Incidental Mutation 'R0350:Sox9'
ID 29663
Institutional Source Beutler Lab
Gene Symbol Sox9
Ensembl Gene ENSMUSG00000000567
Gene Name SRY (sex determining region Y)-box 9
Synonyms 2010306G03Rik
MMRRC Submission 038557-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0350 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 112673050-112678586 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 112675702 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 297 (Y297C)
Ref Sequence ENSEMBL: ENSMUSP00000000579 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000579]
AlphaFold Q04887
Predicted Effect probably damaging
Transcript: ENSMUST00000000579
AA Change: Y297C

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000000579
Gene: ENSMUSG00000000567
AA Change: Y297C

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
  • 1x: 99.0%
  • 3x: 97.9%
  • 10x: 95.2%
  • 20x: 89.2%
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd13 T A 8: 10,037,600 (GRCm39) Y66N probably damaging Het
Apol6 C T 15: 76,935,147 (GRCm39) Q139* probably null Het
Armh1 C A 4: 117,072,753 (GRCm39) E244* probably null Het
Cd1d1 A T 3: 86,904,880 (GRCm39) H219Q probably benign Het
Cdca2 A G 14: 67,950,568 (GRCm39) L121P probably benign Het
Cdin1 T C 2: 115,607,411 (GRCm39) Y255H possibly damaging Het
Cog4 T A 8: 111,580,328 (GRCm39) L133I possibly damaging Het
Csf1 T C 3: 107,655,922 (GRCm39) M370V probably benign Het
Ddi2 G A 4: 141,412,834 (GRCm39) T26M probably benign Het
Dhcr7 A G 7: 143,391,507 (GRCm39) D32G probably damaging Het
Efcab3 T C 11: 104,581,706 (GRCm39) V16A probably benign Het
Exd1 T C 2: 119,354,047 (GRCm39) N337S possibly damaging Het
Flii T C 11: 60,612,683 (GRCm39) D227G probably damaging Het
Hsf1 A G 15: 76,384,679 (GRCm39) T485A probably benign Het
Igfn1 G A 1: 135,884,505 (GRCm39) R2614* probably null Het
Iqch T C 9: 63,408,158 (GRCm39) T630A probably benign Het
Itgal T A 7: 126,921,253 (GRCm39) D770E probably damaging Het
Mroh1 T A 15: 76,316,449 (GRCm39) V759E probably damaging Het
Mrps17 A G 5: 129,795,209 (GRCm39) probably benign Het
Mtpap A G 18: 4,396,195 (GRCm39) S496G possibly damaging Het
Nkd1 T A 8: 89,311,844 (GRCm39) Y39* probably null Het
Nmd3 A G 3: 69,650,907 (GRCm39) Y359C probably damaging Het
Nr1h3 G A 2: 91,022,170 (GRCm39) L153F possibly damaging Het
Nuf2 T A 1: 169,341,112 (GRCm39) probably null Het
Or4b1b T C 2: 90,112,926 (GRCm39) probably null Het
Or4c113 T A 2: 88,885,700 (GRCm39) K23N probably benign Het
Or8b12i A T 9: 20,082,032 (GRCm39) Y278* probably null Het
Pnn T C 12: 59,113,903 (GRCm39) probably null Het
Ppm1j A G 3: 104,690,687 (GRCm39) D230G probably benign Het
Ppp1r15a A T 7: 45,172,442 (GRCm39) L650Q probably damaging Het
Prss37 T C 6: 40,491,893 (GRCm39) E229G probably damaging Het
Rbm19 T C 5: 120,266,372 (GRCm39) V465A possibly damaging Het
Rubcnl G T 14: 75,278,331 (GRCm39) V372F probably damaging Het
Sema6a G T 18: 47,403,785 (GRCm39) D595E probably benign Het
Slc35c1 A G 2: 92,289,377 (GRCm39) F43S probably damaging Het
Slc39a5 C T 10: 128,232,619 (GRCm39) probably null Het
Slco4c1 A G 1: 96,756,574 (GRCm39) F583L probably benign Het
Taf1b A G 12: 24,564,884 (GRCm39) D167G possibly damaging Het
Trpm6 T C 19: 18,861,321 (GRCm39) probably null Het
Uba6 A C 5: 86,292,237 (GRCm39) V402G possibly damaging Het
Usp43 T C 11: 67,767,324 (GRCm39) Y682C probably damaging Het
Vmn1r195 A G 13: 22,463,403 (GRCm39) D291G probably damaging Het
Xpr1 A T 1: 155,206,214 (GRCm39) F156Y probably damaging Het
Yju2b C T 8: 84,987,277 (GRCm39) E99K probably damaging Het
Zfp318 T A 17: 46,724,124 (GRCm39) H2042Q probably benign Het
Zfp937 T A 2: 150,081,222 (GRCm39) D417E possibly damaging Het
Other mutations in Sox9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01916:Sox9 APN 11 112,675,500 (GRCm39) missense probably benign 0.00
IGL02257:Sox9 APN 11 112,675,811 (GRCm39) missense possibly damaging 0.84
IGL02935:Sox9 APN 11 112,676,175 (GRCm39) missense probably damaging 0.99
R0634:Sox9 UTSW 11 112,675,768 (GRCm39) missense probably damaging 0.98
R4273:Sox9 UTSW 11 112,675,980 (GRCm39) missense possibly damaging 0.60
R4692:Sox9 UTSW 11 112,673,803 (GRCm39) missense probably benign 0.01
R5328:Sox9 UTSW 11 112,673,484 (GRCm39) missense probably benign 0.39
R5501:Sox9 UTSW 11 112,674,685 (GRCm39) missense probably damaging 1.00
R5905:Sox9 UTSW 11 112,674,646 (GRCm39) missense probably damaging 1.00
R6707:Sox9 UTSW 11 112,673,698 (GRCm39) missense probably damaging 0.99
R6834:Sox9 UTSW 11 112,674,826 (GRCm39) missense probably benign 0.01
R7897:Sox9 UTSW 11 112,675,635 (GRCm39) missense probably benign 0.22
R9037:Sox9 UTSW 11 112,675,650 (GRCm39) missense probably damaging 0.99
R9485:Sox9 UTSW 11 112,673,705 (GRCm39) missense probably benign 0.19
R9511:Sox9 UTSW 11 112,676,001 (GRCm39) missense possibly damaging 0.68
R9606:Sox9 UTSW 11 112,673,416 (GRCm39) missense probably damaging 0.99
Z1176:Sox9 UTSW 11 112,675,948 (GRCm39) missense possibly damaging 0.51
Z1177:Sox9 UTSW 11 112,675,629 (GRCm39) missense possibly damaging 0.57
Predicted Primers PCR Primer
(F):5'- GCTGGCAAAGTTGATCTGAAGCGAG -3'
(R):5'- TCAGCGTAGTCGTATTGCGAGC -3'

Sequencing Primer
(F):5'- TTGATCTGAAGCGAGAGGGG -3'
(R):5'- AGTGCTGCTGCTGCTCG -3'
Posted On 2013-04-24