Incidental Mutation 'R1160:Sox17'
| ID |
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 |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1160 (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 4562075 bp (GRCm39)
|
| 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]
|
| AlphaFold |
Q61473 |
| 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 |
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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193450
|
| 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 |
|---|
| Agap1 |
G |
T |
1: 89,770,876 (GRCm39) |
K622N |
probably damaging |
Het |
| Ap3b2 |
A |
T |
7: 81,115,917 (GRCm39) |
|
probably null |
Het |
| Arl5b |
T |
C |
2: 15,074,648 (GRCm39) |
V43A |
probably benign |
Het |
| Astn1 |
T |
C |
1: 158,427,935 (GRCm39) |
V702A |
possibly damaging |
Het |
| Bach1 |
T |
C |
16: 87,512,322 (GRCm39) |
V15A |
probably benign |
Het |
| Cacna1c |
C |
T |
6: 118,589,586 (GRCm39) |
R1446H |
probably damaging |
Het |
| Ccar2 |
C |
T |
14: 70,377,218 (GRCm39) |
V774M |
probably benign |
Het |
| Dcaf5 |
T |
C |
12: 80,386,989 (GRCm39) |
D379G |
possibly damaging |
Het |
| Dcpp1 |
T |
A |
17: 24,100,405 (GRCm39) |
I45K |
possibly damaging |
Het |
| Ddx17 |
T |
A |
15: 79,425,288 (GRCm39) |
S128C |
probably damaging |
Het |
| Eml3 |
A |
G |
19: 8,910,614 (GRCm39) |
N192S |
probably benign |
Het |
| Epha3 |
T |
G |
16: 63,593,431 (GRCm39) |
D219A |
probably damaging |
Het |
| Fhod3 |
C |
T |
18: 25,118,293 (GRCm39) |
A210V |
probably damaging |
Het |
| Khdc4 |
C |
A |
3: 88,616,169 (GRCm39) |
P452Q |
probably damaging |
Het |
| Klhl5 |
A |
G |
5: 65,298,683 (GRCm39) |
N154S |
probably benign |
Het |
| Lrif1 |
A |
G |
3: 106,640,033 (GRCm39) |
N373D |
possibly damaging |
Het |
| Map3k20 |
A |
G |
2: 72,271,864 (GRCm39) |
N664S |
probably benign |
Het |
| Or52z15 |
A |
G |
7: 103,332,068 (GRCm39) |
N38D |
possibly damaging |
Het |
| Parp14 |
G |
A |
16: 35,677,130 (GRCm39) |
A946V |
probably benign |
Het |
| Pdia3 |
G |
A |
2: 121,262,858 (GRCm39) |
G275S |
probably damaging |
Het |
| Pglyrp4 |
T |
A |
3: 90,636,138 (GRCm39) |
|
probably null |
Het |
| Pole |
A |
G |
5: 110,443,119 (GRCm39) |
E349G |
possibly damaging |
Het |
| Ptprj |
A |
G |
2: 90,274,868 (GRCm39) |
Y1165H |
probably damaging |
Het |
| Rasd1 |
T |
A |
11: 59,855,547 (GRCm39) |
I29F |
possibly damaging |
Het |
| Scamp3 |
T |
C |
3: 89,088,505 (GRCm39) |
F237S |
probably damaging |
Het |
| Sccpdh |
T |
G |
1: 179,511,775 (GRCm39) |
D82E |
probably benign |
Het |
| Slc19a3 |
A |
C |
1: 83,000,413 (GRCm39) |
H201Q |
possibly damaging |
Het |
| Slc5a4a |
G |
A |
10: 76,013,995 (GRCm39) |
A401T |
possibly damaging |
Het |
| Snupn |
T |
G |
9: 56,864,389 (GRCm39) |
C29W |
probably benign |
Het |
| Sorbs2 |
A |
G |
8: 46,223,613 (GRCm39) |
Y222C |
probably damaging |
Het |
| Srgap1 |
T |
A |
10: 121,691,382 (GRCm39) |
Y284F |
probably benign |
Het |
| Srpk1 |
C |
A |
17: 28,818,748 (GRCm39) |
V363F |
probably benign |
Het |
| Syt13 |
T |
A |
2: 92,773,387 (GRCm39) |
|
probably null |
Het |
| Taf2 |
A |
G |
15: 54,934,793 (GRCm39) |
V45A |
probably benign |
Het |
| Tal1 |
A |
T |
4: 114,925,813 (GRCm39) |
D294V |
probably damaging |
Het |
| Tbl2 |
A |
G |
5: 135,188,246 (GRCm39) |
T347A |
probably benign |
Het |
| Tet3 |
A |
G |
6: 83,381,434 (GRCm39) |
S110P |
probably benign |
Het |
| Tmem132a |
A |
G |
19: 10,835,938 (GRCm39) |
V864A |
probably damaging |
Het |
| Trak1 |
T |
C |
9: 121,221,073 (GRCm39) |
I80T |
probably benign |
Het |
| Trappc6b |
G |
A |
12: 59,097,064 (GRCm39) |
T86I |
probably damaging |
Het |
| Usf3 |
T |
A |
16: 44,038,910 (GRCm39) |
I1130N |
probably damaging |
Het |
| Xirp2 |
T |
C |
2: 67,340,231 (GRCm39) |
V824A |
possibly damaging |
Het |
| Zfp810 |
T |
C |
9: 22,189,828 (GRCm39) |
Y360C |
possibly damaging |
Het |
| Zmiz1 |
T |
A |
14: 25,654,936 (GRCm39) |
V685E |
probably damaging |
Het |
| Zp2 |
A |
T |
7: 119,735,268 (GRCm39) |
D368E |
probably 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 |
|
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 |
|
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 |
|
| Posted On |
2014-01-15 |
Incidental Mutation