Incidental Mutation 'IGL00972:Cyp3a44'
ID 27522
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 # IGL00972
Quality Score
Status
Chromosome 5
Chromosomal Location 145710793-145742684 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 145716534 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 352 (M352K)
Ref Sequence ENSEMBL: ENSMUSP00000069932 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067479]
AlphaFold Q9EQW4
Predicted Effect possibly damaging
Transcript: ENSMUST00000067479
AA Change: M352K

PolyPhen 2 Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000069932
Gene: ENSMUSG00000054417
AA Change: M352K

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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3100002H09Rik A G 4: 124,504,484 (GRCm39) F23L probably damaging Het
Abcf3 A T 16: 20,370,434 (GRCm39) M320L probably damaging Het
Adam4 A T 12: 81,467,423 (GRCm39) H399Q probably damaging Het
Ank1 A G 8: 23,631,660 (GRCm39) K140E probably damaging Het
Atg2a G A 19: 6,304,629 (GRCm39) C1162Y probably damaging Het
Atp2b1 T A 10: 98,850,906 (GRCm39) I34N probably damaging Het
Bin1 A T 18: 32,557,887 (GRCm39) E260V probably benign Het
Birc2 G A 9: 7,833,716 (GRCm39) S255L probably benign Het
Cdc42bpa A G 1: 179,902,249 (GRCm39) Q502R probably benign Het
Cep170 A G 1: 176,563,262 (GRCm39) V1584A probably benign Het
Commd3 A T 2: 18,679,476 (GRCm39) R120S probably benign Het
Cyp39a1 A T 17: 44,012,434 (GRCm39) I304L probably benign Het
Dna2 T C 10: 62,786,602 (GRCm39) Y117H probably benign Het
Dnah6 A G 6: 73,060,140 (GRCm39) probably benign Het
Dsc1 G A 18: 20,221,420 (GRCm39) P685L probably benign Het
Efna5 T A 17: 62,920,374 (GRCm39) I168L possibly damaging Het
Ephx1 A G 1: 180,827,365 (GRCm39) F96S probably benign Het
Fig4 A T 10: 41,127,784 (GRCm39) I560K probably damaging Het
Fktn T A 4: 53,734,992 (GRCm39) I210N probably damaging Het
Fmnl1 T C 11: 103,071,781 (GRCm39) V96A probably damaging Het
Gabra1 T G 11: 42,024,453 (GRCm39) E407D probably benign Het
Gm5277 A T 3: 78,799,593 (GRCm39) noncoding transcript Het
H2-M10.5 A T 17: 37,084,227 (GRCm39) E63V possibly damaging Het
Icam5 T A 9: 20,945,993 (GRCm39) V275E probably damaging Het
Kel G A 6: 41,665,000 (GRCm39) A588V possibly damaging Het
Klra5 T A 6: 129,883,568 (GRCm39) E96D probably damaging Het
Limd1 C T 9: 123,309,141 (GRCm39) T280I probably benign Het
Mul1 C A 4: 138,165,628 (GRCm39) S95* probably null Het
Nlrp4a T C 7: 26,156,473 (GRCm39) S733P probably benign Het
Ntn1 T A 11: 68,104,098 (GRCm39) I517F possibly damaging Het
Ntrk3 T A 7: 77,897,070 (GRCm39) M656L possibly damaging Het
Oacyl T G 18: 65,858,572 (GRCm39) L226R possibly damaging Het
Or1ad6 A T 11: 50,859,946 (GRCm39) M34L probably benign Het
Or4f61 A T 2: 111,922,439 (GRCm39) N202K probably damaging Het
Or5ac17 A G 16: 59,036,829 (GRCm39) I49T probably damaging Het
Pibf1 T A 14: 99,416,885 (GRCm39) L486* probably null Het
Pla2g4c A G 7: 13,074,583 (GRCm39) Y253C probably benign Het
Rims3 C A 4: 120,748,583 (GRCm39) A268E probably benign Het
Rpl12 T C 2: 32,853,759 (GRCm39) I129T probably benign Het
Rsl1 A T 13: 67,329,862 (GRCm39) K103N probably benign Het
Scn11a A T 9: 119,623,004 (GRCm39) W612R probably benign Het
Sdk2 G A 11: 113,745,210 (GRCm39) T695M possibly damaging Het
Slc17a1 T A 13: 24,062,437 (GRCm39) probably benign Het
Stam A T 2: 14,120,779 (GRCm39) probably benign Het
Tacr3 T G 3: 134,638,116 (GRCm39) N424K probably benign Het
Tas1r2 C T 4: 139,387,347 (GRCm39) R240W probably damaging Het
Tle1 T C 4: 72,040,637 (GRCm39) R648G probably damaging Het
Tmem92 T C 11: 94,673,254 (GRCm39) D3G possibly damaging Het
Trip11 T C 12: 101,860,596 (GRCm39) I250V probably null Het
Tspan8 C T 10: 115,680,044 (GRCm39) probably benign Het
Vmn1r128 A G 7: 21,084,001 (GRCm39) E235G probably benign Het
Vmn1r220 A G 13: 23,368,558 (GRCm39) L46P probably damaging Het
Vmn2r9 T C 5: 108,996,903 (GRCm39) E122G probably benign Het
Zfp27 A T 7: 29,594,383 (GRCm39) N527K probably damaging Het
Other mutations in Cyp3a44
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00813:Cyp3a44 APN 5 145,711,157 (GRCm39) makesense probably null
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
IGL02284:Cyp3a44 APN 5 145,725,179 (GRCm39) missense possibly damaging 0.91
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 2013-04-17