Incidental Mutation 'R2958:Snx18'
| ID |
263271 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Snx18
|
| Ensembl Gene |
ENSMUSG00000042364 |
| Gene Name |
sorting nexin 18 |
| Synonyms |
Snag1 |
| MMRRC Submission |
040519-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.231)
|
| Stock # |
R2958 (G1)
|
| Quality Score |
225 |
|
Status
|
Not 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: 95.1%
|
| 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: 14 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankhd1 |
T |
A |
18: 36,767,782 (GRCm39) |
L1233Q |
probably damaging |
Het |
| Cdk5rap2 |
ATGTG |
ATG |
4: 70,208,214 (GRCm39) |
|
probably null |
Het |
| Cep78 |
C |
A |
19: 15,956,273 (GRCm39) |
R222L |
probably damaging |
Het |
| Eml5 |
T |
C |
12: 98,842,437 (GRCm39) |
I220M |
possibly damaging |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Lhx5 |
A |
G |
5: 120,573,542 (GRCm39) |
N175S |
probably benign |
Het |
| Nrg3 |
G |
T |
14: 39,194,669 (GRCm39) |
A30E |
unknown |
Het |
| Numa1 |
C |
A |
7: 101,658,702 (GRCm39) |
R1663S |
possibly damaging |
Het |
| Nwd2 |
G |
A |
5: 63,963,325 (GRCm39) |
V970I |
probably benign |
Het |
| Or51ah3 |
T |
C |
7: 103,210,512 (GRCm39) |
V276A |
possibly damaging |
Het |
| Tdrd9 |
T |
C |
12: 112,008,106 (GRCm39) |
V982A |
probably damaging |
Het |
| Tex11 |
C |
A |
X: 99,977,021 (GRCm39) |
A487S |
possibly damaging |
Het |
| Tor4a |
G |
T |
2: 25,084,980 (GRCm39) |
Q308K |
possibly damaging |
Het |
| Zfr |
G |
A |
15: 12,162,319 (GRCm39) |
R823H |
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAAACCCGGCAGTGGTATG -3'
(R):5'- TCACCAAGAAGATGGACGAC -3'
Sequencing Primer
(F):5'- AGTGGTATGCCTATCCAAGTCAC -3'
(R):5'- ATGGACGACAGTGCGTTGC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation