Incidental Mutation 'R9120:Snx17'
| ID |
692724 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Snx17
|
| Ensembl Gene |
ENSMUSG00000029146 |
| Gene Name |
sorting nexin 17 |
| Synonyms |
D5Ertd260e, 5830447M19Rik, b2b1625.1Clo |
| MMRRC Submission |
068923-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.310)
|
| Stock # |
R9120 (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 G
at 31355026 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 347
(E347G)
|
| 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 damaging
Transcript: ENSMUST00000031029
AA Change: E347G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000031029
Gene: ENSMUSG00000029146
AA Change: E347G
| 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 |
0.8199 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (54/54) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam25 |
A |
G |
8: 41,209,141 (GRCm39) |
|
probably benign |
Het |
| Adgrb2 |
A |
G |
4: 129,906,302 (GRCm39) |
N910S |
possibly damaging |
Het |
| Arhgap24 |
A |
T |
5: 103,040,016 (GRCm39) |
I411F |
probably benign |
Het |
| BC030500 |
T |
A |
8: 59,365,911 (GRCm39) |
L15Q |
unknown |
Het |
| BC051665 |
A |
G |
13: 60,932,916 (GRCm39) |
V15A |
probably benign |
Het |
| Bicc1 |
T |
C |
10: 70,776,862 (GRCm39) |
D732G |
probably damaging |
Het |
| Bpifb1 |
A |
G |
2: 154,046,692 (GRCm39) |
I71V |
probably benign |
Het |
| Btnl1 |
A |
T |
17: 34,598,681 (GRCm39) |
Q99L |
possibly damaging |
Het |
| Castor1 |
T |
A |
11: 4,170,767 (GRCm39) |
V196D |
possibly damaging |
Het |
| Col9a2 |
G |
T |
4: 120,900,951 (GRCm39) |
|
probably benign |
Het |
| D7Ertd443e |
T |
A |
7: 133,871,986 (GRCm39) |
D625V |
probably damaging |
Het |
| Dchs2 |
A |
T |
3: 83,187,535 (GRCm39) |
D1327V |
probably damaging |
Het |
| Ddx1 |
A |
G |
12: 13,275,458 (GRCm39) |
V543A |
possibly damaging |
Het |
| Dgkz |
G |
T |
2: 91,768,545 (GRCm39) |
D714E |
probably benign |
Het |
| Dlk1 |
A |
G |
12: 109,424,051 (GRCm39) |
D105G |
probably benign |
Het |
| Fndc3a |
A |
G |
14: 72,802,133 (GRCm39) |
F557L |
probably benign |
Het |
| Gm28042 |
C |
T |
2: 119,869,462 (GRCm39) |
L609F |
probably damaging |
Het |
| Gsap |
A |
G |
5: 21,458,434 (GRCm39) |
I473V |
probably damaging |
Het |
| Jag1 |
A |
T |
2: 136,930,354 (GRCm39) |
M730K |
probably benign |
Het |
| Kazald1 |
A |
T |
19: 45,065,211 (GRCm39) |
T31S |
probably benign |
Het |
| Ldhb |
A |
G |
6: 142,439,935 (GRCm39) |
W202R |
probably damaging |
Het |
| Lrrcc1 |
C |
T |
3: 14,615,489 (GRCm39) |
Q528* |
probably null |
Het |
| Magi2 |
A |
T |
5: 20,733,305 (GRCm39) |
K525I |
possibly damaging |
Het |
| Map2 |
A |
G |
1: 66,453,218 (GRCm39) |
I703V |
probably damaging |
Het |
| Mdn1 |
A |
T |
4: 32,701,814 (GRCm39) |
M1516L |
probably damaging |
Het |
| Mpzl2 |
T |
A |
9: 44,958,583 (GRCm39) |
S186R |
probably benign |
Het |
| Mtif2 |
T |
C |
11: 29,483,951 (GRCm39) |
M208T |
probably benign |
Het |
| Myo3a |
T |
C |
2: 22,436,464 (GRCm39) |
V873A |
probably benign |
Het |
| Or10ac1 |
A |
C |
6: 42,515,583 (GRCm39) |
Y124* |
probably null |
Het |
| Or1j4 |
T |
A |
2: 36,740,143 (GRCm39) |
Y28* |
probably null |
Het |
| Or5d38 |
A |
G |
2: 87,955,123 (GRCm39) |
S69P |
probably damaging |
Het |
| Or5p6 |
T |
C |
7: 107,630,887 (GRCm39) |
Y221C |
probably damaging |
Het |
| Or8g51 |
A |
G |
9: 38,608,735 (GRCm39) |
F309S |
probably benign |
Het |
| Pgap4 |
A |
G |
4: 49,587,093 (GRCm39) |
V25A |
probably benign |
Het |
| Plod2 |
G |
T |
9: 92,424,380 (GRCm39) |
|
probably benign |
Het |
| Rgs14 |
A |
C |
13: 55,528,792 (GRCm39) |
D311A |
probably damaging |
Het |
| Rin1 |
C |
A |
19: 5,103,048 (GRCm39) |
P446T |
probably damaging |
Het |
| Ripor3 |
T |
C |
2: 167,822,835 (GRCm39) |
K909E |
possibly damaging |
Het |
| Rnf139 |
T |
C |
15: 58,771,685 (GRCm39) |
L570P |
probably damaging |
Het |
| Spaca1 |
A |
G |
4: 34,029,168 (GRCm39) |
S220P |
probably damaging |
Het |
| Spen |
G |
T |
4: 141,200,233 (GRCm39) |
T2798K |
|
Het |
| Tacc1 |
G |
T |
8: 25,659,255 (GRCm39) |
S570R |
probably damaging |
Het |
| Tmem135 |
G |
C |
7: 88,797,186 (GRCm39) |
L357V |
probably benign |
Het |
| Trim63 |
G |
A |
4: 134,055,003 (GRCm39) |
|
probably benign |
Het |
| Trmt2a |
C |
A |
16: 18,067,722 (GRCm39) |
R132S |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,768,716 (GRCm39) |
E2952G |
unknown |
Het |
| Tyw1 |
G |
A |
5: 130,298,065 (GRCm39) |
R202Q |
probably damaging |
Het |
| Vmn1r211 |
A |
T |
13: 23,035,936 (GRCm39) |
F244I |
probably damaging |
Het |
| Vmn2r86 |
T |
G |
10: 130,289,677 (GRCm39) |
S73R |
probably benign |
Het |
| Wdr27 |
A |
G |
17: 15,152,846 (GRCm39) |
L87P |
probably damaging |
Het |
| Zfp148 |
A |
G |
16: 33,317,596 (GRCm39) |
N756S |
probably benign |
Het |
| Zfp57 |
G |
A |
17: 37,320,650 (GRCm39) |
R168H |
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 |
|
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 |
|
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'- GTTACCCGAATGCGATGCTG -3'
(R):5'- GGCAAGAAGGTGACTCAGTC -3'
Sequencing Primer
(F):5'- ATGCTAGTACTGGCCTGGAAC -3'
(R):5'- TGACTCAGTCTGAAGAGAAGTCATCC -3'
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| Posted On |
2021-12-30 |
Incidental Mutation