Incidental Mutation 'IGL02480:Cyp3a44'
ID 295139
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 # IGL02480
Quality Score
Status
Chromosome 5
Chromosomal Location 145710793-145742684 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 145731715 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 144 (E144K)
Ref Sequence ENSEMBL: ENSMUSP00000069932 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067479]
AlphaFold Q9EQW4
Predicted Effect possibly damaging
Transcript: ENSMUST00000067479
AA Change: E144K

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000069932
Gene: ENSMUSG00000054417
AA Change: E144K

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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadac T A 3: 59,946,908 (GRCm39) I202K probably benign Het
Abcc1 T A 16: 14,221,869 (GRCm39) S169T possibly damaging Het
Acsm1 A T 7: 119,255,265 (GRCm39) I389F possibly damaging Het
Actn2 T A 13: 12,291,364 (GRCm39) Q680L probably benign Het
Ankrd13d G A 19: 4,321,491 (GRCm39) P404S possibly damaging Het
Ankrd46 G T 15: 36,484,142 (GRCm39) probably benign Het
Arfip1 A G 3: 84,455,239 (GRCm39) probably null Het
Asb15 A T 6: 24,570,745 (GRCm39) L574F probably damaging Het
Cym T C 3: 107,120,838 (GRCm39) I256V probably benign Het
Efna1 T C 3: 89,179,902 (GRCm39) E109G probably benign Het
Eif4a3l1 A T 6: 136,306,213 (GRCm39) I225F probably damaging Het
Eml1 C A 12: 108,487,955 (GRCm39) Q556K probably benign Het
Eml5 T G 12: 98,842,502 (GRCm39) T199P probably damaging Het
Entr1 T A 2: 26,275,132 (GRCm39) H342L probably damaging Het
Etl4 A C 2: 20,793,335 (GRCm39) M687L probably damaging Het
Fam199x C A X: 135,950,788 (GRCm39) T56K probably damaging Het
Fat4 A G 3: 39,064,579 (GRCm39) D4845G probably damaging Het
Gm4987 T A X: 45,544,973 (GRCm39) noncoding transcript Het
Gm5828 C A 1: 16,839,766 (GRCm39) noncoding transcript Het
Gm5930 T C 14: 44,575,087 (GRCm39) Y68C probably benign Het
Gucy1a1 C T 3: 82,005,040 (GRCm39) V582M probably damaging Het
Haghl G T 17: 26,002,033 (GRCm39) A220E probably damaging Het
Hsf5 G A 11: 87,522,483 (GRCm39) A359T possibly damaging Het
Igsf9 A T 1: 172,312,345 (GRCm39) probably benign Het
Igsf9 C A 1: 172,324,480 (GRCm39) D799E possibly damaging Het
Itga1 A T 13: 115,124,184 (GRCm39) F703I probably damaging Het
Kcna6 G A 6: 126,715,531 (GRCm39) P453S probably damaging Het
Lzic A T 4: 149,571,260 (GRCm39) N15I probably damaging Het
Or1j10 T G 2: 36,267,504 (GRCm39) C239G probably damaging Het
Or2n1d A G 17: 38,646,314 (GRCm39) R89G probably benign Het
Or4f54 A G 2: 111,122,858 (GRCm39) I82V possibly damaging Het
Or5p78 C T 7: 108,212,018 (GRCm39) T168I probably benign Het
P4ha1 T C 10: 59,179,574 (GRCm39) Y141H probably damaging Het
Paxx G A 2: 25,350,024 (GRCm39) P164S probably damaging Het
Pgd A G 4: 149,241,075 (GRCm39) V278A probably damaging Het
Pik3c2g A G 6: 139,798,526 (GRCm39) Y352C probably damaging Het
Pkd2l2 A G 18: 34,571,843 (GRCm39) N614S possibly damaging Het
Poli T C 18: 70,658,477 (GRCm39) T86A probably benign Het
Psd2 G A 18: 36,139,136 (GRCm39) R528H probably damaging Het
Ptchd4 G T 17: 42,813,431 (GRCm39) C444F probably benign Het
Ptpra C A 2: 130,346,181 (GRCm39) T114K probably benign Het
Rho A G 6: 115,912,505 (GRCm39) N123S probably benign Het
Setd5 A G 6: 113,120,770 (GRCm39) D993G probably damaging Het
Slc1a2 T C 2: 102,566,411 (GRCm39) L38P probably damaging Het
Slc2a7 G A 4: 150,244,569 (GRCm39) V346M possibly damaging Het
Slc43a1 A G 2: 84,669,928 (GRCm39) I7V probably benign Het
Spag9 C T 11: 93,999,413 (GRCm39) Q691* probably null Het
Timmdc1 A T 16: 38,342,763 (GRCm39) V45D probably null Het
Tlr8 T A X: 166,027,179 (GRCm39) H557L 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
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
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