Incidental Mutation 'IGL01132:Aldh1a7'
ID53285
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aldh1a7
Ensembl Gene ENSMUSG00000024747
Gene Namealdehyde dehydrogenase family 1, subfamily A7
SynonymsAldh-pb, Ahd2-like
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.175) question?
Stock #IGL01132
Quality Score
Status
Chromosome19
Chromosomal Location20692953-20727562 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 20727040 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Arginine at position 30 (H30R)
Ref Sequence ENSEMBL: ENSMUSP00000025656 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025656]
Predicted Effect possibly damaging
Transcript: ENSMUST00000025656
AA Change: H30R

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000025656
Gene: ENSMUSG00000024747
AA Change: H30R

DomainStartEndE-ValueType
Pfam:Aldedh 29 492 2.5e-185 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,950,275 V124I probably damaging Het
Adcy6 T C 15: 98,597,851 N619S probably benign Het
Adgrf5 G T 17: 43,422,509 D75Y possibly damaging Het
Birc6 T C 17: 74,603,060 S1483P probably damaging Het
Cd209e T C 8: 3,851,274 T127A probably benign Het
Clmn T A 12: 104,774,551 probably null Het
Dcc A T 18: 71,682,174 Y376* probably null Het
Dscaml1 C T 9: 45,752,328 R1950* probably null Het
Eml2 A T 7: 19,200,539 S388C probably damaging Het
Ext2 C T 2: 93,791,073 M370I probably benign Het
Foxo1 C T 3: 52,345,159 R248W probably damaging Het
Gan T A 8: 117,196,444 probably benign Het
Klra1 A T 6: 130,364,274 C245* probably null Het
Myh10 A T 11: 68,768,268 M491L possibly damaging Het
Myrf A G 19: 10,223,205 Y343H probably damaging Het
Olfr1084 A T 2: 86,639,166 C181S probably benign Het
Olfr790 T C 10: 129,501,646 V254A probably damaging Het
Olfr859 G A 9: 19,808,654 S112N probably damaging Het
Oplah C T 15: 76,300,957 S852N probably benign Het
Prag1 T C 8: 36,146,357 V1021A probably damaging Het
Rassf4 C T 6: 116,659,607 probably benign Het
Sf3b3 T C 8: 110,842,781 I102V probably benign Het
Slc27a4 T C 2: 29,804,302 I46T probably benign Het
Slc5a12 T C 2: 110,597,822 V74A probably damaging Het
St5 A G 7: 109,570,005 probably null Het
Tas2r134 G T 2: 51,627,659 C50F probably damaging Het
Tcte1 G T 17: 45,539,862 A355S possibly damaging Het
Other mutations in Aldh1a7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00693:Aldh1a7 APN 19 20700046 missense probably damaging 1.00
IGL01630:Aldh1a7 APN 19 20696329 splice site probably benign
IGL01901:Aldh1a7 APN 19 20717739 missense probably damaging 0.99
IGL02324:Aldh1a7 APN 19 20727004 missense probably damaging 1.00
IGL02822:Aldh1a7 APN 19 20702266 missense possibly damaging 0.85
IGL03162:Aldh1a7 APN 19 20708281 missense probably benign 0.21
PIT4514001:Aldh1a7 UTSW 19 20702240 missense probably benign 0.07
R0125:Aldh1a7 UTSW 19 20727066 splice site probably benign
R0268:Aldh1a7 UTSW 19 20709502 critical splice acceptor site probably null
R0833:Aldh1a7 UTSW 19 20702243 missense probably damaging 1.00
R1665:Aldh1a7 UTSW 19 20727461 missense probably benign
R1709:Aldh1a7 UTSW 19 20715952 missense probably damaging 1.00
R1772:Aldh1a7 UTSW 19 20716019 missense probably damaging 1.00
R1917:Aldh1a7 UTSW 19 20727455 missense probably benign
R2570:Aldh1a7 UTSW 19 20699956 missense probably benign 0.35
R3778:Aldh1a7 UTSW 19 20719311 missense possibly damaging 0.70
R3832:Aldh1a7 UTSW 19 20708238 missense probably damaging 1.00
R3894:Aldh1a7 UTSW 19 20696398 nonsense probably null
R4601:Aldh1a7 UTSW 19 20715979 missense probably damaging 0.98
R4948:Aldh1a7 UTSW 19 20727010 missense possibly damaging 0.77
R5562:Aldh1a7 UTSW 19 20702264 nonsense probably null
R5606:Aldh1a7 UTSW 19 20722367 missense probably damaging 1.00
R5641:Aldh1a7 UTSW 19 20715929 missense probably benign 0.00
R5808:Aldh1a7 UTSW 19 20708197 missense possibly damaging 0.79
R6646:Aldh1a7 UTSW 19 20699911 missense possibly damaging 0.94
R6759:Aldh1a7 UTSW 19 20699956 missense possibly damaging 0.89
R7034:Aldh1a7 UTSW 19 20708178 missense possibly damaging 0.95
R7036:Aldh1a7 UTSW 19 20708178 missense possibly damaging 0.95
R7150:Aldh1a7 UTSW 19 20716018 missense probably damaging 1.00
R7255:Aldh1a7 UTSW 19 20714728 missense probably damaging 1.00
X0022:Aldh1a7 UTSW 19 20719315 missense probably benign 0.01
Posted On2013-06-21