Incidental Mutation 'R2339:Sox12'
ID 246664
Institutional Source Beutler Lab
Gene Symbol Sox12
Ensembl Gene ENSMUSG00000051817
Gene Name SRY (sex determining region Y)-box 12
Synonyms 2010205A02Rik
MMRRC Submission 040325-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2339 (G1)
Quality Score 166
Status Validated
Chromosome 2
Chromosomal Location 152235531-152239966 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 152238958 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 221 (S221P)
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: S221P

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000064250
Gene: ENSMUSG00000051817
AA Change: S221P

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: S221P

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000138293
Gene: ENSMUSG00000051817
AA Change: S221P

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
Meta Mutation Damage Score 0.0922 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency 100% (32/32)
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatf T C 11: 84,402,323 (GRCm39) D121G probably benign Het
Ccdc168 G T 1: 44,100,023 (GRCm39) D358E probably benign Het
Cilp2 A T 8: 70,335,544 (GRCm39) S485T probably benign Het
Cux1 A C 5: 136,315,862 (GRCm39) S1059R probably damaging Het
Dnah5 A G 15: 28,314,028 (GRCm39) D1948G probably benign Het
Fyn A G 10: 39,398,781 (GRCm39) T126A probably benign Het
Gm10134 C T 2: 28,396,141 (GRCm39) S12F probably benign Het
Grm7 T C 6: 111,472,642 (GRCm39) I827T possibly damaging Het
H1f4 T C 13: 23,805,943 (GRCm39) probably benign Het
Hacd4 T A 4: 88,341,336 (GRCm39) probably null Het
Helt T C 8: 46,745,709 (GRCm39) N58S probably damaging Het
Jakmip1 T C 5: 37,248,543 (GRCm39) Y68H probably benign Het
Myof G T 19: 37,926,375 (GRCm39) H1127N probably damaging Het
Nbas A T 12: 13,412,593 (GRCm39) I971L probably benign Het
Or4k39 C T 2: 111,239,534 (GRCm39) T258I probably benign Het
Pakap G A 4: 57,883,180 (GRCm39) R882H probably damaging Het
Peg10 A G 6: 4,756,102 (GRCm39) probably benign Het
Pparg G T 6: 115,428,005 (GRCm39) R164L probably damaging Het
Ppp4r3b A T 11: 29,150,725 (GRCm39) N464Y possibly damaging Het
Ric8b T C 10: 84,805,888 (GRCm39) V333A probably benign Het
Sall2 G A 14: 52,550,813 (GRCm39) S792L probably damaging Het
Slc5a4b C A 10: 75,944,383 (GRCm39) L87F probably damaging Het
Tpr T A 1: 150,289,525 (GRCm39) S619T probably benign Het
Trdmt1 G A 2: 13,524,871 (GRCm39) Q195* probably null Het
Trpm2 A T 10: 77,750,640 (GRCm39) probably benign Het
Ttc3 C T 16: 94,232,857 (GRCm39) P1003L probably damaging Het
Upf2 A T 2: 6,044,913 (GRCm39) probably benign Het
Vmn2r112 T A 17: 22,822,096 (GRCm39) V258E probably damaging Het
Zfp318 C T 17: 46,710,389 (GRCm39) T704I probably benign Het
Other mutations in Sox12
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2417:Sox12 UTSW 2 152,238,717 (GRCm39) missense possibly damaging 0.85
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'- AATTCGAAATGTGACGTGCC -3'
(R):5'- GGACTACCCGGACTACAAGTAC -3'

Sequencing Primer
(F):5'- ATGTGACGTGCCCGAAG -3'
(R):5'- TGGCAGTCGGCTGAAAC -3'
Posted On 2014-10-30