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