Incidental Mutation 'R5693:Snx16'
| ID |
443756 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Snx16
|
| Ensembl Gene |
ENSMUSG00000027534 |
| Gene Name |
sorting nexin 16 |
| Synonyms |
4930522N22Rik |
| MMRRC Submission |
043180-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
R5693 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
10482877-10505162 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 10485318 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 293
(I293V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029047
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029047]
[ENSMUST00000099223]
[ENSMUST00000191826]
[ENSMUST00000195822]
|
| AlphaFold |
Q8C080 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029047
AA Change: I293V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000029047
Gene: ENSMUSG00000027534
AA Change: I293V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
27 |
40 |
N/A |
INTRINSIC |
|
PX
|
110 |
214 |
1.65e-17 |
SMART |
|
coiled coil region
|
230 |
272 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099223
|
| SMART Domains |
Protein: ENSMUSP00000096828
Gene: ENSMUSG00000027534
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
27 |
40 |
N/A |
INTRINSIC |
|
PX
|
110 |
214 |
1.65e-17 |
SMART |
|
coiled coil region
|
230 |
274 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000191826
|
| SMART Domains |
Protein: ENSMUSP00000141606
Gene: ENSMUSG00000027536
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
28 |
N/A |
INTRINSIC |
|
PDB:4ABM|D
|
29 |
64 |
3e-10 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195822
|
| SMART Domains |
Protein: ENSMUSP00000141230
Gene: ENSMUSG00000027534
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
27 |
40 |
N/A |
INTRINSIC |
|
Blast:PX
|
105 |
134 |
2e-6 |
BLAST |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| 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. The protein encoded by this gene associates with late endosome membranes as is involved in tubule formation, cholesterol transport, and transport of tetraspanin CD81. The encoded protein also inhibits cell migration and tumorigenesis. [provided by RefSeq, Jan 2017]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,266,233 (GRCm39) |
I3071V |
probably benign |
Het |
| Abcb8 |
C |
T |
5: 24,605,137 (GRCm39) |
R108C |
possibly damaging |
Het |
| Abr |
T |
C |
11: 76,354,403 (GRCm39) |
N236S |
probably damaging |
Het |
| Adcy6 |
T |
C |
15: 98,501,870 (GRCm39) |
Y248C |
probably damaging |
Het |
| Armc8 |
A |
G |
9: 99,378,202 (GRCm39) |
|
probably null |
Het |
| Chd6 |
A |
T |
2: 160,807,185 (GRCm39) |
S2010T |
probably benign |
Het |
| Dcc |
G |
A |
18: 71,708,153 (GRCm39) |
T521I |
probably damaging |
Het |
| Dmrtb1 |
G |
A |
4: 107,541,366 (GRCm39) |
|
probably benign |
Het |
| Evc |
A |
G |
5: 37,477,584 (GRCm39) |
V365A |
possibly damaging |
Het |
| Gata4 |
A |
G |
14: 63,478,594 (GRCm39) |
Y2H |
probably damaging |
Het |
| Gpc1 |
A |
G |
1: 92,785,621 (GRCm39) |
N437S |
probably damaging |
Het |
| Lifr |
T |
C |
15: 7,205,041 (GRCm39) |
V426A |
probably damaging |
Het |
| Lpin3 |
A |
G |
2: 160,737,320 (GRCm39) |
I122M |
probably benign |
Het |
| Muc4 |
A |
G |
16: 32,597,181 (GRCm39) |
N3174D |
possibly damaging |
Het |
| Myo6 |
G |
A |
9: 80,173,462 (GRCm39) |
R534H |
probably damaging |
Het |
| Nectin2 |
T |
C |
7: 19,458,794 (GRCm39) |
D339G |
probably benign |
Het |
| Oprd1 |
G |
A |
4: 131,871,721 (GRCm39) |
|
probably benign |
Het |
| Or6c66 |
T |
C |
10: 129,461,396 (GRCm39) |
D178G |
probably damaging |
Het |
| Orc1 |
G |
A |
4: 108,470,276 (GRCm39) |
V751I |
probably benign |
Het |
| Pacs2 |
T |
C |
12: 113,013,526 (GRCm39) |
S175P |
probably damaging |
Het |
| Pik3r5 |
C |
T |
11: 68,385,077 (GRCm39) |
R661C |
probably damaging |
Het |
| Plscr5 |
A |
T |
9: 92,087,564 (GRCm39) |
K178* |
probably null |
Het |
| Prkar1b |
A |
G |
5: 139,113,400 (GRCm39) |
V40A |
possibly damaging |
Het |
| Ptprf |
G |
A |
4: 118,093,374 (GRCm39) |
R90* |
probably null |
Het |
| Rasef |
T |
C |
4: 73,688,076 (GRCm39) |
M26V |
probably damaging |
Het |
| Rfx1 |
C |
A |
8: 84,800,533 (GRCm39) |
Q45K |
unknown |
Het |
| Rnf183 |
A |
G |
4: 62,346,753 (GRCm39) |
V15A |
possibly damaging |
Het |
| Slc10a2 |
C |
A |
8: 5,155,128 (GRCm39) |
C19F |
probably damaging |
Het |
| Slc14a2 |
T |
A |
18: 78,190,229 (GRCm39) |
I907F |
probably benign |
Het |
| Srcap |
C |
A |
7: 127,118,988 (GRCm39) |
A97E |
probably damaging |
Het |
| Thyn1 |
G |
T |
9: 26,916,511 (GRCm39) |
|
probably null |
Het |
| Tiparp |
T |
C |
3: 65,460,913 (GRCm39) |
I634T |
possibly damaging |
Het |
| Tjp1 |
G |
A |
7: 64,992,411 (GRCm39) |
A156V |
possibly damaging |
Het |
| Tmem168 |
T |
C |
6: 13,602,320 (GRCm39) |
M349V |
probably benign |
Het |
| Tyro3 |
T |
G |
2: 119,641,349 (GRCm39) |
F519L |
probably damaging |
Het |
| Vmn1r167 |
A |
T |
7: 23,204,646 (GRCm39) |
Y123* |
probably null |
Het |
| Vmn1r183 |
C |
T |
7: 23,754,227 (GRCm39) |
T10I |
possibly damaging |
Het |
| Zfp654 |
T |
C |
16: 64,606,289 (GRCm39) |
T97A |
probably benign |
Het |
|
| Other mutations in Snx16 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01348:Snx16
|
APN |
3 |
10,484,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02682:Snx16
|
APN |
3 |
10,503,235 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0539:Snx16
|
UTSW |
3 |
10,491,278 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1469:Snx16
|
UTSW |
3 |
10,499,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1469:Snx16
|
UTSW |
3 |
10,499,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1771:Snx16
|
UTSW |
3 |
10,484,221 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5262:Snx16
|
UTSW |
3 |
10,502,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5964:Snx16
|
UTSW |
3 |
10,499,541 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5969:Snx16
|
UTSW |
3 |
10,503,217 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6826:Snx16
|
UTSW |
3 |
10,503,148 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7456:Snx16
|
UTSW |
3 |
10,500,541 (GRCm39) |
nonsense |
probably null |
|
|
R7996:Snx16
|
UTSW |
3 |
10,500,509 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8095:Snx16
|
UTSW |
3 |
10,503,244 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R8822:Snx16
|
UTSW |
3 |
10,484,125 (GRCm39) |
missense |
probably benign |
|
|
R8880:Snx16
|
UTSW |
3 |
10,484,193 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9188:Snx16
|
UTSW |
3 |
10,485,835 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9425:Snx16
|
UTSW |
3 |
10,499,520 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Snx16
|
UTSW |
3 |
10,485,918 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GAGCAGATTCATGCTATAGTAACAC -3'
(R):5'- CCCAGTACTGTGAAGACTTAGCTG -3'
Sequencing Primer
(F):5'- CAGTAAGCTGCAACTTTCCATGG -3'
(R):5'- TACTGTGAAGACTTAGCTGGAGGC -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation