Incidental Mutation 'IGL01739:Snx5'
| ID |
105800 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Snx5
|
| Ensembl Gene |
ENSMUSG00000027423 |
| Gene Name |
sorting nexin 5 |
| Synonyms |
0910001N05Rik, D2Ertd52e, 1810032P22Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.292)
|
| Stock # |
IGL01739
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
144092043-144112713 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 144112325 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 8
(L8P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105657
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028909]
[ENSMUST00000028910]
[ENSMUST00000110027]
[ENSMUST00000110028]
[ENSMUST00000110030]
|
| AlphaFold |
Q9D8U8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028909
AA Change: L8P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000028909
Gene: ENSMUSG00000027423
AA Change: L8P
| Domain | Start | End | E-Value | Type |
|---|
|
PX
|
31 |
169 |
1.85e-2 |
SMART |
|
Pfam:Vps5
|
179 |
398 |
6.3e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028910
|
| SMART Domains |
Protein: ENSMUSP00000028910
Gene: ENSMUSG00000027424
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PDDEXK_1
|
30 |
336 |
4.7e-12 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000104526
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110027
|
| SMART Domains |
Protein: ENSMUSP00000105654
Gene: ENSMUSG00000027424
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PDDEXK_1
|
189 |
333 |
5.9e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110028
|
| SMART Domains |
Protein: ENSMUSP00000105655
Gene: ENSMUSG00000027424
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PDDEXK_1
|
30 |
336 |
4.7e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110030
AA Change: L8P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000105657
Gene: ENSMUSG00000027423
AA Change: L8P
| Domain | Start | End | E-Value | Type |
|---|
|
PX
|
31 |
169 |
1.85e-2 |
SMART |
|
Pfam:Vps5
|
179 |
398 |
1.7e-19 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155509
|
| 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 protein functions in endosomal sorting, the phosphoinositide-signaling pathway, and macropinocytosis. This gene may play a role in the tumorigenesis of papillary thyroid carcinoma. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2013]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit impaired alveolar epithelial differentiation of type I cells, respiratory failure and lethality during the perinatal and postnatal periods. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp4 |
G |
T |
7: 43,906,210 (GRCm39) |
Y88* |
probably null |
Het |
| Aftph |
T |
C |
11: 20,676,994 (GRCm39) |
D205G |
probably damaging |
Het |
| Arhgap31 |
T |
C |
16: 38,423,793 (GRCm39) |
I758V |
probably benign |
Het |
| Atg9b |
A |
G |
5: 24,591,513 (GRCm39) |
|
probably null |
Het |
| Auts2 |
T |
C |
5: 131,469,056 (GRCm39) |
T754A |
probably benign |
Het |
| Birc6 |
A |
G |
17: 74,966,216 (GRCm39) |
M4048V |
probably benign |
Het |
| Cacna1s |
T |
C |
1: 136,024,870 (GRCm39) |
|
probably null |
Het |
| Cmpk1 |
C |
T |
4: 114,822,121 (GRCm39) |
A143T |
probably benign |
Het |
| Cstf2t |
C |
A |
19: 31,060,536 (GRCm39) |
P24Q |
probably damaging |
Het |
| Cwc22 |
A |
G |
2: 77,757,640 (GRCm39) |
S163P |
probably damaging |
Het |
| Dnaaf11 |
T |
A |
15: 66,321,326 (GRCm39) |
M272L |
probably benign |
Het |
| Faf1 |
T |
A |
4: 109,534,278 (GRCm39) |
|
probably benign |
Het |
| Focad |
T |
A |
4: 88,289,043 (GRCm39) |
I1279N |
unknown |
Het |
| Gp5 |
T |
C |
16: 30,127,459 (GRCm39) |
D405G |
possibly damaging |
Het |
| Guf1 |
C |
A |
5: 69,718,501 (GRCm39) |
N213K |
probably damaging |
Het |
| Hacd4 |
T |
C |
4: 88,341,285 (GRCm39) |
T145A |
probably damaging |
Het |
| Itga11 |
T |
C |
9: 62,681,399 (GRCm39) |
M1005T |
probably benign |
Het |
| Mast4 |
T |
A |
13: 102,910,781 (GRCm39) |
T621S |
probably damaging |
Het |
| Mme |
T |
C |
3: 63,247,534 (GRCm39) |
M273T |
possibly damaging |
Het |
| Mos |
A |
G |
4: 3,871,816 (GRCm39) |
|
probably benign |
Het |
| Msln |
C |
T |
17: 25,969,004 (GRCm39) |
|
probably null |
Het |
| Mtg1 |
A |
T |
7: 139,730,149 (GRCm39) |
Q315L |
probably benign |
Het |
| Myh1 |
A |
G |
11: 67,105,354 (GRCm39) |
E1048G |
probably damaging |
Het |
| Ndufa9 |
C |
T |
6: 126,821,777 (GRCm39) |
G66D |
probably damaging |
Het |
| Nr1i2 |
T |
C |
16: 38,086,333 (GRCm39) |
K44R |
probably benign |
Het |
| Nup155 |
T |
A |
15: 8,165,272 (GRCm39) |
M636K |
probably benign |
Het |
| Or12d12 |
A |
T |
17: 37,610,673 (GRCm39) |
F213L |
probably benign |
Het |
| Or5b96 |
T |
A |
19: 12,867,513 (GRCm39) |
T143S |
probably benign |
Het |
| Pde4b |
A |
T |
4: 102,458,832 (GRCm39) |
Q496L |
probably damaging |
Het |
| Plekha6 |
T |
C |
1: 133,187,869 (GRCm39) |
V130A |
probably benign |
Het |
| Prag1 |
A |
G |
8: 36,569,834 (GRCm39) |
N139S |
probably benign |
Het |
| Rbpj-ps3 |
T |
C |
6: 46,507,694 (GRCm39) |
T19A |
probably benign |
Het |
| Scai |
A |
G |
2: 38,984,803 (GRCm39) |
|
probably benign |
Het |
| Slc12a7 |
A |
G |
13: 73,947,733 (GRCm39) |
T617A |
probably benign |
Het |
| Slc15a2 |
T |
C |
16: 36,576,592 (GRCm39) |
M481V |
probably benign |
Het |
| Spg11 |
C |
T |
2: 121,945,152 (GRCm39) |
A123T |
probably damaging |
Het |
| Supt6 |
T |
A |
11: 78,113,013 (GRCm39) |
I977F |
probably damaging |
Het |
| Tjp3 |
T |
C |
10: 81,114,490 (GRCm39) |
D442G |
probably benign |
Het |
| Ttc21b |
A |
T |
2: 66,068,200 (GRCm39) |
N275K |
probably benign |
Het |
| Vmn2r50 |
A |
G |
7: 9,771,364 (GRCm39) |
F779S |
probably damaging |
Het |
| Xirp2 |
A |
T |
2: 67,345,482 (GRCm39) |
R2574S |
probably benign |
Het |
| Zbp1 |
T |
C |
2: 173,054,038 (GRCm39) |
E161G |
possibly damaging |
Het |
|
| Other mutations in Snx5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00823:Snx5
|
APN |
2 |
144,097,485 (GRCm39) |
missense |
probably benign |
|
|
IGL03394:Snx5
|
APN |
2 |
144,095,674 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0052:Snx5
|
UTSW |
2 |
144,101,112 (GRCm39) |
splice site |
probably null |
|
|
R0052:Snx5
|
UTSW |
2 |
144,101,112 (GRCm39) |
splice site |
probably null |
|
|
R0344:Snx5
|
UTSW |
2 |
144,099,128 (GRCm39) |
splice site |
probably benign |
|
|
R0848:Snx5
|
UTSW |
2 |
144,095,726 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1440:Snx5
|
UTSW |
2 |
144,096,731 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R2282:Snx5
|
UTSW |
2 |
144,095,595 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3830:Snx5
|
UTSW |
2 |
144,096,821 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5727:Snx5
|
UTSW |
2 |
144,102,674 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6048:Snx5
|
UTSW |
2 |
144,101,073 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7497:Snx5
|
UTSW |
2 |
144,099,894 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7664:Snx5
|
UTSW |
2 |
144,099,924 (GRCm39) |
splice site |
probably null |
|
|
R7895:Snx5
|
UTSW |
2 |
144,095,740 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8098:Snx5
|
UTSW |
2 |
144,097,482 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8745:Snx5
|
UTSW |
2 |
144,103,932 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9745:Snx5
|
UTSW |
2 |
144,096,716 (GRCm39) |
missense |
probably benign |
0.25 |
|
Z1088:Snx5
|
UTSW |
2 |
144,094,411 (GRCm39) |
missense |
probably benign |
0.29 |
|
Z1177:Snx5
|
UTSW |
2 |
144,100,999 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2014-01-21 |
Incidental Mutation