Mutagenetix > Incidental Mutation

Incidental Mutation 'R9155:Sox17'

695275

Institutional Source

Beutler Lab

Gene Symbol

Sox17

Ensembl Gene

ENSMUSG00000025902

Gene Name

SRY (sex determining region Y)-box 17

Synonyms

MMRRC Submission

068941-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9155 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

4561154-4567577 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4562447 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 251 (Y251C)

Ref Sequence

ENSEMBL: ENSMUSP00000027035 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027035] [ENSMUST00000116652] [ENSMUST00000191647] [ENSMUST00000191939] [ENSMUST00000192650] [ENSMUST00000192913] [ENSMUST00000195555]

AlphaFold

Q61473

PDB Structure

Structure of Sox17 Bound to DNA [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000027035
AA Change: Y251C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000027035
Gene: ENSMUSG00000025902
AA Change: Y251C

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: Y251C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000112351
Gene: ENSMUSG00000025902
AA Change: Y251C

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

SMART Domains

Protein: ENSMUSP00000142116
Gene: ENSMUSG00000025902
AA Change: Y186C

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

probably damaging
Transcript: ENSMUST00000195555
AA Change: Y123C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000141894
Gene: ENSMUSG00000025902
AA Change: Y123C

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028K03Rik	A	G	5: 107,691,811 (GRCm39)	E34G	probably damaging	Het
Aldh1a3	A	T	7: 66,058,867 (GRCm39)	L157*	probably null	Het
Asic2	T	A	11: 80,784,872 (GRCm39)	T356S	probably benign	Het
Ate1	T	C	7: 129,996,463 (GRCm39)	D459G	probably damaging	Het
Cacna1g	T	A	11: 94,350,423 (GRCm39)	Q474L		Het
Calhm6	T	C	10: 34,002,363 (GRCm39)	E240G	probably damaging	Het
Carf	C	A	1: 60,189,842 (GRCm39)	T689K	possibly damaging	Het
Carmil2	A	G	8: 106,412,922 (GRCm39)	D6G	probably benign	Het
Ccnd2	A	C	6: 127,127,663 (GRCm39)	V25G	probably damaging	Het
Ccnk	T	A	12: 108,159,978 (GRCm39)	F153L	probably damaging	Het
Cdh23	C	T	10: 60,249,485 (GRCm39)	G808E	probably damaging	Het
Clec11a	C	T	7: 43,954,317 (GRCm39)	R212Q	probably damaging	Het
Cog4	T	C	8: 111,608,384 (GRCm39)	W749R	probably damaging	Het
Col6a3	T	A	1: 90,738,301 (GRCm39)	T1073S	probably benign	Het
Col6a4	T	A	9: 105,952,209 (GRCm39)	D563V	probably benign	Het
Coq5	A	G	5: 115,433,839 (GRCm39)		probably null	Het
Crebbp	A	C	16: 3,914,346 (GRCm39)	H1292Q	probably damaging	Het
Csmd3	C	A	15: 47,449,051 (GRCm39)	G2737W		Het
Ddrgk1	T	C	2: 130,500,227 (GRCm39)	Y223C	probably damaging	Het
Dennd1c	T	C	17: 57,373,796 (GRCm39)	Q589R	probably benign	Het
Dnah10	A	G	5: 124,907,475 (GRCm39)	D4336G	probably damaging	Het
Dnah11	C	T	12: 117,991,251 (GRCm39)	E2372K	probably damaging	Het
E330034G19Rik	A	T	14: 24,346,938 (GRCm39)	Q140L	possibly damaging	Het
Ergic3	A	G	2: 155,850,780 (GRCm39)	Y83C	probably damaging	Het
Fam171a2	A	T	11: 102,329,497 (GRCm39)	S421T	probably benign	Het
Fndc3a	T	A	14: 72,921,162 (GRCm39)	H4L	possibly damaging	Het
Gid8	T	A	2: 180,359,756 (GRCm39)	Y213*	probably null	Het
Hephl1	G	T	9: 15,000,375 (GRCm39)	H292Q	probably damaging	Het
Hexb	T	C	13: 97,314,414 (GRCm39)	Y443C	probably damaging	Het
Htr1f	C	T	16: 64,746,788 (GRCm39)	R168H	probably benign	Het
Hus1	A	G	11: 8,956,056 (GRCm39)	I159T	probably damaging	Het
Inha	A	G	1: 75,486,133 (GRCm39)	T143A	probably benign	Het
Itga8	A	G	2: 12,194,330 (GRCm39)	I690T	probably benign	Het
Itgae	G	T	11: 73,016,089 (GRCm39)	C766F	possibly damaging	Het
Kank4	T	C	4: 98,666,563 (GRCm39)	E628G	probably benign	Het
Kctd19	T	C	8: 106,120,571 (GRCm39)	H221R	probably benign	Het
Llgl1	A	G	11: 60,597,934 (GRCm39)	E351G	probably benign	Het
Lrba	A	G	3: 86,202,508 (GRCm39)	Y253C	probably damaging	Het
Lrp2	T	A	2: 69,291,713 (GRCm39)	R3489*	probably null	Het
Lrriq1	T	C	10: 103,050,640 (GRCm39)	N704S	probably benign	Het
Mbtps1	T	C	8: 120,235,693 (GRCm39)	N995S	probably benign	Het
Mga	T	C	2: 119,757,013 (GRCm39)	C1077R	probably damaging	Het
Muc21	G	A	17: 35,932,131 (GRCm39)	P685L	unknown	Het
Ndufv1	A	T	19: 4,059,912 (GRCm39)	C142S	probably damaging	Het
Nkx3-1	T	C	14: 69,429,660 (GRCm39)	L226P	probably damaging	Het
Nsd1	C	T	13: 55,361,253 (GRCm39)	R74W	probably damaging	Het
Or12k8	A	C	2: 36,975,016 (GRCm39)	M248R	probably benign	Het
Or1d2	A	G	11: 74,255,791 (GRCm39)	T99A	probably benign	Het
Or2n1d	A	T	17: 38,646,224 (GRCm39)	M59L	probably damaging	Het
Or5b99	G	A	19: 12,976,428 (GRCm39)	C26Y	probably benign	Het
Or7g35	A	T	9: 19,496,379 (GRCm39)	D182V	probably benign	Het
Phc3	A	G	3: 30,968,691 (GRCm39)	V812A	probably benign	Het
Pigt	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	2: 164,341,589 (GRCm39)		probably null	Het
Ppp4c	A	T	7: 126,386,419 (GRCm39)	C193S	possibly damaging	Het
Rbbp5	C	A	1: 132,422,023 (GRCm39)	P308T	probably damaging	Het
Rhot1	A	G	11: 80,148,380 (GRCm39)	T607A	probably null	Het
Secisbp2l	G	A	2: 125,617,623 (GRCm39)	P18L	probably damaging	Het
Slc27a4	G	A	2: 29,701,294 (GRCm39)	G362S	probably damaging	Het
Slc4a8	T	C	15: 100,672,571 (GRCm39)	Y36H	probably damaging	Het
Spata31h1	A	T	10: 82,120,203 (GRCm39)	I4269N	probably damaging	Het
Taf4b	T	C	18: 14,946,296 (GRCm39)	V373A	probably benign	Het
Tecpr2	T	A	12: 110,881,184 (GRCm39)	V107E	probably damaging	Het
Them7	A	G	2: 105,209,124 (GRCm39)	Y148C	probably damaging	Het
Tktl2	T	A	8: 66,965,858 (GRCm39)	M472K	possibly damaging	Het
Ttn	C	T	2: 76,625,937 (GRCm39)	V15041I	probably damaging	Het
Ubr1	A	G	2: 120,754,615 (GRCm39)	V751A	possibly damaging	Het
Vmn1r213	A	T	13: 23,196,343 (GRCm39)	R309*	probably null	Het
Vmn2r10	A	T	5: 109,144,212 (GRCm39)	D579E	probably benign	Het
Vmn2r118	T	C	17: 55,917,207 (GRCm39)	Q435R	probably null	Het
Vmn2r50	A	T	7: 9,781,571 (GRCm39)	H391Q	probably damaging	Het
Zbtb44	A	T	9: 30,965,309 (GRCm39)	I240F	probably benign	Het

Other mutations in Sox17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- TGGTTGGATTCCGTGCCATC -3'
(R):5'- TTGACCTTGGCAGAGAAGC -3'

Sequencing Primer
(F):5'- GTTGCGCGTGGAAACCG -3'
(R):5'- CTTCGTGGAAGAGGCCGAG -3'

Posted On

2022-01-20