Incidental Mutation 'R3830:Snx5'
| ID |
273932 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R3830 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
144092043-144112713 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 144096821 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105657
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028909]
[ENSMUST00000028909]
[ENSMUST00000110030]
[ENSMUST00000110030]
|
| AlphaFold |
Q9D8U8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000028909
|
| SMART Domains |
Protein: ENSMUSP00000028909
Gene: ENSMUSG00000027423
| Domain | Start | End | E-Value | Type |
|---|
|
PX
|
31 |
169 |
1.85e-2 |
SMART |
|
Pfam:Vps5
|
179 |
398 |
6.3e-19 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000028909
|
| SMART Domains |
Protein: ENSMUSP00000028909
Gene: ENSMUSG00000027423
| Domain | Start | End | E-Value | Type |
|---|
|
PX
|
31 |
169 |
1.85e-2 |
SMART |
|
Pfam:Vps5
|
179 |
398 |
6.3e-19 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000110030
|
| SMART Domains |
Protein: ENSMUSP00000105657
Gene: ENSMUSG00000027423
| Domain | Start | End | E-Value | Type |
|---|
|
PX
|
31 |
169 |
1.85e-2 |
SMART |
|
Pfam:Vps5
|
179 |
398 |
1.7e-19 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000110030
|
| SMART Domains |
Protein: ENSMUSP00000105657
Gene: ENSMUSG00000027423
| 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: ENSMUST00000124389
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125285
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138745
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153033
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156936
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.7%
- 20x: 96.2%
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agpat5 |
A |
G |
8: 18,929,621 (GRCm39) |
E250G |
probably benign |
Het |
| Aox4 |
A |
T |
1: 58,294,670 (GRCm39) |
T960S |
probably damaging |
Het |
| Bach2 |
T |
A |
4: 32,563,150 (GRCm39) |
L539H |
probably damaging |
Het |
| Capn1 |
A |
T |
19: 6,044,877 (GRCm39) |
L465Q |
probably damaging |
Het |
| Cd300c |
A |
G |
11: 114,850,453 (GRCm39) |
F117L |
probably benign |
Het |
| Cep104 |
T |
G |
4: 154,069,400 (GRCm39) |
M207R |
probably damaging |
Het |
| Chd2 |
A |
G |
7: 73,141,163 (GRCm39) |
Y577H |
possibly damaging |
Het |
| Col4a1 |
C |
A |
8: 11,259,650 (GRCm39) |
G1341V |
probably damaging |
Het |
| Cplane2 |
C |
T |
4: 140,945,900 (GRCm39) |
R148C |
probably damaging |
Het |
| Cspg4 |
T |
G |
9: 56,804,905 (GRCm39) |
D1905E |
probably damaging |
Het |
| Dhx37 |
T |
C |
5: 125,508,677 (GRCm39) |
K86R |
probably benign |
Het |
| Drd2 |
T |
A |
9: 49,313,443 (GRCm39) |
V204D |
probably damaging |
Het |
| Gclc |
A |
T |
9: 77,699,242 (GRCm39) |
I520L |
probably benign |
Het |
| Gpat3 |
A |
G |
5: 101,032,252 (GRCm39) |
D183G |
probably benign |
Het |
| Gpat4 |
G |
A |
8: 23,670,171 (GRCm39) |
P286L |
probably damaging |
Het |
| Gprin3 |
T |
C |
6: 59,330,618 (GRCm39) |
E563G |
probably benign |
Het |
| Grm8 |
A |
T |
6: 27,761,228 (GRCm39) |
L332* |
probably null |
Het |
| Grpel1 |
T |
A |
5: 36,626,827 (GRCm39) |
N36K |
probably benign |
Het |
| Hecw1 |
C |
T |
13: 14,520,643 (GRCm39) |
S198N |
probably benign |
Het |
| Kcna2 |
T |
C |
3: 107,012,112 (GRCm39) |
I231T |
probably benign |
Het |
| Lpcat1 |
T |
C |
13: 73,637,212 (GRCm39) |
I114T |
possibly damaging |
Het |
| Mast4 |
G |
T |
13: 102,875,319 (GRCm39) |
H1350N |
probably damaging |
Het |
| Ncor2 |
T |
C |
5: 125,195,756 (GRCm39) |
|
probably benign |
Het |
| Ntn1 |
C |
G |
11: 68,276,619 (GRCm39) |
D110H |
probably damaging |
Het |
| Or2b11 |
G |
T |
11: 59,462,427 (GRCm39) |
N46K |
probably damaging |
Het |
| Pigb |
T |
C |
9: 72,924,755 (GRCm39) |
N468S |
probably benign |
Het |
| Pik3r2 |
G |
A |
8: 71,223,065 (GRCm39) |
R452C |
probably benign |
Het |
| Plekhg1 |
A |
G |
10: 3,823,400 (GRCm39) |
T123A |
probably damaging |
Het |
| Ptges3l |
T |
C |
11: 101,312,443 (GRCm39) |
*67W |
probably null |
Het |
| Rgs12 |
G |
A |
5: 35,123,359 (GRCm39) |
V381M |
possibly damaging |
Het |
| Rrm2 |
G |
T |
12: 24,758,598 (GRCm39) |
A47S |
probably benign |
Het |
| Six2 |
G |
T |
17: 85,992,615 (GRCm39) |
S296Y |
probably damaging |
Het |
| Slc5a12 |
T |
A |
2: 110,463,081 (GRCm39) |
C392* |
probably null |
Het |
| Svep1 |
A |
G |
4: 58,096,177 (GRCm39) |
L1481P |
probably damaging |
Het |
| Tspan18 |
T |
C |
2: 93,050,453 (GRCm39) |
I57V |
probably benign |
Het |
| Ube3b |
C |
A |
5: 114,538,012 (GRCm39) |
Q368K |
probably damaging |
Het |
| Zfhx4 |
A |
T |
3: 5,466,269 (GRCm39) |
K2142N |
probably damaging |
Het |
| Zfp729a |
A |
T |
13: 67,767,997 (GRCm39) |
F744Y |
probably 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 |
|
|
IGL01739:Snx5
|
APN |
2 |
144,112,325 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CAGCCTCTATGTTGAGCATGTAG -3'
(R):5'- AAAGTCCTGGTGGCAGCATC -3'
Sequencing Primer
(F):5'- CATGTAGTATCGGAGGAGCTC -3'
(R):5'- TGGAACTCACTCTGTAGACCG -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation