Incidental Mutation 'IGL01697:Sox14'
ID 104310
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sox14
Ensembl Gene ENSMUSG00000053747
Gene Name SRY (sex determining region Y)-box 14
Synonyms
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.333) question?
Stock # IGL01697
Quality Score
Status
Chromosome 9
Chromosomal Location 99756159-99758223 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 99757716 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 8 (I8V)
Ref Sequence ENSEMBL: ENSMUSP00000091310 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054819]
AlphaFold Q04892
Predicted Effect probably benign
Transcript: ENSMUST00000054819
AA Change: I8V

PolyPhen 2 Score 0.447 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000091310
Gene: ENSMUSG00000053747
AA Change: I8V

DomainStartEndE-ValueType
HMG 7 77 6.94e-30 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000183065
Coding Region Coverage
Validation Efficiency
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. Mutations in this gene are suggested to be responsible for the limb defects associated with blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) and Mobius syndrome. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9430015G10Rik T A 4: 156,203,613 (GRCm39) probably benign Het
Arid2 A C 15: 96,259,453 (GRCm39) probably null Het
Cadm1 C A 9: 47,761,622 (GRCm39) D435E probably damaging Het
Dagla A G 19: 10,248,562 (GRCm39) F33L probably benign Het
Edrf1 A G 7: 133,245,459 (GRCm39) H199R probably benign Het
F5 T A 1: 164,021,621 (GRCm39) N1365K probably benign Het
Gipc2 T G 3: 151,843,245 (GRCm39) I131L probably benign Het
Gpc1 C T 1: 92,786,132 (GRCm39) S507F possibly damaging Het
Grid1 A G 14: 35,031,214 (GRCm39) D269G probably benign Het
Ighv12-3 A T 12: 114,330,573 (GRCm39) M1K probably null Het
Kif5b T C 18: 6,226,871 (GRCm39) H129R possibly damaging Het
Lipo3 A T 19: 33,536,965 (GRCm39) C252S probably damaging Het
Mast4 A C 13: 102,904,401 (GRCm39) N645K probably damaging Het
Megf9 T A 4: 70,351,709 (GRCm39) T471S possibly damaging Het
Mmrn1 A G 6: 60,953,477 (GRCm39) D586G possibly damaging Het
Ninl A T 2: 150,781,867 (GRCm39) L1206Q probably damaging Het
Oog2 T A 4: 143,921,754 (GRCm39) N221K possibly damaging Het
Or13a17 T C 7: 140,271,565 (GRCm39) V249A possibly damaging Het
Or5b96 T A 19: 12,867,831 (GRCm39) T37S probably benign Het
Or6c8b C A 10: 128,882,371 (GRCm39) C187F probably damaging Het
Pik3ap1 G A 19: 41,313,018 (GRCm39) A365V probably damaging Het
Ppwd1 T C 13: 104,356,972 (GRCm39) E181G probably benign Het
Scaf11 A C 15: 96,321,504 (GRCm39) probably benign Het
Skic3 C T 13: 76,276,852 (GRCm39) L479F probably benign Het
Skint7 T A 4: 111,837,654 (GRCm39) probably benign Het
Spata31f3 T A 4: 42,874,163 (GRCm39) M2L probably benign Het
Stim1 A T 7: 102,075,176 (GRCm39) probably benign Het
Ttll3 T C 6: 113,376,690 (GRCm39) S357P probably benign Het
Vmn1r178 T A 7: 23,593,114 (GRCm39) I54N probably damaging Het
Zdhhc2 T C 8: 40,920,460 (GRCm39) probably benign Het
Other mutations in Sox14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01766:Sox14 APN 9 99,757,169 (GRCm39) missense probably damaging 1.00
IGL02147:Sox14 APN 9 99,757,598 (GRCm39) missense probably damaging 1.00
IGL03204:Sox14 APN 9 99,757,110 (GRCm39) missense probably benign 0.00
IGL03367:Sox14 APN 9 99,757,715 (GRCm39) missense probably damaging 1.00
R0420:Sox14 UTSW 9 99,757,175 (GRCm39) missense probably damaging 1.00
R1224:Sox14 UTSW 9 99,757,168 (GRCm39) missense probably damaging 1.00
R3896:Sox14 UTSW 9 99,757,636 (GRCm39) missense probably damaging 1.00
R4081:Sox14 UTSW 9 99,757,277 (GRCm39) missense possibly damaging 0.83
R4611:Sox14 UTSW 9 99,757,715 (GRCm39) missense probably damaging 0.99
R4767:Sox14 UTSW 9 99,757,686 (GRCm39) missense probably damaging 1.00
R4786:Sox14 UTSW 9 99,757,018 (GRCm39) missense probably benign 0.01
R4814:Sox14 UTSW 9 99,757,284 (GRCm39) missense probably benign 0.00
R9569:Sox14 UTSW 9 99,757,562 (GRCm39) missense
Posted On 2014-01-21