Incidental Mutation 'R2911:Sox17'
ID 261221
Institutional Source Beutler Lab
Gene Symbol Sox17
Ensembl Gene ENSMUSG00000025902
Gene Name SRY (sex determining region Y)-box 17
Synonyms
MMRRC Submission 040498-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2911 (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 T at 4563354 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 92 (D92E)
Ref Sequence ENSEMBL: ENSMUSP00000141674 (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: D92E

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000027035
Gene: ENSMUSG00000025902
AA Change: D92E

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: D92E

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000112351
Gene: ENSMUSG00000025902
AA Change: D92E

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 damaging
Transcript: ENSMUST00000191939
AA Change: D92E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000142154
Gene: ENSMUSG00000025902
AA Change: D92E

DomainStartEndE-ValueType
HMG 67 137 6.3e-31 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192505
Predicted Effect probably benign
Transcript: ENSMUST00000192650
SMART Domains Protein: ENSMUSP00000142116
Gene: ENSMUSG00000025902

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 damaging
Transcript: ENSMUST00000192913
AA Change: D92E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000141674
Gene: ENSMUSG00000025902
AA Change: D92E

DomainStartEndE-ValueType
HMG 67 137 6.3e-31 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193450
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194935
Predicted Effect probably benign
Transcript: ENSMUST00000195555
SMART Domains Protein: ENSMUSP00000141894
Gene: ENSMUSG00000025902

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf3 A G 16: 20,378,982 (GRCm39) T645A probably damaging Het
Adam10 C T 9: 70,626,005 (GRCm39) S91L probably damaging Het
Ahnak A G 19: 8,989,018 (GRCm39) D3434G probably damaging Het
Ankrd11 A T 8: 123,635,537 (GRCm39) D32E probably damaging Het
Cacna1b A T 2: 24,497,553 (GRCm39) probably null Het
Cd109 CATTTATTTATTTATTTATTTATTTATTTATTTAT CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT 9: 78,619,782 (GRCm39) probably benign Het
Cep104 T A 4: 154,079,884 (GRCm39) probably null Het
Clstn2 A G 9: 97,414,775 (GRCm39) V373A probably damaging Het
Cyp2c65 T G 19: 39,076,126 (GRCm39) I359M probably damaging Het
Cyp4a12b A T 4: 115,290,723 (GRCm39) K282* probably null Het
Ddx1 C T 12: 13,281,441 (GRCm39) probably null Het
Dnah7a A T 1: 53,466,983 (GRCm39) probably null Het
Dzip1l T C 9: 99,537,655 (GRCm39) V419A probably benign Het
Epha3 A C 16: 63,472,775 (GRCm39) V370G probably benign Het
Fbxo38 T C 18: 62,652,878 (GRCm39) D523G probably benign Het
Fryl T C 5: 73,207,799 (GRCm39) D2457G probably damaging Het
Gm379 A C X: 107,708,371 (GRCm39) F43V possibly damaging Het
Grhl3 T C 4: 135,286,457 (GRCm39) I75V probably benign Het
Lcp2 G A 11: 34,018,970 (GRCm39) probably null Het
Lipo3 T A 19: 33,556,767 (GRCm39) I220F probably benign Het
Lrp1b T C 2: 41,396,704 (GRCm39) E340G probably benign Het
Lypd8l G A 11: 58,499,252 (GRCm39) Q189* probably null Het
Mbtps1 A G 8: 120,272,776 (GRCm39) I123T possibly damaging Het
Ndc80 A T 17: 71,807,371 (GRCm39) S528R probably benign Het
Odf2l A C 3: 144,830,084 (GRCm39) I19L probably benign Het
Or10d3 T C 9: 39,462,117 (GRCm39) I17V possibly damaging Het
Or5h25 C T 16: 58,930,544 (GRCm39) R143H probably benign Het
Or7e177 A G 9: 20,211,775 (GRCm39) K94R possibly damaging Het
Pigr A G 1: 130,777,270 (GRCm39) D692G probably damaging Het
Reep2 T C 18: 34,978,743 (GRCm39) probably null Het
Rin3 T G 12: 102,339,843 (GRCm39) S598A probably benign Het
Rreb1 A T 13: 38,132,896 (GRCm39) E1690D probably benign Het
Rubcnl C T 14: 75,278,248 (GRCm39) T344I probably benign Het
Shcbp1l C A 1: 153,304,372 (GRCm39) L144I probably damaging Het
Snx2 C T 18: 53,332,946 (GRCm39) P207S probably damaging Het
Spata21 A G 4: 140,830,393 (GRCm39) M288V possibly damaging Het
Sra1 T C 18: 36,809,238 (GRCm39) D273G possibly damaging Het
Syt7 T C 19: 10,420,799 (GRCm39) I448T probably benign Het
Tac1 A G 6: 7,559,097 (GRCm39) probably null Het
Tgs1 C A 4: 3,585,616 (GRCm39) N164K probably benign Het
Tmem72 T A 6: 116,675,292 (GRCm39) I67F possibly damaging Het
Ythdc1 T C 5: 86,964,418 (GRCm39) S88P 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
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
Predicted Primers PCR Primer
(F):5'- CATTCGCTCCTATGGCCCAAAG -3'
(R):5'- ATCTCCAGGCTAGCTTCCGATC -3'

Sequencing Primer
(F):5'- TATGGCCCAAAGACCAAAGTGTTAC -3'
(R):5'- GATACGCCAGTGACGACCAG -3'
Posted On 2015-01-23