Incidental Mutation 'R9066:Sox11'
ID 689281
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 068891-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9066 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 27384263-27392573 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 27391422 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 329 (H329R)
Ref Sequence ENSEMBL: ENSMUSP00000078070 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079063]
AlphaFold Q7M6Y2
Predicted Effect possibly damaging
Transcript: ENSMUST00000079063
AA Change: H329R

PolyPhen 2 Score 0.706 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000078070
Gene: ENSMUSG00000063632
AA Change: H329R

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 96% (46/48)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 A G 10: 79,849,188 (GRCm39) T1858A probably damaging Het
Atp1a1 A G 3: 101,489,338 (GRCm39) I758T probably damaging Het
Atp2c1 T C 9: 105,330,845 (GRCm39) E225G probably damaging Het
Clec7a A C 6: 129,444,491 (GRCm39) S115A probably benign Het
Cnbd1 T C 4: 19,098,181 (GRCm39) T80A probably benign Het
Ctu1 A G 7: 43,326,019 (GRCm39) H226R possibly damaging Het
Dctn4 T C 18: 60,659,387 (GRCm39) F29L probably damaging Het
Dnajb2 A G 1: 75,217,874 (GRCm39) T169A Het
Efcab3 T A 11: 104,631,688 (GRCm39) probably benign Het
Esf1 A T 2: 139,990,693 (GRCm39) M597K probably benign Het
Fzd7 C T 1: 59,521,991 (GRCm39) probably benign Het
Gapvd1 C A 2: 34,617,297 (GRCm39) Q349H probably damaging Het
Garin5b T C 7: 4,773,518 (GRCm39) probably benign Het
Gata5 A G 2: 179,968,761 (GRCm39) F371S Het
Gm572 A T 4: 148,751,278 (GRCm39) Q217L possibly damaging Het
Igkv14-130 T A 6: 67,768,219 (GRCm39) M26K probably damaging Het
Jchain T G 5: 88,675,638 (GRCm39) M1L probably benign Het
Kcnj14 G A 7: 45,469,073 (GRCm39) T144M probably damaging Het
Kirrel2 C A 7: 30,153,454 (GRCm39) A302S probably damaging Het
Klhl29 C T 12: 5,260,114 (GRCm39) V35I probably benign Het
Kndc1 C T 7: 139,507,708 (GRCm39) S1222F possibly damaging Het
Lgi4 A C 7: 30,759,446 (GRCm39) M1L probably benign Het
Ncr1 A G 7: 4,347,552 (GRCm39) D276G probably benign Het
Nfatc3 T A 8: 106,825,782 (GRCm39) M619K probably benign Het
Nudcd1 A T 15: 44,243,588 (GRCm39) F441I probably damaging Het
Nxt2 C T X: 141,020,747 (GRCm39) A118V possibly damaging Het
Or10a3n A T 7: 108,493,253 (GRCm39) Y125* probably null Het
Or8b12 T G 9: 37,657,871 (GRCm39) V147G possibly damaging Het
Pop1 A T 15: 34,516,060 (GRCm39) Q586L possibly damaging Het
Prss3b C T 6: 41,008,640 (GRCm39) G225R probably benign Het
Rcbtb1 T G 14: 59,462,206 (GRCm39) I279S possibly damaging Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,118 (GRCm39) probably benign Het
Serpine3 A G 14: 62,929,555 (GRCm39) D401G probably damaging Het
Slc25a4 A G 8: 46,662,115 (GRCm39) V181A probably damaging Het
Slc26a2 T G 18: 61,335,130 (GRCm39) I108L probably benign Het
Slc27a5 A C 7: 12,722,530 (GRCm39) V648G possibly damaging Het
Slc2a7 T C 4: 150,250,872 (GRCm39) F431S probably damaging Het
Speg G A 1: 75,361,654 (GRCm39) G223R probably damaging Het
Synpo2 G A 3: 122,911,133 (GRCm39) H171Y possibly damaging Het
Tle6 G T 10: 81,430,212 (GRCm39) N323K possibly damaging Het
Ugt3a1 A T 15: 9,367,384 (GRCm39) M376L possibly damaging Het
Unc13d T C 11: 115,957,561 (GRCm39) K798R probably benign Het
Vasp A T 7: 18,998,433 (GRCm39) H80Q probably damaging Het
Vmn2r28 T C 7: 5,491,596 (GRCm39) D217G probably damaging Het
Vps41 T C 13: 19,008,018 (GRCm39) S284P probably damaging Het
Zer1 A C 2: 30,000,686 (GRCm39) L245R probably damaging Het
Zfp516 G T 18: 82,973,964 (GRCm39) R54L probably damaging Het
Zfp868 T C 8: 70,064,292 (GRCm39) K348E 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
R6933:Sox11 UTSW 12 27,391,493 (GRCm39) missense probably damaging 0.99
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
R9172:Sox11 UTSW 12 27,391,536 (GRCm39) missense possibly damaging 0.83
Predicted Primers PCR Primer
(F):5'- TTTATCCTGACCGCCACGAC -3'
(R):5'- CGGCTCTACTACAGCTTCAAG -3'

Sequencing Primer
(F):5'- TCAATACGTGAACACCAGGTCGG -3'
(R):5'- GGCTCTACTACAGCTTCAAGAACATC -3'
Posted On 2021-11-19