Incidental Mutation 'R4512:Akr1c20'
ID 371129
Institutional Source Beutler Lab
Gene Symbol Akr1c20
Ensembl Gene ENSMUSG00000054757
Gene Name aldo-keto reductase family 1, member C20
Synonyms 2610528B18Rik
MMRRC Submission 041587-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4512 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 4536848-4573344 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 4557843 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 201 (V201G)
Ref Sequence ENSEMBL: ENSMUSP00000077363 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078239] [ENSMUST00000080361]
AlphaFold Q8VC77
Predicted Effect probably damaging
Transcript: ENSMUST00000078239
AA Change: V201G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000077363
Gene: ENSMUSG00000054757
AA Change: V201G

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: V228G

PolyPhen 2 Score 0.282 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000079232
Gene: ENSMUSG00000054757
AA Change: V228G

DomainStartEndE-ValueType
Pfam:Aldo_ket_red 18 301 2.8e-55 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000221564
AA Change: V200G
Meta Mutation Damage Score 0.5944 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.4%
Validation Efficiency 99% (67/68)
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 A T 5: 8,978,573 (GRCm39) D573V probably damaging Het
Adgrg5 T C 8: 95,660,652 (GRCm39) V93A possibly damaging Het
Alpk1 T C 3: 127,478,120 (GRCm39) probably benign Het
Aopep A T 13: 63,304,481 (GRCm39) T497S probably damaging Het
Atp6v1h T C 1: 5,168,358 (GRCm39) probably null Het
Aup1 C T 6: 83,033,368 (GRCm39) R248* probably null Het
BC016579 C A 16: 45,453,363 (GRCm39) A151S possibly damaging Het
Cenpn A G 8: 117,660,135 (GRCm39) Y68C probably damaging Het
Ces4a G A 8: 105,864,729 (GRCm39) G69S probably damaging Het
Chsy3 A G 18: 59,543,259 (GRCm39) D799G probably damaging Het
Dnah6 G A 6: 73,155,399 (GRCm39) R739W probably damaging Het
Dync2h1 A T 9: 7,085,009 (GRCm39) C553* probably null Het
Fhl4 A G 10: 84,934,578 (GRCm39) S68P possibly damaging Het
Gcc1 T C 6: 28,419,208 (GRCm39) E375G probably benign Het
Gm10110 A G 14: 90,135,151 (GRCm39) noncoding transcript Het
Hspbap1 C T 16: 35,607,611 (GRCm39) S39F probably damaging Het
Lmln G A 16: 32,908,507 (GRCm39) R311Q probably benign Het
Ly6e T A 15: 74,829,682 (GRCm39) V24D probably damaging Het
Magi3 T C 3: 103,996,871 (GRCm39) T225A probably damaging Het
Mark1 C A 1: 184,639,286 (GRCm39) R577L probably benign Het
Mlxip G T 5: 123,533,128 (GRCm39) V46L probably benign Het
Mrpl40 T C 16: 18,691,308 (GRCm39) D134G probably benign Het
Naip6 C T 13: 100,437,108 (GRCm39) A472T probably benign Het
Nalcn T C 14: 123,532,860 (GRCm39) Y1300C probably damaging Het
Nav3 T C 10: 109,529,943 (GRCm39) I2133V possibly damaging Het
Ndst3 T C 3: 123,465,315 (GRCm39) D219G probably damaging Het
Nfkbie C T 17: 45,867,165 (GRCm39) S100L probably benign Het
Oard1 A G 17: 48,723,788 (GRCm39) I145V probably benign Het
Odf2 C T 2: 29,816,109 (GRCm39) probably null Het
Oplah A G 15: 76,182,155 (GRCm39) L1035P probably damaging Het
Or4n4b C A 14: 50,536,453 (GRCm39) L104F probably damaging Het
Or51t4 T C 7: 102,597,945 (GRCm39) L81P probably damaging Het
Or5m3b T C 2: 85,871,913 (GRCm39) S85P probably damaging Het
Otud7a T C 7: 63,379,625 (GRCm39) F284L probably benign Het
Parg T C 14: 31,984,693 (GRCm39) V241A probably damaging Het
Pla2g4a T A 1: 149,736,802 (GRCm39) probably null Het
Psd4 C T 2: 24,292,901 (GRCm39) R684C probably damaging Het
Pttg1ip T C 10: 77,432,902 (GRCm39) probably benign Het
R3hcc1 A G 14: 69,936,060 (GRCm39) S250P probably damaging Het
Rere T A 4: 150,561,909 (GRCm39) Y272N unknown Het
Selplg A G 5: 113,957,124 (GRCm39) V394A probably benign Het
Senp7 T G 16: 55,986,246 (GRCm39) F559V probably damaging Het
Slc16a7 T G 10: 125,069,308 (GRCm39) probably null Het
Smim3 A T 18: 60,608,556 (GRCm39) V32D probably damaging Het
Spsb3 A G 17: 25,109,270 (GRCm39) D47G probably damaging Het
St6gal2 A T 17: 55,790,018 (GRCm39) N351Y probably benign Het
Stk11 T C 10: 79,962,211 (GRCm39) probably benign Het
Susd1 A T 4: 59,329,491 (GRCm39) L646Q possibly damaging Het
Tmprss11a A G 5: 86,576,437 (GRCm39) V138A probably benign Het
Ttn C A 2: 76,728,969 (GRCm39) probably benign Het
Ttn T C 2: 76,580,814 (GRCm39) K15033E probably damaging Het
Tyrp1 G T 4: 80,755,749 (GRCm39) D173Y probably damaging Het
Uncx A G 5: 139,532,522 (GRCm39) I196V possibly damaging Het
Vamp4 A T 1: 162,405,457 (GRCm39) D28V possibly damaging Het
Vmn2r78 C T 7: 86,569,452 (GRCm39) S115F probably benign Het
Zeb1 G A 18: 5,759,007 (GRCm39) C138Y probably damaging Het
Zfp985 G A 4: 147,668,020 (GRCm39) C296Y probably damaging Het
Other mutations in Akr1c20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00834:Akr1c20 APN 13 4,562,664 (GRCm39) critical splice donor site probably null
IGL01799:Akr1c20 APN 13 4,564,257 (GRCm39) splice site probably null
IGL01930:Akr1c20 APN 13 4,557,647 (GRCm39) intron probably benign
IGL02277:Akr1c20 APN 13 4,564,404 (GRCm39) missense probably benign 0.01
IGL02811:Akr1c20 APN 13 4,562,682 (GRCm39) missense possibly damaging 0.86
IGL03349:Akr1c20 APN 13 4,558,249 (GRCm39) nonsense probably null
R0165:Akr1c20 UTSW 13 4,573,295 (GRCm39) missense probably benign 0.02
R0193:Akr1c20 UTSW 13 4,561,292 (GRCm39) splice site probably benign
R0440:Akr1c20 UTSW 13 4,537,207 (GRCm39) missense probably benign 0.01
R1248:Akr1c20 UTSW 13 4,564,399 (GRCm39) missense possibly damaging 0.52
R1396:Akr1c20 UTSW 13 4,557,726 (GRCm39) missense probably damaging 1.00
R1735:Akr1c20 UTSW 13 4,537,207 (GRCm39) missense probably benign 0.00
R2325:Akr1c20 UTSW 13 4,573,295 (GRCm39) missense probably benign 0.02
R2359:Akr1c20 UTSW 13 4,573,276 (GRCm39) missense probably damaging 0.96
R2878:Akr1c20 UTSW 13 4,557,774 (GRCm39) missense probably damaging 1.00
R3712:Akr1c20 UTSW 13 4,560,222 (GRCm39) missense probably damaging 1.00
R4514:Akr1c20 UTSW 13 4,557,843 (GRCm39) missense probably damaging 1.00
R4544:Akr1c20 UTSW 13 4,557,843 (GRCm39) missense probably damaging 1.00
R4545:Akr1c20 UTSW 13 4,557,843 (GRCm39) missense probably damaging 1.00
R4781:Akr1c20 UTSW 13 4,558,174 (GRCm39) nonsense probably null
R5301:Akr1c20 UTSW 13 4,573,279 (GRCm39) missense probably damaging 1.00
R5826:Akr1c20 UTSW 13 4,560,222 (GRCm39) missense probably damaging 1.00
R7122:Akr1c20 UTSW 13 4,561,275 (GRCm39) missense probably benign 0.01
R7661:Akr1c20 UTSW 13 4,558,218 (GRCm39) missense probably benign 0.00
R7832:Akr1c20 UTSW 13 4,562,671 (GRCm39) missense probably damaging 1.00
R8914:Akr1c20 UTSW 13 4,561,215 (GRCm39) missense probably benign 0.04
R9764:Akr1c20 UTSW 13 4,564,388 (GRCm39) missense probably benign 0.04
Z1177:Akr1c20 UTSW 13 4,573,243 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- AGGACTATCAACAATGTATTTCGGG -3'
(R):5'- TTCCATGTACTGAAAATCCTGGC -3'

Sequencing Primer
(F):5'- CTGTGTAGGTGCCTAATACCCAAAG -3'
(R):5'- AATCCTGGCATATATATCAACCTTCC -3'
Posted On 2016-02-25