Incidental Mutation 'IGL01761:Sox4'
ID 153567
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sox4
Ensembl Gene ENSMUSG00000076431
Gene Name SRY (sex determining region Y)-box 4
Synonyms Sox-4
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01761
Quality Score
Status
Chromosome 13
Chromosomal Location 29132902-29137682 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 29136790 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 72 (I72N)
Ref Sequence ENSEMBL: ENSMUSP00000100013 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067230]
AlphaFold Q06831
PDB Structure Structure of the Sox4 HMG domain bound to DNA [X-RAY DIFFRACTION]
Predicted Effect possibly damaging
Transcript: ENSMUST00000067230
AA Change: I72N

PolyPhen 2 Score 0.681 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000100013
Gene: ENSMUSG00000076431
AA Change: I72N

DomainStartEndE-ValueType
low complexity region 31 44 N/A INTRINSIC
HMG 58 128 3.66e-29 SMART
low complexity region 132 150 N/A INTRINSIC
low complexity region 157 183 N/A INTRINSIC
low complexity region 233 253 N/A INTRINSIC
internal_repeat_1 268 285 7.33e-5 PROSPERO
internal_repeat_1 278 295 7.33e-5 PROSPERO
low complexity region 304 324 N/A INTRINSIC
low complexity region 330 363 N/A INTRINSIC
low complexity region 364 374 N/A INTRINSIC
low complexity region 377 400 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180992
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, such as syndecan binding protein (syntenin). The protein may function in the apoptosis pathway leading to cell death as well as to tumorigenesis and may mediate downstream effects of parathyroid hormone (PTH) and PTH-related protein (PTHrP) in bone development. The solution structure has been resolved for the HMG-box of a similar mouse protein. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous targeted null mutants die at embryonic day 14 due to circulatory failure and showing impaired development of the semilunar valves and the muscular ventricular septum. Null fetal liver cells are unable to develop into B-cells in chimeric mice. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410137M14Rik T C 17: 37,289,699 (GRCm39) T44A probably damaging Het
A2ml1 T A 6: 128,523,300 (GRCm39) Q1212L possibly damaging Het
A530064D06Rik T C 17: 48,460,127 (GRCm39) S190G possibly damaging Het
AA986860 A G 1: 130,670,459 (GRCm39) H227R possibly damaging Het
Ace C A 11: 105,870,319 (GRCm39) A826E possibly damaging Het
Amigo3 G A 9: 107,930,601 (GRCm39) G8D possibly damaging Het
Angpt1 A T 15: 42,339,863 (GRCm39) F283I possibly damaging Het
Arhgef5 T C 6: 43,251,538 (GRCm39) L763P probably benign Het
Atr T C 9: 95,833,501 (GRCm39) probably benign Het
C4b T A 17: 34,958,912 (GRCm39) M506L possibly damaging Het
Cdc25a T C 9: 109,720,933 (GRCm39) probably benign Het
Dcaf17 T C 2: 70,886,881 (GRCm39) S57P probably damaging Het
Dph5 T A 3: 115,693,362 (GRCm39) D93E probably damaging Het
Fam169a A G 13: 97,228,426 (GRCm39) E33G possibly damaging Het
Fam193b G A 13: 55,697,070 (GRCm39) T340I probably benign Het
Glod4 T C 11: 76,134,428 (GRCm39) N15D probably benign Het
Hrob T C 11: 102,146,422 (GRCm39) C233R probably benign Het
Inpp5k A G 11: 75,538,503 (GRCm39) E102G possibly damaging Het
Kif27 A T 13: 58,485,459 (GRCm39) D500E probably benign Het
Lmntd1 A G 6: 145,379,448 (GRCm39) I15T possibly damaging Het
Lrp2 C T 2: 69,311,579 (GRCm39) R2633H possibly damaging Het
Lrp4 G A 2: 91,312,326 (GRCm39) probably null Het
Lrrc3b A C 14: 15,358,098 (GRCm38) N169K probably benign Het
Marchf7 T C 2: 60,064,539 (GRCm39) S272P probably benign Het
Mier2 A G 10: 79,384,186 (GRCm39) probably null Het
Myo9b G A 8: 71,801,796 (GRCm39) S1307N probably damaging Het
Or4c115 G T 2: 88,927,888 (GRCm39) P128T probably damaging Het
Or5p69 T G 7: 107,967,525 (GRCm39) V276G probably damaging Het
Phkb A T 8: 86,745,693 (GRCm39) M629L probably benign Het
Rergl C A 6: 139,478,863 (GRCm39) V4F probably damaging Het
Rgs22 A T 15: 36,103,897 (GRCm39) I188N probably damaging Het
Rgs3 G T 4: 62,570,946 (GRCm39) probably benign Het
Rpl4 T A 9: 64,082,221 (GRCm39) V40D probably damaging Het
Syne1 A C 10: 5,355,456 (GRCm39) V375G probably damaging Het
Tfrc G T 16: 32,447,369 (GRCm39) D662Y probably damaging Het
Ubqln5 T C 7: 103,777,634 (GRCm39) R397G possibly damaging Het
Unc13d T C 11: 115,964,695 (GRCm39) D257G probably damaging Het
Vmn1r160 A T 7: 22,570,868 (GRCm39) N74Y probably damaging Het
Vmn1r168 T A 7: 23,241,070 (GRCm39) I309N possibly damaging Het
Vmn1r20 T C 6: 57,408,725 (GRCm39) L17P probably damaging Het
Wdr19 A G 5: 65,373,163 (GRCm39) I142V possibly damaging Het
Zan A T 5: 137,423,859 (GRCm39) I2680N unknown Het
Zbtb20 T C 16: 43,431,024 (GRCm39) F512L possibly damaging Het
Other mutations in Sox4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00158:Sox4 APN 13 29,136,956 (GRCm39) missense probably damaging 1.00
IGL00164:Sox4 APN 13 29,136,956 (GRCm39) missense probably damaging 1.00
IGL00229:Sox4 APN 13 29,136,956 (GRCm39) missense probably damaging 1.00
IGL00230:Sox4 APN 13 29,136,956 (GRCm39) missense probably damaging 1.00
IGL00231:Sox4 APN 13 29,136,956 (GRCm39) missense probably damaging 1.00
IGL00232:Sox4 APN 13 29,136,956 (GRCm39) missense probably damaging 1.00
IGL00310:Sox4 APN 13 29,136,956 (GRCm39) missense probably damaging 1.00
IGL00333:Sox4 APN 13 29,136,956 (GRCm39) missense probably damaging 1.00
IGL00335:Sox4 APN 13 29,136,956 (GRCm39) missense probably damaging 1.00
IGL01293:Sox4 APN 13 29,136,664 (GRCm39) missense probably damaging 1.00
R0594:Sox4 UTSW 13 29,136,887 (GRCm39) missense probably damaging 1.00
R1896:Sox4 UTSW 13 29,136,127 (GRCm39) missense probably damaging 1.00
R1969:Sox4 UTSW 13 29,136,631 (GRCm39) missense probably damaging 1.00
R2051:Sox4 UTSW 13 29,136,764 (GRCm39) missense probably damaging 1.00
R2235:Sox4 UTSW 13 29,136,613 (GRCm39) missense probably damaging 1.00
R5855:Sox4 UTSW 13 29,136,979 (GRCm39) missense probably damaging 1.00
R7177:Sox4 UTSW 13 29,137,000 (GRCm39) missense probably damaging 1.00
R8811:Sox4 UTSW 13 29,136,911 (GRCm39) missense probably damaging 0.99
R9557:Sox4 UTSW 13 29,136,913 (GRCm39) missense probably damaging 0.99
R9614:Sox4 UTSW 13 29,136,079 (GRCm39) missense probably damaging 1.00
Posted On 2014-02-04