Incidental Mutation 'IGL01479:Akr1c12'
ID88536
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Akr1c12
Ensembl Gene ENSMUSG00000021211
Gene Namealdo-keto reductase family 1, member C12
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.085) question?
Stock #IGL01479
Quality Score
Status
Chromosome13
Chromosomal Location4268176-4279433 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 4272935 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Arginine at position 225 (K225R)
Ref Sequence ENSEMBL: ENSMUSP00000021632 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021632]
Predicted Effect probably benign
Transcript: ENSMUST00000021632
AA Change: K225R

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000021632
Gene: ENSMUSG00000021211
AA Change: K225R

DomainStartEndE-ValueType
Pfam:Aldo_ket_red 18 301 1.1e-63 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Amn C A 12: 111,271,793 A47E probably damaging Het
Arhgef1 T C 7: 24,912,603 I137T probably benign Het
Cep57l1 T C 10: 41,728,639 K165E possibly damaging Het
Chfr A G 5: 110,144,993 probably benign Het
Dnah9 A G 11: 65,955,717 V2923A probably benign Het
Dnaja2 T C 8: 85,553,951 Y35C probably damaging Het
Dnajc2 T C 5: 21,757,893 T481A probably damaging Het
Foxred2 A G 15: 77,952,289 probably null Het
Gin1 C T 1: 97,792,372 T364I possibly damaging Het
Glt8d2 C T 10: 82,660,736 V163I probably damaging Het
Gm10118 T C 10: 63,926,820 probably benign Het
Hps5 C T 7: 46,762,942 probably null Het
Kdm4c A G 4: 74,343,501 K638E probably benign Het
L3mbtl2 A G 15: 81,676,392 T285A probably benign Het
Mab21l1 A G 3: 55,783,832 Y280C probably damaging Het
Mcoln2 T A 3: 146,175,652 probably benign Het
Myo9b G T 8: 71,359,342 R1926L probably damaging Het
Rrp12 A G 19: 41,865,202 V1251A probably benign Het
Rtn4rl1 A G 11: 75,265,342 D200G probably damaging Het
Sbsn G A 7: 30,752,357 A266T possibly damaging Het
Sgca A T 11: 94,963,378 C335* probably null Het
Spag1 T C 15: 36,233,199 probably benign Het
Sult6b1 A T 17: 78,905,576 V82D probably benign Het
Tigit T C 16: 43,659,522 T137A probably benign Het
Tmem125 G A 4: 118,541,623 Q204* probably null Het
Tmem59l C T 8: 70,486,098 R111Q probably benign Het
Vmn2r95 G A 17: 18,443,862 G448R probably damaging Het
Zfp64 T C 2: 168,951,679 H49R probably damaging Het
Other mutations in Akr1c12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01603:Akr1c12 APN 13 4272927 critical splice donor site probably null
IGL01935:Akr1c12 APN 13 4272245 missense probably damaging 0.99
IGL02066:Akr1c12 APN 13 4276237 missense probably damaging 0.96
IGL02224:Akr1c12 APN 13 4279290 missense probably damaging 0.98
IGL02277:Akr1c12 APN 13 4272269 missense probably damaging 1.00
IGL02425:Akr1c12 APN 13 4273750 missense probably damaging 1.00
IGL02884:Akr1c12 APN 13 4272212 missense possibly damaging 0.52
IGL02959:Akr1c12 APN 13 4279332 missense probably benign
IGL03075:Akr1c12 APN 13 4272255 missense probably damaging 1.00
R1216:Akr1c12 UTSW 13 4276323 missense probably benign 0.10
R1302:Akr1c12 UTSW 13 4272329 missense probably damaging 1.00
R1520:Akr1c12 UTSW 13 4276299 missense probably damaging 1.00
R2213:Akr1c12 UTSW 13 4276248 missense probably damaging 0.99
R3944:Akr1c12 UTSW 13 4279340 missense probably benign
R4671:Akr1c12 UTSW 13 4273817 missense possibly damaging 0.88
R6237:Akr1c12 UTSW 13 4275768 missense possibly damaging 0.51
R6266:Akr1c12 UTSW 13 4270207 missense probably benign
R6467:Akr1c12 UTSW 13 4275773 missense probably benign 0.10
R6826:Akr1c12 UTSW 13 4275734 missense probably benign 0.06
R6865:Akr1c12 UTSW 13 4270213 missense possibly damaging 0.79
R6874:Akr1c12 UTSW 13 4272960 missense probably benign 0.22
Posted On2013-11-18