Incidental Mutation 'IGL01118:Amdhd1'
ID52119
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Amdhd1
Ensembl Gene ENSMUSG00000015890
Gene Nameamidohydrolase domain containing 1
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01118
Quality Score
Status
Chromosome10
Chromosomal Location93523338-93540033 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 93531568 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 241 (D241E)
Ref Sequence ENSEMBL: ENSMUSP00000016034 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016034]
Predicted Effect probably benign
Transcript: ENSMUST00000016034
AA Change: D241E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000016034
Gene: ENSMUSG00000015890
AA Change: D241E

DomainStartEndE-ValueType
Pfam:Amidohydro_1 78 423 3.6e-21 PFAM
Pfam:Amidohydro_3 107 424 8.5e-17 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik C T 3: 124,401,409 R539Q probably benign Het
Abcb1a G A 5: 8,674,687 R40H probably damaging Het
Acan T A 7: 79,098,653 S1057R possibly damaging Het
Ahnak A T 19: 9,012,578 D3742V probably damaging Het
Cntn5 T C 9: 9,831,560 Y605C possibly damaging Het
Dgcr14 A T 16: 17,902,932 I350N probably damaging Het
Dnmt3l T C 10: 78,057,286 F299S probably damaging Het
G6pd2 A T 5: 61,810,063 M394L probably benign Het
Gm21319 T A 12: 87,773,442 N116Y probably damaging Het
Gm9839 A T 1: 32,519,843 M386K probably benign Het
Gtf2h3 T C 5: 124,595,668 V268A probably damaging Het
Hgs T C 11: 120,475,214 V195A probably damaging Het
Igkv3-2 A T 6: 70,698,994 S96C probably damaging Het
Mgl2 A G 11: 70,134,189 E12G probably benign Het
Mup11 A T 4: 60,659,780 F153I probably damaging Het
Nf1 T A 11: 79,546,986 C2057S probably damaging Het
Nkrf A G X: 36,888,757 F624S probably damaging Het
Noto T C 6: 85,424,210 S74P probably benign Het
Olfr1090 A G 2: 86,753,970 I256T probably benign Het
Pax8 T C 2: 24,442,932 probably benign Het
Psg28 A T 7: 18,428,092 V162D probably damaging Het
Rai1 T C 11: 60,187,438 F776S probably damaging Het
Taar8a A T 10: 24,076,861 H121L probably damaging Het
Tas2r113 A G 6: 132,893,315 N102S probably benign Het
Trpm1 A G 7: 64,235,824 T863A probably benign Het
Ttf2 A G 3: 100,967,097 probably benign Het
Wdr62 T C 7: 30,242,781 H611R probably damaging Het
Wdr90 A T 17: 25,854,687 L762Q probably damaging Het
Yeats2 T G 16: 20,186,304 S364A probably damaging Het
Zdhhc15 G T X: 104,598,106 Q82K probably benign Het
Other mutations in Amdhd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02336:Amdhd1 APN 10 93524429 missense probably benign 0.23
IGL02538:Amdhd1 APN 10 93527246 missense probably damaging 0.99
IGL03162:Amdhd1 APN 10 93531475 splice site probably null
R0893:Amdhd1 UTSW 10 93527651 missense probably damaging 1.00
R1857:Amdhd1 UTSW 10 93531554 missense probably damaging 1.00
R2890:Amdhd1 UTSW 10 93527264 missense probably benign 0.02
R4159:Amdhd1 UTSW 10 93534650 missense probably damaging 1.00
R4768:Amdhd1 UTSW 10 93534484 missense possibly damaging 0.88
R4941:Amdhd1 UTSW 10 93531601 missense probably damaging 1.00
R5199:Amdhd1 UTSW 10 93525985 missense probably damaging 1.00
R5917:Amdhd1 UTSW 10 93524470 missense possibly damaging 0.95
R6831:Amdhd1 UTSW 10 93527256 missense probably damaging 0.97
R7100:Amdhd1 UTSW 10 93537074 intron probably null
R7294:Amdhd1 UTSW 10 93534439 missense probably benign 0.09
R7638:Amdhd1 UTSW 10 93534498 nonsense probably null
Posted On2013-06-21