Incidental Mutation 'IGL01766:Sox14'
ID 153669
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: 0.326) question?
Stock # IGL01766
Quality Score
Status
Chromosome 9
Chromosomal Location 99756159-99758223 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 99757169 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 190 (H190L)
Ref Sequence ENSEMBL: ENSMUSP00000091310 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054819]
AlphaFold Q04892
Predicted Effect probably damaging
Transcript: ENSMUST00000054819
AA Change: H190L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000091310
Gene: ENSMUSG00000053747
AA Change: H190L

DomainStartEndE-ValueType
HMG 7 77 6.94e-30 SMART
Predicted Effect unknown
Transcript: ENSMUST00000183065
AA Change: H126L
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330159F19Rik A G 10: 29,100,557 (GRCm39) D310G probably benign Het
Ahnak A G 19: 8,977,482 (GRCm39) T7A unknown Het
Arhgap21 T A 2: 20,854,448 (GRCm39) D1648V possibly damaging Het
Cd274 T C 19: 29,362,810 (GRCm39) *291Q probably null Het
Ceacam1 G A 7: 25,171,420 (GRCm39) S348L probably damaging Het
Dcaf13 T C 15: 38,982,145 (GRCm39) V37A probably benign Het
Degs1 A T 1: 182,106,660 (GRCm39) F200I probably damaging Het
Dock4 G T 12: 40,496,378 (GRCm39) E8* probably null Het
Dsc2 G A 18: 20,179,399 (GRCm39) P223L possibly damaging Het
Exo1 A G 1: 175,719,587 (GRCm39) T171A possibly damaging Het
Gen1 C T 12: 11,306,895 (GRCm39) D92N probably damaging Het
Gm572 A T 4: 148,739,352 (GRCm39) H60L possibly damaging Het
Gucy2c T C 6: 136,692,971 (GRCm39) T719A probably benign Het
Heatr5a T C 12: 51,936,447 (GRCm39) S1575G probably benign Het
Hspa12a T C 19: 58,787,899 (GRCm39) E641G probably damaging Het
Itgb4 G A 11: 115,879,752 (GRCm39) V635I probably damaging Het
Luzp1 T C 4: 136,270,084 (GRCm39) I769T possibly damaging Het
Map2k5 C T 9: 63,284,509 (GRCm39) A11T probably benign Het
Myo9b A G 8: 71,743,161 (GRCm39) E74G probably damaging Het
Myom1 T C 17: 71,384,283 (GRCm39) V666A probably damaging Het
Or1e29 T A 11: 73,667,901 (GRCm39) N84I probably benign Het
Or2n1 G T 17: 38,486,577 (GRCm39) V201L probably benign Het
Or5ak4 A G 2: 85,161,945 (GRCm39) L99S probably benign Het
Or6c69 A G 10: 129,747,649 (GRCm39) F166S probably damaging Het
Plekhg1 A G 10: 3,823,400 (GRCm39) T123A probably damaging Het
Polrmt T C 10: 79,572,402 (GRCm39) E1077G possibly damaging Het
Ptprh A G 7: 4,583,915 (GRCm39) W226R probably benign Het
Robo1 A G 16: 72,801,553 (GRCm39) H1059R probably benign Het
Sesn1 A G 10: 41,774,365 (GRCm39) T306A probably benign Het
Spag8 G T 4: 43,653,209 (GRCm39) probably benign Het
Tomm40 T C 7: 19,437,007 (GRCm39) H20R possibly damaging Het
Znhit3 G T 11: 84,806,959 (GRCm39) probably benign Het
Other mutations in Sox14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01697:Sox14 APN 9 99,757,716 (GRCm39) missense probably benign 0.45
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 2014-02-04