Incidental Mutation 'IGL01015:Snx1'
| ID |
53773 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Snx1
|
| Ensembl Gene |
ENSMUSG00000032382 |
| Gene Name |
sorting nexin 1 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01015
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
65995409-66032168 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 66001713 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 314
(E314K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034946
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034946]
[ENSMUST00000137542]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034946
AA Change: E314K
PolyPhen 2
Score 0.722 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000034946
Gene: ENSMUSG00000032382
AA Change: E314K
| 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 |
probably benign
Transcript: ENSMUST00000137542
|
| SMART Domains |
Protein: ENSMUSP00000120746
Gene: ENSMUSG00000032382
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sorting_nexin
|
3 |
89 |
6.9e-25 |
PFAM |
|
PX
|
92 |
192 |
2.37e-9 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139872
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143148
|
| Coding Region Coverage |
|
| 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 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano4 |
A |
G |
10: 88,870,961 (GRCm39) |
Y238H |
probably damaging |
Het |
| Apol7a |
T |
C |
15: 77,274,055 (GRCm39) |
|
probably benign |
Het |
| Cacna1d |
A |
T |
14: 29,773,699 (GRCm39) |
|
probably benign |
Het |
| Col12a1 |
A |
G |
9: 79,541,023 (GRCm39) |
V2368A |
probably damaging |
Het |
| Creb3l4 |
A |
G |
3: 90,150,138 (GRCm39) |
M1T |
probably null |
Het |
| Dpys |
T |
C |
15: 39,710,045 (GRCm39) |
D128G |
probably damaging |
Het |
| Ero1b |
A |
G |
13: 12,616,623 (GRCm39) |
|
probably null |
Het |
| Fcgbpl1 |
T |
C |
7: 27,854,743 (GRCm39) |
C1790R |
probably damaging |
Het |
| Fcgr4 |
A |
G |
1: 170,853,358 (GRCm39) |
S188G |
possibly damaging |
Het |
| Fry |
A |
G |
5: 150,346,252 (GRCm39) |
D1587G |
probably benign |
Het |
| Gm43638 |
T |
A |
5: 87,634,473 (GRCm39) |
R45* |
probably null |
Het |
| Gm7647 |
T |
A |
5: 95,111,746 (GRCm39) |
C152S |
probably benign |
Het |
| Golga3 |
T |
G |
5: 110,335,583 (GRCm39) |
M299R |
probably benign |
Het |
| Iqub |
A |
T |
6: 24,501,005 (GRCm39) |
|
probably benign |
Het |
| Irak3 |
A |
T |
10: 119,978,695 (GRCm39) |
Y493* |
probably null |
Het |
| Jakmip1 |
G |
T |
5: 37,242,750 (GRCm39) |
E13* |
probably null |
Het |
| Morc3 |
G |
A |
16: 93,659,534 (GRCm39) |
C446Y |
probably damaging |
Het |
| Mroh2b |
G |
A |
15: 4,971,024 (GRCm39) |
D1010N |
probably damaging |
Het |
| Or14c44 |
A |
G |
7: 86,061,998 (GRCm39) |
T184A |
probably damaging |
Het |
| Or2y16 |
T |
A |
11: 49,335,201 (GRCm39) |
N174K |
probably damaging |
Het |
| Or5m9 |
A |
T |
2: 85,876,996 (GRCm39) |
M57L |
possibly damaging |
Het |
| Pkhd1 |
G |
A |
1: 20,593,482 (GRCm39) |
H1544Y |
possibly damaging |
Het |
| Rps2-ps10 |
C |
T |
18: 61,392,896 (GRCm39) |
|
probably benign |
Het |
| Smco1 |
T |
C |
16: 32,092,887 (GRCm39) |
V186A |
probably damaging |
Het |
| Timd2 |
T |
C |
11: 46,567,170 (GRCm39) |
Y255C |
probably benign |
Het |
| Tnc |
A |
T |
4: 63,935,571 (GRCm39) |
I455K |
probably benign |
Het |
| Tsc22d1 |
A |
G |
14: 76,656,181 (GRCm39) |
I31V |
possibly damaging |
Het |
| Tyk2 |
A |
G |
9: 21,031,996 (GRCm39) |
S360P |
probably benign |
Het |
| Uroc1 |
G |
T |
6: 90,335,883 (GRCm39) |
|
probably benign |
Het |
| Vmn1r122 |
A |
T |
7: 20,867,761 (GRCm39) |
V98E |
probably damaging |
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 |
|
|
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 |
|
|
R4487:Snx1
|
UTSW |
9 |
65,996,877 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
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 |
|
|
| Posted On |
2013-06-28 |
Incidental Mutation