Incidental Mutation 'IGL03403:Sox30'
ID 421499
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sox30
Ensembl Gene ENSMUSG00000040489
Gene Name SRY (sex determining region Y)-box 30
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03403
Quality Score
Status
Chromosome 11
Chromosomal Location 45871137-45908821 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 45908035 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q8CGW4
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
Adamts12 T A 15: 11,241,574 (GRCm39) I382N probably damaging Het
Adamts5 T C 16: 85,659,902 (GRCm39) T797A probably damaging Het
Ahr A T 12: 35,554,325 (GRCm39) V598E possibly damaging Het
Akap10 A G 11: 61,806,099 (GRCm39) S210P probably benign Het
Asb5 G T 8: 55,036,582 (GRCm39) probably benign Het
AU041133 T C 10: 81,974,178 (GRCm39) V31A probably damaging Het
Bcar3 T C 3: 122,306,618 (GRCm39) V197A probably benign Het
Bptf A G 11: 106,990,559 (GRCm39) V510A possibly damaging Het
Ccar2 A T 14: 70,377,517 (GRCm39) D712E probably damaging Het
Cenpt G A 8: 106,576,297 (GRCm39) Q85* probably null Het
Ciita C A 16: 10,321,736 (GRCm39) H98N probably damaging Het
Cplane1 A C 15: 8,230,826 (GRCm39) K1034N probably damaging Het
Csn1s1 T A 5: 87,815,152 (GRCm39) M16K probably benign Het
Fah A G 7: 84,242,417 (GRCm39) I297T probably damaging Het
Fbxo25 A G 8: 13,979,423 (GRCm39) N214D probably benign Het
Frem3 A C 8: 81,337,719 (GRCm39) D4A probably benign Het
Gm3409 A G 5: 146,476,334 (GRCm39) K162E probably benign Het
Gxylt1 T C 15: 93,159,656 (GRCm39) D148G possibly damaging Het
Hoxd4 A T 2: 74,558,681 (GRCm39) E168V possibly damaging Het
Ifna6 A G 4: 88,745,695 (GRCm39) S15G possibly damaging Het
Iqck T A 7: 118,475,494 (GRCm39) H97Q probably benign Het
Kif16b T A 2: 142,553,789 (GRCm39) E1003V probably damaging Het
Lrp1b G A 2: 40,592,836 (GRCm39) P3761L probably benign Het
Mc4r C T 18: 66,992,597 (GRCm39) C172Y possibly damaging Het
Oosp1 T A 19: 11,664,744 (GRCm39) N104I probably damaging Het
Or2z9 A G 8: 72,854,341 (GRCm39) T246A probably benign Het
Pram1 A T 17: 33,861,117 (GRCm39) I513F probably damaging Het
Pramel18 T C 4: 101,767,125 (GRCm39) S125P probably benign Het
Rasef A G 4: 73,652,771 (GRCm39) S577P probably damaging Het
Rfx8 T C 1: 39,729,333 (GRCm39) D144G possibly damaging Het
Rreb1 A C 13: 38,113,550 (GRCm39) N303T possibly damaging Het
Rrn3 A T 16: 13,617,809 (GRCm39) K351* probably null Het
Spns1 C T 7: 125,970,708 (GRCm39) probably null Het
Tgfbr2 T A 9: 115,939,370 (GRCm39) E177D probably benign Het
Tnfaip8l3 A G 9: 53,934,741 (GRCm39) M78T possibly damaging Het
Vmn2r92 C T 17: 18,387,114 (GRCm39) T151I probably damaging Het
Wwc1 A G 11: 35,806,111 (GRCm39) Y41H possibly damaging Het
Zfp407 A T 18: 84,578,922 (GRCm39) N730K probably damaging Het
Other mutations in Sox30
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00898:Sox30 APN 11 45,882,727 (GRCm39) missense possibly damaging 0.95
IGL01449:Sox30 APN 11 45,872,169 (GRCm39) missense probably damaging 1.00
IGL02411:Sox30 APN 11 45,871,951 (GRCm39) nonsense probably null
IGL02601:Sox30 APN 11 45,875,589 (GRCm39) missense possibly damaging 0.81
IGL02747:Sox30 APN 11 45,871,772 (GRCm39) missense probably benign 0.00
R0104:Sox30 UTSW 11 45,872,141 (GRCm39) missense possibly damaging 0.93
R1450:Sox30 UTSW 11 45,908,098 (GRCm39) missense probably damaging 0.99
R2109:Sox30 UTSW 11 45,882,595 (GRCm39) missense probably damaging 0.99
R2213:Sox30 UTSW 11 45,875,679 (GRCm39) missense probably damaging 1.00
R3715:Sox30 UTSW 11 45,875,619 (GRCm39) missense probably damaging 0.99
R4111:Sox30 UTSW 11 45,908,041 (GRCm39) missense probably benign 0.09
R4723:Sox30 UTSW 11 45,875,592 (GRCm39) missense probably benign 0.03
R5014:Sox30 UTSW 11 45,882,736 (GRCm39) missense probably benign 0.01
R5408:Sox30 UTSW 11 45,882,694 (GRCm39) missense possibly damaging 0.54
R5974:Sox30 UTSW 11 45,871,900 (GRCm39) missense probably damaging 0.99
R6063:Sox30 UTSW 11 45,882,769 (GRCm39) missense probably benign 0.04
R6948:Sox30 UTSW 11 45,908,166 (GRCm39) missense probably damaging 1.00
R7242:Sox30 UTSW 11 45,875,347 (GRCm39) splice site probably null
R7258:Sox30 UTSW 11 45,871,379 (GRCm39) missense unknown
R8195:Sox30 UTSW 11 45,882,592 (GRCm39) missense probably benign 0.00
R9205:Sox30 UTSW 11 45,908,180 (GRCm39) missense probably damaging 1.00
R9605:Sox30 UTSW 11 45,875,640 (GRCm39) missense possibly damaging 0.90
Posted On 2016-08-02