Incidental Mutation 'IGL02070:Snx1'
| ID |
185776 |
| 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 # |
IGL02070
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
65995409-66032168 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 66005731 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 129
(S129R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120746
(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: S177R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000034946
Gene: ENSMUSG00000032382
AA Change: S177R
| 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 damaging
Transcript: ENSMUST00000137542
AA Change: S129R
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000120746
Gene: ENSMUSG00000032382
AA Change: S129R
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg6 |
A |
G |
10: 14,343,336 (GRCm39) |
Y204H |
probably damaging |
Het |
| Akap13 |
C |
A |
7: 75,316,293 (GRCm39) |
T583K |
probably benign |
Het |
| Alms1 |
C |
A |
6: 85,628,385 (GRCm39) |
Q2948K |
possibly damaging |
Het |
| Auts2 |
C |
T |
5: 131,499,259 (GRCm39) |
R327Q |
probably damaging |
Het |
| Card14 |
A |
C |
11: 119,235,530 (GRCm39) |
E988A |
probably damaging |
Het |
| Ccl25 |
T |
C |
8: 4,398,700 (GRCm39) |
|
probably benign |
Het |
| Cttnbp2nl |
A |
C |
3: 104,918,582 (GRCm39) |
V86G |
probably damaging |
Het |
| Cyb5r2 |
G |
A |
7: 107,350,394 (GRCm39) |
T213I |
probably damaging |
Het |
| Ear6 |
A |
G |
14: 52,091,903 (GRCm39) |
H150R |
probably damaging |
Het |
| Ecm2 |
T |
C |
13: 49,671,846 (GRCm39) |
C116R |
probably damaging |
Het |
| Gabrr2 |
G |
T |
4: 33,095,340 (GRCm39) |
E385* |
probably null |
Het |
| Hyal5 |
T |
A |
6: 24,876,961 (GRCm39) |
V278D |
probably damaging |
Het |
| Mboat1 |
T |
C |
13: 30,408,380 (GRCm39) |
L181P |
probably benign |
Het |
| Mdm1 |
A |
G |
10: 117,982,523 (GRCm39) |
I53V |
probably damaging |
Het |
| Mfrp |
T |
C |
9: 44,015,986 (GRCm39) |
Y368H |
probably benign |
Het |
| Myo1b |
A |
G |
1: 51,833,496 (GRCm39) |
V365A |
probably damaging |
Het |
| Nexmif |
G |
T |
X: 103,126,817 (GRCm39) |
H1509Q |
probably benign |
Het |
| Nlrp4a |
G |
T |
7: 26,148,703 (GRCm39) |
K103N |
possibly damaging |
Het |
| Obox6 |
G |
A |
7: 15,568,804 (GRCm39) |
S24L |
probably damaging |
Het |
| Optc |
T |
A |
1: 133,828,914 (GRCm39) |
I178F |
probably damaging |
Het |
| Or4p22 |
T |
A |
2: 88,317,346 (GRCm39) |
I90N |
probably damaging |
Het |
| Or56a42-ps1 |
G |
T |
7: 104,776,254 (GRCm39) |
L85I |
probably benign |
Het |
| Pcdh15 |
T |
A |
10: 74,466,700 (GRCm39) |
N1535K |
probably benign |
Het |
| Pcdhb19 |
A |
T |
18: 37,631,597 (GRCm39) |
N464I |
probably damaging |
Het |
| Pcsk5 |
C |
T |
19: 17,416,406 (GRCm39) |
V1681I |
probably benign |
Het |
| Phf8-ps |
T |
C |
17: 33,285,104 (GRCm39) |
E566G |
probably damaging |
Het |
| Pknox1 |
T |
A |
17: 31,822,339 (GRCm39) |
|
probably benign |
Het |
| Ppa2 |
T |
C |
3: 133,083,623 (GRCm39) |
F327S |
probably damaging |
Het |
| Rab39b |
G |
T |
X: 74,618,309 (GRCm39) |
L174M |
probably damaging |
Het |
| Reep5 |
A |
T |
18: 34,505,526 (GRCm39) |
Y48* |
probably null |
Het |
| Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
| Sar1a |
T |
A |
10: 61,520,673 (GRCm39) |
|
probably benign |
Het |
| Satb1 |
T |
A |
17: 52,047,095 (GRCm39) |
D740V |
probably damaging |
Het |
| Sema3f |
G |
A |
9: 107,569,440 (GRCm39) |
T128I |
probably damaging |
Het |
| Sptb |
T |
A |
12: 76,652,313 (GRCm39) |
K1641N |
possibly damaging |
Het |
| Sptbn1 |
T |
C |
11: 30,095,979 (GRCm39) |
E305G |
probably damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Taar7d |
A |
T |
10: 23,904,152 (GRCm39) |
I345F |
probably benign |
Het |
| Tes |
T |
C |
6: 17,099,779 (GRCm39) |
L258P |
probably damaging |
Het |
| Trav9-4 |
A |
T |
14: 53,913,817 (GRCm39) |
T24S |
possibly damaging |
Het |
| Utp20 |
A |
G |
10: 88,657,739 (GRCm39) |
|
probably benign |
Het |
| Vcam1 |
T |
A |
3: 115,919,646 (GRCm39) |
T207S |
probably benign |
Het |
| Xkrx |
T |
C |
X: 133,051,311 (GRCm39) |
S447G |
probably benign |
Het |
| Zfp318 |
T |
C |
17: 46,707,644 (GRCm39) |
L234P |
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 |
|
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 |
2014-05-07 |
Incidental Mutation