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
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.370) question?
Stock # IGL01697
Quality Score
Chromosome 9
Chromosomal Location 99874106-99876170 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 99875663 bp (GRCm38)
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

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: 156,119,156 (GRCm38) probably benign Het
Arid2 A C 15: 96,361,572 (GRCm38) probably null Het
Cadm1 C A 9: 47,850,324 (GRCm38) D435E probably damaging Het
Dagla A G 19: 10,271,198 (GRCm38) F33L probably benign Het
Edrf1 A G 7: 133,643,730 (GRCm38) H199R probably benign Het
F5 T A 1: 164,194,052 (GRCm38) N1365K probably benign Het
Fam205c T A 4: 42,874,163 (GRCm38) M2L probably benign Het
Gipc2 T G 3: 152,137,608 (GRCm38) I131L probably benign Het
Gpc1 C T 1: 92,858,410 (GRCm38) S507F possibly damaging Het
Grid1 A G 14: 35,309,257 (GRCm38) D269G probably benign Het
Ighv12-3 A T 12: 114,366,953 (GRCm38) M1K probably null Het
Kif5b T C 18: 6,226,871 (GRCm38) H129R possibly damaging Het
Lipo3 A T 19: 33,559,565 (GRCm38) C252S probably damaging Het
Mast4 A C 13: 102,767,893 (GRCm38) N645K probably damaging Het
Megf9 T A 4: 70,433,472 (GRCm38) T471S possibly damaging Het
Mmrn1 A G 6: 60,976,493 (GRCm38) D586G possibly damaging Het
Ninl A T 2: 150,939,947 (GRCm38) L1206Q probably damaging Het
Olfr1446 T A 19: 12,890,467 (GRCm38) T37S probably benign Het
Olfr45 T C 7: 140,691,652 (GRCm38) V249A possibly damaging Het
Olfr765 C A 10: 129,046,502 (GRCm38) C187F probably damaging Het
Oog2 T A 4: 144,195,184 (GRCm38) N221K possibly damaging Het
Pik3ap1 G A 19: 41,324,579 (GRCm38) A365V probably damaging Het
Ppwd1 T C 13: 104,220,464 (GRCm38) E181G probably benign Het
Scaf11 A C 15: 96,423,623 (GRCm38) probably benign Het
Skint7 T A 4: 111,980,457 (GRCm38) probably benign Het
Stim1 A T 7: 102,425,969 (GRCm38) probably benign Het
Ttc37 C T 13: 76,128,733 (GRCm38) L479F probably benign Het
Ttll3 T C 6: 113,399,729 (GRCm38) S357P probably benign Het
Vmn1r178 T A 7: 23,893,689 (GRCm38) I54N probably damaging Het
Zdhhc2 T C 8: 40,467,419 (GRCm38) probably benign Het
Other mutations in Sox14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01766:Sox14 APN 9 99,875,116 (GRCm38) missense probably damaging 1.00
IGL02147:Sox14 APN 9 99,875,545 (GRCm38) missense probably damaging 1.00
IGL03204:Sox14 APN 9 99,875,057 (GRCm38) missense probably benign 0.00
IGL03367:Sox14 APN 9 99,875,662 (GRCm38) missense probably damaging 1.00
R0420:Sox14 UTSW 9 99,875,122 (GRCm38) missense probably damaging 1.00
R1224:Sox14 UTSW 9 99,875,115 (GRCm38) missense probably damaging 1.00
R3896:Sox14 UTSW 9 99,875,583 (GRCm38) missense probably damaging 1.00
R4081:Sox14 UTSW 9 99,875,224 (GRCm38) missense possibly damaging 0.83
R4611:Sox14 UTSW 9 99,875,662 (GRCm38) missense probably damaging 0.99
R4767:Sox14 UTSW 9 99,875,633 (GRCm38) missense probably damaging 1.00
R4786:Sox14 UTSW 9 99,874,965 (GRCm38) missense probably benign 0.01
R4814:Sox14 UTSW 9 99,875,231 (GRCm38) missense probably benign 0.00
R9569:Sox14 UTSW 9 99,875,509 (GRCm38) missense
Posted On 2014-01-21