Incidental Mutation 'IGL02284:Cyp3a44'
ID 289935
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cyp3a44
Ensembl Gene ENSMUSG00000054417
Gene Name cytochrome P450, family 3, subfamily a, polypeptide 44
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.110) question?
Stock # IGL02284
Quality Score
Status
Chromosome 5
Chromosomal Location 145710793-145742684 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 145725179 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 341 (P341S)
Ref Sequence ENSEMBL: ENSMUSP00000069932 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067479]
AlphaFold Q9EQW4
Predicted Effect possibly damaging
Transcript: ENSMUST00000067479
AA Change: P341S

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000069932
Gene: ENSMUSG00000054417
AA Change: P341S

DomainStartEndE-ValueType
low complexity region 3 22 N/A INTRINSIC
Pfam:p450 38 494 2.4e-133 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 13 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cyp3a41a A G 5: 145,641,673 (GRCm39) probably benign Het
Dpp10 T C 1: 123,973,103 (GRCm39) probably benign Het
Fhdc1 G A 3: 84,352,042 (GRCm39) A1061V possibly damaging Het
Gp2 A G 7: 119,049,406 (GRCm39) L377P probably damaging Het
Hrob T C 11: 102,146,422 (GRCm39) C233R probably benign Het
Pttg1ip T C 10: 77,423,096 (GRCm39) Y11H probably benign Het
Rasa4 T A 5: 136,130,545 (GRCm39) probably null Het
Sbf1 G A 15: 89,189,281 (GRCm39) P480L probably damaging Het
Setd1b T A 5: 123,301,491 (GRCm39) F16L possibly damaging Het
Srsf3 G T 17: 29,255,431 (GRCm39) probably benign Het
Svep1 A T 4: 58,072,819 (GRCm39) F2163L probably benign Het
Vmn2r73 T A 7: 85,507,123 (GRCm39) I730F possibly damaging Het
Zfp579 A T 7: 4,997,167 (GRCm39) L248Q probably damaging Het
Other mutations in Cyp3a44
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00813:Cyp3a44 APN 5 145,711,157 (GRCm39) makesense probably null
IGL00972:Cyp3a44 APN 5 145,716,534 (GRCm39) missense possibly damaging 0.84
IGL01062:Cyp3a44 APN 5 145,731,149 (GRCm39) missense possibly damaging 0.88
IGL01072:Cyp3a44 APN 5 145,728,438 (GRCm39) missense probably benign 0.01
IGL01515:Cyp3a44 APN 5 145,736,228 (GRCm39) nonsense probably null
IGL01738:Cyp3a44 APN 5 145,731,745 (GRCm39) missense probably damaging 1.00
IGL01869:Cyp3a44 APN 5 145,727,496 (GRCm39) missense probably damaging 0.99
IGL02269:Cyp3a44 APN 5 145,742,547 (GRCm39) missense probably benign 0.23
IGL02479:Cyp3a44 APN 5 145,727,477 (GRCm39) missense probably benign 0.01
IGL02480:Cyp3a44 APN 5 145,731,715 (GRCm39) missense possibly damaging 0.93
IGL02506:Cyp3a44 APN 5 145,736,198 (GRCm39) missense probably damaging 1.00
IGL02957:Cyp3a44 APN 5 145,716,472 (GRCm39) nonsense probably null
IGL02978:Cyp3a44 APN 5 145,725,208 (GRCm39) missense probably damaging 0.98
R0427:Cyp3a44 UTSW 5 145,716,412 (GRCm39) missense possibly damaging 0.85
R1240:Cyp3a44 UTSW 5 145,711,250 (GRCm39) missense probably benign 0.02
R1247:Cyp3a44 UTSW 5 145,728,477 (GRCm39) missense probably damaging 1.00
R1657:Cyp3a44 UTSW 5 145,716,553 (GRCm39) missense probably damaging 0.99
R2096:Cyp3a44 UTSW 5 145,725,215 (GRCm39) missense probably damaging 1.00
R2156:Cyp3a44 UTSW 5 145,740,480 (GRCm39) nonsense probably null
R2412:Cyp3a44 UTSW 5 145,716,389 (GRCm39) nonsense probably null
R4817:Cyp3a44 UTSW 5 145,740,565 (GRCm39) missense possibly damaging 0.64
R4884:Cyp3a44 UTSW 5 145,714,792 (GRCm39) missense probably damaging 1.00
R5266:Cyp3a44 UTSW 5 145,731,207 (GRCm39) missense possibly damaging 0.66
R5301:Cyp3a44 UTSW 5 145,725,326 (GRCm39) missense probably damaging 0.99
R5463:Cyp3a44 UTSW 5 145,740,554 (GRCm39) missense probably benign 0.00
R5625:Cyp3a44 UTSW 5 145,716,376 (GRCm39) missense possibly damaging 0.74
R5635:Cyp3a44 UTSW 5 145,738,124 (GRCm39) missense possibly damaging 0.90
R5924:Cyp3a44 UTSW 5 145,731,137 (GRCm39) missense possibly damaging 0.54
R5964:Cyp3a44 UTSW 5 145,725,277 (GRCm39) missense possibly damaging 0.95
R5988:Cyp3a44 UTSW 5 145,731,728 (GRCm39) missense probably damaging 1.00
R6011:Cyp3a44 UTSW 5 145,738,084 (GRCm39) critical splice donor site probably null
R6032:Cyp3a44 UTSW 5 145,714,756 (GRCm39) missense probably damaging 1.00
R6032:Cyp3a44 UTSW 5 145,714,756 (GRCm39) missense probably damaging 1.00
R6413:Cyp3a44 UTSW 5 145,731,254 (GRCm39) missense probably damaging 1.00
R6579:Cyp3a44 UTSW 5 145,727,516 (GRCm39) missense probably damaging 0.99
R6587:Cyp3a44 UTSW 5 145,742,569 (GRCm39) missense probably benign 0.23
R6709:Cyp3a44 UTSW 5 145,714,902 (GRCm39) splice site probably null
R6727:Cyp3a44 UTSW 5 145,731,781 (GRCm39) nonsense probably null
R6825:Cyp3a44 UTSW 5 145,716,396 (GRCm39) missense probably damaging 1.00
R7142:Cyp3a44 UTSW 5 145,714,771 (GRCm39) missense probably benign 0.24
R7352:Cyp3a44 UTSW 5 145,740,498 (GRCm39) missense probably benign 0.01
R7921:Cyp3a44 UTSW 5 145,728,498 (GRCm39) missense probably damaging 1.00
R7962:Cyp3a44 UTSW 5 145,738,135 (GRCm39) missense probably benign
R8099:Cyp3a44 UTSW 5 145,725,212 (GRCm39) missense probably benign 0.12
R8240:Cyp3a44 UTSW 5 145,725,257 (GRCm39) missense probably damaging 0.99
R8836:Cyp3a44 UTSW 5 145,731,728 (GRCm39) missense probably damaging 1.00
R8923:Cyp3a44 UTSW 5 145,736,171 (GRCm39) missense probably damaging 1.00
R8934:Cyp3a44 UTSW 5 145,731,786 (GRCm39) missense possibly damaging 0.70
R9019:Cyp3a44 UTSW 5 145,727,519 (GRCm39) missense probably damaging 1.00
R9287:Cyp3a44 UTSW 5 145,725,202 (GRCm39) missense possibly damaging 0.93
R9293:Cyp3a44 UTSW 5 145,711,187 (GRCm39) missense probably benign 0.00
R9425:Cyp3a44 UTSW 5 145,740,548 (GRCm39) nonsense probably null
Z1176:Cyp3a44 UTSW 5 145,728,474 (GRCm39) missense probably benign 0.03
Posted On 2015-04-16