Incidental Mutation 'R7879:Akr1c19'
ID608661
Institutional Source Beutler Lab
Gene Symbol Akr1c19
Ensembl Gene ENSMUSG00000071551
Gene Namealdo-keto reductase family 1, member C19
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R7879 (G1)
Quality Score225.009
Status Not validated
Chromosome13
Chromosomal Location4228700-4252843 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 4236224 bp
ZygosityHeterozygous
Amino Acid Change Valine to Methionine at position 74 (V74M)
Ref Sequence ENSEMBL: ENSMUSP00000080074 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081326] [ENSMUST00000118663]
Predicted Effect probably damaging
Transcript: ENSMUST00000081326
AA Change: V74M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000080074
Gene: ENSMUSG00000071551
AA Change: V74M

DomainStartEndE-ValueType
Pfam:Aldo_ket_red 18 301 1.4e-65 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000118663
AA Change: V74M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112666
Gene: ENSMUSG00000071551
AA Change: V74M

DomainStartEndE-ValueType
Pfam:Aldo_ket_red 18 301 9.9e-67 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930449I24Rik T C 5: 146,502,852 I81T probably benign Het
5430419D17Rik T A 7: 131,243,142 V588E probably damaging Het
Acnat2 G A 4: 49,383,299 P85S probably damaging Het
Alb C A 5: 90,472,648 T539K probably benign Het
B4galnt2 G A 11: 95,869,397 T268I possibly damaging Het
Bcl7b G A 5: 135,177,132 E58K possibly damaging Het
Calr3 C T 8: 72,424,643 S372N unknown Het
Cdh20 A T 1: 104,947,322 probably null Het
Cdh7 A C 1: 110,048,947 E114A probably benign Het
Cep70 A G 9: 99,262,633 R74G possibly damaging Het
Chrna6 A G 8: 27,407,081 F256S probably damaging Het
Cic A G 7: 25,285,126 T996A probably benign Het
Clstn2 A G 9: 97,469,764 V536A possibly damaging Het
Csmd1 A T 8: 16,391,806 M348K probably benign Het
Dnah11 A C 12: 118,041,009 D2192E probably damaging Het
Dnhd1 A G 7: 105,703,439 I2600V probably benign Het
Dock3 A C 9: 106,908,501 S185A probably benign Het
Dock4 A T 12: 40,730,084 D628V possibly damaging Het
Dzank1 A T 2: 144,491,798 S371T probably benign Het
Fam83b A T 9: 76,492,455 N455K possibly damaging Het
Fcrlb T C 1: 170,908,796 Y137C probably damaging Het
Gtf2i G A 5: 134,266,617 T327M possibly damaging Het
Hspa5 T A 2: 34,775,929 M595K probably benign Het
Htt C T 5: 34,823,908 A875V probably benign Het
Hvcn1 G A 5: 122,238,638 probably null Het
Igsf10 A G 3: 59,330,724 S679P probably damaging Het
Itsn2 A G 12: 4,701,265 H1285R probably benign Het
Kcnq4 T C 4: 120,702,435 T523A probably benign Het
Kif6 T A 17: 49,832,186 I562N probably benign Het
Klhl9 C A 4: 88,720,338 W555C probably damaging Het
Krt78 T C 15: 101,948,189 T423A probably benign Het
Mapk10 C T 5: 102,963,496 V391I probably benign Het
Noa1 T C 5: 77,297,197 M592V probably benign Het
Npy5r A G 8: 66,681,316 M275T possibly damaging Het
Nuak2 T A 1: 132,331,957 V499E probably benign Het
Olfr1269 A T 2: 90,118,841 C252* probably null Het
Olfr806 T C 10: 129,738,690 I76V probably benign Het
Otogl T C 10: 107,777,109 E2052G probably benign Het
Pard3b T A 1: 62,159,511 C253S possibly damaging Het
Pclo T C 5: 14,677,214 S2029P unknown Het
Plekhg3 A G 12: 76,565,569 I401M probably damaging Het
Polg A T 7: 79,450,644 C1140S probably benign Het
Prl7c1 A T 13: 27,778,834 L62H probably damaging Het
Psmf1 T A 2: 151,734,243 E115V probably benign Het
Ptpn9 A T 9: 57,056,726 N381I possibly damaging Het
Pzp A G 6: 128,489,016 S1234P probably benign Het
Qrich1 A G 9: 108,559,286 T728A possibly damaging Het
Ralgps2 C A 1: 156,829,066 A323S probably benign Het
Rimbp3 T C 16: 17,211,046 V778A possibly damaging Het
Scn1a A T 2: 66,286,005 L430* probably null Het
Sema7a A T 9: 57,955,080 I189F probably damaging Het
Slc22a8 T C 19: 8,594,022 I39T probably benign Het
Stap2 T C 17: 56,002,023 T115A probably benign Het
Stmn4 A G 14: 66,357,939 I138V probably benign Het
Suds3 C T 5: 117,098,270 probably null Het
Taf4 G A 2: 179,932,029 T682M probably damaging Het
Tet1 A C 10: 62,879,046 D323E probably benign Het
Tia1 A G 6: 86,424,365 D140G probably damaging Het
Trio C T 15: 27,851,924 R827H possibly damaging Het
Ttn A G 2: 76,795,053 probably null Het
Unc80 T C 1: 66,510,707 V708A probably benign Het
Vmn1r194 A T 13: 22,244,602 T130S probably benign Het
Wfikkn2 A G 11: 94,238,929 C129R probably damaging Het
Zkscan5 A C 5: 145,220,866 H726P probably damaging Het
Other mutations in Akr1c19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00663:Akr1c19 APN 13 4248129 utr 3 prime probably benign
IGL01522:Akr1c19 APN 13 4239099 splice site probably benign
IGL01625:Akr1c19 APN 13 4233817 missense probably damaging 1.00
IGL02863:Akr1c19 APN 13 4237113 nonsense probably null
IGL03094:Akr1c19 APN 13 4236185 missense probably benign 0.22
IGL03232:Akr1c19 APN 13 4238463 missense probably damaging 0.96
R0504:Akr1c19 UTSW 13 4236251 missense possibly damaging 0.83
R0538:Akr1c19 UTSW 13 4237100 missense probably damaging 1.00
R0607:Akr1c19 UTSW 13 4238460 missense probably benign 0.09
R2068:Akr1c19 UTSW 13 4238392 critical splice acceptor site probably null
R3701:Akr1c19 UTSW 13 4243033 missense probably damaging 1.00
R3893:Akr1c19 UTSW 13 4238442 missense probably damaging 1.00
R4369:Akr1c19 UTSW 13 4233780 nonsense probably null
R4434:Akr1c19 UTSW 13 4242616 missense probably benign 0.28
R5545:Akr1c19 UTSW 13 4242595 missense probably benign 0.01
R5584:Akr1c19 UTSW 13 4243032 missense probably damaging 1.00
R6988:Akr1c19 UTSW 13 4233758 start gained probably benign
R7286:Akr1c19 UTSW 13 4246819 missense probably damaging 1.00
R7365:Akr1c19 UTSW 13 4237070 missense probably benign 0.01
R8177:Akr1c19 UTSW 13 4242592 missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- AAGCTGTATGAGAATGACCTGG -3'
(R):5'- GTCTTTTCGTGCTGGAAATCATC -3'

Sequencing Primer
(F):5'- TGACAGTCAGATCCATTTATGCCAC -3'
(R):5'- GATCCAATCAAGTGAGTGTT -3'
Posted On2019-12-20