Incidental Mutation 'IGL02724:Snx17'
| ID |
305103 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Snx17
|
| Ensembl Gene |
ENSMUSG00000029146 |
| Gene Name |
sorting nexin 17 |
| Synonyms |
D5Ertd260e, 5830447M19Rik, b2b1625.1Clo |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.310)
|
| Stock # |
IGL02724
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
31350634-31356244 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 31354390 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 167
(S167P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144643
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031029]
[ENSMUST00000031562]
[ENSMUST00000077693]
[ENSMUST00000114590]
[ENSMUST00000114603]
[ENSMUST00000166769]
[ENSMUST00000200730]
[ENSMUST00000201535]
[ENSMUST00000202124]
[ENSMUST00000201231]
[ENSMUST00000201679]
[ENSMUST00000201968]
[ENSMUST00000201154]
[ENSMUST00000202929]
[ENSMUST00000202758]
|
| AlphaFold |
Q8BVL3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031029
AA Change: S249P
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000031029
Gene: ENSMUSG00000029146
AA Change: S249P
| 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: ENSMUST00000200730
|
| SMART Domains |
Protein: ENSMUSP00000144504
Gene: ENSMUSG00000029146
| Domain | Start | End | E-Value | Type |
|---|
|
PX
|
1 |
87 |
2.3e-7 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000201535
AA Change: S167P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000144643
Gene: ENSMUSG00000029146
AA Change: S167P
| 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: ENSMUST00000202032
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202318
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200983
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201119
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201078
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200992
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201343
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201835
|
| 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: 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: 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: 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 |
noncoding transcript
Transcript: ENSMUST00000202323
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202743
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202468
|
| 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 |
|
| Coding Region Coverage |
|
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Accs |
T |
G |
2: 93,676,121 (GRCm39) |
K85Q |
probably damaging |
Het |
| Acmsd |
A |
T |
1: 127,676,822 (GRCm39) |
T116S |
possibly damaging |
Het |
| Agrn |
T |
A |
4: 156,257,264 (GRCm39) |
K1189* |
probably null |
Het |
| Alk |
T |
C |
17: 72,292,455 (GRCm39) |
R508G |
probably benign |
Het |
| Arhgap23 |
T |
A |
11: 97,382,005 (GRCm39) |
Y1123N |
probably damaging |
Het |
| Arl6ip5 |
G |
T |
6: 97,209,365 (GRCm39) |
M133I |
probably benign |
Het |
| Axin2 |
G |
A |
11: 108,833,772 (GRCm39) |
G573D |
possibly damaging |
Het |
| B4galt2 |
A |
G |
4: 117,734,075 (GRCm39) |
|
probably null |
Het |
| Baz2b |
G |
T |
2: 59,807,718 (GRCm39) |
D180E |
possibly damaging |
Het |
| Btnl6 |
G |
T |
17: 34,727,149 (GRCm39) |
Y460* |
probably null |
Het |
| Cct7 |
A |
T |
6: 85,436,131 (GRCm39) |
D14V |
probably damaging |
Het |
| Cd55 |
T |
A |
1: 130,377,149 (GRCm39) |
|
probably benign |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cdh2 |
C |
T |
18: 16,762,537 (GRCm39) |
R526Q |
probably benign |
Het |
| Chi3l1 |
A |
C |
1: 134,116,981 (GRCm39) |
E315A |
probably damaging |
Het |
| Cmya5 |
A |
G |
13: 93,233,163 (GRCm39) |
S642P |
probably benign |
Het |
| Cpm |
C |
A |
10: 117,465,756 (GRCm39) |
T43K |
probably damaging |
Het |
| Cracd |
T |
C |
5: 77,006,306 (GRCm39) |
V889A |
unknown |
Het |
| Cyp8b1 |
A |
T |
9: 121,744,453 (GRCm39) |
V293D |
probably benign |
Het |
| Dock1 |
T |
G |
7: 134,765,082 (GRCm39) |
D1691E |
probably benign |
Het |
| Fasn |
T |
C |
11: 120,700,659 (GRCm39) |
D2120G |
probably benign |
Het |
| Gal3st4 |
T |
C |
5: 138,263,679 (GRCm39) |
K440R |
probably benign |
Het |
| Gfpt1 |
A |
T |
6: 87,033,164 (GRCm39) |
K130* |
probably null |
Het |
| Gpr26 |
T |
C |
7: 131,576,121 (GRCm39) |
|
probably null |
Het |
| Htr2a |
A |
T |
14: 74,882,502 (GRCm39) |
I163F |
probably damaging |
Het |
| Ift70a2 |
T |
C |
2: 75,806,682 (GRCm39) |
E610G |
probably benign |
Het |
| Insrr |
A |
G |
3: 87,716,879 (GRCm39) |
D673G |
probably benign |
Het |
| Ipo8 |
G |
T |
6: 148,692,979 (GRCm39) |
C636* |
probably null |
Het |
| Kirrel1 |
C |
A |
3: 86,997,780 (GRCm39) |
E248* |
probably null |
Het |
| Lrp6 |
A |
G |
6: 134,461,228 (GRCm39) |
V743A |
probably damaging |
Het |
| Lrrc45 |
C |
A |
11: 120,609,144 (GRCm39) |
S374R |
probably benign |
Het |
| Map3k9 |
G |
A |
12: 81,771,516 (GRCm39) |
P714S |
probably benign |
Het |
| Mrgprb8 |
T |
A |
7: 48,039,121 (GRCm39) |
L264Q |
possibly damaging |
Het |
| Mroh4 |
C |
A |
15: 74,478,000 (GRCm39) |
W902L |
probably benign |
Het |
| Nfat5 |
T |
A |
8: 108,085,367 (GRCm39) |
D535E |
probably damaging |
Het |
| Nfatc3 |
T |
C |
8: 106,834,817 (GRCm39) |
V713A |
probably benign |
Het |
| Npc1l1 |
C |
T |
11: 6,164,684 (GRCm39) |
V1122M |
possibly damaging |
Het |
| Nsg2 |
A |
G |
11: 32,005,011 (GRCm39) |
|
probably null |
Het |
| Or4c15 |
C |
A |
2: 88,759,792 (GRCm39) |
R289L |
probably damaging |
Het |
| Or8s10 |
T |
A |
15: 98,335,660 (GRCm39) |
F103L |
probably benign |
Het |
| Pax9 |
A |
T |
12: 56,756,604 (GRCm39) |
H314L |
possibly damaging |
Het |
| Phf21a |
A |
T |
2: 92,190,592 (GRCm39) |
I584F |
probably damaging |
Het |
| Pip5k1c |
A |
G |
10: 81,149,296 (GRCm39) |
E536G |
probably benign |
Het |
| Plekhm3 |
A |
G |
1: 64,834,276 (GRCm39) |
S736P |
probably damaging |
Het |
| Ppp3cb |
T |
A |
14: 20,573,645 (GRCm39) |
|
probably null |
Het |
| Prdm9 |
A |
T |
17: 15,783,522 (GRCm39) |
S14R |
probably benign |
Het |
| Proc |
A |
G |
18: 32,267,925 (GRCm39) |
I71T |
probably damaging |
Het |
| Prom2 |
T |
A |
2: 127,380,577 (GRCm39) |
|
probably benign |
Het |
| Psd |
T |
C |
19: 46,307,984 (GRCm39) |
T675A |
probably benign |
Het |
| Rnf215 |
G |
T |
11: 4,090,305 (GRCm39) |
R341L |
probably damaging |
Het |
| Ryr3 |
A |
G |
2: 112,732,921 (GRCm39) |
|
probably null |
Het |
| Sh2d7 |
C |
A |
9: 54,448,105 (GRCm39) |
T42N |
probably benign |
Het |
| Sh3glb2 |
C |
T |
2: 30,236,368 (GRCm39) |
G279D |
probably benign |
Het |
| Slc25a46 |
A |
G |
18: 31,738,868 (GRCm39) |
|
probably benign |
Het |
| Snx19 |
A |
G |
9: 30,343,556 (GRCm39) |
N572S |
possibly damaging |
Het |
| Sptbn4 |
G |
A |
7: 27,067,104 (GRCm39) |
R1937C |
probably damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Srsf11 |
T |
C |
3: 157,722,068 (GRCm39) |
|
probably benign |
Het |
| Taar7b |
A |
T |
10: 23,876,581 (GRCm39) |
M249L |
probably benign |
Het |
| Tle6 |
G |
A |
10: 81,435,898 (GRCm39) |
Q6* |
probably null |
Het |
| Twnk |
G |
T |
19: 44,996,557 (GRCm39) |
R330L |
probably damaging |
Het |
| Unc13a |
C |
A |
8: 72,108,949 (GRCm39) |
|
probably benign |
Het |
| Vmn2r107 |
A |
G |
17: 20,577,006 (GRCm39) |
T335A |
possibly damaging |
Het |
| Wdtc1 |
A |
T |
4: 133,024,789 (GRCm39) |
S469R |
possibly damaging |
Het |
| Ypel1 |
A |
G |
16: 16,921,466 (GRCm39) |
Y73H |
probably benign |
Het |
| Zfp382 |
A |
T |
7: 29,833,162 (GRCm39) |
Y271F |
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 |
|
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation