Incidental Mutation 'IGL02123:Aldh16a1'
ID 280736
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aldh16a1
Ensembl Gene ENSMUSG00000007833
Gene Name aldehyde dehydrogenase 16 family, member A1
Synonyms 2410004H02Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02123
Quality Score
Status
Chromosome 7
Chromosomal Location 44791257-44804008 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 44795459 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 400 (P400L)
Ref Sequence ENSEMBL: ENSMUSP00000148069 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107815] [ENSMUST00000209957] [ENSMUST00000209963] [ENSMUST00000211169] [ENSMUST00000211362] [ENSMUST00000210125]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000107815
AA Change: P400L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103445
Gene: ENSMUSG00000007833
AA Change: P400L

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 noncoding transcript
Transcript: ENSMUST00000209755
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209889
Predicted Effect probably benign
Transcript: ENSMUST00000209957
Predicted Effect probably damaging
Transcript: ENSMUST00000209963
AA Change: P400L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210352
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210725
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210539
Predicted Effect probably benign
Transcript: ENSMUST00000211169
Predicted Effect probably benign
Transcript: ENSMUST00000211362
Predicted Effect probably benign
Transcript: ENSMUST00000210125
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp7 T C 7: 28,328,914 (GRCm39) T31A probably benign Het
Ampd3 T C 7: 110,401,766 (GRCm39) V429A possibly damaging Het
Brd8 C T 18: 34,735,780 (GRCm39) S899N probably damaging Het
Cldn11 C T 3: 31,204,336 (GRCm39) T13M probably benign Het
Cngb3 C A 4: 19,367,801 (GRCm39) Q237K probably damaging Het
Col12a1 A G 9: 79,569,740 (GRCm39) probably null Het
Copa T A 1: 171,939,695 (GRCm39) L621H probably damaging Het
Dbn1 T C 13: 55,624,553 (GRCm39) D332G possibly damaging Het
Drc1 T C 5: 30,504,448 (GRCm39) S197P probably benign Het
E2f2 A G 4: 135,900,159 (GRCm39) N23S probably benign Het
Epb41l2 T A 10: 25,336,742 (GRCm39) L246H probably damaging Het
Fam13b G A 18: 34,578,671 (GRCm39) probably benign Het
Fam184b A G 5: 45,796,493 (GRCm39) M30T possibly damaging Het
Fn3krp G A 11: 121,320,270 (GRCm39) R205H probably benign Het
Fndc11 A G 2: 180,863,443 (GRCm39) I83V probably benign Het
Garin2 T C 12: 78,780,981 (GRCm39) probably null Het
Gm3629 C T 14: 17,834,541 (GRCm39) R150H probably benign Het
Hs6st1 T A 1: 36,142,952 (GRCm39) F296I possibly damaging Het
Igsf10 T A 3: 59,226,081 (GRCm39) I2531F probably damaging Het
Klhl40 T C 9: 121,608,989 (GRCm39) F385L probably benign Het
Krt87 A T 15: 101,385,466 (GRCm39) M302K possibly damaging Het
Lrrc43 A T 5: 123,632,342 (GRCm39) I162F probably damaging Het
Map3k21 A G 8: 126,652,849 (GRCm39) E325G probably damaging Het
Mpo A T 11: 87,685,621 (GRCm39) N33I probably benign Het
Mpp4 A G 1: 59,200,625 (GRCm39) probably null Het
Muc5b C T 7: 141,417,494 (GRCm39) T3480I possibly damaging Het
Myo6 T C 9: 80,171,554 (GRCm39) probably benign Het
Nostrin C T 2: 68,986,453 (GRCm39) probably benign Het
Nphp1 T C 2: 127,595,969 (GRCm39) M498V probably benign Het
Nr4a2 A T 2: 57,001,667 (GRCm39) L199Q possibly damaging Het
Pcdhb6 A T 18: 37,468,873 (GRCm39) N598I probably damaging Het
Pex19 T A 1: 171,961,853 (GRCm39) M207K probably damaging Het
Pfkfb4 C T 9: 108,854,178 (GRCm39) R351W probably damaging Het
Plekha2 T C 8: 25,532,745 (GRCm39) K409E probably damaging Het
Plxna2 T C 1: 194,476,691 (GRCm39) L1169P probably damaging Het
Pmpcb A G 5: 21,948,373 (GRCm39) probably benign Het
Ptrh1 T C 2: 32,666,826 (GRCm39) probably benign Het
Rc3h2 T C 2: 37,288,265 (GRCm39) E439G probably damaging Het
Ric1 C T 19: 29,572,200 (GRCm39) A665V probably benign Het
Stx18 T A 5: 38,285,447 (GRCm39) V219D probably damaging Het
Taf7 A T 18: 37,775,533 (GRCm39) probably benign Het
Tbc1d8 A G 1: 39,415,988 (GRCm39) I895T possibly damaging Het
Tbc1d8 A G 1: 39,419,317 (GRCm39) S766P probably damaging Het
Tekt3 C A 11: 62,974,766 (GRCm39) H362N probably benign Het
Tmem214 G A 5: 31,030,090 (GRCm39) A296T probably benign Het
Tmem94 T C 11: 115,678,364 (GRCm39) S196P possibly damaging Het
Vmn2r14 T C 5: 109,367,933 (GRCm39) Y353C probably damaging Het
Vmn2r9 G A 5: 108,991,502 (GRCm39) L620F probably damaging Het
Vmn2r90 T G 17: 17,953,744 (GRCm39) M636R probably benign Het
Vmn2r98 T A 17: 19,300,941 (GRCm39) C648S probably damaging Het
Zfpm2 G A 15: 40,965,591 (GRCm39) C560Y probably damaging Het
Other mutations in Aldh16a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01394:Aldh16a1 APN 7 44,794,937 (GRCm39) missense probably benign 0.00
IGL01449:Aldh16a1 APN 7 44,791,391 (GRCm39) missense probably damaging 0.99
IGL01599:Aldh16a1 APN 7 44,791,517 (GRCm39) missense probably damaging 0.99
IGL02118:Aldh16a1 APN 7 44,795,459 (GRCm39) missense probably damaging 1.00
IGL02120:Aldh16a1 APN 7 44,795,459 (GRCm39) missense probably damaging 1.00
IGL02125:Aldh16a1 APN 7 44,795,459 (GRCm39) missense probably damaging 1.00
IGL02126:Aldh16a1 APN 7 44,795,459 (GRCm39) missense probably damaging 1.00
IGL02794:Aldh16a1 APN 7 44,795,018 (GRCm39) missense probably damaging 0.98
IGL03348:Aldh16a1 APN 7 44,791,399 (GRCm39) missense possibly damaging 0.85
G1Funyon:Aldh16a1 UTSW 7 44,791,406 (GRCm39) missense possibly damaging 0.80
R0242:Aldh16a1 UTSW 7 44,794,088 (GRCm39) missense probably damaging 1.00
R0242:Aldh16a1 UTSW 7 44,794,088 (GRCm39) missense probably damaging 1.00
R0305:Aldh16a1 UTSW 7 44,797,403 (GRCm39) missense probably damaging 1.00
R0532:Aldh16a1 UTSW 7 44,792,262 (GRCm39) missense probably damaging 1.00
R0550:Aldh16a1 UTSW 7 44,795,653 (GRCm39) splice site probably null
R0707:Aldh16a1 UTSW 7 44,793,931 (GRCm39) unclassified probably benign
R0801:Aldh16a1 UTSW 7 44,796,900 (GRCm39) missense probably benign 0.00
R1224:Aldh16a1 UTSW 7 44,791,471 (GRCm39) splice site probably null
R1371:Aldh16a1 UTSW 7 44,796,674 (GRCm39) missense possibly damaging 0.78
R1778:Aldh16a1 UTSW 7 44,796,732 (GRCm39) missense probably damaging 1.00
R2064:Aldh16a1 UTSW 7 44,796,585 (GRCm39) critical splice donor site probably null
R4616:Aldh16a1 UTSW 7 44,798,212 (GRCm39) intron probably benign
R4859:Aldh16a1 UTSW 7 44,796,731 (GRCm39) missense probably benign 0.10
R4928:Aldh16a1 UTSW 7 44,791,385 (GRCm39) missense probably damaging 1.00
R5476:Aldh16a1 UTSW 7 44,791,493 (GRCm39) missense possibly damaging 0.89
R5591:Aldh16a1 UTSW 7 44,794,076 (GRCm39) missense probably null 0.82
R5647:Aldh16a1 UTSW 7 44,803,889 (GRCm39) missense probably benign 0.00
R5692:Aldh16a1 UTSW 7 44,797,223 (GRCm39) missense probably damaging 1.00
R5698:Aldh16a1 UTSW 7 44,803,831 (GRCm39) unclassified probably benign
R5879:Aldh16a1 UTSW 7 44,796,930 (GRCm39) nonsense probably null
R5890:Aldh16a1 UTSW 7 44,793,969 (GRCm39) missense probably benign 0.00
R6321:Aldh16a1 UTSW 7 44,799,189 (GRCm39) missense probably damaging 1.00
R6338:Aldh16a1 UTSW 7 44,791,385 (GRCm39) missense probably damaging 1.00
R6373:Aldh16a1 UTSW 7 44,795,695 (GRCm39) missense probably benign 0.00
R6497:Aldh16a1 UTSW 7 44,794,361 (GRCm39) missense possibly damaging 0.93
R6566:Aldh16a1 UTSW 7 44,792,651 (GRCm39) missense probably benign 0.22
R7248:Aldh16a1 UTSW 7 44,795,018 (GRCm39) missense probably damaging 0.98
R7303:Aldh16a1 UTSW 7 44,797,328 (GRCm39) missense probably damaging 1.00
R7467:Aldh16a1 UTSW 7 44,795,331 (GRCm39) missense probably benign 0.03
R7636:Aldh16a1 UTSW 7 44,796,955 (GRCm39) missense unknown
R7830:Aldh16a1 UTSW 7 44,795,649 (GRCm39) missense probably damaging 0.98
R8301:Aldh16a1 UTSW 7 44,791,406 (GRCm39) missense possibly damaging 0.80
R8444:Aldh16a1 UTSW 7 44,799,115 (GRCm39) missense probably benign 0.00
R8801:Aldh16a1 UTSW 7 44,791,438 (GRCm39) missense probably benign
R9011:Aldh16a1 UTSW 7 44,794,951 (GRCm39) missense probably damaging 0.98
R9187:Aldh16a1 UTSW 7 44,791,441 (GRCm39) missense probably damaging 0.99
R9620:Aldh16a1 UTSW 7 44,797,413 (GRCm39) nonsense probably null
Z1177:Aldh16a1 UTSW 7 44,795,327 (GRCm39) missense probably null 1.00
Posted On 2015-04-16