Incidental Mutation 'IGL02068:Snx18'
ID |
185717 |
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: 0.231)
|
Stock # |
IGL02068
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
113728715-113755100 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 113753601 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Valine
at position 444
(A444V)
|
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: A444V
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000104864 Gene: ENSMUSG00000042364 AA Change: A444V
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: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamdec1 |
T |
A |
14: 68,814,558 (GRCm39) |
I140F |
probably benign |
Het |
Cfap58 |
T |
C |
19: 47,974,951 (GRCm39) |
L704P |
probably damaging |
Het |
Cnnm2 |
T |
C |
19: 46,865,827 (GRCm39) |
V805A |
possibly damaging |
Het |
Dnah9 |
T |
C |
11: 65,951,871 (GRCm39) |
E1876G |
probably damaging |
Het |
Dock1 |
A |
T |
7: 134,373,277 (GRCm39) |
E548V |
probably benign |
Het |
Entrep3 |
C |
T |
3: 89,095,903 (GRCm39) |
R545* |
probably null |
Het |
Esm1 |
T |
G |
13: 113,346,630 (GRCm39) |
F85C |
probably damaging |
Het |
Fcer1a |
C |
T |
1: 173,053,071 (GRCm39) |
G42R |
probably damaging |
Het |
Fcer1g |
A |
T |
1: 171,058,760 (GRCm39) |
Y43N |
probably damaging |
Het |
Grik1 |
G |
T |
16: 87,737,539 (GRCm39) |
T585K |
possibly damaging |
Het |
Hnf4g |
T |
C |
3: 3,709,636 (GRCm39) |
I184T |
probably benign |
Het |
Hsd11b1 |
G |
A |
1: 192,904,354 (GRCm39) |
R282* |
probably null |
Het |
Lig1 |
T |
A |
7: 13,026,377 (GRCm39) |
|
probably benign |
Het |
Or13l2 |
T |
C |
3: 97,318,222 (GRCm39) |
K92E |
possibly damaging |
Het |
Phip |
A |
G |
9: 82,827,861 (GRCm39) |
S184P |
probably damaging |
Het |
Pkhd1 |
C |
T |
1: 20,592,971 (GRCm39) |
G1714D |
probably damaging |
Het |
Plppr4 |
A |
G |
3: 117,125,433 (GRCm39) |
|
probably benign |
Het |
Prdm10 |
G |
A |
9: 31,248,646 (GRCm39) |
R356Q |
probably damaging |
Het |
Rasgrp1 |
C |
T |
2: 117,131,059 (GRCm39) |
|
probably benign |
Het |
Rpap1 |
C |
T |
2: 119,613,135 (GRCm39) |
E138K |
probably benign |
Het |
Sidt2 |
A |
C |
9: 45,856,962 (GRCm39) |
|
probably null |
Het |
Slc28a3 |
A |
G |
13: 58,706,411 (GRCm39) |
L610P |
probably damaging |
Het |
Slc39a10 |
T |
C |
1: 46,858,599 (GRCm39) |
|
probably benign |
Het |
Svil |
A |
G |
18: 5,092,899 (GRCm39) |
E1459G |
probably damaging |
Het |
Tbc1d9 |
T |
C |
8: 83,966,497 (GRCm39) |
L366P |
probably damaging |
Het |
Tbk1 |
A |
T |
10: 121,406,694 (GRCm39) |
H181Q |
probably damaging |
Het |
Wrn |
C |
A |
8: 33,800,777 (GRCm39) |
G612V |
probably benign |
Het |
Xdh |
A |
G |
17: 74,220,945 (GRCm39) |
Y595H |
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 |
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 |
2014-05-07 |