Incidental Mutation 'IGL01599:Aldh16a1'
ID 92058
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 # IGL01599
Quality Score
Status
Chromosome 7
Chromosomal Location 44791257-44804008 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 44791517 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 753 (F753L)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107815] [ENSMUST00000209963] [ENSMUST00000211169]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000007977
AA Change: F753L

PolyPhen 2 Score 0.990 (Sensitivity: 0.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000007977
Gene: ENSMUSG00000007833
AA Change: F753L

DomainStartEndE-ValueType
Pfam:Aldedh 48 488 1.1e-84 PFAM
Pfam:Aldedh 537 774 4.7e-31 PFAM
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: F753L

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210539
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210725
Predicted Effect probably benign
Transcript: ENSMUST00000211169
AA Change: F63L

PolyPhen 2 Score 0.288 (Sensitivity: 0.91; Specificity: 0.88)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ackr3 T C 1: 90,141,856 (GRCm39) V105A probably benign Het
Acr T C 15: 89,452,617 (GRCm39) V18A probably benign Het
Adgra2 G A 8: 27,608,761 (GRCm39) A540T possibly damaging Het
Ankfy1 T A 11: 72,629,191 (GRCm39) Y338N probably benign Het
Aox3 C T 1: 58,208,953 (GRCm39) R829C probably damaging Het
Arhgef11 T C 3: 87,644,353 (GRCm39) S1535P probably benign Het
C4b A G 17: 34,961,993 (GRCm39) probably benign Het
Ccdc157 A G 11: 4,098,781 (GRCm39) C242R probably damaging Het
Cep135 T A 5: 76,741,194 (GRCm39) M90K possibly damaging Het
Cfap36 A T 11: 29,194,057 (GRCm39) probably null Het
Chl1 A G 6: 103,685,445 (GRCm39) T829A probably benign Het
Copb2 T C 9: 98,463,203 (GRCm39) S473P probably damaging Het
Cpb1 C T 3: 20,306,118 (GRCm39) probably null Het
Cpsf1 A G 15: 76,480,741 (GRCm39) L1295P probably damaging Het
Dmp1 C T 5: 104,360,328 (GRCm39) Q335* probably null Het
Dyrk1a T A 16: 94,492,743 (GRCm39) S621T possibly damaging Het
Exoc5 T A 14: 49,272,421 (GRCm39) Q331L probably benign Het
Fmnl1 G A 11: 103,077,482 (GRCm39) V287M probably damaging Het
Fras1 T C 5: 96,857,750 (GRCm39) S2015P possibly damaging Het
Gm7052 T C 17: 22,258,985 (GRCm39) probably benign Het
Gprc5c A G 11: 114,755,078 (GRCm39) I252V probably benign Het
Ints3 C T 3: 90,301,629 (GRCm39) probably null Het
L1td1 A G 4: 98,625,581 (GRCm39) D592G probably damaging Het
Lamb3 A G 1: 193,025,720 (GRCm39) M1137V probably benign Het
Leng8 C A 7: 4,148,481 (GRCm39) A751E probably benign Het
Lfng T C 5: 140,598,290 (GRCm39) V204A probably damaging Het
Lsm14b A G 2: 179,674,396 (GRCm39) D233G probably damaging Het
Map4 C T 9: 109,863,836 (GRCm39) P354S probably benign Het
Mapt G A 11: 104,185,741 (GRCm39) V53M probably damaging Het
Mier1 T G 4: 103,012,738 (GRCm39) S377A possibly damaging Het
Neurog1 T C 13: 56,399,660 (GRCm39) D29G probably damaging Het
Npr3 G A 15: 11,895,875 (GRCm39) A257V probably damaging Het
Nup188 T C 2: 30,217,537 (GRCm39) V824A possibly damaging Het
Olfm4 T C 14: 80,258,750 (GRCm39) S333P probably damaging Het
Or7g30 T G 9: 19,353,111 (GRCm39) F301V probably benign Het
Or9a4 A C 6: 40,549,186 (GRCm39) I289L probably damaging Het
Pbxip1 C A 3: 89,350,897 (GRCm39) probably benign Het
Pde9a G T 17: 31,633,124 (GRCm39) C38F probably damaging Het
Plb1 A T 5: 32,499,888 (GRCm39) probably benign Het
Plcz1 T C 6: 139,947,982 (GRCm39) probably benign Het
Plxnb1 T C 9: 108,939,672 (GRCm39) V1447A probably damaging Het
Pnldc1 A T 17: 13,125,415 (GRCm39) M73K probably benign Het
Psg20 C T 7: 18,414,963 (GRCm39) V311M possibly damaging Het
Psmd2 G T 16: 20,478,155 (GRCm39) probably null Het
Rabgap1 T C 2: 37,446,281 (GRCm39) V859A probably damaging Het
Rad51b T A 12: 79,374,002 (GRCm39) S194T probably benign Het
Rb1cc1 C T 1: 6,318,995 (GRCm39) Q788* probably null Het
Ror2 C T 13: 53,265,653 (GRCm39) G468R probably damaging Het
Slamf7 A G 1: 171,468,754 (GRCm39) I46T possibly damaging Het
Stab2 A G 10: 86,758,759 (GRCm39) S1060P probably damaging Het
Syndig1 T A 2: 149,845,203 (GRCm39) V242E probably damaging Het
Tgfbr3 G A 5: 107,266,317 (GRCm39) T801M probably damaging Het
Tmem132c T C 5: 127,436,616 (GRCm39) probably benign Het
Trav21-dv12 T C 14: 54,114,188 (GRCm39) Y103H probably damaging Het
Tut4 T C 4: 108,370,596 (GRCm39) S871P possibly damaging Het
Ubr3 T C 2: 69,768,522 (GRCm39) V443A probably damaging Het
Uhrf2 G T 19: 30,069,520 (GRCm39) C749F probably damaging Het
Ulk2 G T 11: 61,682,262 (GRCm39) S751* probably null Het
Wrn G A 8: 33,731,039 (GRCm39) P1098S possibly damaging Het
Xrcc5 T C 1: 72,385,508 (GRCm39) V533A possibly damaging Het
Zc3h13 T C 14: 75,547,163 (GRCm39) S223P 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
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
IGL02123: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 2013-12-09