Incidental Mutation 'R3896:Sox14'
ID 310549
Institutional Source Beutler Lab
Gene Symbol Sox14
Ensembl Gene ENSMUSG00000053747
Gene Name SRY (sex determining region Y)-box 14
Synonyms
MMRRC Submission 040807-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.326) question?
Stock # R3896 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 99756159-99758223 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 99757636 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 34 (H34Q)
Ref Sequence ENSEMBL: ENSMUSP00000091310 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054819]
AlphaFold Q04892
Predicted Effect probably damaging
Transcript: ENSMUST00000054819
AA Change: H34Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000091310
Gene: ENSMUSG00000053747
AA Change: H34Q

DomainStartEndE-ValueType
HMG 7 77 6.94e-30 SMART
Predicted Effect unknown
Transcript: ENSMUST00000183065
AA Change: H24Q
Meta Mutation Damage Score 0.3722 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 100% (48/48)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503B20Rik A T 3: 146,356,868 (GRCm39) N13K possibly damaging Het
Alas1 G T 9: 106,119,000 (GRCm39) probably null Het
Arhgap20 A T 9: 51,728,137 (GRCm39) I117F probably damaging Het
Asz1 A G 6: 18,075,766 (GRCm39) I269T probably benign Het
Atp8a2 C A 14: 60,263,589 (GRCm39) probably null Het
Atp8b2 A T 3: 89,864,626 (GRCm39) I163K probably damaging Het
Casd1 T A 6: 4,640,980 (GRCm39) F700L probably damaging Het
Ccdc80 A G 16: 44,916,984 (GRCm39) D580G probably benign Het
Cog7 C T 7: 121,540,392 (GRCm39) probably benign Het
Cyp2c66 T C 19: 39,130,722 (GRCm39) V112A possibly damaging Het
D130040H23Rik T A 8: 69,755,610 (GRCm39) C356S probably damaging Het
Emb A G 13: 117,409,598 (GRCm39) *331W probably null Het
Enpp3 A C 10: 24,653,847 (GRCm39) S703R possibly damaging Het
Fam13b T C 18: 34,596,008 (GRCm39) probably benign Het
Foxp1 T A 6: 99,052,897 (GRCm39) Q97L probably benign Het
Gdf10 A T 14: 33,656,438 (GRCm39) N467Y probably damaging Het
Gm29394 C T 15: 57,912,024 (GRCm39) probably benign Het
Gsn T C 2: 35,192,650 (GRCm39) S522P possibly damaging Het
Hydin T A 8: 111,235,711 (GRCm39) F1899I possibly damaging Het
Ints1 C A 5: 139,743,399 (GRCm39) E1658* probably null Het
Jakmip2 A T 18: 43,682,751 (GRCm39) F691Y probably benign Het
Klhl28 A G 12: 65,004,333 (GRCm39) F60S probably damaging Het
Loxhd1 C T 18: 77,469,719 (GRCm39) S992L possibly damaging Het
Lrp1b A T 2: 40,812,440 (GRCm39) probably null Het
Macf1 A T 4: 123,364,987 (GRCm39) I3258N possibly damaging Het
Map4k2 G T 19: 6,391,958 (GRCm39) E91* probably null Het
Matcap1 T A 8: 106,009,920 (GRCm39) H343L probably benign Het
Myo1b A T 1: 51,812,420 (GRCm39) V739E probably damaging Het
Naa35 C T 13: 59,755,109 (GRCm39) T185I probably damaging Het
Or10v9 T C 19: 11,832,951 (GRCm39) D122G probably damaging Het
Or4c15b A G 2: 89,113,441 (GRCm39) F33S possibly damaging Het
Reg4 A T 3: 98,132,082 (GRCm39) probably benign Het
Rnaseh2b A C 14: 62,597,906 (GRCm39) probably benign Het
Rnf123 G A 9: 107,946,302 (GRCm39) probably benign Het
Scn8a A T 15: 100,933,379 (GRCm39) M1528L probably benign Het
Sdr16c5 T A 4: 4,006,609 (GRCm39) T228S probably damaging Het
Sgo2a T C 1: 58,052,805 (GRCm39) C202R probably damaging Het
Slc25a46 A G 18: 31,716,725 (GRCm39) L259P probably damaging Het
Slc4a4 A G 5: 89,345,625 (GRCm39) probably benign Het
Syna T A 5: 134,587,165 (GRCm39) K595* probably null Het
Taf4 A G 2: 179,573,807 (GRCm39) V687A probably benign Het
Tmbim7 C T 5: 3,711,916 (GRCm39) H54Y probably benign Het
Vmn1r212 T C 13: 23,068,067 (GRCm39) M89V probably benign Het
Vmn1r86 T C 7: 12,836,093 (GRCm39) Y261C probably benign Het
Xkr4 A G 1: 3,286,414 (GRCm39) I592T probably damaging Het
Ywhah A G 5: 33,184,349 (GRCm39) Y184C probably damaging Het
Zkscan16 C T 4: 58,946,125 (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
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
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
Predicted Primers PCR Primer
(F):5'- TACCTGTCCTTCTTGAGCAGG -3'
(R):5'- AGGGTCAGCTCTTCTCTCTG -3'

Sequencing Primer
(F):5'- AGCAGGTTCTTCGGCTTGC -3'
(R):5'- TCCGAGACGAGGGGAGTTC -3'
Posted On 2015-04-17