Incidental Mutation 'IGL01292:Snx15'
| ID |
72945 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Snx15
|
| Ensembl Gene |
ENSMUSG00000024787 |
| Gene Name |
sorting nexin 15 |
| Synonyms |
E130013C21Rik, 1500032B08Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01292
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
6169429-6178334 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 6169915 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 331
(M331K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025702
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025702]
[ENSMUST00000044451]
[ENSMUST00000113533]
[ENSMUST00000138931]
[ENSMUST00000154601]
|
| AlphaFold |
Q91WE1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025702
AA Change: M331K
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000025702
Gene: ENSMUSG00000024787
AA Change: M331K
| Domain | Start | End | E-Value | Type |
|---|
|
PX
|
8 |
126 |
1.78e-22 |
SMART |
|
low complexity region
|
140 |
151 |
N/A |
INTRINSIC |
|
MIT
|
265 |
337 |
7.77e-20 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044451
|
| SMART Domains |
Protein: ENSMUSP00000044231
Gene: ENSMUSG00000054999
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
low complexity region
|
32 |
47 |
N/A |
INTRINSIC |
|
Pfam:PA
|
163 |
256 |
3e-12 |
PFAM |
|
Pfam:Peptidase_M28
|
353 |
564 |
1.3e-22 |
PFAM |
|
low complexity region
|
579 |
592 |
N/A |
INTRINSIC |
|
Pfam:TFR_dimer
|
621 |
740 |
4.5e-27 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113533
|
| SMART Domains |
Protein: ENSMUSP00000109161
Gene: ENSMUSG00000024790
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
32 |
N/A |
INTRINSIC |
|
low complexity region
|
89 |
100 |
N/A |
INTRINSIC |
|
Pfam:SAC3_GANP
|
134 |
356 |
7.6e-50 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124171
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124964
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129076
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138931
|
| SMART Domains |
Protein: ENSMUSP00000114189
Gene: ENSMUSG00000024787
| Domain | Start | End | E-Value | Type |
|---|
|
PX
|
8 |
112 |
1.69e-14 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154601
AA Change: M245K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000122740
Gene: ENSMUSG00000024787
AA Change: M245K
| Domain | Start | End | E-Value | Type |
|---|
|
PX
|
8 |
126 |
1.78e-22 |
SMART |
|
low complexity region
|
140 |
151 |
N/A |
INTRINSIC |
|
Blast:MIT
|
222 |
251 |
4e-12 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150718
|
| 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. Overexpression of this gene results in a decrease in the processing of insulin and hepatocyte growth factor receptors to their mature subunits. This decrease is caused by the mislocalization of furin, the endoprotease responsible for cleavage of insulin and hepatocyte growth factor receptors. This protein is involved in endosomal trafficking from the plasma membrane to recycling endosomes or the trans-Golgi network. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the upstream ADP-ribosylation factor-like 2 (ARL2) gene. [provided by RefSeq, Dec 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
T |
C |
14: 32,382,831 (GRCm39) |
S1045G |
probably benign |
Het |
| Aak1 |
T |
C |
6: 86,926,520 (GRCm39) |
|
probably benign |
Het |
| Car15 |
A |
G |
16: 17,653,393 (GRCm39) |
F258S |
probably damaging |
Het |
| Cpd |
A |
G |
11: 76,737,071 (GRCm39) |
I241T |
possibly damaging |
Het |
| Dchs1 |
T |
C |
7: 105,410,098 (GRCm39) |
D1758G |
probably damaging |
Het |
| Dnaaf11 |
A |
T |
15: 66,353,082 (GRCm39) |
|
probably benign |
Het |
| Eogt |
T |
A |
6: 97,120,988 (GRCm39) |
N75I |
possibly damaging |
Het |
| Eps8l1 |
T |
C |
7: 4,481,919 (GRCm39) |
|
probably benign |
Het |
| Gdpd4 |
T |
C |
7: 97,664,161 (GRCm39) |
|
probably benign |
Het |
| Igbp1b |
C |
T |
6: 138,634,533 (GRCm39) |
E304K |
probably benign |
Het |
| Ighv1-63 |
A |
G |
12: 115,459,478 (GRCm39) |
S40P |
probably damaging |
Het |
| Intu |
T |
C |
3: 40,618,696 (GRCm39) |
V234A |
probably benign |
Het |
| Mars1 |
A |
T |
10: 127,141,387 (GRCm39) |
I334N |
probably damaging |
Het |
| Morc2a |
C |
A |
11: 3,638,175 (GRCm39) |
A967D |
probably damaging |
Het |
| Mtrf1l |
A |
T |
10: 5,764,090 (GRCm39) |
M291K |
probably benign |
Het |
| Muc19 |
A |
G |
15: 91,778,470 (GRCm39) |
|
noncoding transcript |
Het |
| Myl3 |
A |
T |
9: 110,597,045 (GRCm39) |
D135V |
probably damaging |
Het |
| Myt1 |
T |
A |
2: 181,446,805 (GRCm39) |
L537M |
probably damaging |
Het |
| Ndst4 |
A |
G |
3: 125,232,403 (GRCm39) |
D324G |
probably damaging |
Het |
| Plce1 |
T |
A |
19: 38,640,229 (GRCm39) |
|
probably benign |
Het |
| Prkab1 |
A |
T |
5: 116,162,169 (GRCm39) |
F47Y |
probably damaging |
Het |
| Prkag2 |
C |
T |
5: 25,226,963 (GRCm39) |
S98N |
probably benign |
Het |
| Rasgef1a |
T |
A |
6: 118,057,344 (GRCm39) |
V15D |
possibly damaging |
Het |
| Scgb1b19 |
T |
A |
7: 32,987,051 (GRCm39) |
C67* |
probably null |
Het |
| Slc25a15 |
T |
C |
8: 22,880,052 (GRCm39) |
D31G |
possibly damaging |
Het |
| Slc4a11 |
C |
T |
2: 130,532,752 (GRCm39) |
|
probably null |
Het |
| Tsks |
T |
C |
7: 44,601,982 (GRCm39) |
Y224H |
probably damaging |
Het |
| Ufd1 |
T |
C |
16: 18,639,864 (GRCm39) |
S123P |
probably damaging |
Het |
| Xpnpep3 |
T |
G |
15: 81,311,699 (GRCm39) |
V135G |
probably damaging |
Het |
|
| Other mutations in Snx15 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02102:Snx15
|
APN |
19 |
6,172,104 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
PIT4418001:Snx15
|
UTSW |
19 |
6,173,961 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0079:Snx15
|
UTSW |
19 |
6,173,943 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0654:Snx15
|
UTSW |
19 |
6,171,915 (GRCm39) |
missense |
probably benign |
0.33 |
|
R1499:Snx15
|
UTSW |
19 |
6,172,094 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1943:Snx15
|
UTSW |
19 |
6,178,096 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2991:Snx15
|
UTSW |
19 |
6,171,515 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3769:Snx15
|
UTSW |
19 |
6,173,984 (GRCm39) |
splice site |
probably benign |
|
|
R5117:Snx15
|
UTSW |
19 |
6,174,181 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5763:Snx15
|
UTSW |
19 |
6,172,140 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6219:Snx15
|
UTSW |
19 |
6,171,538 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7024:Snx15
|
UTSW |
19 |
6,170,626 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7297:Snx15
|
UTSW |
19 |
6,170,537 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8139:Snx15
|
UTSW |
19 |
6,169,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8139:Snx15
|
UTSW |
19 |
6,169,945 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8750:Snx15
|
UTSW |
19 |
6,170,593 (GRCm39) |
missense |
probably benign |
0.34 |
|
Z1088:Snx15
|
UTSW |
19 |
6,171,441 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Posted On |
2013-10-07 |
Incidental Mutation