Incidental Mutation 'R4626:Akr1c13'
ID 348796
Institutional Source Beutler Lab
Gene Symbol Akr1c13
Ensembl Gene ENSMUSG00000021213
Gene Name aldo-keto reductase family 1, member C13
Synonyms
MMRRC Submission 041891-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R4626 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 4241166-4255603 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 4247869 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 214 (V214F)
Ref Sequence ENSEMBL: ENSMUSP00000021634 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021634] [ENSMUST00000128892]
AlphaFold Q8VC28
PDB Structure Crystal structure of Putative reductase (NP_038806.2) from MUS MUSCULUS at 1.18 A resolution [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000021634
AA Change: V214F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021634
Gene: ENSMUSG00000021213
AA Change: V214F

DomainStartEndE-ValueType
Pfam:Aldo_ket_red 18 301 7.8e-63 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000128892
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140971
Meta Mutation Damage Score 0.6398 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatf A C 11: 84,313,784 (GRCm39) *527G probably null Het
Abca17 A T 17: 24,540,058 (GRCm39) I390N probably damaging Het
Adamts18 C T 8: 114,499,800 (GRCm39) W371* probably null Het
Alkbh2 C T 5: 114,262,287 (GRCm39) E148K probably damaging Het
Ankrd49 A C 9: 14,693,936 (GRCm39) L77R probably damaging Het
Ap3b1 T A 13: 94,540,586 (GRCm39) N169K possibly damaging Het
Arhgap39 A C 15: 76,621,837 (GRCm39) F255V possibly damaging Het
Atp1a3 T A 7: 24,698,193 (GRCm39) N171I possibly damaging Het
Atp9a T C 2: 168,481,863 (GRCm39) D953G probably damaging Het
Atxn1 T C 13: 45,720,575 (GRCm39) Y440C probably damaging Het
Bccip T C 7: 133,322,457 (GRCm39) Y268H possibly damaging Het
Brms1l C A 12: 55,909,958 (GRCm39) P243T probably benign Het
Btbd10 T C 7: 112,927,605 (GRCm39) E250G probably damaging Het
Cacna1e T C 1: 154,358,294 (GRCm39) probably null Het
Cfhr2 A T 1: 139,741,314 (GRCm39) N220K probably damaging Het
Csnk1g2 C A 10: 80,475,648 (GRCm39) A405E probably damaging Het
D5Ertd579e T C 5: 36,771,903 (GRCm39) I831V possibly damaging Het
F2 T A 2: 91,461,015 (GRCm39) N239I probably benign Het
Fbln5 T A 12: 101,727,086 (GRCm39) D301V probably damaging Het
Fbn2 A T 18: 58,146,819 (GRCm39) C2692* probably null Het
Fhdc1 C T 3: 84,381,557 (GRCm39) D34N probably damaging Het
Galnt13 T A 2: 54,747,878 (GRCm39) M253K probably damaging Het
Gpc6 C A 14: 118,202,255 (GRCm39) Y488* probably null Het
Grm5 G T 7: 87,779,361 (GRCm39) G934C probably damaging Het
Gys1 T C 7: 45,088,958 (GRCm39) L119S probably damaging Het
H2-T15 CTGGGTG CTG 17: 36,368,788 (GRCm39) probably null Het
Htra4 T C 8: 25,527,130 (GRCm39) N222D probably benign Het
Iba57 A G 11: 59,049,287 (GRCm39) V294A probably benign Het
Kctd21 A G 7: 96,996,782 (GRCm39) D85G probably damaging Het
Krt1 C T 15: 101,754,622 (GRCm39) G543S unknown Het
Lama5 G A 2: 179,826,253 (GRCm39) T2330M probably damaging Het
Lrguk G A 6: 34,106,158 (GRCm39) E728K probably benign Het
Mcm6 T C 1: 128,279,285 (GRCm39) D167G probably benign Het
Mettl18 T A 1: 163,824,045 (GRCm39) V122E probably damaging Het
Mindy2 G A 9: 70,534,063 (GRCm39) S378L probably damaging Het
Mis18bp1 G T 12: 65,187,540 (GRCm39) F854L probably damaging Het
Mtdh C T 15: 34,114,980 (GRCm39) R106* probably null Het
Nup214 T A 2: 31,923,416 (GRCm39) V1315E possibly damaging Het
Nup58 A G 14: 60,476,004 (GRCm39) V271A probably benign Het
Or1j1 A G 2: 36,702,271 (GRCm39) Y278H probably damaging Het
Or4c101 T C 2: 88,390,176 (GRCm39) V121A possibly damaging Het
Or6f2 T C 7: 139,756,359 (GRCm39) S109P probably damaging Het
Orc5 G T 5: 22,753,003 (GRCm39) F10L probably benign Het
Pcdha11 A T 18: 37,140,051 (GRCm39) N560I probably damaging Het
Pcdhb9 T A 18: 37,535,302 (GRCm39) F432Y probably benign Het
Peg10 GGATCC GGATCCCCATCAAGATCC 6: 4,756,460 (GRCm39) probably benign Het
Poll C A 19: 45,543,563 (GRCm39) M385I probably benign Het
Pomt1 A G 2: 32,144,424 (GRCm39) K737E possibly damaging Het
Prr16 C T 18: 51,435,911 (GRCm39) T130I probably damaging Het
Ptpn18 A G 1: 34,510,873 (GRCm39) probably null Het
Ranbp6 A T 19: 29,788,263 (GRCm39) Y696* probably null Het
Rmi1 A G 13: 58,556,950 (GRCm39) R400G probably benign Het
Scn10a A G 9: 119,460,571 (GRCm39) I1101T possibly damaging Het
Slc22a22 T C 15: 57,126,734 (GRCm39) T93A probably damaging Het
Snx10 A G 6: 51,565,270 (GRCm39) D129G probably damaging Het
Stub1 A G 17: 26,050,845 (GRCm39) probably null Het
Tfr2 T C 5: 137,569,954 (GRCm39) V120A probably benign Het
Trmu T C 15: 85,779,186 (GRCm39) Y278H possibly damaging Het
Ugt2b36 A C 5: 87,239,947 (GRCm39) F146C probably damaging Het
Vav2 T C 2: 27,160,172 (GRCm39) I692V possibly damaging Het
Wdfy3 A G 5: 102,091,800 (GRCm39) L513P probably damaging Het
Zfhx4 T A 3: 5,467,699 (GRCm39) V2619D probably damaging Het
Zfyve26 T A 12: 79,315,844 (GRCm39) N1211Y possibly damaging Het
Zp3r A G 1: 130,542,912 (GRCm39) F142L probably damaging Het
Other mutations in Akr1c13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01387:Akr1c13 APN 13 4,247,794 (GRCm39) splice site probably null
IGL01553:Akr1c13 APN 13 4,244,774 (GRCm39) missense probably damaging 1.00
IGL01895:Akr1c13 APN 13 4,255,372 (GRCm39) missense possibly damaging 0.53
IGL02029:Akr1c13 APN 13 4,255,361 (GRCm39) nonsense probably null
IGL02316:Akr1c13 APN 13 4,253,458 (GRCm39) unclassified probably benign
IGL02949:Akr1c13 APN 13 4,248,593 (GRCm39) missense probably damaging 0.99
R0050:Akr1c13 UTSW 13 4,244,669 (GRCm39) splice site probably benign
R0184:Akr1c13 UTSW 13 4,244,055 (GRCm39) missense probably damaging 0.98
R0470:Akr1c13 UTSW 13 4,248,500 (GRCm39) missense probably damaging 1.00
R0722:Akr1c13 UTSW 13 4,247,931 (GRCm39) splice site probably null
R0791:Akr1c13 UTSW 13 4,244,111 (GRCm39) missense probably damaging 1.00
R0792:Akr1c13 UTSW 13 4,244,111 (GRCm39) missense probably damaging 1.00
R2106:Akr1c13 UTSW 13 4,248,593 (GRCm39) missense probably damaging 0.99
R2509:Akr1c13 UTSW 13 4,248,583 (GRCm39) missense probably damaging 1.00
R4624:Akr1c13 UTSW 13 4,247,869 (GRCm39) missense probably damaging 1.00
R4627:Akr1c13 UTSW 13 4,247,869 (GRCm39) missense probably damaging 1.00
R4628:Akr1c13 UTSW 13 4,247,869 (GRCm39) missense probably damaging 1.00
R4629:Akr1c13 UTSW 13 4,247,869 (GRCm39) missense probably damaging 1.00
R4764:Akr1c13 UTSW 13 4,248,496 (GRCm39) missense probably benign 0.05
R5112:Akr1c13 UTSW 13 4,244,151 (GRCm39) missense possibly damaging 0.70
R5149:Akr1c13 UTSW 13 4,244,168 (GRCm39) missense probably benign 0.10
R5203:Akr1c13 UTSW 13 4,247,896 (GRCm39) nonsense probably null
R5408:Akr1c13 UTSW 13 4,244,715 (GRCm39) missense probably benign 0.00
R5776:Akr1c13 UTSW 13 4,244,186 (GRCm39) missense probably damaging 1.00
R6469:Akr1c13 UTSW 13 4,246,511 (GRCm39) critical splice donor site probably null
R7466:Akr1c13 UTSW 13 4,242,436 (GRCm39) critical splice donor site probably benign
R9080:Akr1c13 UTSW 13 4,241,172 (GRCm39) unclassified probably benign
X0020:Akr1c13 UTSW 13 4,253,450 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- GAATGCTCCCAAGTTAGTTCTTTTGTC -3'
(R):5'- TAGACAGCCCATTCTAGCCCAG -3'

Sequencing Primer
(F):5'- CCAAGTTAGTTCTTTTGTCCTTCAAG -3'
(R):5'- TGACGTGAGAAGACCCATTTC -3'
Posted On 2015-10-08