Incidental Mutation 'R6511:Cyp4a30b'
ID 519905
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 044639-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.083) question?
Stock # R6511 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 115309801-115328259 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 115313905 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 162 (D162V)
Ref Sequence ENSEMBL: ENSMUSP00000140857 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000119958]
AlphaFold A0A087WS15
Predicted Effect noncoding transcript
Transcript: ENSMUST00000116278
Predicted Effect probably damaging
Transcript: ENSMUST00000119958
AA Change: D162V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000140857
Gene: ENSMUSG00000084346
AA Change: D162V

DomainStartEndE-ValueType
transmembrane domain 10 32 N/A INTRINSIC
Pfam:p450 52 503 1.4e-119 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.5%
Validation Efficiency 100% (39/39)
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 G A 16: 20,195,344 (GRCm39) H718Y probably damaging Het
Abcc8 G A 7: 45,800,285 (GRCm39) T499I possibly damaging Het
Azin2 C A 4: 128,828,259 (GRCm39) R316L probably damaging Het
Cep85l C T 10: 53,154,188 (GRCm39) V702I probably benign Het
Cfap69 A T 5: 5,667,220 (GRCm39) C442S probably damaging Het
Commd3 G A 2: 18,679,650 (GRCm39) G148R probably benign Het
Cyfip2 T C 11: 46,087,135 (GRCm39) T1252A probably benign Het
Exoc3l G T 8: 106,019,887 (GRCm39) T346K probably benign Het
Gas8 T C 8: 124,250,896 (GRCm39) V123A probably benign Het
Hmcn2 T G 2: 31,246,354 (GRCm39) D774E possibly damaging Het
Itga1 G T 13: 115,129,037 (GRCm39) S540R probably damaging Het
Itpr2 T C 6: 146,231,225 (GRCm39) N1145S probably damaging Het
Kcnc2 C T 10: 112,297,972 (GRCm39) probably benign Het
Lrp5 G A 19: 3,702,296 (GRCm39) R174W probably damaging Het
Lrrn4 T G 2: 132,712,246 (GRCm39) S526R probably benign Het
Map3k6 G A 4: 132,975,389 (GRCm39) R708H probably damaging Het
Mefv T C 16: 3,533,810 (GRCm39) T154A probably benign Het
Mrtfb T A 16: 13,197,714 (GRCm39) S66R probably damaging Het
Mtif2 G T 11: 29,486,949 (GRCm39) A320S possibly damaging Het
Nos2 A G 11: 78,846,290 (GRCm39) probably null Het
Or4k15b A G 14: 50,272,266 (GRCm39) L198P probably damaging Het
Or9g4 A G 2: 85,505,184 (GRCm39) S104P possibly damaging Het
Pip5k1c T C 10: 81,146,651 (GRCm39) Y44H probably damaging Het
Ppp1r13b T C 12: 111,798,001 (GRCm39) E972G probably damaging Het
Prdm12 T C 2: 31,530,321 (GRCm39) S71P probably damaging Het
Prkag2 G T 5: 25,305,286 (GRCm39) probably benign Het
Ptprb T C 10: 116,182,725 (GRCm39) L1467P probably damaging Het
Rnf43 G A 11: 87,622,989 (GRCm39) V697I probably benign Het
Rpl7 C A 1: 16,173,889 (GRCm39) A12S probably benign Het
Slc25a54 T G 3: 109,001,572 (GRCm39) I120S possibly damaging Het
Slc41a2 T C 10: 83,119,652 (GRCm39) H370R probably damaging Het
Speer1d A G 5: 11,307,275 (GRCm39) Y51C probably benign Het
Sv2c C T 13: 96,185,033 (GRCm39) V215I probably benign Het
Synpo2l T C 14: 20,712,518 (GRCm39) E34G probably damaging Het
Tubgcp5 T A 7: 55,467,140 (GRCm39) C703* probably null Het
Vmn1r158 T C 7: 22,490,116 (GRCm39) K31R probably benign Het
Vmn2r106 C T 17: 20,488,725 (GRCm39) C558Y probably damaging Het
Zfp2 A T 11: 50,791,234 (GRCm39) C270S probably damaging 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
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
R9672:Cyp4a30b UTSW 4 115,316,576 (GRCm39) missense probably benign 0.16
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'- AGAAATTCTGCCTTCCTCAGAG -3'
(R):5'- TCATATGCACCTTGAGGGAGG -3'

Sequencing Primer
(F):5'- GTTCCTTCAAAATCATCCAAAGGGTC -3'
(R):5'- CACCTTGAGGGAGGAAGGATAG -3'
Posted On 2018-06-06