Incidental Mutation 'R6933:Sox11'
ID 540174
Institutional Source Beutler Lab
Gene Symbol Sox11
Ensembl Gene ENSMUSG00000063632
Gene Name SRY (sex determining region Y)-box 11
Synonyms end1, 1110038H03Rik, 6230403H02Rik
MMRRC Submission 045048-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6933 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 27384263-27392573 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 27391493 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 305 (S305R)
Ref Sequence ENSEMBL: ENSMUSP00000078070 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079063]
AlphaFold Q7M6Y2
Predicted Effect probably damaging
Transcript: ENSMUST00000079063
AA Change: S305R

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000078070
Gene: ENSMUSG00000063632
AA Change: S305R

DomainStartEndE-ValueType
HMG 48 118 1.35e-27 SMART
low complexity region 142 174 N/A INTRINSIC
low complexity region 188 199 N/A INTRINSIC
low complexity region 207 213 N/A INTRINSIC
low complexity region 220 233 N/A INTRINSIC
low complexity region 281 309 N/A INTRINSIC
low complexity region 344 357 N/A INTRINSIC
Meta Mutation Damage Score 0.0824 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.7%
Validation Efficiency 93% (41/44)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This intronless gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. The protein may function in the developing nervous system and play a role in tumorigenesis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display neonatal lethality with impaired ossification and impaired development of the heart, lung, spleen, stomach, skeleton and pancreas. Mice homozygous for a different knock-out allele exhibit abnormal nervous system development and complete neonatal lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ank3 G T 10: 69,740,042 (GRCm39) K814N probably damaging Het
Anks1b A G 10: 89,905,352 (GRCm39) H231R probably damaging Het
Anks6 A G 4: 47,049,164 (GRCm39) V247A probably benign Het
Antxrl A G 14: 33,797,728 (GRCm39) N568D possibly damaging Het
Ccnl1 T C 3: 65,855,373 (GRCm39) T366A probably benign Het
Ccr2 T G 9: 123,906,161 (GRCm39) L147R probably damaging Het
Cdc40 A G 10: 40,720,992 (GRCm39) V318A probably damaging Het
Cfap61 T A 2: 145,792,970 (GRCm39) probably null Het
Cfap97d2 CA CAA 8: 13,784,865 (GRCm39) probably null Het
Clk3 A T 9: 57,669,132 (GRCm39) Y31N probably damaging Het
Cmya5 T C 13: 93,231,644 (GRCm39) Y1148C probably benign Het
Cntnap5b T C 1: 100,311,175 (GRCm39) V927A probably benign Het
Dync1i1 A C 6: 5,913,333 (GRCm39) T217P probably damaging Het
Elovl4 A G 9: 83,667,153 (GRCm39) V68A probably damaging Het
Ep400 C A 5: 110,813,728 (GRCm39) K2890N probably damaging Het
Fam114a2 T C 11: 57,374,897 (GRCm39) I481V probably benign Het
Fam83e A G 7: 45,371,818 (GRCm39) T72A probably benign Het
Fnip2 A T 3: 79,425,418 (GRCm39) M59K probably benign Het
Lrpprc T C 17: 85,030,131 (GRCm39) K1089R probably benign Het
Mndal T A 1: 173,703,249 (GRCm39) E52V probably damaging Het
Myom1 C A 17: 71,359,666 (GRCm39) T446K probably damaging Het
Nbea A T 3: 55,631,031 (GRCm39) F2199I possibly damaging Het
Nr1h2 A T 7: 44,199,437 (GRCm39) L438Q probably damaging Het
Or52n2c A G 7: 104,574,330 (GRCm39) C214R probably benign Het
Pet117 T A 2: 144,211,019 (GRCm39) V13E possibly damaging Het
Pnpla8 A G 12: 44,330,210 (GRCm39) E254G probably benign Het
Polr2a T C 11: 69,627,003 (GRCm39) E1485G probably damaging Het
Polr2a C T 11: 69,630,293 (GRCm39) R1258Q probably benign Het
Ptpn4 T C 1: 119,700,878 (GRCm39) probably benign Het
Rapgef2 A T 3: 78,993,266 (GRCm39) Y889N probably damaging Het
Sbf1 G A 15: 89,184,572 (GRCm39) R1115C probably damaging Het
Sfpq GCCGCCGCAGCAGCCTCCGCCGCAGCAGCC GCCGCCGCAGCAGCC 4: 126,915,419 (GRCm39) probably benign Het
Shank2 A T 7: 143,645,515 (GRCm39) T366S probably benign Het
Slc22a23 T C 13: 34,489,163 (GRCm39) I241V probably benign Het
Sox21 T C 14: 118,472,725 (GRCm39) H108R possibly damaging Het
Taok1 A T 11: 77,446,479 (GRCm39) S417T probably benign Het
Tg C T 15: 66,636,158 (GRCm39) R582C possibly damaging Het
Traf3 T C 12: 111,221,658 (GRCm39) V273A possibly damaging Het
Tspyl3 T C 2: 153,067,203 (GRCm39) T12A probably benign Het
Vmn2r86 A T 10: 130,282,126 (GRCm39) I830N probably damaging Het
Vps26b A T 9: 26,926,613 (GRCm39) F129I possibly damaging Het
Washc3 A G 10: 88,037,714 (GRCm39) N24S probably damaging Het
Xirp2 C A 2: 67,345,201 (GRCm39) Q2481K probably benign Het
Zfhx4 T C 3: 5,478,047 (GRCm39) V3554A probably damaging Het
Other mutations in Sox11
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0898:Sox11 UTSW 12 27,391,224 (GRCm39) missense probably damaging 1.00
R1265:Sox11 UTSW 12 27,391,735 (GRCm39) missense probably benign 0.03
R2073:Sox11 UTSW 12 27,392,278 (GRCm39) missense possibly damaging 0.91
R2108:Sox11 UTSW 12 27,391,702 (GRCm39) missense probably damaging 1.00
R3620:Sox11 UTSW 12 27,391,735 (GRCm39) missense probably benign 0.03
R3855:Sox11 UTSW 12 27,391,501 (GRCm39) missense probably damaging 0.99
R5681:Sox11 UTSW 12 27,391,823 (GRCm39) missense probably benign
R6288:Sox11 UTSW 12 27,392,332 (GRCm39) missense possibly damaging 0.85
R7752:Sox11 UTSW 12 27,391,439 (GRCm39) missense probably damaging 1.00
R8833:Sox11 UTSW 12 27,392,313 (GRCm39) missense possibly damaging 0.85
R9066:Sox11 UTSW 12 27,391,422 (GRCm39) missense possibly damaging 0.71
R9172:Sox11 UTSW 12 27,391,536 (GRCm39) missense possibly damaging 0.83
Predicted Primers PCR Primer
(F):5'- TAGTCGGGGAACTCGAAGTG -3'
(R):5'- TTATCCCGACTACAAGTACCGG -3'

Sequencing Primer
(F):5'- CGGGGAACTCGAAGTGGGAAC -3'
(R):5'- TCTTCCTGGACGACGACGATG -3'
Posted On 2018-11-06