Incidental Mutation 'IGL02411:Sox30'
ID 292298
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 # IGL02411
Quality Score
Status
Chromosome 11
Chromosomal Location 45871137-45908821 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 45871951 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q8CGW4
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: 64,055,459 (GRCm39) E65G probably benign Het
Abcc8 G A 7: 45,756,431 (GRCm39) R1425C probably damaging Het
Adcy3 A T 12: 4,259,407 (GRCm39) probably null Het
AI661453 T G 17: 47,778,263 (GRCm39) probably benign Het
Arhgef10 A T 8: 15,004,819 (GRCm39) Y445F probably benign Het
Atrx G T X: 104,874,587 (GRCm39) S1924R possibly damaging Het
Clca3a1 T C 3: 144,733,763 (GRCm39) T58A possibly damaging Het
Clec1b A G 6: 129,378,804 (GRCm39) Y97C probably damaging Het
Cobll1 A G 2: 64,928,084 (GRCm39) S1080P probably damaging Het
Crb1 C A 1: 139,176,213 (GRCm39) C529F probably damaging Het
Crim1 C T 17: 78,642,763 (GRCm39) R494* probably null Het
Cyp3a25 A T 5: 145,938,257 (GRCm39) probably benign Het
Dntt T A 19: 41,041,424 (GRCm39) probably null Het
Gjb1 T C X: 100,428,611 (GRCm39) C280R probably damaging Het
Glp1r T A 17: 31,143,485 (GRCm39) C174S probably damaging Het
Gm5414 A T 15: 101,536,269 (GRCm39) Y119N probably benign Het
Gm9631 G A 11: 121,834,478 (GRCm39) Het
Gm9796 G T 11: 95,588,756 (GRCm39) noncoding transcript Het
Gm9956 T C 10: 56,621,388 (GRCm39) F17L unknown Het
Il1rap A T 16: 26,529,366 (GRCm39) D396V probably damaging Het
Impa1 T C 3: 10,388,018 (GRCm39) K135E possibly damaging Het
Iqub G A 6: 24,449,810 (GRCm39) A685V probably damaging Het
Jade3 T C X: 20,379,063 (GRCm39) V512A probably benign Het
Kif3a C A 11: 53,461,525 (GRCm39) P57T probably damaging Het
Kndc1 G T 7: 139,501,829 (GRCm39) probably null Het
Lyst G A 13: 13,835,541 (GRCm39) C1741Y probably benign Het
Maged2 G T X: 149,592,755 (GRCm39) D343E probably benign Het
Magi2 T C 5: 19,883,707 (GRCm39) S120P probably damaging Het
Nxph3 A T 11: 95,401,656 (GRCm39) *253R probably null Het
Oog2 A T 4: 143,921,618 (GRCm39) H194L probably damaging Het
Pcbd2 T G 13: 55,880,764 (GRCm39) W7G probably benign Het
Pcdhb14 T G 18: 37,582,823 (GRCm39) L643R possibly damaging Het
Plch1 G T 3: 63,605,177 (GRCm39) probably null Het
Poln G T 5: 34,270,666 (GRCm39) S455* probably null Het
Ppp2r1a T C 17: 21,171,596 (GRCm39) probably benign Het
Rsu1 T G 2: 13,082,308 (GRCm39) probably benign Het
Serpina10 A T 12: 103,583,202 (GRCm39) M360K possibly damaging Het
Thbs1 T C 2: 117,945,451 (GRCm39) V310A probably benign Het
Tie1 C A 4: 118,343,760 (GRCm39) E61* probably null Het
Tm2d1 G T 4: 98,268,911 (GRCm39) P62Q probably damaging Het
Tpp1 G T 7: 105,398,826 (GRCm39) P201Q probably damaging Het
Trim13 A G 14: 61,842,598 (GRCm39) E205G 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
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 2015-04-16