Incidental Mutation 'R3010:Snx18'
| ID |
257481 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R3010 (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: 97.2%
- 20x: 94.7%
|
| 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: 16 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Armc8 |
T |
C |
9: 99,369,966 (GRCm39) |
E591G |
probably benign |
Het |
| Cers5 |
A |
G |
15: 99,670,598 (GRCm39) |
|
probably benign |
Het |
| Cgrrf1 |
T |
C |
14: 47,091,223 (GRCm39) |
V249A |
probably benign |
Het |
| Kctd1 |
T |
C |
18: 15,107,143 (GRCm39) |
E178G |
probably damaging |
Het |
| Mpp7 |
G |
A |
18: 7,461,678 (GRCm39) |
P65L |
possibly damaging |
Het |
| Mx2 |
T |
C |
16: 97,347,999 (GRCm39) |
V208A |
possibly damaging |
Het |
| Pacs2 |
T |
C |
12: 113,024,700 (GRCm39) |
S427P |
probably benign |
Het |
| Pdzrn4 |
A |
G |
15: 92,667,692 (GRCm39) |
I615V |
probably benign |
Het |
| Ptpn1 |
C |
A |
2: 167,816,742 (GRCm39) |
Q266K |
probably damaging |
Het |
| Sppl2c |
C |
T |
11: 104,078,141 (GRCm39) |
P314S |
probably benign |
Het |
| Tbx15 |
A |
G |
3: 99,161,209 (GRCm39) |
|
probably benign |
Het |
| Tdrd6 |
G |
A |
17: 43,938,933 (GRCm39) |
T705I |
probably benign |
Het |
| Tex11 |
C |
A |
X: 99,977,021 (GRCm39) |
A487S |
possibly damaging |
Het |
| Vmn2r113 |
T |
C |
17: 23,177,105 (GRCm39) |
S630P |
probably damaging |
Het |
| Zdbf2 |
T |
A |
1: 63,342,224 (GRCm39) |
V201D |
possibly damaging |
Het |
| Zer1 |
A |
G |
2: 30,003,297 (GRCm39) |
I40T |
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 |
|
R2958: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'- TCCACTGAACACTCGGAAAG -3'
(R):5'- GGTGACTGGCTTCAAGAAGG -3'
Sequencing Primer
(F):5'- GAGAACCACCAGGAGCCTG -3'
(R):5'- TGACTGGCTTCAAGAAGGAGTATC -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation