Incidental Mutation 'IGL02327:Cyp2a22'
ID288508
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cyp2a22
Ensembl Gene ENSMUSG00000091867
Gene Namecytochrome P450, family 2, subfamily a, polypeptide 22
SynonymsEG233005
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.185) question?
Stock #IGL02327
Quality Score
Status
Chromosome7
Chromosomal Location26931631-26939384 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 26934781 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 316 (M316K)
Ref Sequence ENSEMBL: ENSMUSP00000128030 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000170227]
Predicted Effect probably damaging
Transcript: ENSMUST00000170227
AA Change: M316K

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000128030
Gene: ENSMUSG00000091867
AA Change: M316K

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
Pfam:p450 33 489 7.4e-148 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206638
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206957
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd9 A T 12: 110,977,415 C29S probably damaging Het
Ccdc66 G A 14: 27,493,386 A399V probably damaging Het
Ccl12 A G 11: 82,103,122 I68M possibly damaging Het
Cd244 T C 1: 171,559,341 V6A probably benign Het
Cfap97 T A 8: 46,170,142 S190T probably damaging Het
Chic2 G T 5: 75,027,080 C106* probably null Het
Ctdsp2 G A 10: 126,996,382 D237N probably benign Het
Cyp3a25 A G 5: 145,986,921 F304S possibly damaging Het
Ddc A T 11: 11,863,739 V209D probably damaging Het
Dhx16 A G 17: 35,883,825 K446R probably benign Het
Fgd3 T C 13: 49,285,798 K241E probably damaging Het
Hps1 G T 19: 42,756,345 probably benign Het
Inpp4b C T 8: 82,041,962 T700I probably benign Het
Kremen2 T A 17: 23,743,569 M157L probably benign Het
Lrwd1 T C 5: 136,123,464 Y582C probably damaging Het
Macf1 T A 4: 123,471,730 R1514S probably benign Het
Mex3c T A 18: 73,590,710 C625S probably damaging Het
Mical1 G A 10: 41,486,664 E932K possibly damaging Het
Ncf2 A T 1: 152,816,993 Y87F possibly damaging Het
Neo1 T C 9: 58,903,088 T1027A probably benign Het
Nfkbib G T 7: 28,759,143 P347Q probably benign Het
Nr1h2 G A 7: 44,551,500 probably benign Het
Olfr1158 A T 2: 87,990,257 I49F probably damaging Het
Olfr224 T A 11: 58,566,935 R137W probably damaging Het
Olfr384 A T 11: 73,603,155 T192S probably damaging Het
Oxct1 A G 15: 4,037,089 probably null Het
Pak1ip1 T G 13: 41,012,417 N308K probably benign Het
Prpf38a T C 4: 108,568,410 R224G unknown Het
Scfd1 T C 12: 51,389,317 V83A possibly damaging Het
Tmem131 C T 1: 36,799,022 G1545D probably damaging Het
Trav13n-4 A T 14: 53,364,110 probably benign Het
Ttc3 A G 16: 94,448,108 D1155G probably damaging Het
Unc80 G A 1: 66,641,673 V2143I probably benign Het
Vmn2r16 T C 5: 109,340,121 Y287H probably benign Het
Vmn2r59 A G 7: 42,012,231 V720A probably benign Het
Wars T A 12: 108,866,301 probably null Het
Wdcp A G 12: 4,851,115 K324E possibly damaging Het
Wdfy3 A T 5: 101,888,192 L2105H probably damaging Het
Xirp2 A T 2: 67,510,100 D895V probably damaging Het
Zscan10 A T 17: 23,607,572 probably benign Het
Other mutations in Cyp2a22
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00156:Cyp2a22 APN 7 26937738 missense probably benign 0.09
IGL01111:Cyp2a22 APN 7 26936458 missense probably damaging 1.00
IGL01388:Cyp2a22 APN 7 26937792 missense probably benign 0.02
IGL01449:Cyp2a22 APN 7 26933553 missense probably benign 0.01
IGL01642:Cyp2a22 APN 7 26938759 missense possibly damaging 0.81
IGL02253:Cyp2a22 APN 7 26938237 splice site probably benign
IGL02673:Cyp2a22 APN 7 26938100 missense probably benign 0.00
IGL02813:Cyp2a22 APN 7 26936434 missense probably benign 0.19
IGL02896:Cyp2a22 APN 7 26936461 missense probably damaging 0.98
IGL03193:Cyp2a22 APN 7 26936421 missense probably benign 0.00
IGL03350:Cyp2a22 APN 7 26934854 missense possibly damaging 0.88
R1648:Cyp2a22 UTSW 7 26932368 missense probably damaging 0.98
R1679:Cyp2a22 UTSW 7 26936311 nonsense probably null
R1733:Cyp2a22 UTSW 7 26934762 missense possibly damaging 0.78
R2001:Cyp2a22 UTSW 7 26934772 missense probably damaging 1.00
R2858:Cyp2a22 UTSW 7 26934262 missense probably damaging 0.99
R3054:Cyp2a22 UTSW 7 26938829 missense probably damaging 1.00
R4528:Cyp2a22 UTSW 7 26934769 missense possibly damaging 0.95
R4623:Cyp2a22 UTSW 7 26933491 missense probably damaging 1.00
R4669:Cyp2a22 UTSW 7 26937855 missense possibly damaging 0.88
R4690:Cyp2a22 UTSW 7 26939209 nonsense probably null
R4840:Cyp2a22 UTSW 7 26932524 missense probably benign 0.13
R4915:Cyp2a22 UTSW 7 26937770 missense probably benign 0.33
R5071:Cyp2a22 UTSW 7 26932481 missense probably benign 0.01
R5072:Cyp2a22 UTSW 7 26932481 missense probably benign 0.01
R5074:Cyp2a22 UTSW 7 26932481 missense probably benign 0.01
R5147:Cyp2a22 UTSW 7 26936325 missense probably damaging 1.00
R5363:Cyp2a22 UTSW 7 26936433 missense probably damaging 0.99
R5705:Cyp2a22 UTSW 7 26939215 missense probably benign 0.05
R6014:Cyp2a22 UTSW 7 26939180 splice site probably null
R6042:Cyp2a22 UTSW 7 26934239 missense probably damaging 1.00
R6253:Cyp2a22 UTSW 7 26934232 missense probably benign 0.18
R6757:Cyp2a22 UTSW 7 26939204 missense probably benign 0.00
Posted On2015-04-16