Incidental Mutation 'R8092:Snx18'
| ID |
629952 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Snx18
|
| Ensembl Gene |
ENSMUSG00000042364 |
| Gene Name |
sorting nexin 18 |
| Synonyms |
Snag1 |
| MMRRC Submission |
067524-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.197)
|
| Stock # |
R8092 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
113728715-113755100 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 113753685 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 416
(E416G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104864
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109241]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109241
AA Change: E416G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000104864
Gene: ENSMUSG00000042364
AA Change: E416G
| Domain | Start | End | E-Value | Type |
|---|
|
SH3
|
3 |
60 |
1.04e-14 |
SMART |
|
low complexity region
|
61 |
76 |
N/A |
INTRINSIC |
|
low complexity region
|
82 |
105 |
N/A |
INTRINSIC |
|
low complexity region
|
112 |
123 |
N/A |
INTRINSIC |
|
low complexity region
|
141 |
153 |
N/A |
INTRINSIC |
|
low complexity region
|
172 |
182 |
N/A |
INTRINSIC |
|
PX
|
264 |
373 |
8.75e-22 |
SMART |
|
Pfam:BAR_3_WASP_bdg
|
377 |
613 |
7.1e-111 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 99.2%
- 20x: 97.5%
|
| Validation Efficiency |
100% (40/40) |
| 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 SH3 domain. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adck1 |
T |
C |
12: 88,427,831 (GRCm39) |
S483P |
possibly damaging |
Het |
| Agr3 |
T |
A |
12: 35,997,593 (GRCm39) |
|
probably null |
Het |
| Anxa4 |
T |
C |
6: 86,718,873 (GRCm39) |
D282G |
probably damaging |
Het |
| Aplp2 |
A |
C |
9: 31,074,640 (GRCm39) |
|
probably null |
Het |
| Arfgef2 |
G |
A |
2: 166,701,754 (GRCm39) |
V714M |
probably damaging |
Het |
| Cep295 |
A |
T |
9: 15,244,278 (GRCm39) |
F1393I |
probably benign |
Het |
| Cfap206 |
G |
A |
4: 34,728,897 (GRCm39) |
P3S |
possibly damaging |
Het |
| Chd5 |
T |
A |
4: 152,463,261 (GRCm39) |
D1410E |
probably damaging |
Het |
| Chd8 |
T |
C |
14: 52,455,184 (GRCm39) |
Y1101C |
probably damaging |
Het |
| Chtf8 |
A |
G |
8: 107,612,938 (GRCm39) |
V121A |
possibly damaging |
Het |
| Dnajc3 |
A |
T |
14: 119,207,994 (GRCm39) |
|
probably null |
Het |
| Dpys |
C |
T |
15: 39,710,010 (GRCm39) |
D140N |
probably benign |
Het |
| Dsg1c |
A |
G |
18: 20,415,029 (GRCm39) |
Y642C |
probably damaging |
Het |
| Eif2ak4 |
G |
A |
2: 118,272,513 (GRCm39) |
V901I |
probably damaging |
Het |
| Gm45861 |
T |
C |
8: 28,057,823 (GRCm39) |
M1127T |
unknown |
Het |
| Gnpnat1 |
A |
G |
14: 45,618,388 (GRCm39) |
|
probably null |
Het |
| Hsd3b6 |
T |
A |
3: 98,713,456 (GRCm39) |
D281V |
possibly damaging |
Het |
| Kng2 |
T |
A |
16: 22,806,672 (GRCm39) |
Q509L |
probably benign |
Het |
| Lipo2 |
A |
T |
19: 33,726,880 (GRCm39) |
D52E |
probably benign |
Het |
| Ly6g6c |
A |
G |
17: 35,287,867 (GRCm39) |
Y27C |
probably damaging |
Het |
| Mcc |
G |
A |
18: 44,892,299 (GRCm39) |
T105I |
probably benign |
Het |
| Neurl4 |
A |
G |
11: 69,801,891 (GRCm39) |
K1279E |
probably benign |
Het |
| Ntmt2 |
A |
G |
1: 163,544,819 (GRCm39) |
Y55H |
probably damaging |
Het |
| Ntn4 |
A |
C |
10: 93,576,918 (GRCm39) |
K529Q |
probably damaging |
Het |
| Or4f57 |
C |
A |
2: 111,790,652 (GRCm39) |
M255I |
probably benign |
Het |
| P2ry14 |
C |
T |
3: 59,022,867 (GRCm39) |
V198M |
probably damaging |
Het |
| Pclo |
T |
A |
5: 14,727,560 (GRCm39) |
D2139E |
unknown |
Het |
| Plxnb1 |
T |
A |
9: 108,929,573 (GRCm39) |
V143E |
probably damaging |
Het |
| Prune2 |
G |
T |
19: 17,097,357 (GRCm39) |
D954Y |
probably damaging |
Het |
| Qrsl1 |
G |
A |
10: 43,760,749 (GRCm39) |
P278L |
probably damaging |
Het |
| Rnf17 |
C |
T |
14: 56,724,479 (GRCm39) |
R1108C |
probably benign |
Het |
| Sipa1l2 |
T |
C |
8: 126,145,907 (GRCm39) |
S1716G |
probably benign |
Het |
| Slfn4 |
A |
T |
11: 83,079,831 (GRCm39) |
H507L |
probably benign |
Het |
| Srp9 |
T |
C |
1: 181,959,001 (GRCm39) |
V81A |
probably benign |
Het |
| Tex101 |
G |
A |
7: 24,369,778 (GRCm39) |
T62M |
probably damaging |
Het |
| Utp25 |
G |
A |
1: 192,802,671 (GRCm39) |
L349F |
probably benign |
Het |
| Wdfy4 |
G |
A |
14: 32,826,072 (GRCm39) |
P1193L |
|
Het |
| Zbtb42 |
G |
T |
12: 112,646,275 (GRCm39) |
C150F |
probably damaging |
Het |
|
| Other mutations in Snx18 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01756:Snx18
|
APN |
13 |
113,754,052 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL02068:Snx18
|
APN |
13 |
113,753,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02195:Snx18
|
APN |
13 |
113,753,376 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02541:Snx18
|
APN |
13 |
113,731,302 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2419:Snx18
|
UTSW |
13 |
113,753,755 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R2958:Snx18
|
UTSW |
13 |
113,753,422 (GRCm39) |
nonsense |
probably null |
|
|
R3010:Snx18
|
UTSW |
13 |
113,753,422 (GRCm39) |
nonsense |
probably null |
|
|
R3011:Snx18
|
UTSW |
13 |
113,753,422 (GRCm39) |
nonsense |
probably null |
|
|
R4461:Snx18
|
UTSW |
13 |
113,753,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4557:Snx18
|
UTSW |
13 |
113,754,364 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4732:Snx18
|
UTSW |
13 |
113,754,310 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4733:Snx18
|
UTSW |
13 |
113,754,310 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5308:Snx18
|
UTSW |
13 |
113,753,383 (GRCm39) |
nonsense |
probably null |
|
|
R6157:Snx18
|
UTSW |
13 |
113,753,725 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6995:Snx18
|
UTSW |
13 |
113,731,265 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8253:Snx18
|
UTSW |
13 |
113,731,317 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8924:Snx18
|
UTSW |
13 |
113,754,931 (GRCm39) |
start codon destroyed |
probably benign |
0.30 |
|
R9098:Snx18
|
UTSW |
13 |
113,754,310 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9363:Snx18
|
UTSW |
13 |
113,754,732 (GRCm39) |
missense |
probably benign |
0.25 |
|
R9547:Snx18
|
UTSW |
13 |
113,753,754 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9776:Snx18
|
UTSW |
13 |
113,754,039 (GRCm39) |
missense |
probably benign |
0.18 |
|
Z1177:Snx18
|
UTSW |
13 |
113,754,681 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCCAGCTCAAAGGCTTGGC -3'
(R):5'- TTCATCTCCAAACGCAGGAAGG -3'
Sequencing Primer
(F):5'- TCAAAGGCTTGGCTGAGACC -3'
(R):5'- TGGATGAACCACATGGCC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation