Incidental Mutation 'IGL03357:Snx7'
ID |
419990 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Snx7
|
Ensembl Gene |
ENSMUSG00000028007 |
Gene Name |
sorting nexin 7 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.097)
|
Stock # |
IGL03357
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
117575296-117662585 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 117632524 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 131
(H131R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143230
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029639]
[ENSMUST00000167877]
[ENSMUST00000198499]
|
AlphaFold |
Q9CY18 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000029639
AA Change: H189R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000029639 Gene: ENSMUSG00000028007 AA Change: H189R
Domain | Start | End | E-Value | Type |
low complexity region
|
38 |
51 |
N/A |
INTRINSIC |
PX
|
85 |
205 |
1.55e-22 |
SMART |
coiled coil region
|
362 |
391 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000167877
|
SMART Domains |
Protein: ENSMUSP00000125804 Gene: ENSMUSG00000028007
Domain | Start | End | E-Value | Type |
low complexity region
|
10 |
23 |
N/A |
INTRINSIC |
PX
|
57 |
196 |
3.62e-2 |
SMART |
coiled coil region
|
279 |
308 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000169812
AA Change: H180R
|
SMART Domains |
Protein: ENSMUSP00000128007 Gene: ENSMUSG00000028007 AA Change: H180R
Domain | Start | End | E-Value | Type |
low complexity region
|
30 |
43 |
N/A |
INTRINSIC |
PX
|
77 |
197 |
1.55e-22 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000198499
AA Change: H131R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000143230 Gene: ENSMUSG00000028007 AA Change: H131R
Domain | Start | End | E-Value | Type |
PX
|
27 |
147 |
1.55e-22 |
SMART |
coiled coil region
|
304 |
333 |
N/A |
INTRINSIC |
|
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 does not contain a coiled coil region like some family members, and its exact function is unknown. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 11. [provided by RefSeq, Jun 2010]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahnak |
C |
T |
19: 8,986,689 (GRCm39) |
|
probably benign |
Het |
Asah1 |
A |
G |
8: 41,799,233 (GRCm39) |
|
probably benign |
Het |
Ces1d |
C |
A |
8: 93,896,346 (GRCm39) |
|
probably null |
Het |
Chd6 |
T |
C |
2: 160,859,936 (GRCm39) |
|
probably benign |
Het |
Chn2 |
G |
A |
6: 54,171,062 (GRCm39) |
R47Q |
probably benign |
Het |
Clmp |
A |
G |
9: 40,597,623 (GRCm39) |
|
probably benign |
Het |
Col11a1 |
G |
A |
3: 113,987,740 (GRCm39) |
G245R |
probably damaging |
Het |
Cyp4a32 |
T |
A |
4: 115,468,798 (GRCm39) |
S395T |
probably benign |
Het |
Dcc |
A |
T |
18: 71,460,625 (GRCm39) |
I1155K |
probably damaging |
Het |
Dpy19l4 |
G |
A |
4: 11,267,615 (GRCm39) |
H442Y |
probably damaging |
Het |
Dpys |
T |
C |
15: 39,687,612 (GRCm39) |
I395M |
probably damaging |
Het |
Dpysl2 |
T |
C |
14: 67,050,736 (GRCm39) |
K374E |
probably damaging |
Het |
Fryl |
A |
T |
5: 73,211,402 (GRCm39) |
D660E |
probably damaging |
Het |
Gabrb2 |
T |
C |
11: 42,482,771 (GRCm39) |
F210L |
probably damaging |
Het |
Gm4831 |
C |
T |
17: 37,422,879 (GRCm39) |
|
probably benign |
Het |
Igsf10 |
A |
T |
3: 59,243,632 (GRCm39) |
M234K |
probably benign |
Het |
Ints11 |
T |
C |
4: 155,956,581 (GRCm39) |
|
probably benign |
Het |
Mex3a |
T |
A |
3: 88,443,553 (GRCm39) |
S210T |
probably benign |
Het |
Or4k42 |
C |
T |
2: 111,320,289 (GRCm39) |
M71I |
probably benign |
Het |
Or4k52 |
G |
A |
2: 111,610,871 (GRCm39) |
V69I |
probably benign |
Het |
Pde1c |
A |
G |
6: 56,157,078 (GRCm39) |
V106A |
probably damaging |
Het |
Pitpnm3 |
G |
A |
11: 71,961,716 (GRCm39) |
Q284* |
probably null |
Het |
Pkd1l2 |
A |
G |
8: 117,722,548 (GRCm39) |
L2420P |
probably damaging |
Het |
Prpf39 |
A |
G |
12: 65,108,211 (GRCm39) |
|
probably benign |
Het |
Prss28 |
C |
T |
17: 25,528,669 (GRCm39) |
T37I |
probably benign |
Het |
Serpinb6c |
A |
T |
13: 34,079,369 (GRCm39) |
S108T |
probably benign |
Het |
Tex101 |
A |
T |
7: 24,367,758 (GRCm39) |
I198K |
probably damaging |
Het |
Thoc2l |
T |
G |
5: 104,668,334 (GRCm39) |
V952G |
probably damaging |
Het |
Thumpd2 |
T |
C |
17: 81,351,519 (GRCm39) |
|
probably benign |
Het |
Ubqln3 |
A |
C |
7: 103,791,763 (GRCm39) |
I109S |
probably benign |
Het |
Zfp212 |
A |
T |
6: 47,907,771 (GRCm39) |
N250I |
probably benign |
Het |
|
Other mutations in Snx7 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02593:Snx7
|
APN |
3 |
117,633,609 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02859:Snx7
|
APN |
3 |
117,623,320 (GRCm39) |
splice site |
probably benign |
|
IGL03260:Snx7
|
APN |
3 |
117,575,942 (GRCm39) |
utr 3 prime |
probably benign |
|
P0026:Snx7
|
UTSW |
3 |
117,633,672 (GRCm39) |
missense |
probably damaging |
1.00 |
R0620:Snx7
|
UTSW |
3 |
117,640,324 (GRCm39) |
missense |
probably damaging |
0.96 |
R0731:Snx7
|
UTSW |
3 |
117,623,320 (GRCm39) |
splice site |
probably benign |
|
R1613:Snx7
|
UTSW |
3 |
117,623,222 (GRCm39) |
splice site |
probably benign |
|
R1621:Snx7
|
UTSW |
3 |
117,630,805 (GRCm39) |
missense |
possibly damaging |
0.89 |
R1911:Snx7
|
UTSW |
3 |
117,623,317 (GRCm39) |
splice site |
probably null |
|
R1912:Snx7
|
UTSW |
3 |
117,623,317 (GRCm39) |
splice site |
probably null |
|
R3788:Snx7
|
UTSW |
3 |
117,632,639 (GRCm39) |
splice site |
probably benign |
|
R4663:Snx7
|
UTSW |
3 |
117,594,528 (GRCm39) |
missense |
probably benign |
0.00 |
R5182:Snx7
|
UTSW |
3 |
117,626,506 (GRCm39) |
missense |
probably damaging |
1.00 |
R5681:Snx7
|
UTSW |
3 |
117,640,272 (GRCm39) |
missense |
probably benign |
0.10 |
R6397:Snx7
|
UTSW |
3 |
117,640,272 (GRCm39) |
missense |
probably benign |
0.10 |
R6715:Snx7
|
UTSW |
3 |
117,575,985 (GRCm39) |
missense |
possibly damaging |
0.47 |
R6901:Snx7
|
UTSW |
3 |
117,623,285 (GRCm39) |
nonsense |
probably null |
|
R6996:Snx7
|
UTSW |
3 |
117,640,281 (GRCm39) |
missense |
possibly damaging |
0.82 |
R7049:Snx7
|
UTSW |
3 |
117,633,680 (GRCm39) |
missense |
possibly damaging |
0.57 |
R7372:Snx7
|
UTSW |
3 |
117,576,000 (GRCm39) |
missense |
probably damaging |
1.00 |
R7429:Snx7
|
UTSW |
3 |
117,630,861 (GRCm39) |
missense |
probably benign |
0.00 |
R7741:Snx7
|
UTSW |
3 |
117,632,488 (GRCm39) |
missense |
probably damaging |
1.00 |
R8025:Snx7
|
UTSW |
3 |
117,626,526 (GRCm39) |
missense |
probably benign |
|
R8098:Snx7
|
UTSW |
3 |
117,632,583 (GRCm39) |
missense |
probably benign |
0.00 |
R8125:Snx7
|
UTSW |
3 |
117,630,894 (GRCm39) |
missense |
probably damaging |
0.96 |
R9400:Snx7
|
UTSW |
3 |
117,630,863 (GRCm39) |
missense |
probably benign |
0.04 |
R9501:Snx7
|
UTSW |
3 |
117,632,611 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
Posted On |
2016-08-02 |