Incidental Mutation 'R0542:Snx17'
ID |
49977 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Snx17
|
Ensembl Gene |
ENSMUSG00000029146 |
Gene Name |
sorting nexin 17 |
Synonyms |
D5Ertd260e, 5830447M19Rik, b2b1625.1Clo |
MMRRC Submission |
038734-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.331)
|
Stock # |
R0542 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
31350634-31356244 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (1 bp from exon) |
DNA Base Change (assembly) |
G to T
at 31353895 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144643
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031029]
[ENSMUST00000031562]
[ENSMUST00000077693]
[ENSMUST00000114590]
[ENSMUST00000114603]
[ENSMUST00000200730]
[ENSMUST00000201535]
[ENSMUST00000201535]
[ENSMUST00000166769]
[ENSMUST00000201154]
[ENSMUST00000201968]
[ENSMUST00000201679]
[ENSMUST00000201231]
[ENSMUST00000202124]
[ENSMUST00000202929]
[ENSMUST00000202758]
|
AlphaFold |
Q8BVL3 |
Predicted Effect |
probably null
Transcript: ENSMUST00000031029
|
SMART Domains |
Protein: ENSMUSP00000031029 Gene: ENSMUSG00000029146
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 null
Transcript: ENSMUST00000132471
|
SMART Domains |
Protein: ENSMUSP00000116961 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 null
Transcript: ENSMUST00000147145
|
SMART Domains |
Protein: ENSMUSP00000135387 Gene: ENSMUSG00000029146
Domain | Start | End | E-Value | Type |
PX
|
1 |
87 |
2.3e-7 |
SMART |
|
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 null
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 null
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 |
noncoding transcript
Transcript: ENSMUST00000201343
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201835
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200992
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200983
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201078
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201119
|
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: 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: 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: 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: ENSMUST00000200724
|
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 |
noncoding transcript
Transcript: ENSMUST00000202032
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202318
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202323
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202468
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202743
|
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: ENSMUST00000202929
|
SMART Domains |
Protein: ENSMUSP00000143817 Gene: ENSMUSG00000043059
Domain | Start | End | E-Value | Type |
low complexity region
|
50 |
67 |
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 |
|
Meta Mutation Damage Score |
0.9594 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.0%
|
Validation Efficiency |
99% (70/71) |
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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd12b |
C |
A |
12: 70,210,269 (GRCm39) |
N71K |
possibly damaging |
Het |
Adgrl2 |
A |
G |
3: 148,564,854 (GRCm39) |
I242T |
probably damaging |
Het |
Adgrv1 |
A |
G |
13: 81,721,437 (GRCm39) |
S714P |
probably damaging |
Het |
Agap3 |
G |
A |
5: 24,705,184 (GRCm39) |
R704Q |
possibly damaging |
Het |
Ankrd11 |
T |
C |
8: 123,622,509 (GRCm39) |
R448G |
probably damaging |
Het |
Anks1b |
T |
C |
10: 89,909,829 (GRCm39) |
|
probably benign |
Het |
Caml |
A |
T |
13: 55,770,974 (GRCm39) |
Q24L |
possibly damaging |
Het |
Cdc14b |
G |
A |
13: 64,391,497 (GRCm39) |
T124I |
probably benign |
Het |
Clca3a2 |
A |
G |
3: 144,781,571 (GRCm39) |
|
probably benign |
Het |
Col12a1 |
A |
G |
9: 79,512,610 (GRCm39) |
|
probably null |
Het |
Crispld1 |
T |
C |
1: 17,816,992 (GRCm39) |
V183A |
possibly damaging |
Het |
Cstdc1 |
A |
G |
2: 148,624,092 (GRCm39) |
N22S |
probably benign |
Het |
Dhx40 |
C |
T |
11: 86,695,082 (GRCm39) |
|
probably null |
Het |
Dmxl1 |
T |
A |
18: 50,026,761 (GRCm39) |
D1956E |
probably benign |
Het |
Dsc2 |
A |
G |
18: 20,184,283 (GRCm39) |
V35A |
probably damaging |
Het |
Dync2i2 |
A |
G |
2: 29,921,837 (GRCm39) |
V508A |
probably damaging |
Het |
Elovl2 |
A |
G |
13: 41,345,452 (GRCm39) |
|
probably benign |
Het |
Gapvd1 |
T |
C |
2: 34,615,048 (GRCm39) |
|
probably benign |
Het |
Gnaq |
T |
A |
19: 16,196,982 (GRCm39) |
I56N |
probably damaging |
Het |
Gpr139 |
T |
C |
7: 118,744,306 (GRCm39) |
D93G |
probably benign |
Het |
Hars1 |
C |
T |
18: 36,904,234 (GRCm39) |
R215H |
probably benign |
Het |
Helz2 |
C |
A |
2: 180,873,882 (GRCm39) |
W2204L |
probably damaging |
Het |
Ift70b |
A |
G |
2: 75,767,055 (GRCm39) |
V566A |
probably damaging |
Het |
Itgb6 |
A |
T |
2: 60,435,480 (GRCm39) |
C757S |
possibly damaging |
Het |
Kpnb1 |
G |
A |
11: 97,078,398 (GRCm39) |
T5I |
probably benign |
Het |
Krt82 |
T |
C |
15: 101,454,035 (GRCm39) |
|
probably benign |
Het |
Lgals9 |
T |
A |
11: 78,860,546 (GRCm39) |
K175N |
possibly damaging |
Het |
Lrp2 |
A |
G |
2: 69,258,998 (GRCm39) |
I4564T |
probably benign |
Het |
Mblac1 |
A |
G |
5: 138,192,798 (GRCm39) |
T47A |
possibly damaging |
Het |
Med12l |
G |
A |
3: 58,949,822 (GRCm39) |
D182N |
probably damaging |
Het |
Megf9 |
A |
G |
4: 70,353,585 (GRCm39) |
I407T |
probably benign |
Het |
Mtmr6 |
A |
T |
14: 60,529,578 (GRCm39) |
|
probably null |
Het |
Mtor |
A |
G |
4: 148,624,907 (GRCm39) |
T2173A |
probably benign |
Het |
Mzt1 |
A |
T |
14: 99,277,938 (GRCm39) |
|
probably benign |
Het |
Narf |
T |
C |
11: 121,143,690 (GRCm39) |
L444P |
probably damaging |
Het |
Nsd1 |
A |
T |
13: 55,408,271 (GRCm39) |
Q1305L |
possibly damaging |
Het |
Ntsr1 |
A |
G |
2: 180,184,374 (GRCm39) |
Y359C |
probably damaging |
Het |
Olfm1 |
A |
G |
2: 28,104,640 (GRCm39) |
D159G |
possibly damaging |
Het |
Or2l13b |
A |
T |
16: 19,348,732 (GRCm39) |
*313R |
probably null |
Het |
Pcdh1 |
C |
T |
18: 38,322,975 (GRCm39) |
V953I |
probably damaging |
Het |
Pcdhb11 |
A |
T |
18: 37,556,887 (GRCm39) |
D739V |
probably damaging |
Het |
Pdgfd |
A |
G |
9: 6,359,769 (GRCm39) |
N280S |
probably damaging |
Het |
Per2 |
A |
T |
1: 91,366,054 (GRCm39) |
|
probably null |
Het |
Pfkp |
G |
T |
13: 6,672,028 (GRCm39) |
C122* |
probably null |
Het |
Plxna4 |
G |
A |
6: 32,169,232 (GRCm39) |
R1322W |
probably damaging |
Het |
Ppox |
A |
G |
1: 171,106,818 (GRCm39) |
L202P |
probably damaging |
Het |
Ppp1r3e |
G |
A |
14: 55,114,588 (GRCm39) |
P58L |
probably benign |
Het |
Prr23a2 |
A |
C |
9: 98,739,086 (GRCm39) |
N148T |
probably benign |
Het |
Psd |
T |
C |
19: 46,302,649 (GRCm39) |
T842A |
probably damaging |
Het |
Ranbp2 |
C |
T |
10: 58,314,236 (GRCm39) |
A1652V |
probably benign |
Het |
Rragd |
G |
A |
4: 33,007,103 (GRCm39) |
V144M |
probably damaging |
Het |
Sema6a |
T |
G |
18: 47,381,643 (GRCm39) |
D968A |
probably damaging |
Het |
Slc30a5 |
A |
T |
13: 100,945,793 (GRCm39) |
|
probably null |
Het |
Styxl2 |
A |
T |
1: 165,928,853 (GRCm39) |
M253K |
possibly damaging |
Het |
Syt14 |
G |
T |
1: 192,613,111 (GRCm39) |
T563K |
probably damaging |
Het |
Tada3 |
T |
C |
6: 113,352,175 (GRCm39) |
K85E |
probably damaging |
Het |
Tspear |
T |
C |
10: 77,716,921 (GRCm39) |
V532A |
probably benign |
Het |
Ttn |
A |
T |
2: 76,723,453 (GRCm39) |
C6426S |
possibly damaging |
Het |
Unc79 |
T |
C |
12: 103,060,437 (GRCm39) |
|
probably benign |
Het |
Usp19 |
A |
G |
9: 108,371,584 (GRCm39) |
|
probably null |
Het |
Vav3 |
G |
A |
3: 109,434,746 (GRCm39) |
D426N |
probably damaging |
Het |
Vezt |
T |
C |
10: 93,842,958 (GRCm39) |
|
probably null |
Het |
Vldlr |
G |
T |
19: 27,213,655 (GRCm39) |
R114L |
probably benign |
Het |
Wwc2 |
C |
T |
8: 48,321,414 (GRCm39) |
V567I |
unknown |
Het |
Zfp423 |
T |
C |
8: 88,507,237 (GRCm39) |
T911A |
probably damaging |
Het |
Zfp719 |
A |
G |
7: 43,238,677 (GRCm39) |
|
probably null |
Het |
Zkscan16 |
A |
T |
4: 58,956,597 (GRCm39) |
H293L |
possibly damaging |
Het |
Zkscan6 |
A |
C |
11: 65,719,525 (GRCm39) |
N515T |
possibly damaging |
Het |
Znfx1 |
A |
G |
2: 166,897,575 (GRCm39) |
S450P |
probably damaging |
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 |
|
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 |
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'- CCACCATTGATTACCCCAGAGTTGC -3'
(R):5'- AGCCATGCTCAATGTCTGACACC -3'
Sequencing Primer
(F):5'- CAATTGTTCGCTTGCCCATTTTC -3'
(R):5'- caggaggcaaaggcagg -3'
|
Posted On |
2013-06-12 |