Incidental Mutation 'IGL02411:Sox30'
ID292298
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? Probably non essential (E-score: 0.121) question?
Stock #IGL02411
Quality Score
Status
Chromosome11
Chromosomal Location45980310-46017994 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to T at 45981124 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Stop codon at position 269 (K269*)
Ref Sequence ENSEMBL: ENSMUSP00000037519 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049038]
Predicted Effect probably null
Transcript: ENSMUST00000049038
AA Change: K269*
SMART Domains Protein: ENSMUSP00000037519
Gene: ENSMUSG00000040489
AA Change: K269*

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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik A G 5: 63,898,116 E65G probably benign Het
Abcc8 G A 7: 46,107,007 R1425C probably damaging Het
Adcy3 A T 12: 4,209,407 N895Y probably null Het
AI661453 T G 17: 47,467,338 L663R probably benign Het
Arhgef10 A T 8: 14,954,819 Y445F probably benign Het
Atrx G T X: 105,830,981 S1924R possibly damaging Het
Clca1 T C 3: 145,028,002 T58A possibly damaging Het
Clec1b A G 6: 129,401,841 Y129C probably damaging Het
Cobll1 A G 2: 65,097,740 S1080P probably damaging Het
Crb1 C A 1: 139,248,475 C590F probably damaging Het
Crim1 C T 17: 78,335,334 R494* probably null Het
Cyp3a25 A T 5: 146,001,447 probably benign Het
Dntt T A 19: 41,052,985 probably null Het
Gjb1 T C X: 101,385,005 C280R probably damaging Het
Glp1r T A 17: 30,924,511 C174S probably damaging Het
Gm5414 A T 15: 101,627,834 Y119N probably benign Het
Gm9631 G A 11: 121,943,652 probably null Het
Gm9796 G T 11: 95,697,930 noncoding transcript Het
Gm9956 T C 10: 56,745,292 F17L unknown Het
Il1rap A T 16: 26,710,616 D396V probably damaging Het
Impa1 T C 3: 10,322,958 K135E possibly damaging Het
Iqub G A 6: 24,449,811 A685V probably damaging Het
Jade3 T C X: 20,512,824 V512A probably benign Het
Kif3a C A 11: 53,570,698 P57T probably damaging Het
Kndc1 G T 7: 139,921,913 probably null Het
Lyst G A 13: 13,660,956 C1741Y probably benign Het
Maged2 G T X: 150,809,759 D343E probably benign Het
Magi2 T C 5: 19,678,709 S120P probably damaging Het
Nxph3 A T 11: 95,510,830 *253R probably null Het
Oog2 A T 4: 144,195,048 H194L probably damaging Het
Pcbd2 T G 13: 55,732,951 W40G probably benign Het
Pcdhb14 T G 18: 37,449,770 L643R possibly damaging Het
Plch1 G T 3: 63,697,756 R1567S probably null Het
Poln G T 5: 34,113,322 S455* probably null Het
Ppp2r1a T C 17: 20,951,334 probably benign Het
Rsu1 T G 2: 13,077,497 probably benign Het
Serpina10 A T 12: 103,616,943 M360K possibly damaging Het
Thbs1 T C 2: 118,114,970 V310A probably benign Het
Tie1 C A 4: 118,486,563 E61* probably null Het
Tm2d1 G T 4: 98,380,674 P62Q probably damaging Het
Tpp1 G T 7: 105,749,619 P201Q probably damaging Het
Trim13 A G 14: 61,605,149 E205G 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
IGL02601:Sox30 APN 11 45984762 missense possibly damaging 0.81
IGL02747:Sox30 APN 11 45980945 missense probably benign 0.00
IGL03403:Sox30 APN 11 46017208 missense probably damaging 1.00
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
Posted OnApr 16, 2015