Incidental Mutation 'IGL03348:Aldh16a1'
ID419583
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aldh16a1
Ensembl Gene ENSMUSG00000007833
Gene Namealdehyde dehydrogenase 16 family, member A1
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03348
Quality Score
Status
Chromosome7
Chromosomal Location45140684-45154584 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 45141975 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glutamine at position 102 (R102Q)
Ref Sequence ENSEMBL: ENSMUSP00000148006 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107815] [ENSMUST00000209963] [ENSMUST00000211169]
Predicted Effect probably benign
Transcript: ENSMUST00000107815
SMART Domains Protein: ENSMUSP00000103445
Gene: ENSMUSG00000007833

DomainStartEndE-ValueType
Pfam:Aldedh 48 488 3.8e-87 PFAM
Pfam:Aldedh 536 753 2.7e-30 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209581
Predicted Effect probably benign
Transcript: ENSMUST00000209963
AA Change: R792Q

PolyPhen 2 Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210539
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210725
Predicted Effect possibly damaging
Transcript: ENSMUST00000211169
AA Change: R102Q

PolyPhen 2 Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the aldehyde dehydrogenase superfamily. The family members act on aldehyde substrates and use nicotinamide adenine dinucleotide phosphate (NADP) as a cofactor. This gene is conserved in chimpanzee, dog, cow, mouse, rat, and zebrafish. The protein encoded by this gene interacts with maspardin, a protein that when truncated is responsible for Mast syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2010]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A330008L17Rik A C 8: 99,421,692 noncoding transcript Het
Adgrv1 T C 13: 81,499,058 N3121S possibly damaging Het
Atp9b A T 18: 80,836,422 I346K possibly damaging Het
Baiap2l1 T C 5: 144,278,531 K388R probably benign Het
BC024978 T G 7: 27,197,120 probably null Het
Cfap65 A C 1: 74,927,619 I303S probably damaging Het
Chd5 C T 4: 152,376,685 P1244L probably damaging Het
Col12a1 A G 9: 79,693,430 S791P possibly damaging Het
Ctsz T A 2: 174,428,697 I231F probably damaging Het
Dnah8 A G 17: 30,746,986 T2431A probably damaging Het
Eif4b T C 15: 102,093,031 probably benign Het
Epha4 T C 1: 77,507,172 I67V possibly damaging Het
Exoc1 T A 5: 76,535,593 V55D probably damaging Het
Exosc8 A T 3: 54,732,722 D72E possibly damaging Het
F5 C T 1: 164,194,152 P1399S possibly damaging Het
Fmo1 T A 1: 162,850,151 N132I possibly damaging Het
Fndc1 T A 17: 7,772,647 H739L unknown Het
Glb1l2 T C 9: 26,765,680 D415G probably benign Het
Gphn T A 12: 78,627,119 H498Q probably damaging Het
Lrrc56 A G 7: 141,207,240 N342S probably benign Het
Mbnl3 G A X: 51,164,548 T16I probably damaging Het
Mrps5 T G 2: 127,601,385 H294Q probably damaging Het
Neu4 A G 1: 94,024,974 Y355C possibly damaging Het
Obscn A T 11: 59,050,362 D5105E probably damaging Het
Olfr1187-ps1 T C 2: 88,540,141 noncoding transcript Het
Olfr1305 C A 2: 111,873,148 A236S probably damaging Het
Olfr498 A G 7: 108,465,408 D28G probably benign Het
Olfr725 A G 14: 50,034,755 I216T probably benign Het
Parp1 T A 1: 180,577,707 probably benign Het
Plac1 A T X: 53,070,640 N64K probably damaging Het
Plcd1 C A 9: 119,072,490 K655N possibly damaging Het
Psme4 T C 11: 30,876,796 S1772P probably damaging Het
Shcbp1 C T 8: 4,765,089 V130I probably benign Het
Slc25a11 T C 11: 70,645,344 probably benign Het
Svep1 C T 4: 58,113,635 G1004E probably damaging Het
Tars2 T C 3: 95,740,268 probably null Het
Tbc1d12 C T 19: 38,916,620 T593I probably damaging Het
Tcerg1l T A 7: 138,213,371 E526D probably damaging Het
Tmcc3 G A 10: 94,579,080 V215M possibly damaging Het
Trappc8 T C 18: 20,852,781 D601G probably damaging Het
Trp53bp2 T A 1: 182,453,748 N971K probably damaging Het
Ube2g2 A T 10: 77,630,877 E36D probably benign Het
Uggt2 T A 14: 119,070,888 R360S probably benign Het
Utp20 A G 10: 88,758,317 V2182A probably benign Het
Other mutations in Aldh16a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01394:Aldh16a1 APN 7 45145513 missense probably benign 0.00
IGL01449:Aldh16a1 APN 7 45141967 missense probably damaging 0.99
IGL01599:Aldh16a1 APN 7 45142093 missense probably damaging 0.99
IGL02118:Aldh16a1 APN 7 45146035 missense probably damaging 1.00
IGL02120:Aldh16a1 APN 7 45146035 missense probably damaging 1.00
IGL02123:Aldh16a1 APN 7 45146035 missense probably damaging 1.00
IGL02125:Aldh16a1 APN 7 45146035 missense probably damaging 1.00
IGL02126:Aldh16a1 APN 7 45146035 missense probably damaging 1.00
IGL02794:Aldh16a1 APN 7 45145594 missense probably damaging 0.98
G1Funyon:Aldh16a1 UTSW 7 45141982 missense possibly damaging 0.80
R0242:Aldh16a1 UTSW 7 45144664 missense probably damaging 1.00
R0242:Aldh16a1 UTSW 7 45144664 missense probably damaging 1.00
R0305:Aldh16a1 UTSW 7 45147979 missense probably damaging 1.00
R0532:Aldh16a1 UTSW 7 45142838 missense probably damaging 1.00
R0550:Aldh16a1 UTSW 7 45146229 splice site probably null
R0707:Aldh16a1 UTSW 7 45144507 unclassified probably benign
R0801:Aldh16a1 UTSW 7 45147476 missense probably benign 0.00
R1224:Aldh16a1 UTSW 7 45142047 splice site probably null
R1371:Aldh16a1 UTSW 7 45147250 missense possibly damaging 0.78
R1778:Aldh16a1 UTSW 7 45147308 missense probably damaging 1.00
R2064:Aldh16a1 UTSW 7 45147161 critical splice donor site probably null
R4616:Aldh16a1 UTSW 7 45148788 intron probably benign
R4859:Aldh16a1 UTSW 7 45147307 missense probably benign 0.10
R4928:Aldh16a1 UTSW 7 45141961 missense probably damaging 1.00
R5476:Aldh16a1 UTSW 7 45142069 missense possibly damaging 0.89
R5591:Aldh16a1 UTSW 7 45144652 missense probably null 0.82
R5647:Aldh16a1 UTSW 7 45154465 missense probably benign 0.00
R5692:Aldh16a1 UTSW 7 45147799 missense probably damaging 1.00
R5698:Aldh16a1 UTSW 7 45154407 unclassified probably benign
R5879:Aldh16a1 UTSW 7 45147506 nonsense probably null
R5890:Aldh16a1 UTSW 7 45144545 missense probably benign 0.00
R6321:Aldh16a1 UTSW 7 45149765 missense probably damaging 1.00
R6338:Aldh16a1 UTSW 7 45141961 missense probably damaging 1.00
R6373:Aldh16a1 UTSW 7 45146271 missense probably benign 0.00
R6497:Aldh16a1 UTSW 7 45144937 missense possibly damaging 0.93
R6566:Aldh16a1 UTSW 7 45143227 missense probably benign 0.22
R7248:Aldh16a1 UTSW 7 45145594 missense probably damaging 0.98
R7303:Aldh16a1 UTSW 7 45147904 missense probably damaging 1.00
R7467:Aldh16a1 UTSW 7 45145907 missense probably benign 0.03
R7636:Aldh16a1 UTSW 7 45147531 missense unknown
R7830:Aldh16a1 UTSW 7 45146225 missense probably damaging 0.98
R8301:Aldh16a1 UTSW 7 45141982 missense possibly damaging 0.80
R8444:Aldh16a1 UTSW 7 45149691 missense probably benign 0.00
R8801:Aldh16a1 UTSW 7 45142014 missense probably benign
Z1177:Aldh16a1 UTSW 7 45145903 missense probably null 1.00
Posted On2016-08-02