Incidental Mutation 'IGL03403:Sox30'
ID421499
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sox30
Ensembl Gene ENSMUSG00000040489
Gene NameSRY (sex determining region Y)-box 30
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03403
Quality Score
Status
Chromosome11
Chromosomal Location45980310-46017994 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 46017208 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Valine at position 734 (E734V)
Ref Sequence ENSEMBL: ENSMUSP00000037519 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049038]
Predicted Effect probably damaging
Transcript: ENSMUST00000049038
AA Change: E734V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000037519
Gene: ENSMUSG00000040489
AA Change: E734V

DomainStartEndE-ValueType
low complexity region 3 36 N/A INTRINSIC
low complexity region 38 49 N/A INTRINSIC
low complexity region 50 80 N/A INTRINSIC
low complexity region 92 104 N/A INTRINSIC
low complexity region 110 141 N/A INTRINSIC
low complexity region 210 220 N/A INTRINSIC
HMG 365 435 8.35e-24 SMART
low complexity region 523 539 N/A INTRINSIC
Blast:Pept_C1 572 734 1e-92 BLAST
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This 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 acts as a transcriptional regulator when present in a complex with other proteins. It can activate p53 transcription to promote tumor cell apoptosis in lung cancer. The protein may be involved in the differentiation of developing male germ cells. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 5. [provided by RefSeq, Apr 2015]
PHENOTYPE: Male mice homozygous for a null allele are infertile with arrest of spermiogenesis and azoospermia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik A C 15: 8,201,342 K1034N probably damaging Het
Adamts12 T A 15: 11,241,488 I382N probably damaging Het
Adamts5 T C 16: 85,863,014 T797A probably damaging Het
Ahr A T 12: 35,504,326 V598E possibly damaging Het
Akap10 A G 11: 61,915,273 S210P probably benign Het
Asb5 G T 8: 54,583,547 probably benign Het
AU041133 T C 10: 82,138,344 V31A probably damaging Het
Bcar3 T C 3: 122,512,969 V197A probably benign Het
Bptf A G 11: 107,099,733 V510A possibly damaging Het
Ccar2 A T 14: 70,140,068 D712E probably damaging Het
Cenpt G A 8: 105,849,665 Q85* probably null Het
Ciita C A 16: 10,503,872 H98N probably damaging Het
Csn1s1 T A 5: 87,667,293 M16K probably benign Het
Fah A G 7: 84,593,209 I297T probably damaging Het
Fbxo25 A G 8: 13,929,423 N214D probably benign Het
Frem3 A C 8: 80,611,090 D4A probably benign Het
Gm12800 T C 4: 101,909,928 S125P probably benign Het
Gm3409 A G 5: 146,539,524 K162E probably benign Het
Gxylt1 T C 15: 93,261,775 D148G possibly damaging Het
Hoxd4 A T 2: 74,728,337 E168V possibly damaging Het
Ifna6 A G 4: 88,827,458 S15G possibly damaging Het
Iqck T A 7: 118,876,271 H97Q probably benign Het
Kif16b T A 2: 142,711,869 E1003V probably damaging Het
Lrp1b G A 2: 40,702,824 P3761L probably benign Het
Mc4r C T 18: 66,859,526 C172Y possibly damaging Het
Olfr373 A G 8: 72,100,497 T246A probably benign Het
Oosp1 T A 19: 11,687,380 N104I probably damaging Het
Pram1 A T 17: 33,642,143 I513F probably damaging Het
Rasef A G 4: 73,734,534 S577P probably damaging Het
Rfx8 T C 1: 39,690,173 D144G possibly damaging Het
Rreb1 A C 13: 37,929,574 N303T possibly damaging Het
Rrn3 A T 16: 13,799,945 K351* probably null Het
Spns1 C T 7: 126,371,536 probably null Het
Tgfbr2 T A 9: 116,110,302 E177D probably benign Het
Tnfaip8l3 A G 9: 54,027,457 M78T possibly damaging Het
Vmn2r92 C T 17: 18,166,852 T151I probably damaging Het
Wwc1 A G 11: 35,915,284 Y41H possibly damaging Het
Zfp407 A T 18: 84,560,797 N730K probably damaging Het
Other mutations in Sox30
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00898:Sox30 APN 11 45991900 missense possibly damaging 0.95
IGL01449:Sox30 APN 11 45981342 missense probably damaging 1.00
IGL02411:Sox30 APN 11 45981124 nonsense probably null
IGL02601:Sox30 APN 11 45984762 missense possibly damaging 0.81
IGL02747:Sox30 APN 11 45980945 missense probably benign 0.00
R0104:Sox30 UTSW 11 45981314 missense possibly damaging 0.93
R1450:Sox30 UTSW 11 46017271 missense probably damaging 0.99
R2109:Sox30 UTSW 11 45991768 missense probably damaging 0.99
R2213:Sox30 UTSW 11 45984852 missense probably damaging 1.00
R3715:Sox30 UTSW 11 45984792 missense probably damaging 0.99
R4111:Sox30 UTSW 11 46017214 missense probably benign 0.09
R4723:Sox30 UTSW 11 45984765 missense probably benign 0.03
R5014:Sox30 UTSW 11 45991909 missense probably benign 0.01
R5408:Sox30 UTSW 11 45991867 missense possibly damaging 0.54
R5974:Sox30 UTSW 11 45981073 missense probably damaging 0.99
R6063:Sox30 UTSW 11 45991942 missense probably benign 0.04
R6948:Sox30 UTSW 11 46017339 missense probably damaging 1.00
R7242:Sox30 UTSW 11 45984520 intron probably null
R7258:Sox30 UTSW 11 45980552 missense unknown
Posted On2016-08-02