Incidental Mutation 'R5929:Sox12'
ID 460071
Institutional Source Beutler Lab
Gene Symbol Sox12
Ensembl Gene ENSMUSG00000051817
Gene Name SRY (sex determining region Y)-box 12
Synonyms 2010205A02Rik
MMRRC Submission 044124-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5929 (G1)
Quality Score 128
Status Validated
Chromosome 2
Chromosomal Location 152235531-152239966 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 152239308 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 104 (Y104C)
Ref Sequence ENSEMBL: ENSMUSP00000138293 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063332] [ENSMUST00000182625]
AlphaFold Q04890
Predicted Effect probably damaging
Transcript: ENSMUST00000063332
AA Change: Y104C

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000064250
Gene: ENSMUSG00000051817
AA Change: Y104C

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 probably damaging
Transcript: ENSMUST00000182625
AA Change: Y104C

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000138293
Gene: ENSMUSG00000051817
AA Change: Y104C

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 0.6098 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.7%
Validation Efficiency 99% (84/85)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ang4 C T 14: 52,001,708 (GRCm39) C80Y probably damaging Het
Ankib1 T C 5: 3,819,633 (GRCm39) I95M possibly damaging Het
Ankrd1 T C 19: 36,095,277 (GRCm39) E137G possibly damaging Het
Car6 T C 4: 150,280,592 (GRCm39) H84R probably damaging Het
Casd1 T A 6: 4,629,993 (GRCm39) L463Q probably damaging Het
Casz1 T A 4: 149,023,426 (GRCm39) L491Q probably damaging Het
Casz1 C T 4: 149,023,153 (GRCm39) S400L probably damaging Het
Catsperd A T 17: 56,959,493 (GRCm39) H311L probably benign Het
Ccdc83 A G 7: 89,885,524 (GRCm39) probably benign Het
Cd163 G A 6: 124,303,568 (GRCm39) probably null Het
Cd244a A T 1: 171,386,935 (GRCm39) R15W probably damaging Het
Ces3b A G 8: 105,819,797 (GRCm39) K490R probably damaging Het
Chordc1 T C 9: 18,215,658 (GRCm39) S137P possibly damaging Het
Col4a1 T A 8: 11,266,788 (GRCm39) T1140S probably benign Het
Col6a4 T C 9: 105,940,243 (GRCm39) E1229G probably benign Het
Cr2 A G 1: 194,853,419 (GRCm39) S20P possibly damaging Het
Dcaf13 T A 15: 39,007,048 (GRCm39) H327Q possibly damaging Het
Depdc5 G T 5: 33,132,850 (GRCm39) E646* probably null Het
Dnah5 G A 15: 28,311,353 (GRCm39) M1777I probably benign Het
Dnah5 G T 15: 28,311,354 (GRCm39) A1778S probably damaging Het
Dnajc5b T C 3: 19,601,019 (GRCm39) Y39H probably damaging Het
Dsp A T 13: 38,379,410 (GRCm39) I1453F possibly damaging Het
Fyn T A 10: 39,427,457 (GRCm39) W447R probably damaging Het
Gabra6 T A 11: 42,208,389 (GRCm39) M148L probably damaging Het
Gcfc2 T A 6: 81,923,580 (GRCm39) V32D probably damaging Het
Ginm1 G T 10: 7,649,814 (GRCm39) L160I probably benign Het
Gm19345 A G 7: 19,591,747 (GRCm39) Y221H probably damaging Het
Gpr155 G A 2: 73,204,011 (GRCm39) R268* probably null Het
Hacl1 T A 14: 31,338,345 (GRCm39) M411L probably benign Het
Hdac3 C T 18: 38,074,394 (GRCm39) probably benign Het
Hmcn1 C A 1: 150,453,047 (GRCm39) E5423* probably null Het
Ipo4 T C 14: 55,868,646 (GRCm39) H454R probably benign Het
Itpr1 A T 6: 108,400,297 (GRCm39) I1693F probably benign Het
Kif12 T C 4: 63,086,754 (GRCm39) T361A probably damaging Het
Kif21b A G 1: 136,078,945 (GRCm39) E431G probably damaging Het
Kif27 C T 13: 58,491,784 (GRCm39) A452T probably benign Het
Kifbp A T 10: 62,395,181 (GRCm39) I487N probably damaging Het
Lhcgr A T 17: 89,050,436 (GRCm39) Y363* probably null Het
Lrrc8d A T 5: 105,960,472 (GRCm39) K294I probably damaging Het
Mapk3 A C 7: 126,359,030 (GRCm39) probably benign Het
Mogat1 A T 1: 78,500,370 (GRCm39) I145F probably benign Het
Mtmr7 T C 8: 41,011,399 (GRCm39) probably null Het
Ndufaf6 T C 4: 11,051,150 (GRCm39) N317D probably benign Het
Nfe2l1 G T 11: 96,718,185 (GRCm39) Q117K probably damaging Het
Odad3 T C 9: 21,913,718 (GRCm39) E18G possibly damaging Het
Olfm3 T G 3: 114,895,529 (GRCm39) I137S probably damaging Het
Or4f7d-ps1 T A 2: 111,674,631 (GRCm39) noncoding transcript Het
Otub1 G A 19: 7,177,350 (GRCm39) S99F probably damaging Het
Padi2 T G 4: 140,671,848 (GRCm39) probably null Het
Paip1 C T 13: 119,582,326 (GRCm39) T268I probably damaging Het
Pak1ip1 T C 13: 41,158,276 (GRCm39) S50P probably benign Het
Pcdhb18 G A 18: 37,623,537 (GRCm39) R289Q probably benign Het
Phkb A G 8: 86,697,543 (GRCm39) I451V probably benign Het
Plcg1 T A 2: 160,595,522 (GRCm39) probably null Het
Prg4 A G 1: 150,329,880 (GRCm39) F722S probably benign Het
Prss3 T C 6: 41,353,738 (GRCm39) probably null Het
Psmd3 C T 11: 98,586,422 (GRCm39) P530L probably damaging Het
Rims1 A T 1: 22,507,322 (GRCm39) D609E probably damaging Het
Sema3f T C 9: 107,569,392 (GRCm39) Y82C probably damaging Het
Shoc1 G T 4: 59,092,497 (GRCm39) S228* probably null Het
Slc35b2 G T 17: 45,877,587 (GRCm39) W238L probably benign Het
Stx5a T G 19: 8,719,675 (GRCm39) D13E probably damaging Het
Tlr7 C A X: 166,089,878 (GRCm39) G536V probably damaging Het
Tspan12 A G 6: 21,772,746 (GRCm39) S220P possibly damaging Het
Utp11 T C 4: 124,576,036 (GRCm39) T173A probably damaging Het
Wrnip1 G C 13: 32,990,949 (GRCm39) D403H probably damaging Het
Xpnpep1 T C 19: 53,001,920 (GRCm39) T109A probably damaging Het
Zfp354b A T 11: 50,813,282 (GRCm39) F548I probably damaging Het
Zup1 A T 10: 33,825,043 (GRCm39) Y146* probably null Het
Other mutations in Sox12
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2339:Sox12 UTSW 2 152,238,958 (GRCm39) missense possibly damaging 0.73
R2417:Sox12 UTSW 2 152,238,717 (GRCm39) missense possibly damaging 0.85
R5177:Sox12 UTSW 2 152,239,098 (GRCm39) missense unknown
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'- ATCCTGGACAGAAAGCCCAG -3'
(R):5'- AACGCGTTCATGGTGTGGTC -3'

Sequencing Primer
(F):5'- GTCTCCAGCAGGCGTACTTC -3'
(R):5'- TGGTGTGGTCGCAGCAC -3'
Posted On 2017-02-28