Incidental Mutation 'R1160:Sox17'
ID100271
Institutional Source Beutler Lab
Gene Symbol Sox17
Ensembl Gene ENSMUSG00000025902
Gene NameSRY (sex determining region Y)-box 17
Synonyms
MMRRC Submission 039233-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R1160 (G1)
Quality Score225
Status Not validated
Chromosome1
Chromosomal Location4490931-4497354 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 4491852 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 310 (V310E)
Ref Sequence ENSEMBL: ENSMUSP00000142116 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027035] [ENSMUST00000116652] [ENSMUST00000191647] [ENSMUST00000191939] [ENSMUST00000192650] [ENSMUST00000192913] [ENSMUST00000195555]
Predicted Effect probably damaging
Transcript: ENSMUST00000027035
AA Change: V375E

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000027035
Gene: ENSMUSG00000025902
AA Change: V375E

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 damaging
Transcript: ENSMUST00000116652
AA Change: V375E

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000112351
Gene: ENSMUSG00000025902
AA Change: V375E

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 probably damaging
Transcript: ENSMUST00000192650
AA Change: V310E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000142116
Gene: ENSMUSG00000025902
AA Change: V310E

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 noncoding transcript
Transcript: ENSMUST00000193450
Predicted Effect probably damaging
Transcript: ENSMUST00000195555
AA Change: V247E

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000141894
Gene: ENSMUSG00000025902
AA Change: V247E

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
Coding Region Coverage
  • 1x: 98.6%
  • 3x: 97.3%
  • 10x: 92.7%
  • 20x: 81.6%
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810403A07Rik C A 3: 88,708,862 P452Q probably damaging Het
Agap1 G T 1: 89,843,154 K622N probably damaging Het
Ap3b2 A T 7: 81,466,169 probably null Het
Arl5b T C 2: 15,069,837 V43A probably benign Het
Astn1 T C 1: 158,600,365 V702A possibly damaging Het
Bach1 T C 16: 87,715,434 V15A probably benign Het
Cacna1c C T 6: 118,612,625 R1446H probably damaging Het
Ccar2 C T 14: 70,139,769 V774M probably benign Het
Dcaf5 T C 12: 80,340,215 D379G possibly damaging Het
Dcpp1 T A 17: 23,881,431 I45K possibly damaging Het
Ddx17 T A 15: 79,541,087 S128C probably damaging Het
Eml3 A G 19: 8,933,250 N192S probably benign Het
Epha3 T G 16: 63,773,068 D219A probably damaging Het
Fhod3 C T 18: 24,985,236 A210V probably damaging Het
Klhl5 A G 5: 65,141,340 N154S probably benign Het
Lrif1 A G 3: 106,732,717 N373D possibly damaging Het
Map3k20 A G 2: 72,441,520 N664S probably benign Het
Olfr625-ps1 A G 7: 103,682,861 N38D possibly damaging Het
Parp14 G A 16: 35,856,760 A946V probably benign Het
Pdia3 G A 2: 121,432,377 G275S probably damaging Het
Pglyrp4 T A 3: 90,728,831 probably null Het
Pole A G 5: 110,295,253 E349G possibly damaging Het
Ptprj A G 2: 90,444,524 Y1165H probably damaging Het
Rasd1 T A 11: 59,964,721 I29F possibly damaging Het
Scamp3 T C 3: 89,181,198 F237S probably damaging Het
Sccpdh T G 1: 179,684,210 D82E probably benign Het
Slc19a3 A C 1: 83,022,692 H201Q possibly damaging Het
Slc5a4a G A 10: 76,178,161 A401T possibly damaging Het
Snupn T G 9: 56,957,105 C29W probably benign Het
Sorbs2 A G 8: 45,770,576 Y222C probably damaging Het
Srgap1 T A 10: 121,855,477 Y284F probably benign Het
Srpk1 C A 17: 28,599,774 V363F probably benign Het
Syt13 T A 2: 92,943,042 probably null Het
Taf2 A G 15: 55,071,397 V45A probably benign Het
Tal1 A T 4: 115,068,616 D294V probably damaging Het
Tbl2 A G 5: 135,159,392 T347A probably benign Het
Tet3 A G 6: 83,404,452 S110P probably benign Het
Tmem132a A G 19: 10,858,574 V864A probably damaging Het
Trak1 T C 9: 121,392,007 I80T probably benign Het
Trappc6b G A 12: 59,050,278 T86I probably damaging Het
Usf3 T A 16: 44,218,547 I1130N probably damaging Het
Xirp2 T C 2: 67,509,887 V824A possibly damaging Het
Zfp810 T C 9: 22,278,532 Y360C possibly damaging Het
Zmiz1 T A 14: 25,654,512 V685E probably damaging Het
Zp2 A T 7: 120,136,045 D368E probably damaging Het
Other mutations in Sox17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01025:Sox17 APN 1 4492203 missense possibly damaging 0.66
rheas UTSW 1 4492432 missense possibly damaging 0.71
R1503:Sox17 UTSW 1 4491928 missense probably damaging 1.00
R2911:Sox17 UTSW 1 4493131 missense probably damaging 1.00
R3004:Sox17 UTSW 1 4492617 missense probably damaging 1.00
R3508:Sox17 UTSW 1 4492155 missense probably damaging 0.98
R4596:Sox17 UTSW 1 4492637 missense possibly damaging 0.91
R5274:Sox17 UTSW 1 4491888 missense possibly damaging 0.74
R6544:Sox17 UTSW 1 4492432 missense possibly damaging 0.71
R7496:Sox17 UTSW 1 4492327 missense probably damaging 0.96
R7704:Sox17 UTSW 1 4493672 intron probably benign
Z1088:Sox17 UTSW 1 4492302 missense probably damaging 1.00
Predicted Primers
Posted On2014-01-15