Incidental Mutation 'PIT4514001:Aldh1a7'
ID 556289
Institutional Source Beutler Lab
Gene Symbol Aldh1a7
Ensembl Gene ENSMUSG00000024747
Gene Name aldehyde dehydrogenase family 1, subfamily A7
Synonyms Aldh-pb, Ahd2-like
Accession Numbers
Essential gene? Probably non essential (E-score: 0.231) question?
Stock # PIT4514001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 20670318-20704920 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 20679604 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 391 (T391A)
Ref Sequence ENSEMBL: ENSMUSP00000025656 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025656]
AlphaFold O35945
Predicted Effect probably benign
Transcript: ENSMUST00000025656
AA Change: T391A

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000025656
Gene: ENSMUSG00000024747
AA Change: T391A

DomainStartEndE-ValueType
Pfam:Aldedh 29 492 2.5e-185 PFAM
Coding Region Coverage
  • 1x: 93.1%
  • 3x: 90.6%
  • 10x: 84.2%
  • 20x: 70.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930486L24Rik A G 13: 61,001,328 (GRCm39) probably null Het
Aadacl4fm2 T C 4: 144,282,081 (GRCm39) Y237C probably damaging Het
Abcc10 T A 17: 46,616,574 (GRCm39) I1247F probably benign Het
Acap3 G A 4: 155,987,835 (GRCm39) A524T probably benign Het
Adcy10 T A 1: 165,384,360 (GRCm39) N1040K probably benign Het
Adrb2 T C 18: 62,312,798 (GRCm39) D9G probably benign Het
Bcam A G 7: 19,497,991 (GRCm39) V344A probably benign Het
Birc7 T A 2: 180,573,099 (GRCm39) I172N possibly damaging Het
Cfap126 G A 1: 170,952,881 (GRCm39) D45N probably damaging Het
Cfap299 T A 5: 98,949,730 (GRCm39) H221Q probably benign Het
Cit G A 5: 116,135,913 (GRCm39) probably null Het
Col26a1 A G 5: 136,780,579 (GRCm39) V295A probably benign Het
Efcab15 T C 11: 103,091,960 (GRCm39) D27G probably benign Het
Epha7 C T 4: 28,961,355 (GRCm39) Q867* probably null Het
Fn1 A G 1: 71,667,615 (GRCm39) S793P probably benign Het
Foxb1 T A 9: 69,667,503 (GRCm39) Y9F probably damaging Het
Gpc1 T A 1: 92,785,279 (GRCm39) M406K probably benign Het
Gsg1 T C 6: 135,214,574 (GRCm39) T312A probably benign Het
Hmcn1 T A 1: 150,545,238 (GRCm39) I2790F possibly damaging Het
Kcnma1 C T 14: 23,359,103 (GRCm39) probably null Het
Lmntd1 AGACTGTAAGTTTCTCAAATGTGTACCTGGA AGA 6: 145,372,979 (GRCm39) probably null Het
Mcph1 A G 8: 18,681,906 (GRCm39) K348E probably damaging Het
Or10al6 T A 17: 38,082,758 (GRCm39) N71K probably damaging Het
Or8d4 T C 9: 40,038,595 (GRCm39) I221V probably damaging Het
Pik3cg T A 12: 32,254,902 (GRCm39) R362W probably damaging Het
Pkp3 T C 7: 140,669,623 (GRCm39) L765P probably damaging Het
Plxna2 A T 1: 194,477,245 (GRCm39) I1252F probably benign Het
Prpf8 T C 11: 75,387,181 (GRCm39) F1154S possibly damaging Het
Scn7a A G 2: 66,514,523 (GRCm39) F1084L probably damaging Het
Shmt1 G A 11: 60,695,173 (GRCm39) S47L probably damaging Het
Snap91 T C 9: 86,761,486 (GRCm39) K40R possibly damaging Het
Spag17 A T 3: 99,920,527 (GRCm39) T421S possibly damaging Het
Speer4f1 T A 5: 17,683,754 (GRCm39) N139K possibly damaging Het
Syne2 T G 12: 76,151,789 (GRCm39) N1883K probably damaging Het
Tgfb1i1 C T 7: 127,848,353 (GRCm39) R191C probably damaging Het
Tmem39b A C 4: 129,578,290 (GRCm39) N310K possibly damaging Het
Trim3 T C 7: 105,267,417 (GRCm39) T321A probably benign Het
Vmn2r124 T C 17: 18,293,974 (GRCm39) I687T probably benign Het
Zbtb8a T C 4: 129,251,523 (GRCm39) D316G probably benign Het
Zfp639 A G 3: 32,574,409 (GRCm39) I345V possibly damaging Het
Zfp764 T C 7: 127,003,913 (GRCm39) H406R probably benign Het
Other mutations in Aldh1a7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00693:Aldh1a7 APN 19 20,677,410 (GRCm39) missense probably damaging 1.00
IGL01132:Aldh1a7 APN 19 20,704,404 (GRCm39) missense possibly damaging 0.76
IGL01630:Aldh1a7 APN 19 20,673,693 (GRCm39) splice site probably benign
IGL01901:Aldh1a7 APN 19 20,695,103 (GRCm39) missense probably damaging 0.99
IGL02324:Aldh1a7 APN 19 20,704,368 (GRCm39) missense probably damaging 1.00
IGL02822:Aldh1a7 APN 19 20,679,630 (GRCm39) missense possibly damaging 0.85
IGL03162:Aldh1a7 APN 19 20,685,645 (GRCm39) missense probably benign 0.21
R0125:Aldh1a7 UTSW 19 20,704,430 (GRCm39) splice site probably benign
R0268:Aldh1a7 UTSW 19 20,686,866 (GRCm39) critical splice acceptor site probably null
R0833:Aldh1a7 UTSW 19 20,679,607 (GRCm39) missense probably damaging 1.00
R1665:Aldh1a7 UTSW 19 20,704,825 (GRCm39) missense probably benign
R1709:Aldh1a7 UTSW 19 20,693,316 (GRCm39) missense probably damaging 1.00
R1772:Aldh1a7 UTSW 19 20,693,383 (GRCm39) missense probably damaging 1.00
R1917:Aldh1a7 UTSW 19 20,704,819 (GRCm39) missense probably benign
R2570:Aldh1a7 UTSW 19 20,677,320 (GRCm39) missense probably benign 0.35
R3778:Aldh1a7 UTSW 19 20,696,675 (GRCm39) missense possibly damaging 0.70
R3832:Aldh1a7 UTSW 19 20,685,602 (GRCm39) missense probably damaging 1.00
R3894:Aldh1a7 UTSW 19 20,673,762 (GRCm39) nonsense probably null
R4601:Aldh1a7 UTSW 19 20,693,343 (GRCm39) missense probably damaging 0.98
R4948:Aldh1a7 UTSW 19 20,704,374 (GRCm39) missense possibly damaging 0.77
R5562:Aldh1a7 UTSW 19 20,679,628 (GRCm39) nonsense probably null
R5606:Aldh1a7 UTSW 19 20,699,731 (GRCm39) missense probably damaging 1.00
R5641:Aldh1a7 UTSW 19 20,693,293 (GRCm39) missense probably benign 0.00
R5808:Aldh1a7 UTSW 19 20,685,561 (GRCm39) missense possibly damaging 0.79
R6646:Aldh1a7 UTSW 19 20,677,275 (GRCm39) missense possibly damaging 0.94
R6759:Aldh1a7 UTSW 19 20,677,320 (GRCm39) missense possibly damaging 0.89
R7034:Aldh1a7 UTSW 19 20,685,542 (GRCm39) missense possibly damaging 0.95
R7036:Aldh1a7 UTSW 19 20,685,542 (GRCm39) missense possibly damaging 0.95
R7150:Aldh1a7 UTSW 19 20,693,382 (GRCm39) missense probably damaging 1.00
R7255:Aldh1a7 UTSW 19 20,692,092 (GRCm39) missense probably damaging 1.00
R7875:Aldh1a7 UTSW 19 20,693,343 (GRCm39) missense possibly damaging 0.90
R7964:Aldh1a7 UTSW 19 20,693,406 (GRCm39) missense probably benign 0.05
R7964:Aldh1a7 UTSW 19 20,677,371 (GRCm39) missense probably damaging 0.99
R7984:Aldh1a7 UTSW 19 20,686,764 (GRCm39) missense probably damaging 0.98
R8547:Aldh1a7 UTSW 19 20,692,067 (GRCm39) missense possibly damaging 0.93
X0022:Aldh1a7 UTSW 19 20,696,679 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TTCCTCAGTGCTCAGTCGTG -3'
(R):5'- TCACCTGCTTTGAATGACCAG -3'

Sequencing Primer
(F):5'- AGTGCTCAGTCGTGCTCAC -3'
(R):5'- GAATATCCTGGCATTTTTGACGC -3'
Posted On 2019-06-07