Incidental Mutation 'R0305:Aldh16a1'
ID 24897
Institutional Source Beutler Lab
Gene Symbol Aldh16a1
Ensembl Gene ENSMUSG00000007833
Gene Name aldehyde dehydrogenase 16 family, member A1
Synonyms 2410004H02Rik
MMRRC Submission 038516-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0305 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 44791257-44804008 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 44797403 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 135 (R135Q)
Ref Sequence ENSEMBL: ENSMUSP00000148069 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107815] [ENSMUST00000209957] [ENSMUST00000209963] [ENSMUST00000210125] [ENSMUST00000211169] [ENSMUST00000211362]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000007977
AA Change: R135Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000007977
Gene: ENSMUSG00000007833
AA Change: R135Q

DomainStartEndE-ValueType
Pfam:Aldedh 48 488 1.1e-84 PFAM
Pfam:Aldedh 537 774 4.7e-31 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000107815
AA Change: R135Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103445
Gene: ENSMUSG00000007833
AA Change: R135Q

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: R135Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210539
Predicted Effect probably benign
Transcript: ENSMUST00000210125
Predicted Effect probably benign
Transcript: ENSMUST00000211169
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210725
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210352
Predicted Effect probably benign
Transcript: ENSMUST00000211362
Meta Mutation Damage Score 0.2041 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.5%
  • 20x: 91.2%
Validation Efficiency 100% (59/59)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022A10Rik G A 7: 27,274,061 (GRCm39) R183Q probably damaging Het
Abca5 A G 11: 110,164,137 (GRCm39) probably benign Het
Ada T C 2: 163,570,077 (GRCm39) K312R probably benign Het
Adam21 C A 12: 81,607,059 (GRCm39) K234N possibly damaging Het
Afdn T A 17: 14,108,776 (GRCm39) probably null Het
Aimp1 T G 3: 132,379,747 (GRCm39) K132Q possibly damaging Het
Alox12b A T 11: 69,058,205 (GRCm39) Y519F probably benign Het
Alppl2 T C 1: 87,017,324 (GRCm39) E25G probably benign Het
Apob A T 12: 8,062,210 (GRCm39) N3531I probably damaging Het
Arhgap23 T C 11: 97,391,935 (GRCm39) L321P probably damaging Het
Cab39l C T 14: 59,757,028 (GRCm39) Q137* probably null Het
Cenpo A T 12: 4,266,660 (GRCm39) H149Q possibly damaging Het
Cpt1a A G 19: 3,428,455 (GRCm39) T610A probably benign Het
Dcbld2 A G 16: 58,269,302 (GRCm39) T271A probably damaging Het
Dcps A G 9: 35,087,065 (GRCm39) probably null Het
Dnai2 A G 11: 114,643,720 (GRCm39) D462G probably benign Het
Dsg2 T A 18: 20,715,752 (GRCm39) probably benign Het
Eomes A T 9: 118,313,825 (GRCm39) E623D probably benign Het
Fras1 A T 5: 96,744,747 (GRCm39) H594L probably benign Het
Gad1-ps T G 10: 99,280,665 (GRCm39) noncoding transcript Het
Galk2 A G 2: 125,729,808 (GRCm39) Y63C probably damaging Het
H2-T10 A G 17: 36,430,260 (GRCm39) L227P probably damaging Het
Itgb4 T G 11: 115,870,238 (GRCm39) C73G probably damaging Het
Itpr2 T C 6: 146,212,601 (GRCm39) H1472R possibly damaging Het
Kcnh5 C T 12: 75,161,171 (GRCm39) A246T probably benign Het
Kpna6 G T 4: 129,543,042 (GRCm39) R458S probably benign Het
Lifr A G 15: 7,206,982 (GRCm39) T498A probably damaging Het
Lrrd1 T G 5: 3,915,707 (GRCm39) I768S probably damaging Het
Map2 T C 1: 66,452,253 (GRCm39) V223A probably benign Het
Nod2 G A 8: 89,391,951 (GRCm39) A731T probably damaging Het
Nrxn2 G A 19: 6,569,313 (GRCm39) C1403Y probably damaging Het
Nxph1 A T 6: 9,247,754 (GRCm39) I242F probably damaging Het
Or5p79 G A 7: 108,221,792 (GRCm39) V258I probably benign Het
Pgr A G 9: 8,902,088 (GRCm39) probably benign Het
Pik3cb A G 9: 98,946,129 (GRCm39) S566P possibly damaging Het
Sema4d T C 13: 51,866,764 (GRCm39) Y242C probably damaging Het
Sftpc T A 14: 70,761,518 (GRCm39) probably benign Het
Sh3tc1 T G 5: 35,881,343 (GRCm39) E33D probably benign Het
Slc17a5 A G 9: 78,464,819 (GRCm39) L344P probably benign Het
Slc39a5 T A 10: 128,234,265 (GRCm39) probably benign Het
Slc7a13 C A 4: 19,839,401 (GRCm39) H335N probably benign Het
Slco1a4 A C 6: 141,763,479 (GRCm39) N412K possibly damaging Het
Sox1 A T 8: 12,446,736 (GRCm39) T126S probably damaging Het
Specc1l T A 10: 75,081,663 (GRCm39) V353E probably damaging Het
Stat5b T C 11: 100,693,329 (GRCm39) E104G probably benign Het
Sult4a1 A G 15: 83,970,868 (GRCm39) V179A probably damaging Het
Tafa5 T A 15: 87,604,709 (GRCm39) I83N probably damaging Het
Tbl3 G A 17: 24,924,435 (GRCm39) R134C probably damaging Het
Tmem256 T A 11: 69,729,737 (GRCm39) probably benign Het
Tmigd1 A G 11: 76,797,960 (GRCm39) T101A probably damaging Het
Unc5b C A 10: 60,615,437 (GRCm39) probably benign Het
Unc79 T A 12: 103,079,459 (GRCm39) S1679T probably benign Het
Vmn2r1 T G 3: 63,997,087 (GRCm39) C248G probably damaging Het
Vmn2r57 T C 7: 41,076,967 (GRCm39) I400V probably benign Het
Vwa8 T A 14: 79,246,713 (GRCm39) L685H probably damaging Het
Yeats4 A G 10: 117,051,741 (GRCm39) F172S probably damaging Het
Zfpm2 T G 15: 40,637,431 (GRCm39) probably benign 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
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
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
Predicted Primers PCR Primer
(F):5'- TCCATAATGAGCGCATGGACGG -3'
(R):5'- GGTAATCAGTGACCAGGAGCATCG -3'

Sequencing Primer
(F):5'- CATGGACGGGTTGGTTTTC -3'
(R):5'- ACAGAGTCTGACACTCTCTTGTAG -3'
Posted On 2013-04-16