Incidental Mutation 'R5274:Sox17'
ID 403793
Institutional Source Beutler Lab
Gene Symbol Sox17
Ensembl Gene ENSMUSG00000025902
Gene Name SRY (sex determining region Y)-box 17
Synonyms
MMRRC Submission 042837-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5274 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 4561154-4567577 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 4562111 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 298 (V298A)
Ref Sequence ENSEMBL: ENSMUSP00000142116 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027035] [ENSMUST00000116652] [ENSMUST00000191647] [ENSMUST00000191939] [ENSMUST00000192650] [ENSMUST00000195555] [ENSMUST00000192913]
AlphaFold Q61473
Predicted Effect probably benign
Transcript: ENSMUST00000027035
AA Change: V363A

PolyPhen 2 Score 0.313 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000027035
Gene: ENSMUSG00000025902
AA Change: V363A

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 probably benign
Transcript: ENSMUST00000116652
AA Change: V363A

PolyPhen 2 Score 0.313 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000112351
Gene: ENSMUSG00000025902
AA Change: V363A

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: V298A

PolyPhen 2 Score 0.735 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000142116
Gene: ENSMUSG00000025902
AA Change: V298A

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 possibly damaging
Transcript: ENSMUST00000195555
AA Change: V235A

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000141894
Gene: ENSMUSG00000025902
AA Change: V235A

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
Predicted Effect probably benign
Transcript: ENSMUST00000192913
SMART Domains Protein: ENSMUSP00000141674
Gene: ENSMUSG00000025902

DomainStartEndE-ValueType
HMG 67 137 6.3e-31 SMART
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.9%
  • 10x: 98.0%
  • 20x: 96.9%
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik C T 4: 103,092,856 (GRCm39) R155H probably benign Het
Ace T C 11: 105,858,863 (GRCm39) M19T probably benign Het
Agl A G 3: 116,566,135 (GRCm39) L995P probably damaging Het
AY761185 T C 8: 21,433,889 (GRCm39) N90S unknown Het
Brca2 T C 5: 150,463,154 (GRCm39) S973P probably benign Het
Cacna1e T C 1: 154,576,250 (GRCm39) T66A probably damaging Het
Cbarp T C 10: 79,967,649 (GRCm39) S531G possibly damaging Het
Cby2 A G 14: 75,820,666 (GRCm39) V362A probably benign Het
Cd96 G T 16: 45,890,066 (GRCm39) T319K possibly damaging Het
Ceacam23 T C 7: 17,649,642 (GRCm39) probably null Het
Chil5 A C 3: 105,936,169 (GRCm39) F41C probably damaging Het
Col24a1 A C 3: 145,190,433 (GRCm39) E1239D probably benign Het
Dip2b A G 15: 100,109,985 (GRCm39) E1490G possibly damaging Het
Dync1li1 T C 9: 114,544,273 (GRCm39) V315A possibly damaging Het
Dync2h1 T C 9: 7,116,540 (GRCm39) S99G probably benign Het
Dynlt5 A T 4: 102,859,768 (GRCm39) T103S possibly damaging Het
E2f8 C T 7: 48,516,925 (GRCm39) R818H probably damaging Het
Eomes T C 9: 118,309,597 (GRCm39) V250A probably damaging Het
Esyt3 T C 9: 99,200,350 (GRCm39) T615A probably benign Het
Fbxo38 A T 18: 62,648,140 (GRCm39) D799E probably damaging Het
Fdft1 A G 14: 63,389,792 (GRCm39) F288S probably damaging Het
Gm14325 G A 2: 177,474,777 (GRCm39) H102Y possibly damaging Het
Gm4871 C G 5: 144,967,180 (GRCm39) E185Q probably damaging Het
Gm5901 C A 7: 105,026,655 (GRCm39) P141Q probably damaging Het
Herc1 T A 9: 66,306,691 (GRCm39) I933N probably benign Het
Ifih1 T C 2: 62,442,062 (GRCm39) Q385R probably benign Het
Ighmbp2 T C 19: 3,315,518 (GRCm39) E634G probably damaging Het
Klk6 C G 7: 43,478,553 (GRCm39) probably null Het
Kmt2d A G 15: 98,752,111 (GRCm39) probably benign Het
Lig3 T A 11: 82,688,118 (GRCm39) probably null Het
Lrp1b T C 2: 41,234,456 (GRCm39) D310G probably null Het
Mroh6 A G 15: 75,756,849 (GRCm39) V571A possibly damaging Het
Olfm5 A G 7: 103,809,190 (GRCm39) S132P probably damaging Het
Or52n20 T C 7: 104,320,733 (GRCm39) S275P probably damaging Het
Or5p64 A T 7: 107,854,842 (GRCm39) F168I probably benign Het
Pacc1 T C 1: 191,080,665 (GRCm39) V295A probably damaging Het
Patj G C 4: 98,407,218 (GRCm39) S4T probably damaging Het
Pcdhga12 T A 18: 37,899,475 (GRCm39) C102* probably null Het
Pik3ap1 T C 19: 41,270,391 (GRCm39) D766G possibly damaging Het
Plch2 A T 4: 155,083,411 (GRCm39) L408Q probably damaging Het
Pnma2 G T 14: 67,154,209 (GRCm39) R211L probably damaging Het
Prkg2 T A 5: 99,117,850 (GRCm39) H468L probably damaging Het
Rad1 T A 15: 10,488,059 (GRCm39) probably null Het
Rims3 A G 4: 120,748,571 (GRCm39) D264G probably damaging Het
Rnf123 AT ATT 9: 107,941,202 (GRCm39) probably null Het
Rrm2 T A 12: 24,760,406 (GRCm39) Y75* probably null Het
Sall3 T C 18: 81,013,052 (GRCm39) N1128S probably benign Het
Slc26a5 T C 5: 22,018,899 (GRCm39) T610A possibly damaging Het
Snx29 G T 16: 11,556,268 (GRCm39) E766D probably damaging Het
Ss18 G A 18: 14,774,106 (GRCm39) Q228* probably null Het
Tas2r121 A G 6: 132,677,811 (GRCm39) S54P probably damaging Het
Ttc21b T C 2: 66,066,627 (GRCm39) E342G possibly damaging Het
Ubap2l A G 3: 89,920,037 (GRCm39) Y818H probably damaging Het
Usp15 C A 10: 123,004,256 (GRCm39) R166I probably damaging Het
Vmn1r34 T G 6: 66,614,123 (GRCm39) H205P probably damaging Het
Vmn2r22 A T 6: 123,627,593 (GRCm39) M1K probably null Het
Vps51 T G 19: 6,121,063 (GRCm39) E283D probably benign Het
Zdhhc1 T C 8: 106,210,402 (GRCm39) N5S probably benign Het
Zfp758 T A 17: 22,594,836 (GRCm39) C441S probably benign Het
Zp2 T C 7: 119,737,315 (GRCm39) E291G possibly damaging Het
Other mutations in Sox17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01025:Sox17 APN 1 4,562,426 (GRCm39) missense possibly damaging 0.66
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
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
Predicted Primers PCR Primer
(F):5'- TCAAATGTCGGGGTAGTTGC -3'
(R):5'- CTATGCAGTGTCCGTAGAGC -3'

Sequencing Primer
(F):5'- TTGCAATAGTAGACCGCTGAGC -3'
(R):5'- GCTCTGCACCTGTACTACGG -3'
Posted On 2016-07-22