Incidental Mutation 'IGL02668:Sdr9c7'
ID302812
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: 0.065) question?
Stock #IGL02668
Quality Score
Status
Chromosome10
Chromosomal Location127898518-127911761 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 127902398 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 182 (F182L)
Ref Sequence ENSEMBL: ENSMUSP00000036628 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047134]
Predicted Effect probably damaging
Transcript: ENSMUST00000047134
AA Change: F182L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000036628
Gene: ENSMUSG00000040127
AA Change: F182L

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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930596D02Rik A G 14: 35,810,117 M167T probably benign Het
Abcc4 G T 14: 118,611,475 S488R probably damaging Het
Adprm G T 11: 67,040,247 D230E possibly damaging Het
Atp2a3 C A 11: 72,975,339 H262N probably benign Het
Casc1 G T 6: 145,205,257 R30S unknown Het
Ccdc66 T C 14: 27,497,341 K309E possibly damaging Het
Cyb561d2 C T 9: 107,540,172 A127T probably benign Het
Dctn1 T A 6: 83,191,048 M357K possibly damaging Het
Diras2 T C 13: 52,507,770 N167S probably benign Het
Dmgdh T G 13: 93,703,910 V283G probably damaging Het
Dmxl2 A T 9: 54,416,945 W1052R probably damaging Het
Dnah6 A T 6: 73,121,823 V2083D possibly damaging Het
Exoc4 T G 6: 33,921,532 F895L probably benign Het
Fsip1 G T 2: 118,251,725 A76E probably benign Het
Fsip2 A G 2: 82,998,318 I6820V probably benign Het
Hdac10 G A 15: 89,125,644 P395L probably benign Het
Ing3 A G 6: 21,950,059 D17G probably damaging Het
Map3k4 A T 17: 12,235,953 F1383L possibly damaging Het
Mpp6 C T 6: 50,194,529 T386I probably damaging Het
Myct1 C A 10: 5,604,513 P127T probably damaging Het
Olfr593 A T 7: 103,212,735 I281F possibly damaging Het
Osbpl7 G T 11: 97,067,205 A625S possibly damaging Het
Padi2 C T 4: 140,949,880 R660C probably benign Het
Paip1 A T 13: 119,438,071 I185F probably damaging Het
Phykpl G A 11: 51,593,687 probably null Het
Plekhg6 G A 6: 125,372,803 probably benign Het
Plxna1 A T 6: 89,357,269 L126* probably null Het
Rchy1 A T 5: 91,962,718 M1K probably null Het
Rfx3 T C 19: 27,815,614 probably benign Het
Sgpl1 A C 10: 61,105,450 V294G probably damaging Het
Sh2b1 A G 7: 126,472,474 S180P possibly damaging Het
Sorbs1 T C 19: 40,314,681 D488G probably damaging Het
Stab2 A G 10: 86,846,163 probably benign Het
Sycp1 A C 3: 102,820,531 probably benign Het
Tmem245 T C 4: 56,925,081 K347E possibly damaging Het
Tnk1 A G 11: 69,856,923 M51T probably damaging Het
Trpm2 C T 10: 77,935,942 R621H probably damaging Het
Ubd G T 17: 37,195,529 R102L probably benign Het
Uhrf1bp1 A C 17: 27,886,575 I692L possibly damaging Het
Vmn2r103 G T 17: 19,794,127 A394S probably benign Het
Zfp324 T A 7: 12,970,846 C321S probably damaging Het
Zfp488 G T 14: 33,970,820 Q129K probably benign Het
Zmpste24 T A 4: 121,061,100 N442Y probably damaging Het
Other mutations in Sdr9c7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00778:Sdr9c7 APN 10 127909828 missense probably damaging 1.00
IGL00857:Sdr9c7 APN 10 127898859 missense probably benign
IGL02280:Sdr9c7 APN 10 127902418 splice site probably benign
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
Posted On2015-04-16