Incidental Mutation 'IGL03188:Snx1'
| ID |
412537 |
| 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 # |
IGL03188
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
65995409-66032168 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 66001734 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 307
(W307R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034946
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034946]
[ENSMUST00000137542]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034946
AA Change: W307R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034946
Gene: ENSMUSG00000032382
AA Change: W307R
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts18 |
C |
A |
8: 114,425,656 (GRCm39) |
C1202F |
probably damaging |
Het |
| Ago2 |
C |
T |
15: 72,995,182 (GRCm39) |
V466I |
probably benign |
Het |
| Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
| Aptx |
A |
T |
4: 40,695,143 (GRCm39) |
|
probably null |
Het |
| Aurka |
A |
T |
2: 172,205,688 (GRCm39) |
D123E |
possibly damaging |
Het |
| Btaf1 |
T |
C |
19: 36,926,508 (GRCm39) |
I60T |
possibly damaging |
Het |
| Ccdc154 |
A |
T |
17: 25,383,067 (GRCm39) |
|
probably null |
Het |
| Cct5 |
T |
C |
15: 31,598,148 (GRCm39) |
N55S |
probably benign |
Het |
| Cntnap3 |
A |
G |
13: 64,929,559 (GRCm39) |
S547P |
probably damaging |
Het |
| Efl1 |
T |
A |
7: 82,320,909 (GRCm39) |
I114N |
probably damaging |
Het |
| Gprin1 |
T |
C |
13: 54,886,465 (GRCm39) |
D603G |
probably benign |
Het |
| Il16 |
A |
G |
7: 83,337,371 (GRCm39) |
S115P |
probably benign |
Het |
| Kalrn |
C |
A |
16: 34,134,562 (GRCm39) |
V401L |
probably benign |
Het |
| Kcnq4 |
T |
A |
4: 120,561,623 (GRCm39) |
K482I |
possibly damaging |
Het |
| L3mbtl3 |
C |
T |
10: 26,218,515 (GRCm39) |
A114T |
unknown |
Het |
| Lig1 |
G |
A |
7: 13,045,032 (GRCm39) |
|
probably benign |
Het |
| Lnx1 |
G |
A |
5: 74,780,924 (GRCm39) |
T199M |
probably damaging |
Het |
| Mapk13 |
A |
G |
17: 28,995,557 (GRCm39) |
|
probably benign |
Het |
| Mfsd2b |
A |
T |
12: 4,916,538 (GRCm39) |
|
probably null |
Het |
| Mrpl3 |
A |
G |
9: 104,934,264 (GRCm39) |
D137G |
probably benign |
Het |
| Muc15 |
A |
G |
2: 110,562,044 (GRCm39) |
D160G |
probably benign |
Het |
| Myh4 |
T |
C |
11: 67,137,369 (GRCm39) |
|
probably null |
Het |
| Nipa2 |
T |
G |
7: 55,582,680 (GRCm39) |
N355T |
probably benign |
Het |
| Or11h4 |
A |
T |
14: 50,974,315 (GRCm39) |
Y101* |
probably null |
Het |
| Or2v2 |
T |
C |
11: 49,004,536 (GRCm39) |
N6D |
probably damaging |
Het |
| Or51a43 |
A |
G |
7: 103,717,945 (GRCm39) |
S98P |
possibly damaging |
Het |
| Or5p60 |
T |
C |
7: 107,723,841 (GRCm39) |
T210A |
probably benign |
Het |
| Pfkm |
G |
T |
15: 98,021,124 (GRCm39) |
|
probably null |
Het |
| Ppip5k1 |
A |
G |
2: 121,157,327 (GRCm39) |
|
probably benign |
Het |
| Ppp1r18 |
A |
G |
17: 36,178,857 (GRCm39) |
D244G |
possibly damaging |
Het |
| Rimoc1 |
A |
G |
15: 4,018,187 (GRCm39) |
Y163H |
probably damaging |
Het |
| Scn2a |
T |
C |
2: 65,501,997 (GRCm39) |
S107P |
probably damaging |
Het |
| Scn5a |
A |
T |
9: 119,351,632 (GRCm39) |
I783N |
probably damaging |
Het |
| Spata31g1 |
A |
G |
4: 42,971,225 (GRCm39) |
Y186C |
possibly damaging |
Het |
| Stk11ip |
G |
A |
1: 75,511,079 (GRCm39) |
V928M |
probably benign |
Het |
| Tgm4 |
A |
G |
9: 122,874,101 (GRCm39) |
M114V |
probably null |
Het |
| Trpm2 |
G |
A |
10: 77,754,743 (GRCm39) |
R1248C |
probably benign |
Het |
| Txnrd1 |
T |
C |
10: 82,720,880 (GRCm39) |
I347T |
possibly damaging |
Het |
| Unc5a |
A |
G |
13: 55,147,316 (GRCm39) |
S106G |
probably damaging |
Het |
| Vmn2r85 |
T |
C |
10: 130,254,612 (GRCm39) |
M691V |
probably benign |
Het |
| Zfp58 |
T |
A |
13: 67,639,528 (GRCm39) |
Q321L |
probably benign |
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 |
|
|
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 |
2016-08-02 |
Incidental Mutation