Incidental Mutation 'IGL02225:Snx1'
| ID |
285302 |
| 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 # |
IGL02225
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
65995409-66032168 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 66016903 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 56
(P56L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034946
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034946]
[ENSMUST00000137542]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034946
AA Change: P56L
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000034946
Gene: ENSMUSG00000032382
AA Change: P56L
| 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 |
probably benign
Transcript: ENSMUST00000137542
AA Change: P8L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000120746
Gene: ENSMUSG00000032382
AA Change: P8L
| 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: ENSMUST00000145449
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146893
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp4 |
A |
G |
7: 43,906,165 (GRCm39) |
|
probably null |
Het |
| Adgrf4 |
C |
A |
17: 42,974,269 (GRCm39) |
|
probably null |
Het |
| Aqp9 |
A |
T |
9: 71,037,829 (GRCm39) |
|
probably benign |
Het |
| C1s1 |
A |
G |
6: 124,518,293 (GRCm39) |
W8R |
probably benign |
Het |
| Cep43 |
T |
G |
17: 8,401,251 (GRCm39) |
D257E |
probably damaging |
Het |
| Cfap43 |
A |
G |
19: 47,800,616 (GRCm39) |
I345T |
probably benign |
Het |
| Cwh43 |
T |
C |
5: 73,578,910 (GRCm39) |
Y306H |
probably damaging |
Het |
| Cyp4a32 |
A |
T |
4: 115,467,700 (GRCm39) |
H228L |
probably benign |
Het |
| Ddx24 |
A |
G |
12: 103,383,630 (GRCm39) |
L607P |
probably damaging |
Het |
| Dlg3 |
A |
G |
X: 99,850,794 (GRCm39) |
K232R |
probably benign |
Het |
| Fig4 |
A |
G |
10: 41,132,448 (GRCm39) |
S453P |
probably benign |
Het |
| Frem1 |
A |
G |
4: 82,858,743 (GRCm39) |
L1556P |
probably damaging |
Het |
| Gjb2 |
T |
C |
14: 57,337,645 (GRCm39) |
K188E |
probably damaging |
Het |
| Gp1bb |
C |
A |
16: 18,439,650 (GRCm39) |
W148L |
possibly damaging |
Het |
| Grip1 |
C |
T |
10: 119,885,358 (GRCm39) |
T375M |
probably damaging |
Het |
| Hnf1b |
T |
C |
11: 83,752,611 (GRCm39) |
L82P |
probably damaging |
Het |
| Jakmip1 |
T |
C |
5: 37,262,200 (GRCm39) |
V333A |
probably damaging |
Het |
| Magi1 |
G |
T |
6: 93,671,007 (GRCm39) |
R1069S |
probably damaging |
Het |
| Myh15 |
A |
T |
16: 48,911,526 (GRCm39) |
E319D |
probably benign |
Het |
| Myl4 |
A |
G |
11: 104,471,228 (GRCm39) |
I42V |
probably benign |
Het |
| Obsl1 |
A |
T |
1: 75,480,442 (GRCm39) |
V394E |
probably damaging |
Het |
| Or1e1c |
T |
A |
11: 73,265,904 (GRCm39) |
F110I |
probably damaging |
Het |
| Or52ab7 |
A |
T |
7: 102,978,373 (GRCm39) |
I227F |
probably damaging |
Het |
| Or5w14 |
C |
T |
2: 87,541,743 (GRCm39) |
C169Y |
possibly damaging |
Het |
| Pcnt |
C |
T |
10: 76,225,308 (GRCm39) |
R1732K |
probably benign |
Het |
| Pkd1l3 |
T |
C |
8: 110,365,310 (GRCm39) |
Y1144H |
probably damaging |
Het |
| Pogz |
A |
G |
3: 94,786,327 (GRCm39) |
K972E |
probably damaging |
Het |
| Sccpdh |
A |
G |
1: 179,507,264 (GRCm39) |
T227A |
probably benign |
Het |
| Sec16b |
A |
G |
1: 157,359,614 (GRCm39) |
|
probably benign |
Het |
| Slain2 |
T |
A |
5: 73,098,733 (GRCm39) |
V163E |
probably damaging |
Het |
| Snx14 |
G |
A |
9: 88,295,577 (GRCm39) |
T196I |
probably damaging |
Het |
| Sspo |
T |
C |
6: 48,461,268 (GRCm39) |
F3570L |
probably benign |
Het |
| Tbrg4 |
C |
A |
11: 6,574,094 (GRCm39) |
V43F |
probably damaging |
Het |
| Traf3ip3 |
A |
G |
1: 192,877,408 (GRCm39) |
I176T |
probably benign |
Het |
| Trbv20 |
T |
A |
6: 41,165,241 (GRCm39) |
|
probably benign |
Het |
| Ubc |
A |
T |
5: 125,463,197 (GRCm39) |
V710D |
probably benign |
Het |
| Ugt2b35 |
T |
C |
5: 87,155,264 (GRCm39) |
|
probably benign |
Het |
| Zbed5 |
C |
T |
5: 129,930,974 (GRCm39) |
|
probably null |
Het |
| Zc3hav1 |
T |
C |
6: 38,317,276 (GRCm39) |
Y108C |
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 |
|
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation