Incidental Mutation 'IGL01697:Sox14'
ID104310
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sox14
Ensembl Gene ENSMUSG00000053747
Gene NameSRY (sex determining region Y)-box 14
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.335) question?
Stock #IGL01697
Quality Score
Status
Chromosome9
Chromosomal Location99874106-99876170 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 99875663 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 8 (I8V)
Ref Sequence ENSEMBL: ENSMUSP00000091310 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054819]
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: 156,119,156 probably benign Het
Arid2 A C 15: 96,361,572 probably null Het
Cadm1 C A 9: 47,850,324 D435E probably damaging Het
Dagla A G 19: 10,271,198 F33L probably benign Het
Edrf1 A G 7: 133,643,730 H199R probably benign Het
F5 T A 1: 164,194,052 N1365K probably benign Het
Fam205c T A 4: 42,874,163 M2L probably benign Het
Gipc2 T G 3: 152,137,608 I131L probably benign Het
Gpc1 C T 1: 92,858,410 S507F possibly damaging Het
Grid1 A G 14: 35,309,257 D269G probably benign Het
Ighv12-3 A T 12: 114,366,953 M1K probably null Het
Kif5b T C 18: 6,226,871 H129R possibly damaging Het
Lipo3 A T 19: 33,559,565 C252S probably damaging Het
Mast4 A C 13: 102,767,893 N645K probably damaging Het
Megf9 T A 4: 70,433,472 T471S possibly damaging Het
Mmrn1 A G 6: 60,976,493 D586G possibly damaging Het
Ninl A T 2: 150,939,947 L1206Q probably damaging Het
Olfr1446 T A 19: 12,890,467 T37S probably benign Het
Olfr45 T C 7: 140,691,652 V249A possibly damaging Het
Olfr765 C A 10: 129,046,502 C187F probably damaging Het
Oog2 T A 4: 144,195,184 N221K possibly damaging Het
Pik3ap1 G A 19: 41,324,579 A365V probably damaging Het
Ppwd1 T C 13: 104,220,464 E181G probably benign Het
Scaf11 A C 15: 96,423,623 probably benign Het
Skint7 T A 4: 111,980,457 probably benign Het
Stim1 A T 7: 102,425,969 probably benign Het
Ttc37 C T 13: 76,128,733 L479F probably benign Het
Ttll3 T C 6: 113,399,729 S357P probably benign Het
Vmn1r178 T A 7: 23,893,689 I54N probably damaging Het
Zdhhc2 T C 8: 40,467,419 probably benign Het
Other mutations in Sox14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01766:Sox14 APN 9 99875116 missense probably damaging 1.00
IGL02147:Sox14 APN 9 99875545 missense probably damaging 1.00
IGL03204:Sox14 APN 9 99875057 missense probably benign 0.00
IGL03367:Sox14 APN 9 99875662 missense probably damaging 1.00
R0420:Sox14 UTSW 9 99875122 missense probably damaging 1.00
R1224:Sox14 UTSW 9 99875115 missense probably damaging 1.00
R3896:Sox14 UTSW 9 99875583 missense probably damaging 1.00
R4081:Sox14 UTSW 9 99875224 missense possibly damaging 0.83
R4611:Sox14 UTSW 9 99875662 missense probably damaging 0.99
R4767:Sox14 UTSW 9 99875633 missense probably damaging 1.00
R4786:Sox14 UTSW 9 99874965 missense probably benign 0.01
R4814:Sox14 UTSW 9 99875231 missense probably benign 0.00
Posted On2014-01-21