Incidental Mutation 'IGL02593:Snx7'
| ID |
299780 |
| 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 # |
IGL02593
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
117575296-117662585 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 117633609 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 84
(L84F)
|
| 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: L142F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029639
Gene: ENSMUSG00000028007
AA Change: L142F
| 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 damaging
Transcript: ENSMUST00000167877
AA Change: L114F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125804
Gene: ENSMUSG00000028007
AA Change: L114F
| 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: L133F
|
| SMART Domains |
Protein: ENSMUSP00000128007
Gene: ENSMUSG00000028007
AA Change: L133F
| 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: L84F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143230
Gene: ENSMUSG00000028007
AA Change: L84F
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahsg |
G |
T |
16: 22,711,078 (GRCm39) |
|
probably null |
Het |
| Bbs4 |
C |
T |
9: 59,235,880 (GRCm39) |
D232N |
probably damaging |
Het |
| Cdh23 |
A |
T |
10: 60,301,774 (GRCm39) |
|
probably benign |
Het |
| Cntn5 |
T |
C |
9: 9,833,504 (GRCm39) |
N554S |
probably damaging |
Het |
| Fn1 |
T |
C |
1: 71,641,591 (GRCm39) |
I1652V |
probably benign |
Het |
| Golga4 |
T |
C |
9: 118,384,634 (GRCm39) |
|
probably benign |
Het |
| Idh3a |
T |
A |
9: 54,503,477 (GRCm39) |
|
probably benign |
Het |
| Jph2 |
T |
C |
2: 163,239,166 (GRCm39) |
Y94C |
probably damaging |
Het |
| Lnx2 |
A |
G |
5: 146,969,825 (GRCm39) |
S238P |
possibly damaging |
Het |
| Loxhd1 |
A |
G |
18: 77,498,235 (GRCm39) |
I56V |
possibly damaging |
Het |
| Myo9b |
A |
C |
8: 71,743,417 (GRCm39) |
E159D |
probably damaging |
Het |
| Nkiras1 |
A |
G |
14: 18,278,475 (GRCm38) |
N63S |
possibly damaging |
Het |
| Nnmt |
A |
G |
9: 48,516,103 (GRCm39) |
|
probably null |
Het |
| Or13a22 |
G |
A |
7: 140,073,244 (GRCm39) |
R231H |
probably benign |
Het |
| P2ry10 |
T |
C |
X: 106,146,302 (GRCm39) |
I79T |
possibly damaging |
Het |
| Padi2 |
A |
G |
4: 140,677,153 (GRCm39) |
H647R |
probably damaging |
Het |
| Pate10 |
T |
A |
9: 35,653,438 (GRCm39) |
C81S |
possibly damaging |
Het |
| Ptchd4 |
A |
G |
17: 42,628,037 (GRCm39) |
D166G |
probably benign |
Het |
| Scml2 |
T |
C |
X: 159,970,305 (GRCm39) |
V125A |
probably benign |
Het |
| Senp2 |
A |
G |
16: 21,863,021 (GRCm39) |
D556G |
probably damaging |
Het |
| Serpina3a |
G |
T |
12: 104,084,691 (GRCm39) |
V29L |
probably benign |
Het |
| Sgcz |
A |
T |
8: 37,990,432 (GRCm39) |
I307N |
probably damaging |
Het |
| Slc25a13 |
C |
T |
6: 6,042,265 (GRCm39) |
V638I |
probably benign |
Het |
| Ticrr |
A |
G |
7: 79,345,214 (GRCm39) |
D1693G |
probably damaging |
Het |
| Tm9sf5 |
G |
A |
X: 56,467,320 (GRCm39) |
D245N |
probably benign |
Het |
| Vmn2r7 |
C |
T |
3: 64,600,443 (GRCm39) |
C485Y |
probably damaging |
Het |
| Vmn2r-ps129 |
C |
T |
17: 23,211,770 (GRCm39) |
|
noncoding transcript |
Het |
| Zfyve9 |
A |
G |
4: 108,539,420 (GRCm39) |
V951A |
possibly damaging |
Het |
|
| Other mutations in Snx7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
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 |
2015-04-16 |
Incidental Mutation