Incidental Mutation 'IGL03155:Akr7a5'
ID411241
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Akr7a5
Ensembl Gene ENSMUSG00000028743
Gene Namealdo-keto reductase family 7, member A5 (aflatoxin aldehyde reductase)
Synonyms0610025K21Rik, Afar
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.170) question?
Stock #IGL03155
Quality Score
Status
Chromosome4
Chromosomal Location139310744-139318426 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to A at 139314526 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Stop codon at position 190 (C190*)
Ref Sequence ENSEMBL: ENSMUSP00000073459 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053862] [ENSMUST00000073787] [ENSMUST00000105801] [ENSMUST00000139840] [ENSMUST00000141007] [ENSMUST00000172747]
PDB Structure
MOUSE SUCCINIC SEMIALDEHYDE REDUCTASE, AKR7A5 [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000053862
SMART Domains Protein: ENSMUSP00000059772
Gene: ENSMUSG00000028744

DomainStartEndE-ValueType
CTNS 51 83 8.63e-4 SMART
transmembrane domain 132 149 N/A INTRINSIC
CTNS 197 228 1.15e-8 SMART
transmembrane domain 251 273 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000073787
AA Change: C190*
SMART Domains Protein: ENSMUSP00000073459
Gene: ENSMUSG00000028743
AA Change: C190*

DomainStartEndE-ValueType
low complexity region 3 21 N/A INTRINSIC
low complexity region 25 47 N/A INTRINSIC
Pfam:Aldo_ket_red 48 356 4.4e-54 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000105801
SMART Domains Protein: ENSMUSP00000101427
Gene: ENSMUSG00000028744

DomainStartEndE-ValueType
CTNS 51 83 8.63e-4 SMART
transmembrane domain 132 149 N/A INTRINSIC
CTNS 197 228 1.15e-8 SMART
transmembrane domain 251 273 N/A INTRINSIC
low complexity region 333 344 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000139840
SMART Domains Protein: ENSMUSP00000121362
Gene: ENSMUSG00000028744

DomainStartEndE-ValueType
CTNS 51 83 8.63e-4 SMART
transmembrane domain 132 149 N/A INTRINSIC
CTNS 197 228 1.15e-8 SMART
transmembrane domain 251 273 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000141007
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153645
Predicted Effect probably benign
Transcript: ENSMUST00000172747
SMART Domains Protein: ENSMUSP00000134464
Gene: ENSMUSG00000028744

DomainStartEndE-ValueType
CTNS 51 83 8.63e-4 SMART
transmembrane domain 132 149 N/A INTRINSIC
CTNS 197 228 1.15e-8 SMART
transmembrane domain 251 273 N/A INTRINSIC
Coding Region Coverage
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 belongs to the aldo/keto reductase (AKR) superfamily and AKR7 family, which are involved in the detoxification of aldehydes and ketones. The AKR7 family consists of 3 genes that are present in a cluster on the p arm of chromosome 1. This protein, thought to be localized in the golgi, catalyzes the NADPH-dependent reduction of succinic semialdehyde to the endogenous neuromodulator, gamma-hydroxybutyrate. It may also function as a detoxication enzyme in the reduction of aflatoxin B1 and 2-carboxybenzaldehyde. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adra1d C T 2: 131,546,081 R518H probably benign Het
Cct2 A T 10: 117,060,671 L209Q probably damaging Het
Chordc1 T A 9: 18,304,320 S123T possibly damaging Het
Crtap T C 9: 114,380,049 D309G possibly damaging Het
Csf2 T C 11: 54,247,671 T115A possibly damaging Het
Dgkb T A 12: 38,139,459 I287N probably damaging Het
Dyrk1b G A 7: 28,182,687 D98N probably benign Het
Eif4g1 T C 16: 20,692,417 S1550P probably damaging Het
Fam83e A G 7: 45,727,075 E404G possibly damaging Het
Fryl G A 5: 73,076,695 P1496S probably benign Het
Fsip1 A T 2: 118,251,739 N71K probably benign Het
Gm5092 A T 17: 21,094,708 noncoding transcript Het
Gnb1l T A 16: 18,540,532 probably null Het
Got1l1 T C 8: 27,199,332 Y233C probably damaging Het
Katnbl1 T A 2: 112,409,232 probably null Het
Kcnn2 A G 18: 45,685,315 E493G probably damaging Het
Kif26b C T 1: 178,874,128 R691W probably damaging Het
Lrp2 A T 2: 69,455,452 probably benign Het
Mast3 A G 8: 70,789,217 S107P probably damaging Het
Mrc1 A G 2: 14,331,101 N1433D probably benign Het
Mycbp2 G A 14: 103,155,453 S3114L probably benign Het
Naip6 T A 13: 100,316,424 H43L possibly damaging Het
Nin A T 12: 70,031,770 C1681S probably damaging Het
Nnmt C T 9: 48,592,052 V225M probably damaging Het
Olfr1233 A T 2: 89,339,966 M112K probably damaging Het
Olfr694 A T 7: 106,689,239 M164K probably damaging Het
Phf21a T G 2: 92,320,266 V64G probably damaging Het
Ptprd A T 4: 76,066,219 S800R possibly damaging Het
Scarf2 C T 16: 17,807,549 P823S probably benign Het
Scn5a T C 9: 119,512,182 T1212A possibly damaging Het
Slc38a10 C T 11: 120,105,119 V1043I probably damaging Het
Stxbp5 A T 10: 9,816,290 L370Q probably null Het
Tas1r2 T C 4: 139,669,156 V602A possibly damaging Het
Tatdn1 T C 15: 58,916,196 probably benign Het
Tdrd6 A T 17: 43,625,507 L1550Q probably damaging Het
Tet3 G T 6: 83,368,383 R1556S probably damaging Het
Tnpo2 T A 8: 85,045,080 I249N probably benign Het
Tnxb G T 17: 34,713,595 V2263F probably damaging Het
Trim75 C T 8: 64,983,340 V153M possibly damaging Het
Ttc21a T A 9: 119,943,976 probably null Het
Tuft1 T A 3: 94,634,514 I61L possibly damaging Het
Usp43 T C 11: 67,876,489 D680G probably damaging Het
Vac14 A G 8: 110,636,343 I274V possibly damaging Het
Vmn1r222 T A 13: 23,232,693 R117W probably damaging Het
Vmn1r83 T C 7: 12,321,690 M147V probably benign Het
Vmn2r43 T A 7: 8,255,069 I382L possibly damaging Het
Vmn2r63 C T 7: 42,903,454 V793I probably damaging Het
Vopp1 A G 6: 57,762,507 Y19H possibly damaging Het
Yeats2 T C 16: 20,229,573 probably null Het
Other mutations in Akr7a5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02156:Akr7a5 APN 4 139314269 missense probably damaging 1.00
IGL02469:Akr7a5 APN 4 139314181 missense probably damaging 1.00
R1403:Akr7a5 UTSW 4 139318123 missense probably damaging 0.99
R1403:Akr7a5 UTSW 4 139318123 missense probably damaging 0.99
R4288:Akr7a5 UTSW 4 139314104 missense probably benign 0.02
R4585:Akr7a5 UTSW 4 139310927 missense probably benign 0.09
R5067:Akr7a5 UTSW 4 139311022 missense probably damaging 1.00
R5293:Akr7a5 UTSW 4 139314206 missense probably benign 0.01
R6296:Akr7a5 UTSW 4 139318221 missense probably benign 0.25
Posted On2016-08-02