Incidental Mutation 'R6381:Sdr9c7'
ID 515324
Institutional Source Beutler Lab
Gene Symbol Sdr9c7
Ensembl Gene ENSMUSG00000040127
Gene Name 4short chain dehydrogenase/reductase family 9C, member 7
Synonyms Rdhs, 1810054F20Rik, Rdh20, Sdro, SDR-O
MMRRC Submission 044530-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.074) question?
Stock # R6381 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 127734404-127747630 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 127739542 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 219 (M219K)
Ref Sequence ENSEMBL: ENSMUSP00000036628 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047134]
AlphaFold Q8K3P0
Predicted Effect probably benign
Transcript: ENSMUST00000047134
AA Change: M219K

PolyPhen 2 Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000036628
Gene: ENSMUSG00000040127
AA Change: M219K

DomainStartEndE-ValueType
Pfam:adh_short 26 217 3.2e-41 PFAM
Pfam:adh_short_C2 32 226 1.6e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149849
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151614
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155067
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.2%
Validation Efficiency 97% (56/58)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with similarity to the short-chain dehydrogenase/reductase (SDR) family but has not been shown to have retinoid or dehydrogenase activities. [provided by RefSeq, Apr 2010]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503L19Rik T A 18: 70,600,788 (GRCm39) M365L probably damaging Het
Aars2 A G 17: 45,829,471 (GRCm39) E786G probably benign Het
Adamts12 G T 15: 11,257,080 (GRCm39) V478F possibly damaging Het
Akr1c21 T A 13: 4,624,183 (GRCm39) D12E probably damaging Het
Aplf A T 6: 87,635,959 (GRCm39) M118K probably damaging Het
Apobec1 A G 6: 122,555,890 (GRCm39) L189P probably damaging Het
BC061237 A G 14: 44,741,713 (GRCm39) Q152R possibly damaging Het
Bche A G 3: 73,609,132 (GRCm39) I98T probably benign Het
Cc2d2a G T 5: 43,873,118 (GRCm39) R983L possibly damaging Het
Ccnd3 T C 17: 47,816,149 (GRCm39) probably benign Het
Cd74 G T 18: 60,944,435 (GRCm39) C215F probably damaging Het
Cep97 C T 16: 55,742,534 (GRCm39) A138T probably damaging Het
Ces1e T A 8: 93,944,206 (GRCm39) N204I probably damaging Het
Dicer1 T C 12: 104,662,721 (GRCm39) D1620G probably benign Het
Dnah17 A G 11: 118,020,011 (GRCm39) V12A probably benign Het
Dstyk T A 1: 132,384,503 (GRCm39) probably null Het
Elapor1 T C 3: 108,389,130 (GRCm39) K222E possibly damaging Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Entr1 A G 2: 26,275,093 (GRCm39) probably null Het
Gm10570 G T 4: 130,202,021 (GRCm39) probably benign Het
Gm7145 C T 1: 117,913,669 (GRCm39) Q184* probably null Het
Gpat2 G C 2: 127,273,838 (GRCm39) G294R possibly damaging Het
Gtse1 G A 15: 85,746,349 (GRCm39) R55H probably benign Het
Hdac4 G T 1: 91,912,247 (GRCm39) Q381K possibly damaging Het
Ifit3b T C 19: 34,589,871 (GRCm39) I349T probably benign Het
Inpp5a A T 7: 138,980,589 (GRCm39) D9V probably benign Het
Irs1 T C 1: 82,265,405 (GRCm39) N937S possibly damaging Het
Kcna4 T C 2: 107,125,317 (GRCm39) M17T probably benign Het
Lipa T A 19: 34,502,146 (GRCm39) M33L probably benign Het
Marchf6 G T 15: 31,467,838 (GRCm39) Q790K probably benign Het
Mccc1 G A 3: 36,030,876 (GRCm39) P397S probably benign Het
Mrgprb2 T C 7: 48,202,138 (GRCm39) I196V probably benign Het
Myh15 T A 16: 48,921,844 (GRCm39) S463R probably damaging Het
Nab2 T C 10: 127,500,220 (GRCm39) K291E probably damaging Het
Neto2 T C 8: 86,369,138 (GRCm39) T294A probably damaging Het
Nkx1-1 T C 5: 33,591,320 (GRCm39) M1V probably null Het
Or2h2 C T 17: 37,396,977 (GRCm39) V27I probably benign Het
Pla2g4c C T 7: 13,077,933 (GRCm39) T357I probably benign Het
Psmd2 A G 16: 20,474,023 (GRCm39) E242G probably benign Het
Rnase12 A C 14: 51,294,551 (GRCm39) Y43D probably damaging Het
Rpl18 T A 7: 45,369,016 (GRCm39) F58I probably damaging Het
Ryr1 T G 7: 28,774,682 (GRCm39) M2313L possibly damaging Het
Scn4a G T 11: 106,211,137 (GRCm39) Q1627K probably damaging Het
Scnn1g A G 7: 121,366,722 (GRCm39) S640G probably benign Het
Soat1 A T 1: 156,263,373 (GRCm39) M392K probably damaging Het
Spata18 G T 5: 73,832,559 (GRCm39) K337N probably damaging Het
Supt16 A G 14: 52,417,003 (GRCm39) V325A probably benign Het
Syt2 A G 1: 134,674,588 (GRCm39) E342G probably damaging Het
Tars2 A T 3: 95,661,799 (GRCm39) L37* probably null Het
Tep1 T C 14: 51,082,888 (GRCm39) D1040G probably damaging Het
Tmc8 A T 11: 117,682,426 (GRCm39) S613C probably null Het
Top3a C T 11: 60,634,849 (GRCm39) C660Y probably damaging Het
Tpsg1 C T 17: 25,591,543 (GRCm39) R48C probably damaging Het
Vmn2r57 T C 7: 41,078,242 (GRCm39) N72S probably benign Het
Whrn G A 4: 63,390,921 (GRCm39) T269I probably benign Het
Zfp759 T A 13: 67,286,969 (GRCm39) Y173* probably null Het
Other mutations in Sdr9c7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00778:Sdr9c7 APN 10 127,745,697 (GRCm39) missense probably damaging 1.00
IGL00857:Sdr9c7 APN 10 127,734,728 (GRCm39) missense probably benign
IGL02280:Sdr9c7 APN 10 127,738,287 (GRCm39) splice site probably benign
IGL02668:Sdr9c7 APN 10 127,738,267 (GRCm39) missense probably damaging 0.99
R0047:Sdr9c7 UTSW 10 127,739,541 (GRCm39) missense probably benign
R0047:Sdr9c7 UTSW 10 127,739,541 (GRCm39) missense probably benign
R0325:Sdr9c7 UTSW 10 127,734,588 (GRCm39) missense probably benign 0.00
R0440:Sdr9c7 UTSW 10 127,734,822 (GRCm39) splice site probably benign
R1720:Sdr9c7 UTSW 10 127,738,127 (GRCm39) missense probably damaging 1.00
R1936:Sdr9c7 UTSW 10 127,739,503 (GRCm39) missense probably benign
R4790:Sdr9c7 UTSW 10 127,739,448 (GRCm39) missense possibly damaging 0.77
R5145:Sdr9c7 UTSW 10 127,738,259 (GRCm39) missense probably damaging 1.00
R5241:Sdr9c7 UTSW 10 127,745,659 (GRCm39) missense probably benign 0.43
R8024:Sdr9c7 UTSW 10 127,734,751 (GRCm39) missense probably benign 0.01
R8228:Sdr9c7 UTSW 10 127,734,544 (GRCm39) missense possibly damaging 0.94
R8939:Sdr9c7 UTSW 10 127,734,776 (GRCm39) missense probably benign
R9020:Sdr9c7 UTSW 10 127,745,659 (GRCm39) missense possibly damaging 0.94
Z1176:Sdr9c7 UTSW 10 127,738,250 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTCCCAGAAAGATAGGTCCTTCC -3'
(R):5'- TACACTGTGGCTCTGCAAC -3'

Sequencing Primer
(F):5'- GATAGGTCCTTCCAAAAGTGTCTCTG -3'
(R):5'- TGCAACGTGGGCTCTAATC -3'
Posted On 2018-05-04