Incidental Mutation 'R7712:Snx17'
| ID |
594670 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Snx17
|
| Ensembl Gene |
ENSMUSG00000029146 |
| Gene Name |
sorting nexin 17 |
| Synonyms |
D5Ertd260e, 5830447M19Rik, b2b1625.1Clo |
| MMRRC Submission |
045770-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.331)
|
| Stock # |
R7712 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
31350634-31356244 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 31352804 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Tyrosine
at position 101
(F101Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031029
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031029]
[ENSMUST00000031562]
[ENSMUST00000077693]
[ENSMUST00000114590]
[ENSMUST00000114603]
[ENSMUST00000166769]
[ENSMUST00000200730]
[ENSMUST00000201154]
[ENSMUST00000201535]
[ENSMUST00000201679]
[ENSMUST00000201968]
[ENSMUST00000202124]
[ENSMUST00000202758]
|
| AlphaFold |
Q8BVL3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031029
AA Change: F101Y
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000031029
Gene: ENSMUSG00000029146
AA Change: F101Y
| Domain | Start | End | E-Value | Type |
|---|
|
PX
|
1 |
105 |
3.42e-24 |
SMART |
|
B41
|
113 |
274 |
4.05e-2 |
SMART |
|
low complexity region
|
324 |
342 |
N/A |
INTRINSIC |
|
low complexity region
|
428 |
441 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031562
|
| SMART Domains |
Protein: ENSMUSP00000031562
Gene: ENSMUSG00000043059
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
35 |
55 |
N/A |
INTRINSIC |
|
low complexity region
|
100 |
117 |
N/A |
INTRINSIC |
|
low complexity region
|
121 |
144 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
148 |
170 |
1.33e-1 |
SMART |
|
ZnF_C2H2
|
176 |
198 |
2.86e-1 |
SMART |
|
ZnF_C2H2
|
204 |
226 |
1.06e-4 |
SMART |
|
low complexity region
|
227 |
238 |
N/A |
INTRINSIC |
|
low complexity region
|
340 |
354 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
358 |
380 |
1.03e-2 |
SMART |
|
ZnF_C2H2
|
386 |
408 |
5.42e-2 |
SMART |
|
ZnF_C2H2
|
414 |
436 |
2.91e-2 |
SMART |
|
ZnF_C2H2
|
442 |
464 |
1.38e-3 |
SMART |
|
ZnF_C2H2
|
470 |
492 |
5.06e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000077693
|
| SMART Domains |
Protein: ENSMUSP00000076875
Gene: ENSMUSG00000029145
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
15 |
N/A |
INTRINSIC |
|
coiled coil region
|
29 |
60 |
N/A |
INTRINSIC |
|
coiled coil region
|
93 |
122 |
N/A |
INTRINSIC |
|
Pfam:IF-2B
|
219 |
510 |
3.4e-97 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114590
|
| SMART Domains |
Protein: ENSMUSP00000110238
Gene: ENSMUSG00000043059
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
37 |
57 |
N/A |
INTRINSIC |
|
low complexity region
|
102 |
119 |
N/A |
INTRINSIC |
|
low complexity region
|
123 |
146 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
150 |
172 |
1.33e-1 |
SMART |
|
ZnF_C2H2
|
178 |
200 |
2.86e-1 |
SMART |
|
ZnF_C2H2
|
206 |
228 |
1.06e-4 |
SMART |
|
low complexity region
|
229 |
240 |
N/A |
INTRINSIC |
|
low complexity region
|
342 |
356 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
360 |
382 |
1.03e-2 |
SMART |
|
ZnF_C2H2
|
388 |
410 |
5.42e-2 |
SMART |
|
ZnF_C2H2
|
416 |
438 |
2.91e-2 |
SMART |
|
ZnF_C2H2
|
444 |
466 |
1.38e-3 |
SMART |
|
ZnF_C2H2
|
472 |
494 |
5.06e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114603
|
| SMART Domains |
Protein: ENSMUSP00000110250
Gene: ENSMUSG00000029145
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
26 |
N/A |
INTRINSIC |
|
coiled coil region
|
49 |
80 |
N/A |
INTRINSIC |
|
coiled coil region
|
113 |
142 |
N/A |
INTRINSIC |
|
Pfam:IF-2B
|
239 |
530 |
3.8e-97 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166769
|
| SMART Domains |
Protein: ENSMUSP00000130880
Gene: ENSMUSG00000029145
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
26 |
N/A |
INTRINSIC |
|
coiled coil region
|
49 |
80 |
N/A |
INTRINSIC |
|
coiled coil region
|
113 |
142 |
N/A |
INTRINSIC |
|
Pfam:IF-2B
|
239 |
530 |
3.8e-97 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200724
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200730
|
| SMART Domains |
Protein: ENSMUSP00000144504
Gene: ENSMUSG00000029146
| Domain | Start | End | E-Value | Type |
|---|
|
PX
|
1 |
87 |
2.3e-7 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200741
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200929
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201154
|
| SMART Domains |
Protein: ENSMUSP00000143802
Gene: ENSMUSG00000029145
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
26 |
N/A |
INTRINSIC |
|
coiled coil region
|
49 |
80 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000201535
AA Change: F19Y
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000144643
Gene: ENSMUSG00000029146
AA Change: F19Y
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PX
|
1 |
23 |
3e-7 |
BLAST |
|
PDB:3LUI|C
|
1 |
23 |
3e-8 |
PDB |
|
low complexity region
|
24 |
35 |
N/A |
INTRINSIC |
|
Blast:B41
|
36 |
169 |
5e-92 |
BLAST |
|
PDB:4GXB|A
|
36 |
169 |
4e-90 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201679
|
| SMART Domains |
Protein: ENSMUSP00000144688
Gene: ENSMUSG00000029146
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PX
|
6 |
67 |
2.7e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201968
|
| SMART Domains |
Protein: ENSMUSP00000144517
Gene: ENSMUSG00000043059
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
80 |
92 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202124
AA Change: F37I
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000144168
Gene: ENSMUSG00000029146
AA Change: F37I
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PX
|
1 |
31 |
6e-8 |
BLAST |
|
PDB:3LUI|C
|
1 |
31 |
4e-9 |
PDB |
|
low complexity region
|
41 |
54 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202758
|
| SMART Domains |
Protein: ENSMUSP00000144361
Gene: ENSMUSG00000029145
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
71 |
102 |
N/A |
INTRINSIC |
|
coiled coil region
|
135 |
164 |
N/A |
INTRINSIC |
|
Pfam:IF-2B
|
261 |
552 |
2.3e-97 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled coil region, like some family members, but contains a B41 domain. This protein interacts with the cytoplasmic domain of P-selectin, and may function in the intracellular trafficking of P-selectin. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2012]
PHENOTYPE: Mice homozygous for an ENU_induced mutation exhibit double outlet right ventricle (DORV)/overriding aorta (Ao) and atrioventricular septal defect (AVSD). Noncardiac phenotypes include anopthalmia and duplex kidneys. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
A |
C |
5: 114,303,799 (GRCm39) |
D74A |
probably benign |
Het |
| Alox15 |
T |
C |
11: 70,241,079 (GRCm39) |
|
probably null |
Het |
| Ano5 |
A |
G |
7: 51,222,805 (GRCm39) |
T455A |
probably benign |
Het |
| Ano5 |
T |
G |
7: 51,240,403 (GRCm39) |
I827S |
probably damaging |
Het |
| Arid1a |
G |
A |
4: 133,479,922 (GRCm39) |
A334V |
probably benign |
Het |
| Atp13a4 |
A |
G |
16: 29,278,305 (GRCm39) |
C298R |
|
Het |
| Atp4a |
T |
A |
7: 30,414,978 (GRCm39) |
S256T |
probably damaging |
Het |
| Atp6v1c1 |
G |
A |
15: 38,687,049 (GRCm39) |
V215I |
probably benign |
Het |
| Bbs9 |
T |
A |
9: 22,582,109 (GRCm39) |
F600L |
probably benign |
Het |
| Bmp8b |
A |
T |
4: 123,018,257 (GRCm39) |
Y376F |
possibly damaging |
Het |
| Cacna2d1 |
A |
T |
5: 16,567,347 (GRCm39) |
D986V |
probably damaging |
Het |
| Ccdc162 |
A |
G |
10: 41,503,223 (GRCm39) |
F973S |
possibly damaging |
Het |
| Ccdc177 |
G |
A |
12: 80,804,712 (GRCm39) |
Q521* |
probably null |
Het |
| Cd209b |
T |
A |
8: 3,973,299 (GRCm39) |
E158D |
possibly damaging |
Het |
| Cdk14 |
G |
A |
5: 5,430,061 (GRCm39) |
T22I |
possibly damaging |
Het |
| Chl1 |
A |
T |
6: 103,688,063 (GRCm39) |
I968F |
possibly damaging |
Het |
| Cnot7 |
T |
C |
8: 40,947,122 (GRCm39) |
Y255C |
probably damaging |
Het |
| Col4a2 |
T |
A |
8: 11,475,376 (GRCm39) |
L600H |
probably benign |
Het |
| Cpne7 |
C |
A |
8: 123,850,920 (GRCm39) |
L129M |
probably damaging |
Het |
| Cpxm2 |
G |
T |
7: 131,756,107 (GRCm39) |
P79Q |
possibly damaging |
Het |
| Dhx9 |
T |
A |
1: 153,340,747 (GRCm39) |
N631I |
probably benign |
Het |
| Dmxl1 |
T |
C |
18: 50,026,528 (GRCm39) |
S1879P |
probably damaging |
Het |
| Dnhd1 |
T |
A |
7: 105,300,831 (GRCm39) |
F63I |
probably benign |
Het |
| Dok7 |
A |
G |
5: 35,223,866 (GRCm39) |
N98S |
probably damaging |
Het |
| Fgd2 |
A |
G |
17: 29,595,886 (GRCm39) |
T515A |
probably benign |
Het |
| Fmo1 |
T |
C |
1: 162,663,704 (GRCm39) |
D275G |
probably benign |
Het |
| Gm5796 |
A |
G |
14: 15,379,960 (GRCm39) |
Y90C |
probably damaging |
Het |
| H60b |
C |
A |
10: 22,161,637 (GRCm39) |
H42N |
possibly damaging |
Het |
| Hipk2 |
A |
G |
6: 38,680,569 (GRCm39) |
S924P |
probably benign |
Het |
| Hpf1 |
C |
A |
8: 61,358,613 (GRCm39) |
S27* |
probably null |
Het |
| Idua |
T |
G |
5: 108,829,388 (GRCm39) |
D443E |
probably benign |
Het |
| Lamc2 |
C |
T |
1: 153,009,357 (GRCm39) |
G816D |
possibly damaging |
Het |
| Lgi3 |
T |
A |
14: 70,768,551 (GRCm39) |
V16E |
unknown |
Het |
| Lpar1 |
T |
A |
4: 58,486,795 (GRCm39) |
M159L |
probably benign |
Het |
| Magi2 |
A |
G |
5: 20,755,280 (GRCm39) |
D618G |
possibly damaging |
Het |
| Man2b2 |
C |
G |
5: 36,967,658 (GRCm39) |
Q903H |
probably benign |
Het |
| Marchf7 |
A |
T |
2: 60,065,334 (GRCm39) |
K537* |
probably null |
Het |
| Mcoln1 |
T |
C |
8: 3,555,873 (GRCm39) |
F56S |
probably damaging |
Het |
| Myh7 |
C |
G |
14: 55,226,258 (GRCm39) |
D461H |
probably damaging |
Het |
| Myo1b |
A |
T |
1: 51,832,836 (GRCm39) |
M383K |
probably damaging |
Het |
| Or12k7 |
A |
T |
2: 36,958,916 (GRCm39) |
T200S |
probably damaging |
Het |
| Or1f19 |
T |
C |
16: 3,410,295 (GRCm39) |
F12L |
probably damaging |
Het |
| Or8a1b |
T |
C |
9: 37,623,429 (GRCm39) |
I49V |
probably damaging |
Het |
| Pars2 |
T |
A |
4: 106,511,276 (GRCm39) |
Y353N |
probably damaging |
Het |
| Pcdha8 |
A |
C |
18: 37,125,737 (GRCm39) |
D73A |
possibly damaging |
Het |
| Pcdhga8 |
C |
T |
18: 37,860,102 (GRCm39) |
T386M |
possibly damaging |
Het |
| Pdzd2 |
G |
T |
15: 12,407,422 (GRCm39) |
T346N |
probably damaging |
Het |
| Pik3c2b |
A |
G |
1: 133,013,349 (GRCm39) |
Q781R |
probably damaging |
Het |
| Pp2d1 |
T |
A |
17: 53,815,318 (GRCm39) |
T469S |
possibly damaging |
Het |
| Sectm1a |
G |
A |
11: 120,959,631 (GRCm39) |
L166F |
probably damaging |
Het |
| Sgms1 |
T |
A |
19: 32,120,169 (GRCm39) |
M246L |
probably benign |
Het |
| Shroom3 |
G |
A |
5: 93,098,806 (GRCm39) |
G1429S |
probably benign |
Het |
| Sowahb |
C |
T |
5: 93,191,240 (GRCm39) |
S493N |
probably benign |
Het |
| Spc25 |
T |
A |
2: 69,036,481 (GRCm39) |
R7S |
unknown |
Het |
| Sult2b1 |
A |
G |
7: 45,379,620 (GRCm39) |
I308T |
probably benign |
Het |
| Tkt |
A |
G |
14: 30,280,763 (GRCm39) |
N65D |
probably benign |
Het |
| Ttc5 |
A |
T |
14: 51,010,769 (GRCm39) |
S221T |
probably benign |
Het |
| Ubr5 |
G |
A |
15: 37,980,076 (GRCm39) |
A2434V |
probably null |
Het |
| Wipf1 |
A |
C |
2: 73,274,805 (GRCm39) |
S55R |
probably damaging |
Het |
| Zdbf2 |
T |
C |
1: 63,344,530 (GRCm39) |
S970P |
possibly damaging |
Het |
| Zfp354c |
TCACACTCGGCACA |
TCACA |
11: 50,706,067 (GRCm39) |
|
probably benign |
Het |
| Zfp362 |
A |
T |
4: 128,671,203 (GRCm39) |
H313Q |
probably benign |
Het |
| Zfy2 |
T |
A |
Y: 2,121,420 (GRCm39) |
I158F |
probably benign |
Het |
|
| Other mutations in Snx17 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00771:Snx17
|
APN |
5 |
31,354,679 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01406:Snx17
|
APN |
5 |
31,353,338 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01955:Snx17
|
APN |
5 |
31,354,426 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02724:Snx17
|
APN |
5 |
31,354,390 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03032:Snx17
|
APN |
5 |
31,353,355 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL03277:Snx17
|
APN |
5 |
31,353,084 (GRCm39) |
unclassified |
probably benign |
|
|
R0542:Snx17
|
UTSW |
5 |
31,353,895 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1188:Snx17
|
UTSW |
5 |
31,353,166 (GRCm39) |
missense |
probably benign |
0.18 |
|
R4597:Snx17
|
UTSW |
5 |
31,355,857 (GRCm39) |
unclassified |
probably benign |
|
|
R4983:Snx17
|
UTSW |
5 |
31,353,138 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7156:Snx17
|
UTSW |
5 |
31,354,692 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7583:Snx17
|
UTSW |
5 |
31,353,877 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R7711:Snx17
|
UTSW |
5 |
31,352,804 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8114:Snx17
|
UTSW |
5 |
31,355,046 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8893:Snx17
|
UTSW |
5 |
31,353,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9120:Snx17
|
UTSW |
5 |
31,355,026 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9527:Snx17
|
UTSW |
5 |
31,353,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9562:Snx17
|
UTSW |
5 |
31,355,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9565:Snx17
|
UTSW |
5 |
31,355,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Snx17
|
UTSW |
5 |
31,354,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAACTAGATGGCAGCCAAG -3'
(R):5'- TCTTGACTTCAGCGGTACAG -3'
Sequencing Primer
(F):5'- ATTTATGCAAACAGTGTGTGAGG -3'
(R):5'- TCTTGACTTCAGCGGTACAGTAGAAG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation