Incidental Mutation 'IGL00823:Snx5'
ID |
14180 |
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 # |
IGL00823
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
144092043-144112713 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 144097485 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 217
(I217V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105657
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028909]
[ENSMUST00000110030]
|
AlphaFold |
Q9D8U8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000028909
AA Change: I217V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000028909 Gene: ENSMUSG00000027423 AA Change: I217V
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: ENSMUST00000110030
AA Change: I217V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000105657 Gene: ENSMUSG00000027423 AA Change: I217V
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 |
|
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aasdh |
T |
C |
5: 77,026,381 (GRCm39) |
|
probably benign |
Het |
Adam5 |
T |
C |
8: 25,308,758 (GRCm39) |
E39G |
probably benign |
Het |
Anapc7 |
G |
A |
5: 122,571,540 (GRCm39) |
W205* |
probably null |
Het |
Arhgap5 |
C |
T |
12: 52,565,525 (GRCm39) |
T832I |
possibly damaging |
Het |
Arhgef10 |
T |
A |
8: 14,990,378 (GRCm39) |
|
probably benign |
Het |
Atg5 |
A |
G |
10: 44,239,040 (GRCm39) |
T274A |
probably benign |
Het |
Baiap2l2 |
G |
T |
15: 79,168,765 (GRCm39) |
|
probably benign |
Het |
Brap |
T |
A |
5: 121,803,290 (GRCm39) |
M146K |
probably damaging |
Het |
Brpf1 |
T |
C |
6: 113,298,847 (GRCm39) |
S1074P |
probably benign |
Het |
Camta1 |
A |
C |
4: 151,169,058 (GRCm39) |
I231R |
probably benign |
Het |
Ccdc15 |
C |
T |
9: 37,231,709 (GRCm39) |
G205D |
probably benign |
Het |
Cd6 |
G |
T |
19: 10,773,758 (GRCm39) |
|
probably benign |
Het |
Cdh17 |
T |
G |
4: 11,783,412 (GRCm39) |
S219R |
possibly damaging |
Het |
Cgn |
G |
A |
3: 94,674,519 (GRCm39) |
R873W |
probably damaging |
Het |
Ctnna3 |
C |
T |
10: 63,373,322 (GRCm39) |
P41L |
possibly damaging |
Het |
Dmbt1 |
T |
C |
7: 130,659,888 (GRCm39) |
W484R |
probably benign |
Het |
Dmd |
A |
G |
X: 83,469,419 (GRCm39) |
|
probably null |
Het |
Dnah17 |
C |
T |
11: 117,937,987 (GRCm39) |
V3347I |
probably benign |
Het |
Fgd5 |
T |
A |
6: 91,965,440 (GRCm39) |
S400T |
possibly damaging |
Het |
Kitl |
C |
A |
10: 99,923,206 (GRCm39) |
|
probably benign |
Het |
Lamc3 |
A |
T |
2: 31,808,533 (GRCm39) |
D763V |
probably damaging |
Het |
Lgmn |
T |
C |
12: 102,364,435 (GRCm39) |
|
probably benign |
Het |
Lpcat2 |
T |
G |
8: 93,591,598 (GRCm39) |
W81G |
possibly damaging |
Het |
Myh13 |
A |
G |
11: 67,246,773 (GRCm39) |
I1165V |
probably benign |
Het |
Nf1 |
A |
G |
11: 79,456,343 (GRCm39) |
D599G |
probably damaging |
Het |
Nin |
T |
C |
12: 70,061,567 (GRCm39) |
N2099S |
probably benign |
Het |
Nlrc4 |
T |
C |
17: 74,754,985 (GRCm39) |
D77G |
probably benign |
Het |
Otub1 |
A |
G |
19: 7,181,416 (GRCm39) |
|
probably benign |
Het |
Pabir2 |
A |
T |
X: 52,334,208 (GRCm39) |
C222S |
probably damaging |
Het |
Pah |
A |
G |
10: 87,406,193 (GRCm39) |
Y174C |
probably null |
Het |
Rbbp5 |
G |
A |
1: 132,417,444 (GRCm39) |
V88I |
probably damaging |
Het |
Scn1a |
C |
T |
2: 66,155,279 (GRCm39) |
R560H |
probably benign |
Het |
Syne2 |
T |
C |
12: 76,036,016 (GRCm39) |
S3769P |
probably damaging |
Het |
Tent2 |
T |
C |
13: 93,322,905 (GRCm39) |
T15A |
probably benign |
Het |
Tmem255b |
T |
C |
8: 13,507,054 (GRCm39) |
M261T |
probably benign |
Het |
Top3b |
T |
C |
16: 16,705,486 (GRCm39) |
I417T |
probably damaging |
Het |
Tspan2 |
T |
C |
3: 102,665,549 (GRCm39) |
|
probably null |
Het |
Ttn |
T |
C |
2: 76,540,057 (GRCm39) |
T34310A |
possibly damaging |
Het |
Ush2a |
G |
A |
1: 188,643,640 (GRCm39) |
C4334Y |
possibly damaging |
Het |
Wdpcp |
A |
G |
11: 21,609,995 (GRCm39) |
D21G |
probably damaging |
Het |
Yy2 |
A |
C |
X: 156,351,207 (GRCm39) |
D186E |
probably benign |
Het |
|
Other mutations in Snx5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
2012-12-06 |