Incidental Mutation 'R7861:Aldh7a1'
ID 607551
Institutional Source Beutler Lab
Gene Symbol Aldh7a1
Ensembl Gene ENSMUSG00000053644
Gene Name aldehyde dehydrogenase family 7, member A1
Synonyms D18Wsu181e, Atq1
MMRRC Submission 045914-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.119) question?
Stock # R7861 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 56509687-56572951 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to A at 56548453 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Cysteine to Phenylalanine at position 215 (C215F)
Ref Sequence ENSEMBL: ENSMUSP00000065089 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066208] [ENSMUST00000171844] [ENSMUST00000172734] [ENSMUST00000174518] [ENSMUST00000174704]
AlphaFold Q9DBF1
Predicted Effect probably benign
Transcript: ENSMUST00000066208
AA Change: C215F

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000065089
Gene: ENSMUSG00000053644
AA Change: C215F

Pfam:Aldedh 59 522 1.2e-130 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000170309
SMART Domains Protein: ENSMUSP00000127625
Gene: ENSMUSG00000053644

Pfam:Aldedh 60 155 7.3e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000171844
SMART Domains Protein: ENSMUSP00000127652
Gene: ENSMUSG00000053644

Pfam:Aldedh 47 121 1.8e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000172734
AA Change: C215F

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000134192
Gene: ENSMUSG00000053644
AA Change: C215F

Pfam:Aldedh 59 340 6.3e-74 PFAM
Pfam:Aldedh 338 458 3.2e-31 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000174518
AA Change: C187F

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000133372
Gene: ENSMUSG00000053644
AA Change: C187F

Pfam:Aldedh 31 494 7.3e-130 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000174704
AA Change: C213F

PolyPhen 2 Score 0.364 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000133970
Gene: ENSMUSG00000053644
AA Change: C213F

Pfam:Aldedh 57 293 1.4e-54 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of subfamily 7 in the aldehyde dehydrogenase gene family. These enzymes are thought to play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. This particular member has homology to a previously described protein from the green garden pea, the 26g pea turgor protein. It is also involved in lysine catabolism that is known to occur in the mitochondrial matrix. Recent reports show that this protein is found both in the cytosol and the mitochondria, and the two forms likely arise from the use of alternative translation initiation sites. An additional variant encoding a different isoform has also been found for this gene. Mutations in this gene are associated with pyridoxine-dependent epilepsy. Several related pseudogenes have also been identified. [provided by RefSeq, Jan 2011]
PHENOTYPE: Mice homozygous for disruptions in this gene display a normal phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700016H13Rik T A 5: 103,649,494 (GRCm38) I50F possibly damaging Het
Abcc3 T C 11: 94,357,249 (GRCm38) D1175G probably null Het
Accs C A 2: 93,835,732 (GRCm38) *503L probably null Het
Adgra2 A G 8: 27,114,457 (GRCm38) E520G probably damaging Het
Apbb1ip A C 2: 22,816,978 (GRCm38) D9A unknown Het
Atad2 G A 15: 58,125,780 (GRCm38) A228V probably benign Het
Atp10a T C 7: 58,788,359 (GRCm38) S430P probably damaging Het
Atp1a3 T C 7: 25,001,148 (GRCm38) D6G unknown Het
Brca1 A T 11: 101,526,422 (GRCm38) N295K possibly damaging Het
Caly C A 7: 140,081,388 (GRCm38) probably benign Het
Ces1h A G 8: 93,357,425 (GRCm38) Y386H unknown Het
Col14a1 A G 15: 55,444,616 (GRCm38) D1044G unknown Het
Csf2rb A G 15: 78,349,157 (GRCm38) D888G probably damaging Het
Cux1 T C 5: 136,252,604 (GRCm38) E568G possibly damaging Het
Dhrs7b T A 11: 60,855,742 (GRCm38) L219Q probably damaging Het
Dlg5 G A 14: 24,245,212 (GRCm38) P80L probably damaging Het
Dnah14 C T 1: 181,616,759 (GRCm38) P545S probably damaging Het
Dnajc24 A T 2: 106,002,035 (GRCm38) M1K probably null Het
Dusp12 C T 1: 170,874,526 (GRCm38) W301* probably null Het
Dyrk1a G T 16: 94,691,716 (GRCm38) G603* probably null Het
Eif4g1 T A 16: 20,679,702 (GRCm38) V403E probably benign Het
Epn3 T C 11: 94,496,274 (GRCm38) E90G probably damaging Het
Etl4 A G 2: 20,805,910 (GRCm38) S1303G probably benign Het
Evpl A T 11: 116,228,069 (GRCm38) Y627N probably damaging Het
Fbxw25 A T 9: 109,664,557 (GRCm38) L22* probably null Het
Fcamr T A 1: 130,814,638 (GRCm38) N587K probably benign Het
Fgd6 A G 10: 94,103,331 (GRCm38) N946S probably benign Het
Fndc3b A T 3: 27,468,999 (GRCm38) I477N possibly damaging Het
Grifin C T 5: 140,564,525 (GRCm38) A54T probably benign Het
Gtf2b A G 3: 142,781,344 (GRCm38) I180M probably damaging Het
Invs A T 4: 48,397,559 (GRCm38) D378V possibly damaging Het
Itgb6 T C 2: 60,628,444 (GRCm38) E378G probably damaging Het
Khdc1a T C 1: 21,350,399 (GRCm38) I81T possibly damaging Het
Kif20b T A 19: 34,939,922 (GRCm38) D617E probably damaging Het
Kifc3 T A 8: 95,107,537 (GRCm38) probably null Het
Kirrel3 C T 9: 35,020,123 (GRCm38) H403Y possibly damaging Het
Klf15 G A 6: 90,466,838 (GRCm38) V132I probably benign Het
Kmt2a A G 9: 44,818,734 (GRCm38) S3429P unknown Het
Lama1 T G 17: 67,809,221 (GRCm38) L2361R Het
Lrp1b T C 2: 40,697,558 (GRCm38) D3895G Het
Mcoln3 A C 3: 146,124,791 (GRCm38) E92A possibly damaging Het
Myo3b T C 2: 70,108,688 (GRCm38) M135T probably damaging Het
Mysm1 A G 4: 94,946,967 (GRCm38) *820Q probably null Het
Ncoa7 A G 10: 30,691,060 (GRCm38) S541P probably benign Het
Nup54 T C 5: 92,431,093 (GRCm38) T33A unknown Het
Or10al2 C A 17: 37,672,517 (GRCm38) Q165K possibly damaging Het
Or13a17 T G 7: 140,691,571 (GRCm38) I222S probably damaging Het
Or1s2 T C 19: 13,781,446 (GRCm38) V276A possibly damaging Het
Or4k42 T A 2: 111,490,024 (GRCm38) I45F probably damaging Het
Or51a5 T A 7: 103,122,692 (GRCm38) I27F probably benign Het
Otud6b A G 4: 14,826,414 (GRCm38) C18R probably benign Het
Pde4d A G 13: 109,935,324 (GRCm38) E284G probably damaging Het
Pidd1 C A 7: 141,440,142 (GRCm38) W598L probably damaging Het
Pira2 A T 7: 3,844,544 (GRCm38) C49S probably damaging Het
Pramel11 T C 4: 143,897,718 (GRCm38) M70V possibly damaging Het
Prdx1 T G 4: 116,693,738 (GRCm38) D135E probably benign Het
Rab15 T A 12: 76,803,129 (GRCm38) Y88F probably damaging Het
Rem2 C A 14: 54,477,799 (GRCm38) H144Q probably damaging Het
Sel1l3 T C 5: 53,144,064 (GRCm38) D737G probably damaging Het
Srd5a3 C T 5: 76,147,819 (GRCm38) Q119* probably null Het
Suclg2 G T 6: 95,594,722 (GRCm38) Q120K probably benign Het
Tacc2 T A 7: 130,625,431 (GRCm38) M1282K probably benign Het
Tbc1d5 T A 17: 50,756,692 (GRCm38) Q620L probably damaging Het
Tdrd3 G T 14: 87,472,154 (GRCm38) A91S probably damaging Het
Thsd7b T A 1: 130,159,698 (GRCm38) F1184Y probably benign Het
Trim28 T A 7: 13,028,412 (GRCm38) V321E possibly damaging Het
Trim5 C A 7: 104,266,468 (GRCm38) probably null Het
Ugt2b37 A T 5: 87,242,440 (GRCm38) Y382* probably null Het
Usp40 C T 1: 87,982,130 (GRCm38) G534D probably damaging Het
Usp53 A T 3: 122,934,463 (GRCm38) H823Q probably benign Het
Vmn2r12 T A 5: 109,087,963 (GRCm38) M508L probably benign Het
Vmn2r56 T A 7: 12,715,424 (GRCm38) I296F probably benign Het
Vps13a T C 19: 16,655,304 (GRCm38) S2563G probably damaging Het
Wdr59 A G 8: 111,494,280 (GRCm38) F207L Het
Zan A G 5: 137,407,033 (GRCm38) S3777P unknown Het
Zfp277 T C 12: 40,315,881 (GRCm38) N530D possibly damaging Het
Zfp365 G A 10: 67,909,919 (GRCm38) R10W probably damaging Het
Zfp384 A T 6: 125,036,325 (GRCm38) H452L probably damaging Het
Zftraf1 C T 15: 76,648,186 (GRCm38) D241N probably benign Het
Zfyve28 A T 5: 34,217,143 (GRCm38) L509Q probably damaging Het
Other mutations in Aldh7a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02690:Aldh7a1 APN 18 56,528,355 (GRCm38) splice site probably benign
IGL02887:Aldh7a1 APN 18 56,542,216 (GRCm38) intron probably benign
R0462:Aldh7a1 UTSW 18 56,534,214 (GRCm38) splice site probably null
R0595:Aldh7a1 UTSW 18 56,546,893 (GRCm38) splice site probably benign
R0657:Aldh7a1 UTSW 18 56,537,197 (GRCm38) splice site probably benign
R0947:Aldh7a1 UTSW 18 56,560,838 (GRCm38) splice site probably null
R1295:Aldh7a1 UTSW 18 56,546,950 (GRCm38) critical splice acceptor site probably null
R1385:Aldh7a1 UTSW 18 56,542,285 (GRCm38) missense probably damaging 1.00
R1403:Aldh7a1 UTSW 18 56,559,269 (GRCm38) nonsense probably null
R1403:Aldh7a1 UTSW 18 56,559,269 (GRCm38) nonsense probably null
R1517:Aldh7a1 UTSW 18 56,532,061 (GRCm38) missense probably damaging 0.99
R1550:Aldh7a1 UTSW 18 56,550,382 (GRCm38) missense possibly damaging 0.49
R3552:Aldh7a1 UTSW 18 56,550,292 (GRCm38) splice site probably null
R3953:Aldh7a1 UTSW 18 56,548,505 (GRCm38) missense probably damaging 0.99
R4124:Aldh7a1 UTSW 18 56,537,323 (GRCm38) intron probably benign
R4296:Aldh7a1 UTSW 18 56,544,963 (GRCm38) critical splice donor site probably null
R4355:Aldh7a1 UTSW 18 56,548,494 (GRCm38) missense probably null 0.09
R4549:Aldh7a1 UTSW 18 56,531,994 (GRCm38) missense probably benign 0.09
R4851:Aldh7a1 UTSW 18 56,532,016 (GRCm38) missense possibly damaging 0.95
R5288:Aldh7a1 UTSW 18 56,534,253 (GRCm38) missense possibly damaging 0.85
R5384:Aldh7a1 UTSW 18 56,534,253 (GRCm38) missense possibly damaging 0.85
R5385:Aldh7a1 UTSW 18 56,534,253 (GRCm38) missense possibly damaging 0.85
R5547:Aldh7a1 UTSW 18 56,528,284 (GRCm38) missense probably damaging 1.00
R6505:Aldh7a1 UTSW 18 56,526,996 (GRCm38) missense probably damaging 1.00
R7373:Aldh7a1 UTSW 18 56,542,317 (GRCm38) missense possibly damaging 0.48
R8205:Aldh7a1 UTSW 18 56,544,998 (GRCm38) missense probably damaging 1.00
R8925:Aldh7a1 UTSW 18 56,526,988 (GRCm38) missense probably benign
R8927:Aldh7a1 UTSW 18 56,526,988 (GRCm38) missense probably benign
Z1177:Aldh7a1 UTSW 18 56,526,991 (GRCm38) missense probably benign
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2019-12-20