Incidental Mutation 'R0898:Sox11'
ID 83760
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 039058-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0898 (G1)
Quality Score 214
Status Validated
Chromosome 12
Chromosomal Location 27384263-27392573 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 27391224 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 395 (Y395C)
Ref Sequence ENSEMBL: ENSMUSP00000078070 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079063]
AlphaFold Q7M6Y2
Predicted Effect probably damaging
Transcript: ENSMUST00000079063
AA Change: Y395C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000078070
Gene: ENSMUSG00000063632
AA Change: Y395C

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 0.6107 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.5%
  • 20x: 95.4%
Validation Efficiency 98% (42/43)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adipor1 T A 1: 134,351,814 (GRCm39) probably null Het
Apmap A G 2: 150,427,669 (GRCm39) probably benign Het
Arhgap11a T C 2: 113,667,221 (GRCm39) N442S probably benign Het
Bpifb5 C T 2: 154,075,254 (GRCm39) A394V probably benign Het
Brpf3 A G 17: 29,025,964 (GRCm39) T346A possibly damaging Het
Ccdc154 A G 17: 25,383,055 (GRCm39) probably benign Het
Cdh15 G C 8: 123,584,234 (GRCm39) E112Q probably damaging Het
Col3a1 T C 1: 45,373,153 (GRCm39) probably benign Het
Cpm A C 10: 117,512,011 (GRCm39) probably benign Het
Crlf2 G C 5: 109,705,004 (GRCm39) P67R probably damaging Het
Ddx59 T C 1: 136,344,679 (GRCm39) Y117H probably damaging Het
Fam241b A G 10: 61,944,773 (GRCm39) F98L probably damaging Het
Fmn2 G A 1: 174,331,026 (GRCm39) G472E unknown Het
Gcdh T C 8: 85,620,189 (GRCm39) H41R possibly damaging Het
Gm7713 A C 15: 59,866,290 (GRCm39) noncoding transcript Het
Gmeb1 T C 4: 131,962,093 (GRCm39) T189A probably benign Het
Iqck G A 7: 118,570,664 (GRCm39) C272Y probably damaging Het
Kcnn2 T C 18: 45,692,543 (GRCm39) C40R possibly damaging Het
Map3k1 T C 13: 111,904,490 (GRCm39) probably benign Het
Nabp1 T C 1: 51,510,496 (GRCm39) I169V probably benign Het
Or14j8 T C 17: 38,263,127 (GRCm39) T263A probably benign Het
Or8c20 G A 9: 38,260,738 (GRCm39) V120M probably damaging Het
Pfkm A G 15: 98,026,111 (GRCm39) I569V probably benign Het
Plcb1 A T 2: 135,229,063 (GRCm39) T1096S possibly damaging Het
Plscr4 A C 9: 92,366,806 (GRCm39) D140A probably damaging Het
Plxna2 A G 1: 194,479,332 (GRCm39) D1331G probably damaging Het
Ppfia4 T C 1: 134,248,864 (GRCm39) T498A probably benign Het
Prkar2b A T 12: 32,013,001 (GRCm39) L372I possibly damaging Het
Rslcan18 T C 13: 67,246,880 (GRCm39) N120S probably benign Het
Sbf2 C T 7: 109,970,859 (GRCm39) V846I possibly damaging Het
Slc16a7 A G 10: 125,069,370 (GRCm39) I102T possibly damaging Het
Slc1a4 T C 11: 20,254,349 (GRCm39) T506A probably damaging Het
Slc22a7 T C 17: 46,744,075 (GRCm39) T462A probably damaging Het
Taf2 T C 15: 54,923,480 (GRCm39) T266A probably damaging Het
Tanc1 C T 2: 59,621,132 (GRCm39) T317I probably damaging Het
Tnxb T C 17: 34,889,719 (GRCm39) S71P probably damaging Het
Tpgs2 G A 18: 25,282,207 (GRCm39) P115S probably damaging Het
Trmt10a C T 3: 137,855,279 (GRCm39) P139L probably damaging Het
Zfp113 T C 5: 138,143,051 (GRCm39) S400G probably benign Het
Other mutations in Sox11
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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'- CACAACTCCAGACTAGGTGTGCAAC -3'
(R):5'- AGCTTGAATTTCTCCCAGGGCG -3'

Sequencing Primer
(F):5'- CTAGGTGTGCAACTACCTTGAGAC -3'
(R):5'- TGGTGGATAAGGACCTGGAT -3'
Posted On 2013-11-08