Incidental Mutation 'R8319:Sox12'
Institutional Source Beutler Lab
Gene Symbol Sox12
Ensembl Gene ENSMUSG00000051817
Gene NameSRY (sex determining region Y)-box 12
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R8319 (G1)
Quality Score225.009
Status Not validated
Chromosomal Location152393611-152398063 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 152397272 bp
Amino Acid Change Proline to Serine at position 143 (P143S)
Ref Sequence ENSEMBL: ENSMUSP00000064250 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063332] [ENSMUST00000182625]
Predicted Effect unknown
Transcript: ENSMUST00000063332
AA Change: P143S
SMART Domains Protein: ENSMUSP00000064250
Gene: ENSMUSG00000051817
AA Change: P143S

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 unknown
Transcript: ENSMUST00000182625
AA Change: P143S
SMART Domains Protein: ENSMUSP00000138293
Gene: ENSMUSG00000051817
AA Change: P143S

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921517D22Rik A T 13: 59,690,672 D115E probably benign Het
Abcc1 T A 16: 14,396,451 L197Q probably damaging Het
Adamts14 T G 10: 61,221,927 N547T probably benign Het
Ampd3 T A 7: 110,795,775 S301R probably benign Het
Atg9a G A 1: 75,185,698 Q523* probably null Het
Atl1 A T 12: 69,955,319 T351S probably damaging Het
Bhlhe40 TG TGG 6: 108,664,857 probably null Het
Cacna1c T C 6: 118,637,774 I1315V Het
Ccdc109b A G 3: 129,933,679 F93L probably damaging Het
Col12a1 C T 9: 79,648,697 G2013R probably damaging Het
Cpne2 A G 8: 94,553,412 D153G probably benign Het
Cryzl1 T C 16: 91,692,363 S205G probably benign Het
Cux1 C T 5: 136,565,397 A5T probably benign Het
Ddx60 T C 8: 61,942,635 probably null Het
Dnajc13 G A 9: 104,190,391 P1190S probably benign Het
Fbxw7 T A 3: 84,974,552 V526E Het
Fig4 C A 10: 41,263,101 G369C probably damaging Het
Gabra1 C T 11: 42,135,488 A326T probably damaging Het
Gbe1 G A 16: 70,488,076 G429S probably benign Het
Gm340 T A 19: 41,582,904 S179T probably damaging Het
Gtf3c5 A T 2: 28,570,494 H364Q probably benign Het
Hcfc2 T A 10: 82,738,367 I125N probably damaging Het
Hnrnpul1 A T 7: 25,754,477 D53E probably benign Het
Il18 A T 9: 50,581,518 D128V possibly damaging Het
Intu T A 3: 40,653,772 S71R probably damaging Het
Klhl6 T C 16: 19,957,190 E206G possibly damaging Het
Mdga2 T C 12: 67,221,029 Y5C unknown Het
Naip1 C A 13: 100,429,213 V354L probably benign Het
Naip5 A G 13: 100,221,659 V1023A probably benign Het
Ndufaf1 A G 2: 119,660,087 L166P probably damaging Het
Ninl A T 2: 150,959,907 L147H probably damaging Het
Olfr1259 A G 2: 89,943,680 V145A possibly damaging Het
Olfr64 A G 7: 103,893,429 I102T probably damaging Het
Otogl C T 10: 107,853,266 probably null Het
Otulin AT ATT 15: 27,606,318 probably null Het
Phf11b A C 14: 59,338,697 L30R probably damaging Het
Prdm13 G T 4: 21,679,327 H388N unknown Het
Pwwp2b T C 7: 139,255,183 V180A probably damaging Het
Reep4 T A 14: 70,546,511 S23T probably damaging Het
Rusc2 T A 4: 43,425,378 L1161Q probably damaging Het
Scgb1b3 G A 7: 31,375,979 probably null Het
Scn10a G T 9: 119,670,389 N279K probably benign Het
Smurf2 A G 11: 106,824,752 L643S probably damaging Het
Specc1 C T 11: 62,118,675 T339I possibly damaging Het
Tas2r139 T C 6: 42,141,786 V284A probably benign Het
Thumpd3 T A 6: 113,063,146 C330* probably null Het
Ttc26 T A 6: 38,405,945 H338Q probably damaging Het
Ttn A G 2: 76,706,954 S34877P possibly damaging Het
Zfp568 T C 7: 29,998,204 S104P possibly damaging Het
Zfp933 G A 4: 147,828,453 H50Y possibly damaging Het
Other mutations in Sox12
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2339:Sox12 UTSW 2 152397038 missense possibly damaging 0.73
R2417:Sox12 UTSW 2 152396797 missense possibly damaging 0.85
R5177:Sox12 UTSW 2 152397178 missense unknown
R5929:Sox12 UTSW 2 152397388 missense probably damaging 0.98
R6751:Sox12 UTSW 2 152396758 missense probably damaging 0.99
R7337:Sox12 UTSW 2 152397457 missense probably damaging 0.98
Z1088:Sox12 UTSW 2 152397465 missense probably damaging 0.98
Predicted Primers PCR Primer

Sequencing Primer
Posted On2020-07-28