Incidental Mutation 'IGL01449:Sox30'
ID 84572
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sox30
Ensembl Gene ENSMUSG00000040489
Gene Name SRY (sex determining region Y)-box 30
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01449
Quality Score
Chromosome 11
Chromosomal Location 45871137-45908821 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 45872169 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 341 (D341E)
Ref Sequence ENSEMBL: ENSMUSP00000037519 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049038]
AlphaFold Q8CGW4
Predicted Effect probably damaging
Transcript: ENSMUST00000049038
AA Change: D341E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000037519
Gene: ENSMUSG00000040489
AA Change: D341E

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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030K09Rik A T 8: 73,198,693 (GRCm39) L33F probably benign Het
Actr8 T C 14: 29,712,927 (GRCm39) probably null Het
Aldh16a1 C A 7: 44,791,391 (GRCm39) A105S probably damaging Het
Angpt2 T C 8: 18,760,641 (GRCm39) T154A probably benign Het
BC051665 A G 13: 60,930,518 (GRCm39) V278A probably damaging Het
Cap1 T C 4: 122,753,980 (GRCm39) T458A probably damaging Het
Clcn3 A T 8: 61,387,632 (GRCm39) S179T probably damaging Het
Cyp2a22 T C 7: 26,632,978 (GRCm39) D408G probably benign Het
Fam217b T A 2: 178,062,943 (GRCm39) S302R probably damaging Het
Fcho2 A T 13: 98,926,315 (GRCm39) D89E probably benign Het
Fnip1 C T 11: 54,390,334 (GRCm39) R434C probably damaging Het
Gga3 G A 11: 115,479,928 (GRCm39) T261M probably damaging Het
Gm21985 T C 2: 112,169,741 (GRCm39) F292L probably damaging Het
Gm43638 A T 5: 87,634,074 (GRCm39) S178T possibly damaging Het
Igkv10-95 G A 6: 68,657,748 (GRCm39) G68E probably damaging Het
Katnip T A 7: 125,469,857 (GRCm39) V1442D probably damaging Het
Lpcat2 G A 8: 93,597,775 (GRCm39) R180Q possibly damaging Het
Muc6 C T 7: 141,218,527 (GRCm39) A1984T possibly damaging Het
Npy4r T A 14: 33,868,322 (GRCm39) Y322F probably damaging Het
Nwd2 T A 5: 63,962,937 (GRCm39) H840Q probably damaging Het
Or7g26 G A 9: 19,230,529 (GRCm39) G233D probably damaging Het
Osbpl2 G T 2: 179,786,987 (GRCm39) probably benign Het
Pclo T A 5: 14,728,530 (GRCm39) probably benign Het
Pold4 T C 19: 4,282,921 (GRCm39) probably benign Het
Ppp1r16a A G 15: 76,578,494 (GRCm39) probably benign Het
Pprc1 C T 19: 46,053,671 (GRCm39) probably benign Het
Prkcg A G 7: 3,368,135 (GRCm39) D343G probably benign Het
Scaf11 A C 15: 96,317,007 (GRCm39) S852R probably benign Het
Slc31a2 C T 4: 62,210,933 (GRCm39) T22I probably damaging Het
Tle4 A G 19: 14,442,704 (GRCm39) S339P probably benign Het
Tsg101 A T 7: 46,558,673 (GRCm39) Y78N probably damaging Het
Ttc1 T A 11: 43,629,630 (GRCm39) S179C probably damaging Het
Txnrd3 T A 6: 89,631,129 (GRCm39) S142T probably benign Het
Ubr4 C A 4: 139,140,047 (GRCm39) A1210E probably damaging Het
Uroc1 C A 6: 90,315,635 (GRCm39) P172Q probably damaging Het
Usp12 T C 5: 146,691,250 (GRCm39) D168G probably benign Het
Vmn1r32 T A 6: 66,529,916 (GRCm39) M287L probably benign Het
Vwa8 C T 14: 79,420,428 (GRCm39) Q1710* probably null Het
Wdfy4 T A 14: 32,825,994 (GRCm39) Q1219L probably damaging Het
Zbtb17 A G 4: 141,190,616 (GRCm39) T145A probably benign Het
Zfp697 T C 3: 98,334,846 (GRCm39) C204R probably damaging Het
Other mutations in Sox30
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00898:Sox30 APN 11 45,882,727 (GRCm39) missense possibly damaging 0.95
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 2013-11-11