Incidental Mutation 'IGL01756:Snx18'
ID |
153445 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Snx18
|
Ensembl Gene |
ENSMUSG00000042364 |
Gene Name |
sorting nexin 18 |
Synonyms |
Snag1 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.197)
|
Stock # |
IGL01756
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
113728715-113755100 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 113754052 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 294
(T294S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104864
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109241]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000109241
AA Change: T294S
PolyPhen 2
Score 0.132 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000104864 Gene: ENSMUSG00000042364 AA Change: T294S
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223993
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224883
|
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 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: 21 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atrnl1 |
A |
G |
19: 57,641,380 (GRCm39) |
N343D |
probably benign |
Het |
Birc6 |
T |
C |
17: 74,947,203 (GRCm39) |
V2974A |
probably benign |
Het |
Cngb3 |
A |
C |
4: 19,367,850 (GRCm39) |
D253A |
probably damaging |
Het |
Cog4 |
A |
T |
8: 111,580,391 (GRCm39) |
K154* |
probably null |
Het |
Col6a3 |
T |
A |
1: 90,706,884 (GRCm39) |
E2076D |
unknown |
Het |
Cox7a2 |
T |
G |
9: 79,665,837 (GRCm39) |
T15P |
probably benign |
Het |
Cyp4f39 |
T |
A |
17: 32,702,415 (GRCm39) |
L304* |
probably null |
Het |
Gucy2e |
A |
T |
11: 69,123,678 (GRCm39) |
L407Q |
probably damaging |
Het |
Hectd4 |
T |
C |
5: 121,482,887 (GRCm39) |
I3146T |
probably benign |
Het |
Hipk4 |
T |
A |
7: 27,227,968 (GRCm39) |
L238* |
probably null |
Het |
Igf2r |
C |
T |
17: 12,902,709 (GRCm39) |
R2447Q |
probably benign |
Het |
Itgb4 |
G |
A |
11: 115,879,752 (GRCm39) |
V635I |
probably damaging |
Het |
Klkb1 |
T |
A |
8: 45,725,361 (GRCm39) |
K526M |
probably damaging |
Het |
Ninl |
T |
C |
2: 150,821,436 (GRCm39) |
E66G |
probably damaging |
Het |
Pde8b |
A |
G |
13: 95,182,895 (GRCm39) |
S288P |
probably damaging |
Het |
Rigi |
A |
T |
4: 40,209,934 (GRCm39) |
N666K |
probably damaging |
Het |
Sar1a |
T |
A |
10: 61,522,235 (GRCm39) |
M109K |
probably benign |
Het |
Srek1 |
C |
T |
13: 103,897,090 (GRCm39) |
D84N |
probably damaging |
Het |
Trem1 |
G |
A |
17: 48,544,141 (GRCm39) |
W55* |
probably null |
Het |
Tsnaxip1 |
A |
T |
8: 106,569,420 (GRCm39) |
|
probably benign |
Het |
Vmn2r43 |
A |
G |
7: 8,258,583 (GRCm39) |
L210S |
probably benign |
Het |
|
Other mutations in Snx18 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
R8092:Snx18
|
UTSW |
13 |
113,753,685 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
Posted On |
2014-02-04 |