Incidental Mutation 'R6469:Akr1c13'
ID 520286
Institutional Source Beutler Lab
Gene Symbol Akr1c13
Ensembl Gene ENSMUSG00000021213
Gene Name aldo-keto reductase family 1, member C13
Synonyms
MMRRC Submission 044602-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R6469 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 4241166-4255603 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 4246511 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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 null
Transcript: ENSMUST00000021634
SMART Domains Protein: ENSMUSP00000021634
Gene: ENSMUSG00000021213

DomainStartEndE-ValueType
Pfam:Aldo_ket_red 18 301 7.8e-63 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000128892
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140971
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.2%
  • 20x: 91.3%
Validation Efficiency 100% (43/43)
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T G 3: 137,772,736 (GRCm39) S642A probably damaging Het
Aadacl2 A T 3: 59,932,210 (GRCm39) T242S probably benign Het
Adprh T C 16: 38,270,671 (GRCm39) M45V probably benign Het
Ap3d1 A C 10: 80,547,992 (GRCm39) V900G probably benign Het
Bak1 G A 17: 27,240,293 (GRCm39) R125C probably damaging Het
Bmpr1b T C 3: 141,562,222 (GRCm39) T322A possibly damaging Het
Camsap3 T A 8: 3,653,941 (GRCm39) L521Q possibly damaging Het
Col6a6 A T 9: 105,575,890 (GRCm39) F2157I probably damaging Het
Dcun1d4 G A 5: 73,691,957 (GRCm39) M155I probably damaging Het
Diaph3 T C 14: 86,893,974 (GRCm39) S12G possibly damaging Het
Enpp5 G A 17: 44,396,155 (GRCm39) G356S probably damaging Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Fgb A T 3: 82,953,449 (GRCm39) L107* probably null Het
Ganab T C 19: 8,879,996 (GRCm39) probably null Het
Gba1 C T 3: 89,111,388 (GRCm39) P51L probably benign Het
Glb1l2 T C 9: 26,707,828 (GRCm39) D60G probably benign Het
Idh3b AG AGCACCACAACTG 2: 130,121,593 (GRCm39) probably null Het
Itih2 A G 2: 10,128,224 (GRCm39) V159A possibly damaging Het
Kif1b T C 4: 149,277,053 (GRCm39) M1337V probably benign Het
Lrch1 C T 14: 75,054,525 (GRCm39) R323Q probably damaging Het
Lrrc30 T C 17: 67,938,860 (GRCm39) N240S probably benign Het
Mrgpra9 T C 7: 46,884,854 (GRCm39) Y271C probably benign Het
Ncor1 T C 11: 62,234,128 (GRCm39) H682R probably damaging Het
Or14j4 A T 17: 37,921,204 (GRCm39) V146E probably damaging Het
Pax9 C A 12: 56,743,648 (GRCm39) F98L probably damaging Het
Phlpp1 G A 1: 106,214,833 (GRCm39) R585Q probably damaging Het
Prkdc A G 16: 15,612,939 (GRCm39) T3166A probably benign Het
Prr11 T A 11: 86,988,003 (GRCm39) Q300L possibly damaging Het
Rad50 T A 11: 53,575,062 (GRCm39) E620D probably benign Het
Rpl3 A T 15: 79,967,546 (GRCm39) probably null Het
Sacs G T 14: 61,428,697 (GRCm39) G252V probably damaging Het
Serpina3i T A 12: 104,232,776 (GRCm39) V227E probably damaging Het
Smap2 GACTCTAC GAC 4: 120,830,282 (GRCm39) probably benign Het
Snx19 T C 9: 30,339,039 (GRCm39) V59A possibly damaging Het
St3gal1 A G 15: 66,983,195 (GRCm39) V187A possibly damaging Het
Tcstv2c T A 13: 120,616,349 (GRCm39) W63R probably damaging Het
Tsc1 G A 2: 28,561,898 (GRCm39) probably null Het
Vmn2r61 C T 7: 41,915,283 (GRCm39) Q77* probably null Het
Wdr72 A G 9: 74,120,643 (GRCm39) H954R probably benign Het
Zbtb21 T C 16: 97,757,972 (GRCm39) M20V probably benign Het
Zkscan16 A T 4: 58,956,483 (GRCm39) D255V 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
R4626: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
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'- ATGCCTCACTCACTAATGGC -3'
(R):5'- ATATGACTCCTGTCCTGGGC -3'

Sequencing Primer
(F):5'- AGGGCTTAATCACTGAACTATCTCTC -3'
(R):5'- GTCCTGGGCCCTTCGTCATC -3'
Posted On 2018-06-06