Incidental Mutation 'R4851:Aldh7a1'
ID 373594
Institutional Source Beutler Lab
Gene Symbol Aldh7a1
Ensembl Gene ENSMUSG00000053644
Gene Name aldehyde dehydrogenase family 7, member A1
Synonyms D18Wsu181e, Atq1
MMRRC Submission 042463-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.107) question?
Stock # R4851 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 56657794-56706112 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 56665088 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 364 (T364A)
Ref Sequence ENSEMBL: ENSMUSP00000134192 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066208] [ENSMUST00000172734] [ENSMUST00000174518] [ENSMUST00000174704]
AlphaFold Q9DBF1
Predicted Effect possibly damaging
Transcript: ENSMUST00000066208
AA Change: T428A

PolyPhen 2 Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000065089
Gene: ENSMUSG00000053644
AA Change: T428A

DomainStartEndE-ValueType
Pfam:Aldedh 59 522 1.2e-130 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168517
Predicted Effect possibly damaging
Transcript: ENSMUST00000172734
AA Change: T364A

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000134192
Gene: ENSMUSG00000053644
AA Change: T364A

DomainStartEndE-ValueType
Pfam:Aldedh 59 340 6.3e-74 PFAM
Pfam:Aldedh 338 458 3.2e-31 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000174518
AA Change: T400A

PolyPhen 2 Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000133372
Gene: ENSMUSG00000053644
AA Change: T400A

DomainStartEndE-ValueType
Pfam:Aldedh 31 494 7.3e-130 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000174704
SMART Domains Protein: ENSMUSP00000133970
Gene: ENSMUSG00000053644

DomainStartEndE-ValueType
Pfam:Aldedh 57 293 1.4e-54 PFAM
Meta Mutation Damage Score 0.1915 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency 100% (99/99)
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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,433,890 (GRCm39) R4148S probably benign Het
Acoxl T A 2: 127,886,311 (GRCm39) L182Q possibly damaging Het
App T C 16: 84,853,322 (GRCm39) D252G unknown Het
Arid1a A G 4: 133,408,672 (GRCm39) I1945T unknown Het
Arsk C T 13: 76,213,398 (GRCm39) probably null Het
Atad2b G A 12: 4,993,251 (GRCm39) G257S probably benign Het
Best1 C A 19: 9,969,062 (GRCm39) R218L probably damaging Het
Cacna1e A T 1: 154,312,300 (GRCm39) probably null Het
Cdh13 C T 8: 119,484,129 (GRCm39) T130I possibly damaging Het
Cela2a T C 4: 141,552,902 (GRCm39) E25G probably benign Het
Cgnl1 T A 9: 71,632,314 (GRCm39) I346F probably damaging Het
Chil6 C T 3: 106,297,244 (GRCm39) G299D possibly damaging Het
Cic G A 7: 24,972,327 (GRCm39) R686H probably damaging Het
Cnpy1 T C 5: 28,450,738 (GRCm39) I23V probably benign Het
Col6a3 T A 1: 90,707,011 (GRCm39) Y2034F unknown Het
Coq10b T C 1: 55,110,903 (GRCm39) Y224H probably benign Het
Cryge G T 1: 65,090,211 (GRCm39) probably benign Het
Cyb5rl T G 4: 106,941,510 (GRCm39) S252A probably benign Het
Cyp2ab1 T A 16: 20,133,814 (GRCm39) R125S probably damaging Het
Dclk1 G A 3: 55,387,811 (GRCm39) G86R probably damaging Het
Dmtn A G 14: 70,842,254 (GRCm39) M382T probably damaging Het
Dnaaf8 A G 16: 4,794,138 (GRCm39) noncoding transcript Het
Dnah12 T A 14: 26,437,784 (GRCm39) L471* probably null Het
Dock10 A T 1: 80,526,874 (GRCm39) S782T probably benign Het
Egfem1 C A 3: 29,206,032 (GRCm39) H90N possibly damaging Het
Ephb6 T A 6: 41,595,079 (GRCm39) W698R probably benign Het
Exoc4 T A 6: 33,895,343 (GRCm39) C787S probably damaging Het
Exosc8 A T 3: 54,639,523 (GRCm39) probably benign Het
Galc T A 12: 98,193,533 (GRCm39) Q352L probably benign Het
Galns A G 8: 123,327,272 (GRCm39) Y167H probably damaging Het
Glb1l T C 1: 75,185,528 (GRCm39) probably benign Het
Gm6185 A T 1: 161,033,750 (GRCm39) noncoding transcript Het
Gm7694 T C 1: 170,128,794 (GRCm39) N245S probably benign Het
Gmcl1 T G 6: 86,681,538 (GRCm39) K385N possibly damaging Het
Gramd1c A T 16: 43,810,200 (GRCm39) W463R probably damaging Het
Gtpbp8 C G 16: 44,566,433 (GRCm39) A90P probably benign Het
H2bc11 G T 13: 22,227,421 (GRCm39) probably benign Het
Hcar1 T C 5: 124,016,731 (GRCm39) E320G probably benign Het
Hhatl T C 9: 121,618,077 (GRCm39) D226G probably damaging Het
Hoxc5 T A 15: 102,923,801 (GRCm39) I199N probably damaging Het
Iars2 T C 1: 185,059,845 (GRCm39) D121G probably damaging Het
Il5ra T A 6: 106,715,432 (GRCm39) H134L probably benign Het
Isl2 T A 9: 55,452,271 (GRCm39) I281N possibly damaging Het
Kcnk13 T C 12: 99,932,383 (GRCm39) F60L probably damaging Het
Kdelr3 C T 15: 79,409,066 (GRCm39) T85M possibly damaging Het
Kdf1 A T 4: 133,255,676 (GRCm39) H131L probably damaging Het
Mipol1 T A 12: 57,379,087 (GRCm39) L182I probably damaging Het
Morc1 T G 16: 48,381,980 (GRCm39) S513R probably benign Het
Moxd2 A T 6: 40,855,756 (GRCm39) L611H probably damaging Het
Mpped2 T C 2: 106,529,724 (GRCm39) probably benign Het
Mrpl51 T C 6: 125,170,270 (GRCm39) V92A probably benign Het
Mrps26 G A 2: 130,405,681 (GRCm39) probably benign Het
Mrps5 A G 2: 127,432,665 (GRCm39) T29A probably benign Het
Mustn1 A G 14: 30,601,517 (GRCm39) probably benign Het
Ncor2 G A 5: 125,110,431 (GRCm39) P858S possibly damaging Het
Nfasc A G 1: 132,529,759 (GRCm39) F807S probably damaging Het
Nup50 G A 15: 84,823,912 (GRCm39) V422I probably benign Het
Or10x1 T A 1: 174,196,562 (GRCm39) F26L probably benign Het
Or13a25 A T 7: 140,247,226 (GRCm39) M2L probably benign Het
Or1e25 A T 11: 73,493,883 (GRCm39) H159L probably damaging Het
Or2ag13 A T 7: 106,473,221 (GRCm39) V77D probably damaging Het
Or3a1d C A 11: 74,237,769 (GRCm39) V214L probably benign Het
Or4c107 A G 2: 88,788,930 (GRCm39) N40S probably damaging Het
Or8b44 T A 9: 38,410,319 (GRCm39) M118K probably damaging Het
Or8u9 T A 2: 86,002,015 (GRCm39) I49F probably damaging Het
Osbpl8 T A 10: 111,040,661 (GRCm39) M1K probably null Het
Pcdhb22 A C 18: 37,652,087 (GRCm39) D185A possibly damaging Het
Pcdhga8 G T 18: 37,949,457 (GRCm39) R291L probably damaging Het
Saysd1 A T 14: 20,127,672 (GRCm39) L84Q possibly damaging Het
Slc41a1 T C 1: 131,758,508 (GRCm39) I50T probably benign Het
Smg7 G A 1: 152,720,020 (GRCm39) P834S probably benign Het
Speer4a1 C T 5: 26,243,210 (GRCm39) V92M probably damaging Het
Srf T C 17: 46,860,400 (GRCm39) T461A probably benign Het
Ssu72 A G 4: 155,800,053 (GRCm39) D72G possibly damaging Het
Suco T C 1: 161,661,761 (GRCm39) E890G probably damaging Het
Tenm3 A G 8: 48,763,656 (GRCm39) probably null Het
Tm6sf1 A G 7: 81,515,091 (GRCm39) E7G probably null Het
Tm9sf2 A G 14: 122,378,616 (GRCm39) K240R probably benign Het
Tmem52 T A 4: 155,554,825 (GRCm39) Y149* probably null Het
Tpgs2 A T 18: 25,284,305 (GRCm39) Y68N possibly damaging Het
Vmn1r205 T A 13: 22,777,074 (GRCm39) E9D probably benign Het
Vmn2r32 A G 7: 7,482,953 (GRCm39) V7A possibly damaging Het
Vmn2r80 T C 10: 79,030,156 (GRCm39) Y661H possibly damaging Het
Vps39 G A 2: 120,152,312 (GRCm39) probably benign Het
Vwde A T 6: 13,196,047 (GRCm39) V326D possibly damaging Het
Zfp641 T A 15: 98,186,598 (GRCm39) S342C probably damaging Het
Zfp961 T C 8: 72,722,847 (GRCm39) probably benign Het
Other mutations in Aldh7a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02690:Aldh7a1 APN 18 56,661,427 (GRCm39) splice site probably benign
IGL02887:Aldh7a1 APN 18 56,675,288 (GRCm39) intron probably benign
R0462:Aldh7a1 UTSW 18 56,667,286 (GRCm39) splice site probably null
R0595:Aldh7a1 UTSW 18 56,679,965 (GRCm39) splice site probably benign
R0657:Aldh7a1 UTSW 18 56,670,269 (GRCm39) splice site probably benign
R0947:Aldh7a1 UTSW 18 56,693,910 (GRCm39) splice site probably null
R1295:Aldh7a1 UTSW 18 56,680,022 (GRCm39) critical splice acceptor site probably null
R1385:Aldh7a1 UTSW 18 56,675,357 (GRCm39) missense probably damaging 1.00
R1403:Aldh7a1 UTSW 18 56,692,341 (GRCm39) nonsense probably null
R1403:Aldh7a1 UTSW 18 56,692,341 (GRCm39) nonsense probably null
R1517:Aldh7a1 UTSW 18 56,665,133 (GRCm39) missense probably damaging 0.99
R1550:Aldh7a1 UTSW 18 56,683,454 (GRCm39) missense possibly damaging 0.49
R3552:Aldh7a1 UTSW 18 56,683,364 (GRCm39) splice site probably null
R3953:Aldh7a1 UTSW 18 56,681,577 (GRCm39) missense probably damaging 0.99
R4124:Aldh7a1 UTSW 18 56,670,395 (GRCm39) intron probably benign
R4296:Aldh7a1 UTSW 18 56,678,035 (GRCm39) critical splice donor site probably null
R4355:Aldh7a1 UTSW 18 56,681,566 (GRCm39) missense probably null 0.09
R4549:Aldh7a1 UTSW 18 56,665,066 (GRCm39) missense probably benign 0.09
R5288:Aldh7a1 UTSW 18 56,667,325 (GRCm39) missense possibly damaging 0.85
R5384:Aldh7a1 UTSW 18 56,667,325 (GRCm39) missense possibly damaging 0.85
R5385:Aldh7a1 UTSW 18 56,667,325 (GRCm39) missense possibly damaging 0.85
R5547:Aldh7a1 UTSW 18 56,661,356 (GRCm39) missense probably damaging 1.00
R6505:Aldh7a1 UTSW 18 56,660,068 (GRCm39) missense probably damaging 1.00
R7373:Aldh7a1 UTSW 18 56,675,389 (GRCm39) missense possibly damaging 0.48
R7861:Aldh7a1 UTSW 18 56,681,525 (GRCm39) missense probably benign 0.03
R8205:Aldh7a1 UTSW 18 56,678,070 (GRCm39) missense probably damaging 1.00
R8925:Aldh7a1 UTSW 18 56,660,060 (GRCm39) missense probably benign
R8927:Aldh7a1 UTSW 18 56,660,060 (GRCm39) missense probably benign
Z1177:Aldh7a1 UTSW 18 56,660,063 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- AAGATCAGGAGCTGTTAGTGTTTC -3'
(R):5'- GGCAGTTTACCTGGAAACGC -3'

Sequencing Primer
(F):5'- CTGGGCTTACTGTGATCTGGTC -3'
(R):5'- CAATTACGTGGAACCCAC -3'
Posted On 2016-03-01