Incidental Mutation 'R2417:Sox12'
ID 249022
Institutional Source Beutler Lab
Gene Symbol Sox12
Ensembl Gene ENSMUSG00000051817
Gene Name SRY (sex determining region Y)-box 12
Synonyms 2010205A02Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2417 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 152235531-152239966 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 152238717 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 301 (D301G)
Ref Sequence ENSEMBL: ENSMUSP00000138293 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063332] [ENSMUST00000182625]
AlphaFold Q04890
Predicted Effect possibly damaging
Transcript: ENSMUST00000063332
AA Change: D301G

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000064250
Gene: ENSMUSG00000051817
AA Change: D301G

DomainStartEndE-ValueType
low complexity region 5 31 N/A INTRINSIC
HMG 39 109 1.39e-29 SMART
low complexity region 110 182 N/A INTRINSIC
low complexity region 191 217 N/A INTRINSIC
low complexity region 221 250 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000182625
AA Change: D301G

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000138293
Gene: ENSMUSG00000051817
AA Change: D301G

DomainStartEndE-ValueType
low complexity region 5 31 N/A INTRINSIC
HMG 39 109 1.39e-29 SMART
low complexity region 110 182 N/A INTRINSIC
low complexity region 191 217 N/A INTRINSIC
low complexity region 221 250 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the SOX family of transcription factors are characterized by the presence of a DNA-binding high mobility group (HMG) domain, homologous to the HMG box of sex-determining region Y (SRY). Forming a subgroup of the HMG domain superfamily, SOX proteins have been implicated in cell fate decisions in a diverse range of developmental processes. SOX transcription factors have diverse tissue-specific expression patterns during early development and have been proposed to act as target-specific transcription factors and/or as chromatin structure regulatory elements. The protein encoded by this gene was identified as a SOX family member based on conserved domains, and its expression in various tissues suggests a role in both differentiation and maintenance of several cell types. [provided by RefSeq, Jan 2013]
PHENOTYPE: Mice homozygous for a null allele exhibit no phenotypic abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130008F23Rik T A 17: 41,191,101 (GRCm39) K109N probably benign Het
Adcy3 T C 12: 4,258,627 (GRCm39) V848A probably benign Het
Ahnak2 G A 12: 112,741,805 (GRCm39) P756S probably damaging Het
Alpk3 C A 7: 80,742,501 (GRCm39) P773T probably benign Het
Arhgef38 T C 3: 132,852,234 (GRCm39) K319E probably damaging Het
Bbs7 C T 3: 36,646,546 (GRCm39) A425T probably damaging Het
Cacna1e T A 1: 154,347,939 (GRCm39) R879W probably damaging Het
Cfap65 GTCTT GTCTTCTT 1: 74,966,345 (GRCm39) probably benign Het
Cpsf7 T C 19: 10,503,332 (GRCm39) probably benign Het
Ctf2 A G 7: 127,318,759 (GRCm39) V80A probably benign Het
Ddhd1 A G 14: 45,894,729 (GRCm39) L30P probably damaging Het
Eml1 A G 12: 108,502,534 (GRCm39) D700G probably benign Het
Epha7 C T 4: 28,947,579 (GRCm39) P613L probably damaging Het
Fam43b G C 4: 138,122,409 (GRCm39) R304G probably benign Het
Itih3 G A 14: 30,639,621 (GRCm39) T400I probably benign Het
Lrrc14 T A 15: 76,597,621 (GRCm39) L117Q probably damaging Het
Ncbp1 C T 4: 46,168,530 (GRCm39) S626L probably benign Het
Nefh C T 11: 4,889,479 (GRCm39) D1047N unknown Het
Ptprm T G 17: 67,251,321 (GRCm39) T519P probably damaging Het
Sorl1 T G 9: 41,892,007 (GRCm39) D1881A probably damaging Het
Vmn2r14 C T 5: 109,372,329 (GRCm39) E54K probably benign Het
Vmn2r26 A G 6: 124,038,309 (GRCm39) N628S probably damaging Het
Zfp143 G A 7: 109,668,803 (GRCm39) V36M possibly damaging Het
Zfp850 A T 7: 27,688,608 (GRCm39) N533K possibly damaging Het
Other mutations in Sox12
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2339:Sox12 UTSW 2 152,238,958 (GRCm39) missense possibly damaging 0.73
R5177:Sox12 UTSW 2 152,239,098 (GRCm39) missense unknown
R5929:Sox12 UTSW 2 152,239,308 (GRCm39) missense probably damaging 0.98
R6751:Sox12 UTSW 2 152,238,678 (GRCm39) missense probably damaging 0.99
R7337:Sox12 UTSW 2 152,239,377 (GRCm39) missense probably damaging 0.98
R8319:Sox12 UTSW 2 152,239,192 (GRCm39) missense unknown
Z1088:Sox12 UTSW 2 152,239,385 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- TATGTAGGAGGAACGAGGTGTATCC -3'
(R):5'- TATCTGGGGAGGAGCCACTG -3'

Sequencing Primer
(F):5'- CTACGCGGGACAGGACTGAATG -3'
(R):5'- GGGCTTTCTGTCCAGGATGC -3'
Posted On 2014-11-12