Incidental Mutation 'R3011:Snx18'
| ID |
257515 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Snx18
|
| Ensembl Gene |
ENSMUSG00000042364 |
| Gene Name |
sorting nexin 18 |
| Synonyms |
Snag1 |
| MMRRC Submission |
040533-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.231)
|
| Stock # |
R3011 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
113728715-113755100 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 113753422 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 504
(Q504*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104864
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109241]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000109241
AA Change: Q504*
|
| SMART Domains |
Protein: ENSMUSP00000104864
Gene: ENSMUSG00000042364
AA Change: Q504*
| 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
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
100% (29/29) |
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap31 |
A |
C |
16: 38,422,269 (GRCm39) |
C1266G |
possibly damaging |
Het |
| Brme1 |
C |
A |
8: 84,893,539 (GRCm39) |
Y235* |
probably null |
Het |
| Cers5 |
A |
G |
15: 99,670,598 (GRCm39) |
|
probably benign |
Het |
| Clasp2 |
C |
T |
9: 113,730,581 (GRCm39) |
T905M |
probably damaging |
Het |
| Clec16a |
A |
G |
16: 10,428,975 (GRCm39) |
N469S |
probably benign |
Het |
| Commd3 |
T |
A |
2: 18,679,499 (GRCm39) |
V128D |
probably damaging |
Het |
| Cped1 |
A |
G |
6: 22,088,695 (GRCm39) |
T253A |
probably damaging |
Het |
| Dnajc5b |
A |
T |
3: 19,600,966 (GRCm39) |
Y21F |
probably damaging |
Het |
| Fhip2a |
T |
A |
19: 57,373,720 (GRCm39) |
L660Q |
probably damaging |
Het |
| Gm14403 |
A |
G |
2: 177,200,786 (GRCm39) |
D244G |
probably benign |
Het |
| Gm5414 |
T |
C |
15: 101,534,047 (GRCm39) |
D312G |
probably damaging |
Het |
| Ifi204 |
T |
C |
1: 173,579,217 (GRCm39) |
S543G |
probably benign |
Het |
| Itga11 |
T |
A |
9: 62,604,262 (GRCm39) |
I50N |
probably damaging |
Het |
| Lct |
C |
T |
1: 128,229,109 (GRCm39) |
V795I |
possibly damaging |
Het |
| Lrrc37 |
T |
A |
11: 103,503,929 (GRCm39) |
T504S |
possibly damaging |
Het |
| Map2 |
A |
G |
1: 66,453,771 (GRCm39) |
D887G |
probably damaging |
Het |
| Mgat4e |
T |
A |
1: 134,469,846 (GRCm39) |
D66V |
possibly damaging |
Het |
| Nqo1 |
C |
T |
8: 108,115,743 (GRCm39) |
R178H |
probably benign |
Het |
| Or13e8 |
G |
T |
4: 43,696,624 (GRCm39) |
A183E |
probably damaging |
Het |
| Or5h22 |
A |
G |
16: 58,895,350 (GRCm39) |
V31A |
probably benign |
Het |
| Otof |
G |
A |
5: 30,540,184 (GRCm39) |
A999V |
probably damaging |
Het |
| Phf20 |
A |
G |
2: 156,129,946 (GRCm39) |
D506G |
probably benign |
Het |
| Pth2r |
C |
T |
1: 65,376,147 (GRCm39) |
H97Y |
probably benign |
Het |
| Sppl2c |
C |
T |
11: 104,078,141 (GRCm39) |
P314S |
probably benign |
Het |
| Srgap2 |
T |
A |
1: 131,238,329 (GRCm39) |
Q520L |
probably damaging |
Het |
| Tex11 |
C |
A |
X: 99,977,021 (GRCm39) |
A487S |
possibly damaging |
Het |
| Tlr4 |
A |
T |
4: 66,757,491 (GRCm39) |
K95* |
probably null |
Het |
| Tmem59l |
A |
T |
8: 70,938,887 (GRCm39) |
C96S |
probably damaging |
Het |
| Tmtc3 |
G |
T |
10: 100,283,444 (GRCm39) |
P704T |
possibly damaging |
Het |
| Upp2 |
T |
C |
2: 58,680,107 (GRCm39) |
V293A |
probably damaging |
Het |
| Vps72 |
A |
G |
3: 95,026,585 (GRCm39) |
K177E |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAAACCCGGCAGTGGTATG -3'
(R):5'- AGATGGACGACAGTGCGTTG -3'
Sequencing Primer
(F):5'- AGTGGTATGCCTATCCAAGTCAC -3'
(R):5'- CAACGAGTTTGCGCGCAAG -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation