Incidental Mutation 'R0654:Snx15'
| ID |
62449 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Snx15
|
| Ensembl Gene |
ENSMUSG00000024787 |
| Gene Name |
sorting nexin 15 |
| Synonyms |
E130013C21Rik, 1500032B08Rik |
| MMRRC Submission |
038839-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0654 (G1)
|
| Quality Score |
137 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
6169429-6178334 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 6171915 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 140
(I140V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025702
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025702]
[ENSMUST00000113533]
[ENSMUST00000138931]
[ENSMUST00000154601]
|
| AlphaFold |
Q91WE1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025702
AA Change: I140V
PolyPhen 2
Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000025702
Gene: ENSMUSG00000024787
AA Change: I140V
| 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: 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 |
noncoding transcript
Transcript: ENSMUST00000150718
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154601
AA Change: I140V
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000122740
Gene: ENSMUSG00000024787
AA Change: I140V
| 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 |
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.0%
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asb13 |
A |
C |
13: 3,692,092 (GRCm39) |
H24P |
probably damaging |
Het |
| Avpr1b |
T |
A |
1: 131,527,480 (GRCm39) |
M1K |
probably null |
Het |
| Baz1a |
T |
C |
12: 54,958,182 (GRCm39) |
E1023G |
probably benign |
Het |
| Bpifb5 |
A |
G |
2: 154,070,820 (GRCm39) |
T204A |
probably benign |
Het |
| Cfap157 |
C |
T |
2: 32,669,954 (GRCm39) |
V210M |
probably damaging |
Het |
| Clock |
A |
G |
5: 76,374,976 (GRCm39) |
V731A |
possibly damaging |
Het |
| Cntn6 |
C |
T |
6: 104,753,389 (GRCm39) |
T447I |
probably benign |
Het |
| Dchs1 |
A |
G |
7: 105,421,556 (GRCm39) |
I288T |
probably damaging |
Het |
| Far2 |
T |
C |
6: 148,076,639 (GRCm39) |
F494S |
possibly damaging |
Het |
| Fibin |
T |
A |
2: 110,192,962 (GRCm39) |
D60V |
probably damaging |
Het |
| Fnd3c2 |
G |
A |
X: 105,290,760 (GRCm39) |
T302I |
possibly damaging |
Het |
| Foxp3 |
A |
G |
X: 7,457,639 (GRCm39) |
I281V |
probably benign |
Het |
| Fryl |
A |
G |
5: 73,240,715 (GRCm39) |
I1295T |
probably benign |
Het |
| Gpr82 |
T |
C |
X: 13,531,829 (GRCm39) |
S126P |
probably benign |
Het |
| Gria4 |
T |
A |
9: 4,464,372 (GRCm39) |
Q530L |
probably benign |
Het |
| Hivep1 |
A |
C |
13: 42,313,232 (GRCm39) |
D1824A |
probably benign |
Het |
| Kif13a |
A |
G |
13: 46,966,218 (GRCm39) |
V400A |
possibly damaging |
Het |
| Map3k21 |
C |
A |
8: 126,668,759 (GRCm39) |
L782I |
probably benign |
Het |
| Nphs2 |
A |
C |
1: 156,146,317 (GRCm39) |
T98P |
probably damaging |
Het |
| Pdss2 |
CGGAG |
CG |
10: 43,097,927 (GRCm39) |
|
probably benign |
Het |
| Pkd2l1 |
A |
G |
19: 44,146,070 (GRCm39) |
|
probably null |
Het |
| Rbm28 |
A |
T |
6: 29,128,577 (GRCm39) |
S48R |
probably damaging |
Het |
| Rimkla |
C |
T |
4: 119,335,177 (GRCm39) |
V69M |
probably damaging |
Het |
| Scg3 |
T |
A |
9: 75,573,017 (GRCm39) |
I305F |
probably damaging |
Het |
| Slc22a1 |
T |
A |
17: 12,881,679 (GRCm39) |
N310I |
probably damaging |
Het |
| Slc26a9 |
T |
C |
1: 131,692,768 (GRCm39) |
V700A |
probably benign |
Het |
| Spryd3 |
C |
T |
15: 102,036,969 (GRCm39) |
|
probably null |
Het |
| Srebf1 |
T |
C |
11: 60,094,942 (GRCm39) |
T486A |
probably benign |
Het |
| Syne2 |
AGAGTGAG |
AGAGTGAGTGAG |
12: 76,144,734 (GRCm39) |
|
probably null |
Het |
| Tbl1xr1 |
T |
A |
3: 22,258,158 (GRCm39) |
|
probably null |
Het |
| Tmcc1 |
A |
T |
6: 116,019,951 (GRCm39) |
H281Q |
probably benign |
Het |
| Ttc39b |
T |
A |
4: 83,159,938 (GRCm39) |
M413L |
probably benign |
Het |
| Vmn2r101 |
C |
A |
17: 19,810,373 (GRCm39) |
H386Q |
probably benign |
Het |
| Zbtb47 |
T |
C |
9: 121,592,327 (GRCm39) |
F251L |
probably benign |
Het |
|
| Other mutations in Snx15 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01292:Snx15
|
APN |
19 |
6,169,915 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCGAAAAGGGCAAGTTCAGCCTCAG -3'
(R):5'- TTTGAAGCCTCTGTGATCGAGGAGCG -3'
Sequencing Primer
(F):5'- tctgataggtgagcaaactgag -3'
(R):5'- GACCTGCTGCGCTTCAC -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation