Incidental Mutation 'IGL02859:Snx7'
| ID |
362106 |
| 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: 0.107)
|
| Stock # |
IGL02859
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
117575296-117662585 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 117623320 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143230
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029639]
[ENSMUST00000167877]
[ENSMUST00000198499]
|
| AlphaFold |
Q9CY18 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029639
|
| SMART Domains |
Protein: ENSMUSP00000029639
Gene: ENSMUSG00000028007
| 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 |
probably benign
Transcript: ENSMUST00000169812
|
| SMART Domains |
Protein: ENSMUSP00000128007
Gene: ENSMUSG00000028007
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
30 |
43 |
N/A |
INTRINSIC |
|
PX
|
77 |
197 |
1.55e-22 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196421
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198499
|
| SMART Domains |
Protein: ENSMUSP00000143230
Gene: ENSMUSG00000028007
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
A |
T |
13: 77,415,818 (GRCm39) |
Y637F |
possibly damaging |
Het |
| Abcc4 |
A |
G |
14: 118,753,912 (GRCm39) |
I1025T |
probably damaging |
Het |
| Adam22 |
C |
A |
5: 8,217,375 (GRCm39) |
R140L |
probably damaging |
Het |
| Ahdc1 |
C |
A |
4: 132,790,003 (GRCm39) |
L415I |
possibly damaging |
Het |
| Ahdc1 |
T |
A |
4: 132,790,004 (GRCm39) |
L415H |
probably damaging |
Het |
| Bivm |
C |
A |
1: 44,176,159 (GRCm39) |
S305* |
probably null |
Het |
| Clca4b |
C |
T |
3: 144,617,800 (GRCm39) |
D768N |
probably benign |
Het |
| Cobl |
T |
A |
11: 12,319,602 (GRCm39) |
N31Y |
probably damaging |
Het |
| Col4a5 |
G |
A |
X: 140,392,846 (GRCm39) |
C484Y |
unknown |
Het |
| Ctnnd1 |
T |
C |
2: 84,450,253 (GRCm39) |
|
probably benign |
Het |
| Dnah5 |
A |
G |
15: 28,383,771 (GRCm39) |
T2998A |
probably benign |
Het |
| Dnah9 |
T |
A |
11: 65,772,445 (GRCm39) |
|
probably benign |
Het |
| F2 |
T |
C |
2: 91,456,087 (GRCm39) |
D558G |
probably damaging |
Het |
| Gle1 |
T |
A |
2: 29,839,240 (GRCm39) |
W511R |
probably damaging |
Het |
| Gm11564 |
C |
T |
11: 99,705,953 (GRCm39) |
S159N |
unknown |
Het |
| Htr6 |
A |
G |
4: 138,801,745 (GRCm39) |
C110R |
probably damaging |
Het |
| Ikbke |
T |
A |
1: 131,197,934 (GRCm39) |
S391C |
probably damaging |
Het |
| Itgae |
T |
C |
11: 73,005,693 (GRCm39) |
F286L |
probably damaging |
Het |
| Kcnb2 |
A |
T |
1: 15,780,730 (GRCm39) |
H534L |
probably damaging |
Het |
| Map1b |
T |
C |
13: 99,569,544 (GRCm39) |
Y1059C |
unknown |
Het |
| Mul1 |
A |
G |
4: 138,165,660 (GRCm39) |
T106A |
probably damaging |
Het |
| Nf2 |
T |
A |
11: 4,741,209 (GRCm39) |
E249V |
probably damaging |
Het |
| Nlrp1a |
T |
C |
11: 70,996,912 (GRCm39) |
S965G |
possibly damaging |
Het |
| Nrn1 |
C |
A |
13: 36,914,080 (GRCm39) |
|
probably null |
Het |
| Optc |
T |
C |
1: 133,829,799 (GRCm39) |
T204A |
probably damaging |
Het |
| Or51f1d |
T |
C |
7: 102,701,345 (GRCm39) |
V280A |
probably benign |
Het |
| Or8k37 |
T |
C |
2: 86,469,992 (GRCm39) |
N20S |
probably benign |
Het |
| Pcnx2 |
C |
T |
8: 126,589,912 (GRCm39) |
R787Q |
probably damaging |
Het |
| Pim1 |
G |
A |
17: 29,710,909 (GRCm39) |
E171K |
probably damaging |
Het |
| Pnpt1 |
T |
C |
11: 29,088,162 (GRCm39) |
V191A |
probably damaging |
Het |
| Rbbp8 |
G |
A |
18: 11,871,671 (GRCm39) |
R796Q |
probably benign |
Het |
| Serpinb9e |
A |
G |
13: 33,435,633 (GRCm39) |
D22G |
possibly damaging |
Het |
| Sit1 |
C |
T |
4: 43,482,831 (GRCm39) |
M109I |
probably benign |
Het |
| Slc17a8 |
A |
G |
10: 89,412,446 (GRCm39) |
V329A |
probably benign |
Het |
| Smg1 |
T |
A |
7: 117,748,156 (GRCm39) |
|
probably benign |
Het |
| Stat2 |
A |
T |
10: 128,112,480 (GRCm39) |
E40V |
probably damaging |
Het |
| Vegfa |
C |
T |
17: 46,335,421 (GRCm39) |
S291N |
probably benign |
Het |
| Vmn1r61 |
G |
T |
7: 5,614,288 (GRCm39) |
L9I |
probably benign |
Het |
| Wbp4 |
T |
C |
14: 79,708,129 (GRCm39) |
K163E |
probably damaging |
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 |
|
IGL03260:Snx7
|
APN |
3 |
117,575,942 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL03357:Snx7
|
APN |
3 |
117,632,524 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2015-12-18 |
Incidental Mutation