Mutagenetix > Incidental Mutations

Incidental Mutation 'R1160:Sox17'

100271

Institutional Source

Beutler Lab

Gene Symbol

Sox17

Ensembl Gene

ENSMUSG00000025902

Gene Name

SRY (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 Score

225

Status

Not validated

Chromosome

Chromosomal Location

4490931-4497354 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 4491852 bp

Zygosity

Heterozygous

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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
Pfam:HMG_box	36	71	3.7e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000191939

SMART Domains

Protein: ENSMUSP00000142154
Gene: ENSMUSG00000025902

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
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

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R8446:Sox17	UTSW	1	4492093	missense	possibly damaging	0.95
Z1088:Sox17	UTSW	1	4492302	missense	probably damaging	1.00
Z1177:Sox17	UTSW	1	4492473	missense	probably damaging	1.00

Predicted Primers

Posted On

2014-01-15