Incidental Mutation 'IGL01025:Sox17'
ID 59793
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sox17
Ensembl Gene ENSMUSG00000025902
Gene Name SRY (sex determining region Y)-box 17
Synonyms
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01025
Quality Score
Status
Chromosome 1
Chromosomal Location 4561154-4567577 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 4562426 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 130 (D130G)
Ref Sequence ENSEMBL: ENSMUSP00000141894 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027035] [ENSMUST00000116652] [ENSMUST00000191647] [ENSMUST00000191939] [ENSMUST00000192650] [ENSMUST00000192913] [ENSMUST00000195555]
AlphaFold Q61473
Predicted Effect possibly damaging
Transcript: ENSMUST00000027035
AA Change: D258G

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000027035
Gene: ENSMUSG00000025902
AA Change: D258G

DomainStartEndE-ValueType
HMG 67 137 1.57e-28 SMART
low complexity region 182 193 N/A INTRINSIC
Pfam:Sox_C_TAD 197 417 9.5e-56 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000116652
AA Change: D258G

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000112351
Gene: ENSMUSG00000025902
AA Change: D258G

DomainStartEndE-ValueType
HMG 67 137 1.57e-28 SMART
low complexity region 182 193 N/A INTRINSIC
Pfam:Sox_C_TAD 197 330 9.8e-19 PFAM
Pfam:Sox_C_TAD 312 418 1.6e-29 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000191647
SMART Domains Protein: ENSMUSP00000142204
Gene: ENSMUSG00000025902

DomainStartEndE-ValueType
Pfam:HMG_box 36 71 3.7e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000191939
SMART Domains Protein: ENSMUSP00000142154
Gene: ENSMUSG00000025902

DomainStartEndE-ValueType
HMG 67 137 6.3e-31 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192505
Predicted Effect possibly damaging
Transcript: ENSMUST00000192650
AA Change: D193G

PolyPhen 2 Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000142116
Gene: ENSMUSG00000025902
AA Change: D193G

DomainStartEndE-ValueType
Pfam:HMG_box 36 71 2.5e-7 PFAM
low complexity region 117 128 N/A INTRINSIC
Pfam:Sox_C_TAD 132 266 6.1e-16 PFAM
Pfam:Sox_C_TAD 255 353 4.4e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000192913
SMART Domains Protein: ENSMUSP00000141674
Gene: ENSMUSG00000025902

DomainStartEndE-ValueType
HMG 67 137 6.3e-31 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000195555
AA Change: D130G

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000141894
Gene: ENSMUSG00000025902
AA Change: D130G

DomainStartEndE-ValueType
SCOP:d2lefa_ 1 21 6e-4 SMART
low complexity region 54 65 N/A INTRINSIC
Pfam:Sox_C_TAD 69 202 4.6e-16 PFAM
Pfam:Sox_C_TAD 192 290 3.1e-27 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193450
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the Sox (Sry-related high mobility group box) family of transcription factors involved in the regulation of embryonic development. The encoded protein plays a role in the determination of cell fate and in maintaining cell identity. This gene regulates tumor angiogenesis and tumor progression. Mutations in the human gene are associated with vesicoureteral reflux, characterized by the backward flow of urine from the bladder into the ureters or the kidney. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
PHENOTYPE: Embryos homozygous for a targeted null mutation develop a deficient gut endoderm and die around embryonic day 10.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap3 G A 4: 155,986,676 (GRCm39) V335M probably damaging Het
Apex1 C T 14: 51,163,711 (GRCm39) L113F possibly damaging Het
Bltp1 T A 3: 37,100,429 (GRCm39) H1218Q possibly damaging Het
Cd33 C T 7: 43,182,329 (GRCm39) V39M probably damaging Het
Chek2 A G 5: 110,996,536 (GRCm39) D166G probably damaging Het
Col2a1 T C 15: 97,874,054 (GRCm39) K1376R unknown Het
Cpd C T 11: 76,686,439 (GRCm39) R963H probably damaging Het
Cracd A G 5: 76,805,921 (GRCm39) probably benign Het
Cyp2c67 A C 19: 39,628,376 (GRCm39) Y189* probably null Het
Dock6 T C 9: 21,723,103 (GRCm39) E1606G possibly damaging Het
Dusp4 A T 8: 35,285,666 (GRCm39) E309V probably benign Het
Dync2h1 A G 9: 7,162,789 (GRCm39) I600T probably damaging Het
Fer1l4 A G 2: 155,894,105 (GRCm39) V66A probably benign Het
Fktn T C 4: 53,737,568 (GRCm39) L269P possibly damaging Het
Ftsj3 A G 11: 106,141,185 (GRCm39) I645T probably damaging Het
Fxr2 A G 11: 69,534,713 (GRCm39) H198R probably damaging Het
Fzd7 T C 1: 59,523,539 (GRCm39) V474A probably damaging Het
Gm10295 T A 7: 71,000,406 (GRCm39) D58V unknown Het
Hdlbp T C 1: 93,357,891 (GRCm39) I337V probably benign Het
Hydin T C 8: 111,053,033 (GRCm39) V235A probably benign Het
Igfbp4 C T 11: 98,939,069 (GRCm39) H30Y probably damaging Het
Kcna4 T C 2: 107,126,736 (GRCm39) V490A probably damaging Het
Kcnj13 T G 1: 87,314,700 (GRCm39) D174A probably benign Het
Krt7 T A 15: 101,321,302 (GRCm39) L373Q probably benign Het
Lama3 G A 18: 12,614,094 (GRCm39) V1288I probably benign Het
Mroh9 T C 1: 162,875,435 (GRCm39) D488G possibly damaging Het
Myh7 T C 14: 55,216,994 (GRCm39) E1121G probably damaging Het
Myom1 A G 17: 71,384,912 (GRCm39) N768D probably damaging Het
Naa16 T C 14: 79,622,196 (GRCm39) T48A probably damaging Het
Naglu C T 11: 100,964,773 (GRCm39) P287S probably benign Het
Nipbl A G 15: 8,379,939 (GRCm39) V951A possibly damaging Het
Nlrp3 T A 11: 59,442,713 (GRCm39) M755K probably benign Het
Nlrp4e T C 7: 23,052,586 (GRCm39) probably benign Het
Nt5dc1 C T 10: 34,283,553 (GRCm39) A79T possibly damaging Het
Or10aa3 T C 1: 173,878,251 (GRCm39) F104S probably damaging Het
Or6c205 A T 10: 129,086,609 (GRCm39) I69F possibly damaging Het
Or8b47 A G 9: 38,435,029 (GRCm39) probably benign Het
Otof A G 5: 30,541,597 (GRCm39) L774P possibly damaging Het
Phf20l1 C T 15: 66,484,981 (GRCm39) R322C probably damaging Het
Pkhd1 C T 1: 20,279,400 (GRCm39) G2973R probably benign Het
Plekhg5 G T 4: 152,192,983 (GRCm39) D613Y probably damaging Het
Ppm1h T A 10: 122,714,534 (GRCm39) probably null Het
Pramel31 T A 4: 144,089,947 (GRCm39) L329Q probably damaging Het
Prpf39 T C 12: 65,089,255 (GRCm39) probably benign Het
Rtn3 A G 19: 7,460,406 (GRCm39) S15P unknown Het
Slc22a28 G T 19: 8,094,272 (GRCm39) probably benign Het
Slc4a5 T A 6: 83,239,515 (GRCm39) L143Q probably damaging Het
Stag1 A G 9: 100,833,710 (GRCm39) T1108A possibly damaging Het
Sugp2 G A 8: 70,695,185 (GRCm39) D53N probably damaging Het
Trim33 G A 3: 103,261,234 (GRCm39) probably benign Het
Ttn A G 2: 76,629,568 (GRCm39) I14291T probably damaging Het
Ttn A G 2: 76,619,869 (GRCm39) V15933A probably damaging Het
Tulp3 A C 6: 128,302,847 (GRCm39) I324S probably damaging Het
Zfhx2 T C 14: 55,301,717 (GRCm39) E2089G probably damaging Het
Zhx1 T C 15: 57,918,075 (GRCm39) D57G probably benign Het
Other mutations in Sox17
AlleleSourceChrCoordTypePredicted EffectPPH Score
rheas UTSW 1 4,562,655 (GRCm39) missense possibly damaging 0.71
R1160:Sox17 UTSW 1 4,562,075 (GRCm39) missense probably damaging 1.00
R1503:Sox17 UTSW 1 4,562,151 (GRCm39) missense probably damaging 1.00
R2911:Sox17 UTSW 1 4,563,354 (GRCm39) missense probably damaging 1.00
R3004:Sox17 UTSW 1 4,562,840 (GRCm39) missense probably damaging 1.00
R3508:Sox17 UTSW 1 4,562,378 (GRCm39) missense probably damaging 0.98
R4596:Sox17 UTSW 1 4,562,860 (GRCm39) missense possibly damaging 0.91
R5274:Sox17 UTSW 1 4,562,111 (GRCm39) missense possibly damaging 0.74
R6544:Sox17 UTSW 1 4,562,655 (GRCm39) missense possibly damaging 0.71
R7496:Sox17 UTSW 1 4,562,550 (GRCm39) missense probably damaging 0.96
R7704:Sox17 UTSW 1 4,563,895 (GRCm39) intron probably benign
R8446:Sox17 UTSW 1 4,562,316 (GRCm39) missense possibly damaging 0.95
R8851:Sox17 UTSW 1 4,562,073 (GRCm39) missense probably benign 0.04
R9155:Sox17 UTSW 1 4,562,447 (GRCm39) missense probably damaging 1.00
Z1088:Sox17 UTSW 1 4,562,525 (GRCm39) missense probably damaging 1.00
Z1177:Sox17 UTSW 1 4,562,696 (GRCm39) missense probably damaging 1.00
Posted On 2013-07-11