Incidental Mutation 'IGL02277:Akr1c20'
ID287362
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Akr1c20
Ensembl Gene ENSMUSG00000054757
Gene Namealdo-keto reductase family 1, member C20
Synonyms2610528B18Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02277
Quality Score
Status
Chromosome13
Chromosomal Location4486849-4523345 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 4514405 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 36 (E36D)
Ref Sequence ENSEMBL: ENSMUSP00000077363 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078239] [ENSMUST00000080361]
Predicted Effect probably benign
Transcript: ENSMUST00000078239
AA Change: E36D

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000077363
Gene: ENSMUSG00000054757
AA Change: E36D

DomainStartEndE-ValueType
Pfam:Aldo_ket_red 18 98 4.7e-12 PFAM
Pfam:Aldo_ket_red 87 260 6e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000080361
AA Change: E36D

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000079232
Gene: ENSMUSG00000054757
AA Change: E36D

DomainStartEndE-ValueType
Pfam:Aldo_ket_red 18 301 2.8e-55 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000221564
AA Change: E35D
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik C T 9: 57,258,425 G222D probably benign Het
Abcc6 T C 7: 46,001,061 D625G probably benign Het
Akr1c12 C T 13: 4,272,269 R258Q probably damaging Het
Csn2 A G 5: 87,698,022 probably benign Het
Dennd5a T C 7: 109,897,969 I1084V possibly damaging Het
Dlg1 A G 16: 31,790,264 I259V probably damaging Het
Dpysl5 A G 5: 30,788,781 I344V probably damaging Het
Fcrl6 A G 1: 172,599,119 C87R probably damaging Het
Fras1 A G 5: 96,588,118 E524G probably benign Het
Gabpb2 A G 3: 95,189,284 V270A probably benign Het
Gm5591 T C 7: 38,520,432 D339G probably damaging Het
Gm5591 T A 7: 38,519,038 I804F possibly damaging Het
Ighv2-5 T A 12: 113,685,507 T109S possibly damaging Het
Ints4 T A 7: 97,487,458 L119Q probably damaging Het
Kansl3 A T 1: 36,348,947 D386E possibly damaging Het
Kdm3b A T 18: 34,823,664 H1224L probably damaging Het
Macf1 C A 4: 123,486,704 R1523L probably damaging Het
Myo1f A G 17: 33,579,861 probably null Het
Nup188 A G 2: 30,326,511 T776A possibly damaging Het
Olfr1305 T A 2: 111,873,580 I92F possibly damaging Het
Olfr1373 T A 11: 52,145,362 H56L probably damaging Het
Olfr357 G A 2: 36,997,184 probably null Het
Plxnb1 T A 9: 109,112,133 L1660Q probably damaging Het
Ppp1r17 A G 6: 56,026,138 D71G probably damaging Het
Ptprt T C 2: 161,547,381 Q1264R probably damaging Het
Rgl3 C T 9: 21,974,109 V642M probably damaging Het
Slc26a2 T C 18: 61,198,980 T460A probably damaging Het
Smtnl2 T A 11: 72,391,373 M395L probably damaging Het
St3gal5 A T 6: 72,142,200 T99S possibly damaging Het
Unc5b T C 10: 60,774,742 N421S probably benign Het
Zcchc17 G A 4: 130,327,221 T179M probably benign Het
Zfp369 T C 13: 65,284,932 S79P probably damaging Het
Other mutations in Akr1c20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00834:Akr1c20 APN 13 4512665 critical splice donor site probably null
IGL01799:Akr1c20 APN 13 4514258 splice site probably null
IGL01930:Akr1c20 APN 13 4507648 intron probably benign
IGL02811:Akr1c20 APN 13 4512683 missense possibly damaging 0.86
IGL03349:Akr1c20 APN 13 4508250 nonsense probably null
R0165:Akr1c20 UTSW 13 4523296 missense probably benign 0.02
R0193:Akr1c20 UTSW 13 4511293 splice site probably benign
R0440:Akr1c20 UTSW 13 4487208 missense probably benign 0.01
R1248:Akr1c20 UTSW 13 4514400 missense possibly damaging 0.52
R1396:Akr1c20 UTSW 13 4507727 missense probably damaging 1.00
R1735:Akr1c20 UTSW 13 4487208 missense probably benign 0.00
R2325:Akr1c20 UTSW 13 4523296 missense probably benign 0.02
R2359:Akr1c20 UTSW 13 4523277 missense probably damaging 0.96
R2878:Akr1c20 UTSW 13 4507775 missense probably damaging 1.00
R3712:Akr1c20 UTSW 13 4510223 missense probably damaging 1.00
R4512:Akr1c20 UTSW 13 4507844 missense probably damaging 1.00
R4514:Akr1c20 UTSW 13 4507844 missense probably damaging 1.00
R4544:Akr1c20 UTSW 13 4507844 missense probably damaging 1.00
R4545:Akr1c20 UTSW 13 4507844 missense probably damaging 1.00
R4781:Akr1c20 UTSW 13 4508175 nonsense probably null
R5301:Akr1c20 UTSW 13 4523280 missense probably damaging 1.00
R5826:Akr1c20 UTSW 13 4510223 missense probably damaging 1.00
R7122:Akr1c20 UTSW 13 4511276 missense probably benign 0.01
R7661:Akr1c20 UTSW 13 4508219 missense probably benign 0.00
R7832:Akr1c20 UTSW 13 4512672 missense probably damaging 1.00
R7915:Akr1c20 UTSW 13 4512672 missense probably damaging 1.00
Z1177:Akr1c20 UTSW 13 4523244 missense probably benign
Posted On2015-04-16