Incidental Mutation 'IGL02147:Sox14'
ID 281804
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 # IGL02147
Quality Score
Status
Chromosome 9
Chromosomal Location 99756159-99758223 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 99757598 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 47 (K47R)
Ref Sequence ENSEMBL: ENSMUSP00000091310 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054819]
AlphaFold Q04892
Predicted Effect probably damaging
Transcript: ENSMUST00000054819
AA Change: K47R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000091310
Gene: ENSMUSG00000053747
AA Change: K47R

DomainStartEndE-ValueType
HMG 7 77 6.94e-30 SMART
Predicted Effect unknown
Transcript: ENSMUST00000183065
AA Change: K37R
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700021P04Rik T C 19: 24,042,327 (GRCm39) noncoding transcript Het
Acadsb T A 7: 131,027,610 (GRCm39) probably benign Het
Ambra1 A G 2: 91,598,064 (GRCm39) H75R probably benign Het
Arhgef28 T A 13: 98,097,822 (GRCm39) I931F probably damaging Het
Cdk5 T C 5: 24,625,318 (GRCm39) N165D probably benign Het
Col4a2 A T 8: 11,458,140 (GRCm39) Y272F probably benign Het
Csde1 T A 3: 102,947,250 (GRCm39) D67E probably damaging Het
Dhx34 T C 7: 15,937,928 (GRCm39) H724R probably benign Het
Dhx57 T C 17: 80,567,752 (GRCm39) D777G possibly damaging Het
Fat3 A C 9: 15,907,281 (GRCm39) V2907G probably damaging Het
Fst T C 13: 114,590,896 (GRCm39) Y290C probably damaging Het
Ighg2b A T 12: 113,270,011 (GRCm39) *336R probably null Het
Igkv4-92 C T 6: 68,732,236 (GRCm39) S46N probably damaging Het
Kdm2b C T 5: 123,085,898 (GRCm39) E238K probably damaging Het
Lgalsl2 T A 7: 5,362,732 (GRCm39) I121N probably damaging Het
Lmtk2 A G 5: 144,093,754 (GRCm39) M244V possibly damaging Het
Mcoln1 T C 8: 3,558,379 (GRCm39) F211S probably benign Het
Mib2 C A 4: 155,742,144 (GRCm39) R209L probably benign Het
Msx3 C A 7: 139,628,798 (GRCm39) V39L possibly damaging Het
Mtnr1b A G 9: 15,774,672 (GRCm39) F129S probably damaging Het
Nr3c2 A G 8: 77,635,696 (GRCm39) S266G probably damaging Het
Nup160 G T 2: 90,534,285 (GRCm39) L703F probably benign Het
Or10c1 T A 17: 37,521,877 (GRCm39) Y289F probably damaging Het
Or5t5 A G 2: 86,616,494 (GRCm39) N140S probably benign Het
Pcyt1a T A 16: 32,280,916 (GRCm39) N105K probably damaging Het
Pdhx A G 2: 102,860,686 (GRCm39) probably benign Het
Qpct T C 17: 79,378,145 (GRCm39) V105A probably damaging Het
Ros1 A C 10: 51,996,991 (GRCm39) F1227C probably damaging Het
Rrp12 A T 19: 41,874,620 (GRCm39) V342E probably damaging Het
Sart3 A G 5: 113,901,004 (GRCm39) probably benign Het
Slc6a18 T A 13: 73,816,281 (GRCm39) K366M probably damaging Het
Smarca4 A G 9: 21,546,999 (GRCm39) N175D probably damaging Het
Trcg1 A T 9: 57,153,132 (GRCm39) I592F probably benign Het
Ush2a T C 1: 188,596,900 (GRCm39) M3880T probably benign Het
Usp20 T C 2: 30,896,413 (GRCm39) F172S probably damaging Het
Vmn2r4 C T 3: 64,305,782 (GRCm39) probably benign Het
Other mutations in Sox14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01697:Sox14 APN 9 99,757,716 (GRCm39) missense probably benign 0.45
IGL01766:Sox14 APN 9 99,757,169 (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 2015-04-16