Incidental Mutation 'IGL00778:Sdr9c7'
ID13943
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: 0.070) question?
Stock #IGL00778
Quality Score
Status
Chromosome10
Chromosomal Location127898518-127911761 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 127909828 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 270 (S270P)
Ref Sequence ENSEMBL: ENSMUSP00000036628 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047134]
Predicted Effect probably damaging
Transcript: ENSMUST00000047134
AA Change: S270P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000036628
Gene: ENSMUSG00000040127
AA Change: S270P

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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503E14Rik G A 14: 44,163,934 H152Y probably benign Het
Abca1 T C 4: 53,086,132 D457G probably benign Het
Atp8a1 T G 5: 67,659,903 K913N possibly damaging Het
Cd180 G A 13: 102,705,409 S321N probably benign Het
Cdc14b T C 13: 64,215,656 N264D probably damaging Het
Cenpf A T 1: 189,654,912 C1724S probably benign Het
Chil4 A G 3: 106,201,797 S397P probably benign Het
Clpb C T 7: 101,778,608 R387* probably null Het
Csgalnact2 A T 6: 118,126,272 M1K probably null Het
Enpp3 C A 10: 24,798,262 C380F probably damaging Het
Gtf3c1 G A 7: 125,667,374 R967W probably damaging Het
Hnrnpr T A 4: 136,339,545 D472E unknown Het
Klhl28 A T 12: 64,950,066 D500E probably damaging Het
Lmo7 C T 14: 101,910,885 probably benign Het
Mphosph8 A G 14: 56,674,443 I308V probably benign Het
Myo6 T A 9: 80,283,586 probably null Het
Nsmaf C T 4: 6,435,056 probably null Het
Padi6 T A 4: 140,727,623 I668L possibly damaging Het
Pigw A G 11: 84,877,324 I393T possibly damaging Het
Prg3 G A 2: 84,993,732 C212Y probably damaging Het
Pwp1 T C 10: 85,879,888 V267A probably benign Het
Raver2 C A 4: 101,096,271 Q79K probably benign Het
Sfmbt2 A G 2: 10,402,007 E39G probably damaging Het
Strada A G 11: 106,171,150 probably benign Het
Xrn1 T C 9: 95,973,447 probably benign Het
Zic3 A G X: 58,034,419 Y424C probably damaging Het
Other mutations in Sdr9c7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00857:Sdr9c7 APN 10 127898859 missense probably benign
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
R8228:Sdr9c7 UTSW 10 127898675 missense possibly damaging 0.94
Z1176:Sdr9c7 UTSW 10 127902381 missense probably damaging 1.00
Posted On2012-12-06