Incidental Mutation 'IGL00898:Sox30'
ID 28471
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 # IGL00898
Quality Score
Status
Chromosome 11
Chromosomal Location 45871137-45908821 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 45882727 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 586 (F586I)
Ref Sequence ENSEMBL: ENSMUSP00000037519 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049038]
AlphaFold Q8CGW4
Predicted Effect possibly damaging
Transcript: ENSMUST00000049038
AA Change: F586I

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000037519
Gene: ENSMUSG00000040489
AA Change: F586I

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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a G A 5: 8,783,690 (GRCm39) G956S probably damaging Het
Alpk2 G T 18: 65,483,644 (GRCm39) D121E probably benign Het
Apc A G 18: 34,450,147 (GRCm39) T2314A probably damaging Het
Arhgef11 T C 3: 87,636,810 (GRCm39) L990P probably damaging Het
Ccar1 T A 10: 62,589,013 (GRCm39) K823N unknown Het
Celsr2 C T 3: 108,321,195 (GRCm39) R539H possibly damaging Het
Clca3b A G 3: 144,550,389 (GRCm39) probably benign Het
Cpxcr1 T C X: 115,387,407 (GRCm39) L106S possibly damaging Het
Edc4 T A 8: 106,607,755 (GRCm39) L16Q probably damaging Het
Emc1 A G 4: 139,098,941 (GRCm39) E808G probably damaging Het
Epha6 A T 16: 59,595,904 (GRCm39) probably null Het
Epha7 G A 4: 28,938,693 (GRCm39) R516Q probably damaging Het
Fancm T C 12: 65,152,774 (GRCm39) S1077P probably benign Het
Gm4952 C T 19: 12,595,772 (GRCm39) T54I probably damaging Het
Hnrnpm C A 17: 33,868,876 (GRCm39) R517L probably damaging Het
Il1b T C 2: 129,209,253 (GRCm39) R126G possibly damaging Het
Kin G A 2: 10,085,515 (GRCm39) R25H probably damaging Het
Kin T C 2: 10,085,517 (GRCm39) W26R probably damaging Het
Lamb3 A T 1: 193,021,191 (GRCm39) T923S possibly damaging Het
Lrp6 C T 6: 134,456,702 (GRCm39) S854N probably damaging Het
Ltv1 A G 10: 13,058,031 (GRCm39) F258L probably damaging Het
Mcm3ap T C 10: 76,306,159 (GRCm39) S91P probably benign Het
Msra A G 14: 64,360,774 (GRCm39) I125T probably damaging Het
Nr0b1 A T X: 85,236,077 (GRCm39) Q224L probably benign Het
Nr2e1 T A 10: 42,444,449 (GRCm39) D220V probably damaging Het
Nup160 C A 2: 90,523,450 (GRCm39) H351Q probably damaging Het
Or5b96 T A 19: 12,867,282 (GRCm39) M220L probably benign Het
Pcdh12 C A 18: 38,414,510 (GRCm39) V872L probably benign Het
Pcnx2 T A 8: 126,614,324 (GRCm39) S376C probably damaging Het
Pkd2 A G 5: 104,631,001 (GRCm39) E475G probably damaging Het
Psg22 A G 7: 18,458,392 (GRCm39) Y322C probably damaging Het
Rgl2 T C 17: 34,152,392 (GRCm39) I363T possibly damaging Het
Rimklb G T 6: 122,433,590 (GRCm39) Q187K possibly damaging Het
Sectm1b A T 11: 120,947,075 (GRCm39) W17R probably damaging Het
Snu13 C A 15: 81,926,516 (GRCm39) A60S probably benign Het
Tnfsfm13 C A 11: 69,575,127 (GRCm39) V220L probably benign Het
Ttn A T 2: 76,593,117 (GRCm39) V20711E probably damaging Het
Vmn2r116 A G 17: 23,604,969 (GRCm39) N94S possibly damaging Het
Yipf2 T C 9: 21,503,820 (GRCm39) probably null Het
Zzef1 T C 11: 72,765,999 (GRCm39) S1509P probably benign Het
Other mutations in Sox30
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL03403:Sox30 APN 11 45,908,035 (GRCm39) missense probably damaging 1.00
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 2013-04-17