Incidental Mutation 'R8114:Snx17'
| ID |
631054 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Snx17
|
| Ensembl Gene |
ENSMUSG00000029146 |
| Gene Name |
sorting nexin 17 |
| Synonyms |
D5Ertd260e, 5830447M19Rik, b2b1625.1Clo |
| MMRRC Submission |
067543-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.331)
|
| Stock # |
R8114 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
31350634-31356244 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 31355046 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 354
(M354L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031029
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031029]
[ENSMUST00000031032]
[ENSMUST00000031562]
[ENSMUST00000077693]
[ENSMUST00000114590]
[ENSMUST00000114603]
[ENSMUST00000166769]
[ENSMUST00000200730]
[ENSMUST00000201154]
[ENSMUST00000201231]
[ENSMUST00000201535]
[ENSMUST00000201679]
[ENSMUST00000201968]
[ENSMUST00000202124]
[ENSMUST00000202294]
[ENSMUST00000202758]
[ENSMUST00000202929]
|
| AlphaFold |
Q8BVL3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031029
AA Change: M354L
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000031029
Gene: ENSMUSG00000029146
AA Change: M354L
| 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: ENSMUST00000031032
|
| SMART Domains |
Protein: ENSMUSP00000031032
Gene: ENSMUSG00000029147
| Domain | Start | End | E-Value | Type |
|---|
|
PP2Cc
|
15 |
500 |
9.7e-103 |
SMART |
|
PP2C_SIG
|
219 |
502 |
1.05e0 |
SMART |
|
| 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: 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: 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 benign
Transcript: ENSMUST00000201231
|
| SMART Domains |
Protein: ENSMUSP00000144172
Gene: ENSMUSG00000043059
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
35 |
55 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201535
|
| SMART Domains |
Protein: ENSMUSP00000144643
Gene: ENSMUSG00000029146
| 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
|
| SMART Domains |
Protein: ENSMUSP00000144168
Gene: ENSMUSG00000029146
| 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: ENSMUST00000202294
|
| SMART Domains |
Protein: ENSMUSP00000144644
Gene: ENSMUSG00000029147
| Domain | Start | End | E-Value | Type |
|---|
|
PP2Cc
|
15 |
393 |
6.6e-105 |
SMART |
|
PP2C_SIG
|
38 |
395 |
3.7e-3 |
SMART |
|
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202929
|
| SMART Domains |
Protein: ENSMUSP00000143817
Gene: ENSMUSG00000043059
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
50 |
67 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0657 |
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.5%
- 10x: 98.5%
- 20x: 94.7%
|
| Validation Efficiency |
100% (64/64) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630010A05Rik |
G |
T |
16: 14,407,091 (GRCm39) |
E7* |
probably null |
Het |
| Abca7 |
T |
C |
10: 79,844,874 (GRCm39) |
I1532T |
probably damaging |
Het |
| Adam12 |
T |
C |
7: 133,569,617 (GRCm39) |
D286G |
probably damaging |
Het |
| Ahnak2 |
T |
C |
12: 112,741,163 (GRCm39) |
T970A |
probably benign |
Het |
| Apcdd1 |
A |
G |
18: 63,083,127 (GRCm39) |
N319S |
probably damaging |
Het |
| Arih1 |
A |
G |
9: 59,303,836 (GRCm39) |
M423T |
probably benign |
Het |
| Ccdc110 |
A |
T |
8: 46,396,140 (GRCm39) |
Q677L |
probably damaging |
Het |
| Ccdc121rt3 |
C |
A |
5: 112,503,563 (GRCm39) |
R47L |
probably benign |
Het |
| Ccdc171 |
A |
G |
4: 83,614,537 (GRCm39) |
N1046S |
probably damaging |
Het |
| Ccdc63 |
G |
T |
5: 122,251,244 (GRCm39) |
Q389K |
possibly damaging |
Het |
| Cd274 |
T |
C |
19: 29,361,528 (GRCm39) |
S279P |
probably damaging |
Het |
| Cdcp2 |
A |
T |
4: 106,962,555 (GRCm39) |
I243F |
probably damaging |
Het |
| Cfap298 |
T |
C |
16: 90,731,545 (GRCm39) |
T22A |
probably benign |
Het |
| Cul2 |
A |
T |
18: 3,426,164 (GRCm39) |
K414* |
probably null |
Het |
| Daglb |
A |
G |
5: 143,464,218 (GRCm39) |
H243R |
probably benign |
Het |
| Dnah5 |
A |
T |
15: 28,240,122 (GRCm39) |
Y493F |
probably benign |
Het |
| Dsc2 |
C |
T |
18: 20,165,331 (GRCm39) |
G881R |
possibly damaging |
Het |
| Eea1 |
G |
T |
10: 95,830,851 (GRCm39) |
E171* |
probably null |
Het |
| Eml6 |
C |
T |
11: 29,704,910 (GRCm39) |
G1545R |
probably damaging |
Het |
| Epg5 |
A |
G |
18: 78,073,365 (GRCm39) |
I2463V |
probably benign |
Het |
| Fgl1 |
A |
G |
8: 41,644,620 (GRCm39) |
Y295H |
probably damaging |
Het |
| Frrs1 |
A |
G |
3: 116,675,425 (GRCm39) |
T118A |
probably damaging |
Het |
| Gdi2 |
T |
C |
13: 3,598,906 (GRCm39) |
V30A |
probably damaging |
Het |
| Ints4 |
A |
G |
7: 97,165,732 (GRCm39) |
|
probably null |
Het |
| Iqsec3 |
A |
G |
6: 121,390,458 (GRCm39) |
S338P |
unknown |
Het |
| Klhl3 |
C |
T |
13: 58,161,677 (GRCm39) |
V473M |
possibly damaging |
Het |
| Ldah |
A |
G |
12: 8,334,039 (GRCm39) |
E310G |
probably damaging |
Het |
| Mtnr1b |
A |
G |
9: 15,785,563 (GRCm39) |
V65A |
probably damaging |
Het |
| Myo7b |
G |
T |
18: 32,098,677 (GRCm39) |
T1735K |
probably damaging |
Het |
| Neb |
A |
T |
2: 52,215,734 (GRCm39) |
V191D |
possibly damaging |
Het |
| Oas1e |
T |
C |
5: 120,924,708 (GRCm39) |
T377A |
unknown |
Het |
| Odr4 |
A |
T |
1: 150,264,308 (GRCm39) |
L67* |
probably null |
Het |
| Or10al6 |
T |
C |
17: 38,082,880 (GRCm39) |
F112S |
possibly damaging |
Het |
| Or10v9 |
G |
A |
19: 11,832,466 (GRCm39) |
P284S |
probably damaging |
Het |
| Or8k53 |
A |
T |
2: 86,177,530 (GRCm39) |
H193Q |
probably benign |
Het |
| Platr25 |
T |
C |
13: 62,821,738 (GRCm39) |
S70G |
possibly damaging |
Het |
| Plcl2 |
T |
C |
17: 50,994,815 (GRCm39) |
S1095P |
probably damaging |
Het |
| Polq |
A |
G |
16: 36,862,577 (GRCm39) |
K637E |
possibly damaging |
Het |
| Rbm47 |
T |
C |
5: 66,184,196 (GRCm39) |
I136V |
probably benign |
Het |
| Serpinb3c |
A |
C |
1: 107,204,034 (GRCm39) |
N59K |
probably benign |
Het |
| Shcbp1 |
T |
A |
8: 4,817,930 (GRCm39) |
N122Y |
probably damaging |
Het |
| Sim2 |
T |
C |
16: 93,923,503 (GRCm39) |
V347A |
probably benign |
Het |
| Slc22a30 |
A |
T |
19: 8,381,904 (GRCm39) |
Y122* |
probably null |
Het |
| Slc34a2 |
G |
A |
5: 53,225,701 (GRCm39) |
S450N |
probably benign |
Het |
| Stard9 |
G |
A |
2: 120,534,911 (GRCm39) |
G3723S |
probably benign |
Het |
| Surf6 |
G |
A |
2: 26,782,380 (GRCm39) |
Q316* |
probably null |
Het |
| Tiprl |
A |
G |
1: 165,055,991 (GRCm39) |
S44P |
probably benign |
Het |
| Tmem39a |
T |
G |
16: 38,411,359 (GRCm39) |
L438R |
probably damaging |
Het |
| Tmem39a |
C |
A |
16: 38,411,358 (GRCm39) |
L438M |
probably damaging |
Het |
| Tns2 |
G |
C |
15: 102,019,825 (GRCm39) |
V572L |
probably benign |
Het |
| Trdn |
T |
C |
10: 32,959,624 (GRCm39) |
|
probably benign |
Het |
| Trpc7 |
T |
C |
13: 56,952,411 (GRCm39) |
I587V |
probably benign |
Het |
| Usp47 |
A |
G |
7: 111,692,394 (GRCm39) |
D952G |
probably damaging |
Het |
| Vmn2r58 |
A |
T |
7: 41,511,392 (GRCm39) |
N470K |
probably damaging |
Het |
| Vmn2r67 |
A |
T |
7: 84,805,097 (GRCm39) |
I5N |
probably benign |
Het |
| Wdfy4 |
G |
A |
14: 32,826,072 (GRCm39) |
P1193L |
|
Het |
| Ythdc2 |
A |
G |
18: 45,010,807 (GRCm39) |
D1272G |
probably benign |
Het |
| Zfp959 |
A |
G |
17: 56,205,496 (GRCm39) |
Y511C |
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 |
|
R7712:Snx17
|
UTSW |
5 |
31,352,804 (GRCm39) |
missense |
probably damaging |
0.97 |
|
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'- GTGTTACCCGAATGCGATGC -3'
(R):5'- ACTGCAGGCAGATGCTCATC -3'
Sequencing Primer
(F):5'- ATGCTAGTACTGGCCTGGAAC -3'
(R):5'- ATGCTCATCATGATAGCCTAAGGGC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation