39) missense possibly damaging 0.64
R3818:Cyp4a30b UTSW 4 115,316,206 (GRCm39) missense probably damaging 1.00
R4052:Cyp4a30b UTSW 4 115,311,539 (GRCm39) missense probably benign 0.00
R4684:Cyp4a30b UTSW 4 115,312,200 (GRCm39) missense probably damaging 1.00
R5558:Cyp4a30b UTSW 4 115,316,063 (GRCm39) missense probably damaging 1.00
R5997:Cyp4a30b UTSW 4 115,316,588 (GRCm39) nonsense probably null
R6242:Cyp4a30b UTSW 4 115,311,587 (GRCm39) missense possibly damaging 0.48
R6511:Cyp4a30b UTSW 4 115,313,905 (GRCm39) missense probably damaging 1.00
R6759:Cyp4a30b UTSW 4 115,318,571 (GRCm39) missense probably benign 0.02
R7285:Cyp4a30b UTSW 4 115,313,848 (GRCm39) missense probably damaging 1.00
R8154:Cyp4a30b UTSW 4 115,315,493 (GRCm39) missense probably benign 0.00
R8314:Cyp4a30b UTSW 4 115,315,535 (GRCm39) missense probably benign 0.00
R8439:Cyp4a30b UTSW 4 115,314,972 (GRCm39) missense probably benign 0.44
R8681:Cyp4a30b UTSW 4 115,314,942 (GRCm39) missense possibly damaging 0.93
R8735:Cyp4a30b UTSW 4 115,309,976 (GRCm39) nonsense probably null
R8816:Cyp4a30b UTSW 4 115,309,834 (GRCm39) missense probably benign 0.23
R8845:Cyp4a30b UTSW 4 115,315,493 (GRCm39) missense probably benign 0.04
R8917:Cyp4a30b UTSW 4 115,311,662 (GRCm39) nonsense probably null
R9622:Cyp4a30b UTSW 4 115,328,162 (GRCm39) missense probably damaging 1.00
R9792:Cyp4a30b UTSW 4 115,316,167 (GRCm39) missense probably benign 0.01
R9793:Cyp4a30b UTSW 4 115,316,167 (GRCm39) missense probably benign 0.01
Z1176:Cyp4a30b UTSW 4 115,328,156 (GRCm39) missense possibly damaging 0.61
Predicted Primers PCR Primer
(F):5'- CCTTGTCTTCTTACAGGAGAGG -3'
(R):5'- AATGACCTTTAAGTAGAGGGTAGC -3'

Sequencing Primer
(F):5'- CCTGTGACTCTTCCATATGG -3'
(R):5'- CCAACATCCTGAGAAATGAG -3'
Posted On 2022-10-06