Incidental Mutation 'IGL01521:Cyp2c38'
ID 90518
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cyp2c38
Ensembl Gene ENSMUSG00000032808
Gene Name cytochrome P450, family 2, subfamily c, polypeptide 38
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.080) question?
Stock # IGL01521
Quality Score
Status
Chromosome 19
Chromosomal Location 39389556-39463075 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 39460670 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 80 (Y80H)
Ref Sequence ENSEMBL: ENSMUSP00000044722 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035488]
AlphaFold P56655
Predicted Effect probably damaging
Transcript: ENSMUST00000035488
AA Change: Y80H

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000044722
Gene: ENSMUSG00000032808
AA Change: Y80H

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:p450 30 487 1.5e-161 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars A T 8: 111,043,787 I406F possibly damaging Het
Adgrb2 A G 4: 129,992,292 E75G probably damaging Het
Als2cr12 T G 1: 58,670,394 K201Q probably damaging Het
Angptl2 T C 2: 33,246,203 Y467H probably damaging Het
Arap1 G T 7: 101,400,605 probably null Het
Arfgap1 G A 2: 180,971,578 C22Y probably damaging Het
Artn G A 4: 117,927,287 P25S probably damaging Het
Bicra G T 7: 15,989,188 Q135K probably benign Het
Clpx T C 9: 65,318,744 V367A probably damaging Het
Clstn3 C T 6: 124,458,031 W308* probably null Het
Cpb2 T A 14: 75,257,631 V67D probably damaging Het
Dbt A G 3: 116,533,383 D127G probably benign Het
Fhod1 G A 8: 105,330,423 A973V probably benign Het
Focad A T 4: 88,410,690 *1713C probably null Het
Gemin5 A T 11: 58,134,918 probably benign Het
Gpr22 C T 12: 31,708,710 probably benign Het
Ikbkap T A 4: 56,771,059 E961D probably benign Het
Kif23 T A 9: 61,919,900 T890S probably damaging Het
Kmt5b T A 19: 3,786,618 S52T possibly damaging Het
Lipo1 A T 19: 33,785,683 D53E probably damaging Het
Lrrc14b G A 13: 74,363,572 R130C probably damaging Het
Myt1 T A 2: 181,825,911 I1046K probably damaging Het
Napsa A T 7: 44,586,637 I367F probably damaging Het
Olfr1107 C T 2: 87,071,733 V134I probably benign Het
Olfr923 A T 9: 38,827,889 Y66F probably damaging Het
Rgcc T G 14: 79,300,745 S69R probably damaging Het
Rin3 T A 12: 102,369,048 I326N probably benign Het
Sipa1 C A 19: 5,660,978 M1I probably null Het
Sirpb1a T A 3: 15,410,501 M325L probably benign Het
Sult1a1 C A 7: 126,675,279 V71F possibly damaging Het
Tgds G T 14: 118,113,094 P349Q probably damaging Het
Tmem63c T A 12: 87,069,144 H186Q probably damaging Het
Trappc9 A G 15: 73,052,167 L242S probably damaging Het
Trip12 T A 1: 84,766,198 probably benign Het
Zfp451 T C 1: 33,777,331 probably null Het
Other mutations in Cyp2c38
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00508:Cyp2c38 APN 19 39460725 nonsense probably null
IGL01109:Cyp2c38 APN 19 39462885 critical splice donor site probably null
IGL02036:Cyp2c38 APN 19 39460316 missense probably null 0.97
IGL02187:Cyp2c38 APN 19 39436205 missense probably benign 0.14
IGL02954:Cyp2c38 APN 19 39391076 missense probably damaging 0.99
R0479:Cyp2c38 UTSW 19 39463005 missense probably damaging 0.99
R0684:Cyp2c38 UTSW 19 39391056 missense probably damaging 0.99
R0919:Cyp2c38 UTSW 19 39404669 missense probably benign 0.07
R1462:Cyp2c38 UTSW 19 39392188 missense probably damaging 0.96
R1462:Cyp2c38 UTSW 19 39392188 missense probably damaging 0.96
R1642:Cyp2c38 UTSW 19 39401709 missense probably damaging 1.00
R1715:Cyp2c38 UTSW 19 39404795 missense probably benign 0.25
R1900:Cyp2c38 UTSW 19 39438312 missense probably benign 0.40
R1954:Cyp2c38 UTSW 19 39404687 missense probably damaging 0.99
R1955:Cyp2c38 UTSW 19 39404687 missense probably damaging 0.99
R2860:Cyp2c38 UTSW 19 39460694 missense probably benign 0.01
R2861:Cyp2c38 UTSW 19 39460694 missense probably benign 0.01
R2862:Cyp2c38 UTSW 19 39460694 missense probably benign 0.01
R3084:Cyp2c38 UTSW 19 39401701 missense probably benign 0.00
R3727:Cyp2c38 UTSW 19 39392295 splice site probably benign
R4648:Cyp2c38 UTSW 19 39460688 missense probably benign 0.05
R5119:Cyp2c38 UTSW 19 39460621 missense probably damaging 1.00
R5636:Cyp2c38 UTSW 19 39438306 nonsense probably null
R5651:Cyp2c38 UTSW 19 39460712 missense probably damaging 0.99
R6263:Cyp2c38 UTSW 19 39392215 missense probably damaging 1.00
R6384:Cyp2c38 UTSW 19 39392293 splice site probably null
R6853:Cyp2c38 UTSW 19 39438304 missense probably benign 0.02
R6915:Cyp2c38 UTSW 19 39436068 missense probably damaging 0.99
R7201:Cyp2c38 UTSW 19 39401776 missense probably damaging 1.00
R7570:Cyp2c38 UTSW 19 39404743 missense possibly damaging 0.76
R7625:Cyp2c38 UTSW 19 39462924 missense possibly damaging 0.78
R7666:Cyp2c38 UTSW 19 39438242 missense possibly damaging 0.52
R8681:Cyp2c38 UTSW 19 39401691 missense possibly damaging 0.70
Posted On 2013-12-09