Incidental Mutation 'R4487:Snx1'
ID |
331660 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Snx1
|
Ensembl Gene |
ENSMUSG00000032382 |
Gene Name |
sorting nexin 1 |
Synonyms |
|
MMRRC Submission |
041743-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4487 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
65995409-66032168 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 65996877 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 459
(V459E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034946
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034946]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034946
AA Change: V459E
PolyPhen 2
Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000034946 Gene: ENSMUSG00000032382 AA Change: V459E
Domain | Start | End | E-Value | Type |
Pfam:Sorting_nexin
|
10 |
137 |
2.6e-29 |
PFAM |
PX
|
140 |
267 |
7.59e-40 |
SMART |
Pfam:Vps5
|
283 |
516 |
3.2e-86 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132841
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143148
|
Meta Mutation Damage Score |
0.8453 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
Validation Efficiency |
100% (41/41) |
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 endosomal protein regulates the cell-surface expression of epidermal growth factor receptor. This protein also has a role in sorting protease-activated receptor-1 from early endosomes to lysosomes. This protein may form oligomeric complexes with family members. This gene results in three transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] PHENOTYPE: Homozygous mutant mice are viable and fertile and do not exhibit any apparent abnormalities. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310030G06Rik |
A |
G |
9: 50,651,931 (GRCm39) |
L99P |
probably damaging |
Het |
Abcd2 |
A |
G |
15: 91,062,486 (GRCm39) |
V484A |
probably damaging |
Het |
Adgrv1 |
A |
G |
13: 81,588,185 (GRCm39) |
I4467T |
probably damaging |
Het |
Ash1l |
T |
A |
3: 88,892,622 (GRCm39) |
D1500E |
possibly damaging |
Het |
C1ql2 |
A |
T |
1: 120,269,409 (GRCm39) |
Y188F |
possibly damaging |
Het |
Cnga2 |
T |
A |
X: 71,049,733 (GRCm39) |
F133I |
possibly damaging |
Het |
Crybg2 |
T |
C |
4: 133,801,512 (GRCm39) |
S891P |
probably benign |
Het |
Hao2 |
T |
A |
3: 98,789,341 (GRCm39) |
I116F |
probably damaging |
Het |
Htr1b |
A |
T |
9: 81,513,592 (GRCm39) |
D338E |
probably benign |
Het |
Kalrn |
C |
T |
16: 33,810,180 (GRCm39) |
D2525N |
possibly damaging |
Het |
Kif9 |
A |
G |
9: 110,323,552 (GRCm39) |
E225G |
probably null |
Het |
Krt76 |
T |
C |
15: 101,798,917 (GRCm39) |
K256R |
possibly damaging |
Het |
Mapk4 |
T |
C |
18: 74,064,046 (GRCm39) |
D392G |
probably damaging |
Het |
Mthfr |
A |
G |
4: 148,135,884 (GRCm39) |
K278R |
probably benign |
Het |
Mup4 |
T |
A |
4: 59,960,547 (GRCm39) |
E18V |
probably damaging |
Het |
Nepro |
A |
G |
16: 44,556,089 (GRCm39) |
K416E |
probably damaging |
Het |
Ngf |
G |
A |
3: 102,428,015 (GRCm39) |
D255N |
probably damaging |
Het |
Nmu |
A |
G |
5: 76,491,909 (GRCm39) |
|
probably null |
Het |
Nt5m |
A |
G |
11: 59,739,173 (GRCm39) |
Y73C |
probably damaging |
Het |
Oaz3 |
A |
T |
3: 94,342,437 (GRCm39) |
|
probably null |
Het |
Pgap1 |
A |
G |
1: 54,567,751 (GRCm39) |
S365P |
probably benign |
Het |
Plxna2 |
C |
T |
1: 194,431,625 (GRCm39) |
S538F |
probably damaging |
Het |
Pus7l |
A |
G |
15: 94,429,498 (GRCm39) |
I440T |
possibly damaging |
Het |
Raph1 |
C |
T |
1: 60,542,028 (GRCm39) |
S362N |
possibly damaging |
Het |
Rftn2 |
A |
G |
1: 55,241,311 (GRCm39) |
Y330H |
possibly damaging |
Het |
Rhot2 |
G |
A |
17: 26,058,467 (GRCm39) |
H580Y |
probably benign |
Het |
Rnase2a |
A |
T |
14: 51,493,302 (GRCm39) |
M21K |
unknown |
Het |
Rusf1 |
T |
C |
7: 127,887,530 (GRCm39) |
D24G |
probably damaging |
Het |
Smchd1 |
T |
C |
17: 71,714,230 (GRCm39) |
T878A |
probably benign |
Het |
Suz12 |
A |
G |
11: 79,922,939 (GRCm39) |
T694A |
probably benign |
Het |
Tg |
G |
A |
15: 66,543,245 (GRCm39) |
C53Y |
probably damaging |
Het |
Tor1aip1 |
G |
T |
1: 155,882,870 (GRCm39) |
T326K |
probably damaging |
Het |
Vmn1r61 |
C |
A |
7: 5,613,924 (GRCm39) |
C130F |
possibly damaging |
Het |
Xlr5b |
T |
C |
X: 72,201,504 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Snx1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00806:Snx1
|
APN |
9 |
65,996,867 (GRCm39) |
nonsense |
probably null |
|
IGL01015:Snx1
|
APN |
9 |
66,001,713 (GRCm39) |
missense |
possibly damaging |
0.72 |
IGL02070:Snx1
|
APN |
9 |
66,005,731 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02225:Snx1
|
APN |
9 |
66,016,903 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02984:Snx1
|
APN |
9 |
65,996,390 (GRCm39) |
splice site |
probably benign |
|
IGL03069:Snx1
|
APN |
9 |
66,001,906 (GRCm39) |
missense |
probably benign |
|
IGL03188:Snx1
|
APN |
9 |
66,001,734 (GRCm39) |
missense |
probably damaging |
1.00 |
FR4589:Snx1
|
UTSW |
9 |
66,012,208 (GRCm39) |
small insertion |
probably benign |
|
FR4976:Snx1
|
UTSW |
9 |
66,012,212 (GRCm39) |
small insertion |
probably benign |
|
FR4976:Snx1
|
UTSW |
9 |
66,012,211 (GRCm39) |
small insertion |
probably benign |
|
R0116:Snx1
|
UTSW |
9 |
65,995,821 (GRCm39) |
nonsense |
probably null |
|
R0243:Snx1
|
UTSW |
9 |
66,008,608 (GRCm39) |
splice site |
probably benign |
|
R0755:Snx1
|
UTSW |
9 |
66,005,738 (GRCm39) |
missense |
probably damaging |
1.00 |
R0981:Snx1
|
UTSW |
9 |
66,016,841 (GRCm39) |
missense |
probably benign |
|
R1495:Snx1
|
UTSW |
9 |
66,003,879 (GRCm39) |
missense |
probably benign |
0.23 |
R1528:Snx1
|
UTSW |
9 |
66,016,825 (GRCm39) |
missense |
probably damaging |
1.00 |
R1725:Snx1
|
UTSW |
9 |
66,005,611 (GRCm39) |
critical splice donor site |
probably null |
|
R3752:Snx1
|
UTSW |
9 |
66,012,933 (GRCm39) |
splice site |
probably null |
|
R4778:Snx1
|
UTSW |
9 |
66,008,698 (GRCm39) |
intron |
probably benign |
|
R4975:Snx1
|
UTSW |
9 |
66,012,187 (GRCm39) |
nonsense |
probably null |
|
R5043:Snx1
|
UTSW |
9 |
66,004,718 (GRCm39) |
missense |
probably benign |
0.04 |
R6346:Snx1
|
UTSW |
9 |
66,001,930 (GRCm39) |
missense |
possibly damaging |
0.62 |
R8063:Snx1
|
UTSW |
9 |
66,004,676 (GRCm39) |
unclassified |
probably benign |
|
R9679:Snx1
|
UTSW |
9 |
65,998,002 (GRCm39) |
missense |
probably benign |
0.14 |
RF045:Snx1
|
UTSW |
9 |
66,012,204 (GRCm39) |
small insertion |
probably benign |
|
T0722:Snx1
|
UTSW |
9 |
66,012,209 (GRCm39) |
small insertion |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- AAGCTTTCTCTGCGGGCAAG -3'
(R):5'- CTCCTGTAGAATTGCACCATGAC -3'
Sequencing Primer
(F):5'- AGGACACATAGCAGCTCCTGG -3'
(R):5'- TGACATTAAATGACACTGCGC -3'
|
Posted On |
2015-07-21 |