Incidental Mutation 'IGL02480:Cyp3a44'
ID295139
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: 0.214) question?
Stock #IGL02480
Quality Score
Status
Chromosome5
Chromosomal Location145773983-145805874 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 145794905 bp
ZygosityHeterozygous
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]
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: 60,039,487 I202K probably benign Het
Abcc1 T A 16: 14,404,005 S169T possibly damaging Het
Acsm1 A T 7: 119,656,042 I389F possibly damaging Het
Actn2 T A 13: 12,276,478 Q680L probably benign Het
Ankrd13d G A 19: 4,271,463 P404S possibly damaging Het
Ankrd46 G T 15: 36,483,996 probably benign Het
Arfip1 A G 3: 84,547,932 probably null Het
Asb15 A T 6: 24,570,746 L574F probably damaging Het
Cym T C 3: 107,213,522 I256V probably benign Het
Efna1 T C 3: 89,272,595 E109G probably benign Het
Eml1 C A 12: 108,521,696 Q556K probably benign Het
Eml5 T G 12: 98,876,243 T199P probably damaging Het
Etl4 A C 2: 20,788,524 M687L probably damaging Het
Fam199x C A X: 137,050,039 T56K probably damaging Het
Fat4 A G 3: 39,010,430 D4845G probably damaging Het
Gm4987 T A X: 46,456,096 noncoding transcript Het
Gm5828 C A 1: 16,769,542 noncoding transcript Het
Gm5930 T C 14: 44,337,630 Y68C probably benign Het
Gm8994 A T 6: 136,329,215 I225F probably damaging Het
Gucy1a1 C T 3: 82,097,733 V582M probably damaging Het
Haghl G T 17: 25,783,059 A220E probably damaging Het
Hsf5 G A 11: 87,631,657 A359T possibly damaging Het
Igsf9 C A 1: 172,496,913 D799E possibly damaging Het
Igsf9 A T 1: 172,484,778 probably benign Het
Itga1 A T 13: 114,987,648 F703I probably damaging Het
Kcna6 G A 6: 126,738,568 P453S probably damaging Het
Lzic A T 4: 149,486,803 N15I probably damaging Het
Olfr1278 A G 2: 111,292,513 I82V possibly damaging Het
Olfr136 A G 17: 38,335,423 R89G probably benign Het
Olfr338 T G 2: 36,377,492 C239G probably damaging Het
Olfr506 C T 7: 108,612,811 T168I probably benign Het
P4ha1 T C 10: 59,343,752 Y141H probably damaging Het
Paxx G A 2: 25,460,012 P164S probably damaging Het
Pgd A G 4: 149,156,618 V278A probably damaging Het
Pik3c2g A G 6: 139,852,800 Y352C probably damaging Het
Pkd2l2 A G 18: 34,438,790 N614S possibly damaging Het
Poli T C 18: 70,525,406 T86A probably benign Het
Psd2 G A 18: 36,006,083 R528H probably damaging Het
Ptchd4 G T 17: 42,502,540 C444F probably benign Het
Ptpra C A 2: 130,504,261 T114K probably benign Het
Rho A G 6: 115,935,544 N123S probably benign Het
Sdccag3 T A 2: 26,385,120 H342L probably damaging Het
Setd5 A G 6: 113,143,809 D993G probably damaging Het
Slc1a2 T C 2: 102,736,066 L38P probably damaging Het
Slc2a7 G A 4: 150,160,112 V346M possibly damaging Het
Slc43a1 A G 2: 84,839,584 I7V probably benign Het
Spag9 C T 11: 94,108,587 Q691* probably null Het
Timmdc1 A T 16: 38,522,401 V45D probably null Het
Tlr8 T A X: 167,244,183 H557L 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
IGL01738:Cyp3a44 APN 5 145794935 missense probably damaging 1.00
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
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
Posted On2015-04-16