Incidental Mutation 'IGL02935:Sox9'
ID364257
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sox9
Ensembl Gene ENSMUSG00000000567
Gene NameSRY (sex determining region Y)-box 9
Synonyms2010306G03Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02935
Quality Score
Status
Chromosome11
Chromosomal Location112782224-112787760 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 112785349 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Cysteine at position 455 (G455C)
Ref Sequence ENSEMBL: ENSMUSP00000000579 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000579]
Predicted Effect probably damaging
Transcript: ENSMUST00000000579
AA Change: G455C

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000000579
Gene: ENSMUSG00000000567
AA Change: G455C

DomainStartEndE-ValueType
Pfam:Sox_N 22 94 9.6e-29 PFAM
HMG 104 174 2.34e-27 SMART
low complexity region 186 196 N/A INTRINSIC
low complexity region 234 241 N/A INTRINSIC
low complexity region 339 377 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137081
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene recognizes the sequence CCTTGAG along with other members of the HMG-box class DNA-binding proteins. It acts during chondrocyte differentiation and, with steroidogenic factor 1, regulates transcription of the anti-Muellerian hormone (AMH) gene. Deficiencies lead to the skeletal malformation syndrome campomelic dysplasia, frequently with sex reversal. [provided by RefSeq, Jul 2008]
PHENOTYPE: Null mutant heterozygotes and conditional knockout mutants display perinatal lethality with cleft palate, hypoplasia and distortion of numerous cartilage-derived skeletal structures, and premature mineralization in many bones. Specific conditional knockout mutations are sex-reversed. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833439L19Rik G A 13: 54,561,862 P13L possibly damaging Het
A930016O22Rik A T 7: 19,420,413 probably benign Het
Ajuba A G 14: 54,570,467 F436S probably damaging Het
Bptf C A 11: 107,080,799 A961S probably damaging Het
Brca1 A G 11: 101,489,867 V1780A probably benign Het
Bub1 A G 2: 127,801,295 L1043S probably damaging Het
Cngb3 T A 4: 19,425,491 M433K possibly damaging Het
Col4a1 T C 8: 11,219,166 D928G probably damaging Het
Colq G A 14: 31,535,634 P259S probably damaging Het
Csmd1 T C 8: 16,223,334 Y828C probably damaging Het
Dennd5a T C 7: 109,921,307 R448G possibly damaging Het
Dip2c A G 13: 9,662,146 D1435G probably damaging Het
Dst T A 1: 34,186,845 L1188* probably null Het
Duox1 G T 2: 122,324,519 G462C possibly damaging Het
Flcn A T 11: 59,795,236 I402N possibly damaging Het
Fuca2 G A 10: 13,507,319 E344K probably null Het
Golim4 T C 3: 75,894,992 H331R possibly damaging Het
Grid1 A T 14: 34,822,558 I29F possibly damaging Het
Hltf T A 3: 20,069,051 F201Y probably damaging Het
Ipo8 A T 6: 148,789,841 I677N probably benign Het
Meioc A G 11: 102,672,191 T72A probably benign Het
Meox2 A T 12: 37,109,105 H92L probably damaging Het
Mlec C A 5: 115,157,814 R74L probably benign Het
Mrpl58 G A 11: 115,410,228 probably benign Het
Mtch1 T C 17: 29,336,210 D288G probably benign Het
Myo16 A G 8: 10,532,990 E1090G probably benign Het
Nicn1 A G 9: 108,290,646 N39S probably benign Het
Nlrp9c A G 7: 26,385,276 S293P probably benign Het
Olfr1042 G T 2: 86,160,370 probably benign Het
Olfr1344 G A 7: 6,440,754 V285M possibly damaging Het
Olfr66 T C 7: 103,881,664 N193S probably damaging Het
Pcdh20 T A 14: 88,467,002 probably benign Het
Peg3 C A 7: 6,711,129 V365F probably damaging Het
Penk A G 4: 4,133,843 F268S probably damaging Het
Pitrm1 T A 13: 6,553,264 Y116N probably damaging Het
Prex1 C A 2: 166,570,345 G389C probably damaging Het
Ptch2 C T 4: 117,114,770 A1163V probably damaging Het
Rasgrp3 G A 17: 75,497,070 V123I probably benign Het
Slc36a2 G T 11: 55,170,028 N185K possibly damaging Het
St6galnac1 G T 11: 116,769,345 D47E probably benign Het
Taar5 A T 10: 23,971,517 D271V probably damaging Het
Top3a A T 11: 60,762,528 I85K possibly damaging Het
Ttll8 T A 15: 88,914,556 M659L probably benign Het
Ythdc2 C T 18: 44,855,045 R656C probably damaging Het
Other mutations in Sox9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01916:Sox9 APN 11 112784674 missense probably benign 0.00
IGL02257:Sox9 APN 11 112784985 missense possibly damaging 0.84
R0350:Sox9 UTSW 11 112784876 missense probably damaging 0.99
R0634:Sox9 UTSW 11 112784942 missense probably damaging 0.98
R4273:Sox9 UTSW 11 112785154 missense possibly damaging 0.60
R4692:Sox9 UTSW 11 112782977 missense probably benign 0.01
R5328:Sox9 UTSW 11 112782658 missense probably benign 0.39
R5501:Sox9 UTSW 11 112783859 missense probably damaging 1.00
R5905:Sox9 UTSW 11 112783820 missense probably damaging 1.00
R6707:Sox9 UTSW 11 112782872 missense probably damaging 0.99
R6834:Sox9 UTSW 11 112784000 missense probably benign 0.01
R7897:Sox9 UTSW 11 112784809 missense probably benign 0.22
Z1176:Sox9 UTSW 11 112785122 missense possibly damaging 0.51
Z1177:Sox9 UTSW 11 112784803 missense possibly damaging 0.57
Posted On2015-12-18