Incidental Mutation 'IGL00857:Sdr9c7'
ID13944
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sdr9c7
Ensembl Gene ENSMUSG00000040127
Gene Name4short chain dehydrogenase/reductase family 9C, member 7
SynonymsSdro, SDR-O, Rdhs, 1810054F20Rik, Rdh20
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.068) question?
Stock #IGL00857
Quality Score
Status
Chromosome10
Chromosomal Location127898518-127911761 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 127898859 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Arginine at position 72 (Q72R)
Ref Sequence ENSEMBL: ENSMUSP00000036628 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047134]
Predicted Effect probably benign
Transcript: ENSMUST00000047134
AA Change: Q72R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000036628
Gene: ENSMUSG00000040127
AA Change: Q72R

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
Validation Efficiency
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
8030411F24Rik A G 2: 148,782,250 D48G possibly damaging Het
Acr A G 15: 89,570,002 T181A probably benign Het
Anks3 T A 16: 4,953,929 H77L possibly damaging Het
Cacna1d A T 14: 30,350,681 N112K possibly damaging Het
Cd164 A G 10: 41,528,695 T150A probably benign Het
Cfap57 C T 4: 118,612,923 probably null Het
Cntnap2 C A 6: 47,049,424 N61K probably benign Het
Cyp4f39 A G 17: 32,489,657 I393V probably benign Het
Dcaf11 A T 14: 55,561,285 probably benign Het
Defb7 G A 8: 19,497,578 R33Q possibly damaging Het
Dmxl2 T C 9: 54,376,320 Y2743C probably benign Het
Enpp2 A G 15: 54,875,650 probably null Het
Fam135b T A 15: 71,463,616 E576D probably benign Het
Fam46a C A 9: 85,324,753 V331L possibly damaging Het
Gfpt1 T A 6: 87,056,163 N123K probably damaging Het
Hnmt T C 2: 24,003,783 D233G probably benign Het
Hsd3b2 T A 3: 98,711,543 E362V possibly damaging Het
Hsdl2 T A 4: 59,617,735 N487K probably benign Het
Hspa14 T C 2: 3,502,759 Y83C probably damaging Het
Itm2b T C 14: 73,364,616 N214S probably benign Het
Krt86 C T 15: 101,473,860 H104Y probably benign Het
Myocd A T 11: 65,178,836 V726D possibly damaging Het
Ncapg T A 5: 45,676,585 probably null Het
Nrd1 A T 4: 109,054,002 I774F probably damaging Het
Pot1a T C 6: 25,744,628 I626V probably benign Het
Prkab2 C T 3: 97,662,343 A75V possibly damaging Het
Slc16a7 A C 10: 125,230,934 Y279D probably benign Het
Slc8a1 T A 17: 81,647,879 T577S probably benign Het
Slitrk3 G A 3: 73,049,841 L533F probably damaging Het
Tmeff1 T C 4: 48,610,435 V102A probably damaging Het
Ttn G A 2: 76,752,755 T22598I probably damaging Het
Ube4a C A 9: 44,932,386 G977W probably damaging Het
Other mutations in Sdr9c7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00778:Sdr9c7 APN 10 127909828 missense probably damaging 1.00
IGL02280:Sdr9c7 APN 10 127902418 splice site probably benign
IGL02668:Sdr9c7 APN 10 127902398 missense probably damaging 0.99
R0047:Sdr9c7 UTSW 10 127903672 missense probably benign
R0047:Sdr9c7 UTSW 10 127903672 missense probably benign
R0325:Sdr9c7 UTSW 10 127898719 missense probably benign 0.00
R0440:Sdr9c7 UTSW 10 127898953 splice site probably benign
R1720:Sdr9c7 UTSW 10 127902258 missense probably damaging 1.00
R1936:Sdr9c7 UTSW 10 127903634 missense probably benign
R4790:Sdr9c7 UTSW 10 127903579 missense possibly damaging 0.77
R5145:Sdr9c7 UTSW 10 127902390 missense probably damaging 1.00
R5241:Sdr9c7 UTSW 10 127909790 missense probably benign 0.43
R6381:Sdr9c7 UTSW 10 127903673 missense probably benign 0.25
R8024:Sdr9c7 UTSW 10 127898882 missense probably benign 0.01
Z1176:Sdr9c7 UTSW 10 127902381 missense probably damaging 1.00
Posted On2012-12-06