Incidental Mutation 'IGL01738:Cyp3a44'
ID105752
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cyp3a44
Ensembl Gene ENSMUSG00000054417
Gene Namecytochrome P450, family 3, subfamily a, polypeptide 44
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.132) question?
Stock #IGL01738
Quality Score
Status
Chromosome5
Chromosomal Location145773983-145805874 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 145794935 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 134 (S134P)
Ref Sequence ENSEMBL: ENSMUSP00000069932 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067479]
Predicted Effect probably damaging
Transcript: ENSMUST00000067479
AA Change: S134P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000069932
Gene: ENSMUSG00000054417
AA Change: S134P

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933405L10Rik A T 8: 105,710,036 D288V probably damaging Het
Agtr1a G A 13: 30,381,038 V29I probably benign Het
Akap6 G T 12: 52,886,817 C364F probably damaging Het
Calcrl T G 2: 84,370,449 M84L probably benign Het
Cep128 C A 12: 91,230,842 G402C probably damaging Het
Cfap43 A G 19: 47,797,185 L422P probably damaging Het
Cnbd2 C A 2: 156,375,617 probably benign Het
Col27a1 A G 4: 63,263,779 probably benign Het
Dync2h1 A C 9: 7,114,922 L179R possibly damaging Het
Ell T A 8: 70,581,681 probably null Het
Gfm1 A G 3: 67,456,661 E490G probably benign Het
Glt1d1 T G 5: 127,632,355 probably benign Het
Gm10267 A T 18: 44,159,275 I10K possibly damaging Het
Htra4 A G 8: 25,025,711 V437A probably damaging Het
Ighv1-69 T C 12: 115,623,441 Q24R possibly damaging Het
Igkv14-111 G A 6: 68,256,459 probably benign Het
Ipcef1 A T 10: 6,890,575 I374N probably damaging Het
Iqgap1 T C 7: 80,723,900 D1447G possibly damaging Het
Mast4 A G 13: 102,737,241 F1681S probably damaging Het
Mmp3 A T 9: 7,446,946 N42I possibly damaging Het
Mybpc1 G T 10: 88,570,645 F126L probably damaging Het
Myo1e A G 9: 70,359,370 K631E probably damaging Het
Olfr902 A C 9: 38,449,646 Y258S probably damaging Het
Pcsk5 T A 19: 17,433,780 probably benign Het
Serpina3b T G 12: 104,130,832 L124R probably damaging Het
Srgap2 T C 1: 131,296,426 I95V probably benign Het
Sstr5 A T 17: 25,491,610 I215N probably damaging Het
Top3b G A 16: 16,880,604 V104M probably benign Het
Tspan8 G A 10: 115,817,665 probably null Het
Vmn2r102 A G 17: 19,677,758 Y345C probably damaging Het
Vmn2r17 G A 5: 109,429,498 G472S probably damaging Het
Zmpste24 A T 4: 121,061,111 L438Q probably damaging Het
Other mutations in Cyp3a44
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00813:Cyp3a44 APN 5 145774347 makesense probably null
IGL00972:Cyp3a44 APN 5 145779724 missense possibly damaging 0.84
IGL01062:Cyp3a44 APN 5 145794339 missense possibly damaging 0.88
IGL01072:Cyp3a44 APN 5 145791628 missense probably benign 0.01
IGL01515:Cyp3a44 APN 5 145799418 nonsense probably null
IGL01869:Cyp3a44 APN 5 145790686 missense probably damaging 0.99
IGL02269:Cyp3a44 APN 5 145805737 missense probably benign 0.23
IGL02284:Cyp3a44 APN 5 145788369 missense possibly damaging 0.91
IGL02479:Cyp3a44 APN 5 145790667 missense probably benign 0.01
IGL02480:Cyp3a44 APN 5 145794905 missense possibly damaging 0.93
IGL02506:Cyp3a44 APN 5 145799388 missense probably damaging 1.00
IGL02957:Cyp3a44 APN 5 145779662 nonsense probably null
IGL02978:Cyp3a44 APN 5 145788398 missense probably damaging 0.98
R0427:Cyp3a44 UTSW 5 145779602 missense possibly damaging 0.85
R1240:Cyp3a44 UTSW 5 145774440 missense probably benign 0.02
R1247:Cyp3a44 UTSW 5 145791667 missense probably damaging 1.00
R1657:Cyp3a44 UTSW 5 145779743 missense probably damaging 0.99
R2096:Cyp3a44 UTSW 5 145788405 missense probably damaging 1.00
R2156:Cyp3a44 UTSW 5 145803670 nonsense probably null
R2412:Cyp3a44 UTSW 5 145779579 nonsense probably null
R4817:Cyp3a44 UTSW 5 145803755 missense possibly damaging 0.64
R4884:Cyp3a44 UTSW 5 145777982 missense probably damaging 1.00
R5266:Cyp3a44 UTSW 5 145794397 missense possibly damaging 0.66
R5301:Cyp3a44 UTSW 5 145788516 missense probably damaging 0.99
R5463:Cyp3a44 UTSW 5 145803744 missense probably benign 0.00
R5625:Cyp3a44 UTSW 5 145779566 missense possibly damaging 0.74
R5635:Cyp3a44 UTSW 5 145801314 missense possibly damaging 0.90
R5924:Cyp3a44 UTSW 5 145794327 missense possibly damaging 0.54
R5964:Cyp3a44 UTSW 5 145788467 missense possibly damaging 0.95
R5988:Cyp3a44 UTSW 5 145794918 missense probably damaging 1.00
R6011:Cyp3a44 UTSW 5 145801274 critical splice donor site probably null
R6032:Cyp3a44 UTSW 5 145777946 missense probably damaging 1.00
R6032:Cyp3a44 UTSW 5 145777946 missense probably damaging 1.00
R6413:Cyp3a44 UTSW 5 145794444 missense probably damaging 1.00
R6579:Cyp3a44 UTSW 5 145790706 missense probably damaging 0.99
R6587:Cyp3a44 UTSW 5 145805759 missense probably benign 0.23
R6709:Cyp3a44 UTSW 5 145778092 splice site probably null
R6727:Cyp3a44 UTSW 5 145794971 nonsense probably null
R6825:Cyp3a44 UTSW 5 145779586 missense probably damaging 1.00
R7142:Cyp3a44 UTSW 5 145777961 missense probably benign 0.24
R7352:Cyp3a44 UTSW 5 145803688 missense probably benign 0.01
R7921:Cyp3a44 UTSW 5 145791688 missense probably damaging 1.00
R7962:Cyp3a44 UTSW 5 145801325 missense probably benign
R8099:Cyp3a44 UTSW 5 145788402 missense probably benign 0.12
R8240:Cyp3a44 UTSW 5 145788447 missense probably damaging 0.99
Z1176:Cyp3a44 UTSW 5 145791664 missense probably benign 0.03
Posted On2014-01-21