Incidental Mutation 'IGL02993:Cyp2d40'
ID 407013
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cyp2d40
Ensembl Gene ENSMUSG00000068083
Gene Name cytochrome P450, family 2, subfamily d, polypeptide 40
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.112) question?
Stock # IGL02993
Quality Score
Status
Chromosome 15
Chromosomal Location 82759833-82764183 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to A at 82761521 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 94 (K94N)
Ref Sequence ENSEMBL: ENSMUSP00000060524 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055721]
AlphaFold Q6P8N9
Predicted Effect probably benign
Transcript: ENSMUST00000055721
AA Change: K94N

PolyPhen 2 Score 0.193 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000060524
Gene: ENSMUSG00000068083
AA Change: K94N

DomainStartEndE-ValueType
transmembrane domain 4 26 N/A INTRINSIC
Pfam:p450 59 335 1.3e-94 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230433
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700022I11Rik T C 4: 42,971,719 Y351H probably damaging Het
5830411N06Rik A G 7: 140,296,573 T537A probably benign Het
Abcd3 A C 3: 121,774,010 I434S probably benign Het
Actr2 C T 11: 20,072,514 R319Q probably damaging Het
Atp13a5 G T 16: 29,293,504 Y606* probably null Het
Baiap3 C T 17: 25,250,082 probably null Het
Cers2 A G 3: 95,320,085 Y8C probably benign Het
Ces1g T A 8: 93,317,079 M411L probably benign Het
Chd6 A G 2: 161,052,384 probably benign Het
Ddx51 T C 5: 110,655,621 V323A possibly damaging Het
Dock1 G A 7: 134,744,298 V190I probably benign Het
Evc2 A G 5: 37,419,157 T1042A probably benign Het
Fat4 T A 3: 38,957,155 S2135T probably damaging Het
Gpat2 T C 2: 127,427,566 F46S probably damaging Het
Klhl38 T A 15: 58,322,455 K293* probably null Het
Map4k4 T C 1: 40,014,188 I916T probably damaging Het
Nrap T A 19: 56,345,533 K964M probably damaging Het
Osbpl5 T C 7: 143,699,334 probably null Het
Perm1 A G 4: 156,217,779 Q260R probably benign Het
Ralgapb T A 2: 158,437,394 N133K possibly damaging Het
Slfn9 T C 11: 82,981,196 S905G probably benign Het
Ssh2 C T 11: 77,453,544 T785I probably damaging Het
Stk16 C A 1: 75,213,004 Q69K probably damaging Het
Stk36 T C 1: 74,622,287 L491P probably benign Het
Stxbp2 A T 8: 3,641,971 I538F probably benign Het
Tcp11 T C 17: 28,070,516 N194D probably damaging Het
Trio C A 15: 27,830,239 probably benign Het
Ugt2b1 A G 5: 86,921,991 V297A possibly damaging Het
Ugt2b5 T G 5: 87,137,232 H282P probably damaging Het
Usp53 A G 3: 122,933,843 M1030T probably damaging Het
Vmn1r234 T A 17: 21,229,703 I293N probably damaging Het
Vmn2r57 T A 7: 41,428,074 T223S probably benign Het
Wdr20 G T 12: 110,794,308 E543* probably null Het
Zbtb25 T A 12: 76,349,417 N344Y probably damaging Het
Zcchc2 T C 1: 106,030,168 F790L probably damaging Het
Other mutations in Cyp2d40
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01134:Cyp2d40 APN 15 82760901 missense unknown
IGL01313:Cyp2d40 APN 15 82761277 missense unknown
IGL01714:Cyp2d40 APN 15 82761240 missense possibly damaging 0.55
IGL02324:Cyp2d40 APN 15 82760948 splice site probably benign
IGL03162:Cyp2d40 APN 15 82760042 missense unknown
R0070:Cyp2d40 UTSW 15 82760774 missense unknown
R0499:Cyp2d40 UTSW 15 82761217 missense probably benign 0.11
R0885:Cyp2d40 UTSW 15 82760915 missense unknown
R1587:Cyp2d40 UTSW 15 82761133 splice site probably null
R1613:Cyp2d40 UTSW 15 82761439 missense unknown
R4773:Cyp2d40 UTSW 15 82761562 missense possibly damaging 0.73
R5047:Cyp2d40 UTSW 15 82760259 missense unknown
R5604:Cyp2d40 UTSW 15 82764055 missense probably damaging 0.99
R6087:Cyp2d40 UTSW 15 82764004 missense possibly damaging 0.73
R6334:Cyp2d40 UTSW 15 82761552 missense probably benign 0.03
R6841:Cyp2d40 UTSW 15 82761486 missense probably benign 0.03
R7017:Cyp2d40 UTSW 15 82760033 missense unknown
R7045:Cyp2d40 UTSW 15 82761562 missense probably benign 0.01
R7565:Cyp2d40 UTSW 15 82760774 missense unknown
R7934:Cyp2d40 UTSW 15 82764011 missense probably damaging 0.99
R8896:Cyp2d40 UTSW 15 82760253 missense unknown
R9378:Cyp2d40 UTSW 15 82761601 missense possibly damaging 0.86
R9522:Cyp2d40 UTSW 15 82764073 missense possibly damaging 0.50
R9558:Cyp2d40 UTSW 15 82761466 missense unknown
Posted On 2016-08-02