Incidental Mutation 'R6544:Sox17'
| ID |
520976 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sox17
|
| Ensembl Gene |
ENSMUSG00000025902 |
| Gene Name |
SRY (sex determining region Y)-box 17 |
| Synonyms |
|
| MMRRC Submission |
044670-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6544 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
4561154-4567577 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 4562655 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Threonine
at position 117
(P117T)
|
| 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 benign
Transcript: ENSMUST00000027035
AA Change: P182T
PolyPhen 2
Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000027035
Gene: ENSMUSG00000025902
AA Change: P182T
| 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 benign
Transcript: ENSMUST00000116652
AA Change: P182T
PolyPhen 2
Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000112351
Gene: ENSMUSG00000025902
AA Change: P182T
| 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 |
possibly damaging
Transcript: ENSMUST00000192650
AA Change: P117T
PolyPhen 2
Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000142116
Gene: ENSMUSG00000025902
AA Change: P117T
| 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 benign
Transcript: ENSMUST00000195555
AA Change: P54T
PolyPhen 2
Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000141894
Gene: ENSMUSG00000025902
AA Change: P54T
| 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
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
| Validation Efficiency |
100% (48/48) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A030005K14Rik |
T |
A |
1: 83,036,678 (GRCm39) |
K118* |
probably null |
Het |
| Actr2 |
A |
G |
11: 20,050,933 (GRCm39) |
F17L |
probably damaging |
Het |
| Adam26b |
T |
C |
8: 43,974,818 (GRCm39) |
I61M |
probably damaging |
Het |
| Ahcyl |
A |
C |
16: 45,975,147 (GRCm39) |
S77A |
probably benign |
Het |
| Ahnak2 |
A |
G |
12: 112,746,829 (GRCm39) |
|
probably benign |
Het |
| Angptl3 |
T |
C |
4: 98,919,675 (GRCm39) |
L145P |
probably damaging |
Het |
| Ank2 |
T |
C |
3: 126,726,871 (GRCm39) |
T808A |
probably damaging |
Het |
| Ark2c |
T |
A |
18: 77,650,931 (GRCm39) |
|
probably benign |
Het |
| Cadm3 |
A |
G |
1: 173,194,977 (GRCm39) |
|
probably null |
Het |
| Cog7 |
C |
T |
7: 121,534,966 (GRCm39) |
R573Q |
probably damaging |
Het |
| Dchs1 |
T |
A |
7: 105,407,385 (GRCm39) |
I2110F |
probably damaging |
Het |
| Fbxo47 |
G |
A |
11: 97,747,089 (GRCm39) |
R326C |
probably damaging |
Het |
| Frmpd1 |
A |
T |
4: 45,279,024 (GRCm39) |
D583V |
probably damaging |
Het |
| Gigyf1 |
T |
A |
5: 137,523,321 (GRCm39) |
L911Q |
probably damaging |
Het |
| Gprin1 |
G |
A |
13: 54,888,124 (GRCm39) |
A50V |
possibly damaging |
Het |
| Grik4 |
A |
T |
9: 42,459,024 (GRCm39) |
Y571* |
probably null |
Het |
| Gucy2e |
A |
G |
11: 69,126,483 (GRCm39) |
V299A |
probably benign |
Het |
| Hectd2 |
C |
T |
19: 36,589,728 (GRCm39) |
L618F |
probably damaging |
Het |
| Lactbl1 |
A |
T |
4: 136,360,300 (GRCm39) |
I160F |
possibly damaging |
Het |
| Lats1 |
T |
A |
10: 7,577,434 (GRCm39) |
V186D |
possibly damaging |
Het |
| Lmtk2 |
A |
G |
5: 144,110,624 (GRCm39) |
H448R |
possibly damaging |
Het |
| Map10 |
T |
C |
8: 126,398,113 (GRCm39) |
I502T |
probably benign |
Het |
| Mok |
A |
G |
12: 110,777,189 (GRCm39) |
F239S |
probably damaging |
Het |
| Mprip |
G |
A |
11: 59,648,552 (GRCm39) |
G752D |
probably benign |
Het |
| Naip5 |
C |
A |
13: 100,359,652 (GRCm39) |
G528V |
possibly damaging |
Het |
| Neu2 |
T |
C |
1: 87,524,464 (GRCm39) |
W150R |
probably damaging |
Het |
| Or1ak2 |
T |
A |
2: 36,827,539 (GRCm39) |
M136K |
possibly damaging |
Het |
| Or5an1 |
T |
C |
19: 12,260,519 (GRCm39) |
Y36H |
probably damaging |
Het |
| Or5as1 |
T |
A |
2: 86,980,207 (GRCm39) |
Y266F |
probably damaging |
Het |
| Or5l13 |
T |
A |
2: 87,780,335 (GRCm39) |
M81L |
probably benign |
Het |
| Pip5k1c |
T |
A |
10: 81,144,830 (GRCm39) |
Y224N |
probably damaging |
Het |
| Plch1 |
T |
C |
3: 63,758,399 (GRCm39) |
E5G |
probably damaging |
Het |
| Pspc1 |
T |
C |
14: 57,001,660 (GRCm39) |
*59W |
probably null |
Het |
| Ptprq |
T |
C |
10: 107,444,102 (GRCm39) |
T1501A |
probably damaging |
Het |
| Rorb |
G |
T |
19: 18,929,614 (GRCm39) |
P304T |
possibly damaging |
Het |
| Scn7a |
A |
T |
2: 66,514,444 (GRCm39) |
L1110Q |
probably damaging |
Het |
| Serpine2 |
C |
T |
1: 79,780,847 (GRCm39) |
|
probably null |
Het |
| Slco1c1 |
A |
G |
6: 141,477,170 (GRCm39) |
|
probably null |
Het |
| Smarca2 |
T |
A |
19: 26,608,331 (GRCm39) |
V130D |
probably damaging |
Het |
| Sparcl1 |
A |
T |
5: 104,240,310 (GRCm39) |
Y371* |
probably null |
Het |
| Tdpoz2 |
T |
C |
3: 93,559,267 (GRCm39) |
D235G |
possibly damaging |
Het |
| Tns2 |
A |
C |
15: 102,022,269 (GRCm39) |
K1182N |
possibly damaging |
Het |
| Tpte |
G |
T |
8: 22,805,121 (GRCm39) |
|
probably null |
Het |
| Ttn |
A |
T |
2: 76,799,503 (GRCm39) |
I459K |
possibly damaging |
Het |
| Wdr97 |
T |
C |
15: 76,242,478 (GRCm39) |
Y823H |
probably benign |
Het |
| Zc3h15 |
G |
A |
2: 83,491,492 (GRCm39) |
R240H |
probably benign |
Het |
| Zfp455 |
C |
A |
13: 67,355,121 (GRCm39) |
L130I |
probably benign |
Het |
| Zfp777 |
A |
T |
6: 48,021,419 (GRCm39) |
S68T |
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 |
|
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 |
|
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'- ACACTGCATAGTCCGAGACTG -3'
(R):5'- TTGACCTTGGCAGAGAAGC -3'
Sequencing Primer
(F):5'- CATAGTCCGAGACTGGAGCG -3'
(R):5'- CTTCGTGGAAGAGGCCGAG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation