Incidental Mutation 'IGL02147:Sox14'
ID281804
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: 0.405) question?
Stock #IGL02147
Quality Score
Status
Chromosome9
Chromosomal Location99874106-99876170 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 99875545 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Arginine at position 47 (K47R)
Ref Sequence ENSEMBL: ENSMUSP00000091310 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054819]
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: 24,064,963 noncoding transcript Het
Acadsb T A 7: 131,425,881 probably benign Het
Ambra1 A G 2: 91,767,719 H75R probably benign Het
Arhgef28 T A 13: 97,961,314 I931F probably damaging Het
Cdk5 T C 5: 24,420,320 N165D probably benign Het
Col4a2 A T 8: 11,408,140 Y272F probably benign Het
Csde1 T A 3: 103,039,934 D67E probably damaging Het
Dhx34 T C 7: 16,204,003 H724R probably benign Het
Dhx57 T C 17: 80,260,323 D777G possibly damaging Het
Fat3 A C 9: 15,995,985 V2907G probably damaging Het
Fst T C 13: 114,454,360 Y290C probably damaging Het
Gm5065 T A 7: 5,359,733 I121N probably damaging Het
Ighg2b A T 12: 113,306,391 *336R probably null Het
Igkv4-92 C T 6: 68,755,252 S46N probably damaging Het
Kdm2b C T 5: 122,947,835 E238K probably damaging Het
Lmtk2 A G 5: 144,156,936 M244V possibly damaging Het
Mcoln1 T C 8: 3,508,379 F211S probably benign Het
Mib2 C A 4: 155,657,687 R209L probably benign Het
Msx3 C A 7: 140,048,885 V39L possibly damaging Het
Mtnr1b A G 9: 15,863,376 F129S probably damaging Het
Nr3c2 A G 8: 76,909,067 S266G probably damaging Het
Nup160 G T 2: 90,703,941 L703F probably benign Het
Olfr1093 A G 2: 86,786,150 N140S probably benign Het
Olfr95 T A 17: 37,210,986 Y289F probably damaging Het
Pcyt1a T A 16: 32,462,098 N105K probably damaging Het
Pdhx A G 2: 103,030,341 probably benign Het
Qpct T C 17: 79,070,716 V105A probably damaging Het
Ros1 A C 10: 52,120,895 F1227C probably damaging Het
Rrp12 A T 19: 41,886,181 V342E probably damaging Het
Sart3 A G 5: 113,762,943 probably benign Het
Slc6a18 T A 13: 73,668,162 K366M probably damaging Het
Smarca4 A G 9: 21,635,703 N175D probably damaging Het
Trcg1 A T 9: 57,245,849 I592F probably benign Het
Ush2a T C 1: 188,864,703 M3880T probably benign Het
Usp20 T C 2: 31,006,401 F172S probably damaging Het
Vmn2r4 C T 3: 64,398,361 probably benign Het
Other mutations in Sox14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01697:Sox14 APN 9 99875663 missense probably benign 0.45
IGL01766:Sox14 APN 9 99875116 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 On2015-04-16