Incidental Mutation 'R1621:Snx7'
ID |
174650 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Snx7
|
Ensembl Gene |
ENSMUSG00000028007 |
Gene Name |
sorting nexin 7 |
Synonyms |
|
MMRRC Submission |
039658-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.097)
|
Stock # |
R1621 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
117575296-117662585 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 117630805 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 185
(I185V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125804
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029639]
[ENSMUST00000167877]
[ENSMUST00000198499]
|
AlphaFold |
Q9CY18 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029639
AA Change: I268V
PolyPhen 2
Score 0.460 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000029639 Gene: ENSMUSG00000028007 AA Change: I268V
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 |
possibly damaging
Transcript: ENSMUST00000167877
AA Change: I185V
PolyPhen 2
Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000125804 Gene: ENSMUSG00000028007 AA Change: I185V
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: I259V
|
SMART Domains |
Protein: ENSMUSP00000128007 Gene: ENSMUSG00000028007 AA Change: I259V
Domain | Start | End | E-Value | Type |
low complexity region
|
30 |
43 |
N/A |
INTRINSIC |
PX
|
77 |
197 |
1.55e-22 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000198499
AA Change: I210V
PolyPhen 2
Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000143230 Gene: ENSMUSG00000028007 AA Change: I210V
Domain | Start | End | E-Value | Type |
PX
|
27 |
147 |
1.55e-22 |
SMART |
coiled coil region
|
304 |
333 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 94.0%
- 20x: 84.5%
|
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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actl6b |
A |
G |
5: 137,564,041 (GRCm39) |
N253S |
probably benign |
Het |
Adamts3 |
G |
A |
5: 89,869,560 (GRCm39) |
H272Y |
probably damaging |
Het |
Arpc5l |
T |
C |
2: 38,903,913 (GRCm39) |
|
probably null |
Het |
Birc6 |
G |
A |
17: 74,977,245 (GRCm39) |
V4333I |
probably benign |
Het |
Cd38 |
A |
G |
5: 44,058,866 (GRCm39) |
D160G |
probably benign |
Het |
Cdc7 |
A |
G |
5: 107,112,920 (GRCm39) |
S13G |
probably benign |
Het |
Chrm5 |
G |
T |
2: 112,310,182 (GRCm39) |
D311E |
probably benign |
Het |
Ctns |
A |
G |
11: 73,079,298 (GRCm39) |
V140A |
possibly damaging |
Het |
Ets2 |
A |
G |
16: 95,510,913 (GRCm39) |
D57G |
probably damaging |
Het |
Fbxo36 |
T |
A |
1: 84,817,595 (GRCm39) |
M1K |
probably null |
Het |
Fhod3 |
T |
A |
18: 25,155,924 (GRCm39) |
I514K |
probably benign |
Het |
G3bp2 |
A |
T |
5: 92,204,137 (GRCm39) |
F350I |
probably damaging |
Het |
Hs3st3a1 |
G |
T |
11: 64,327,049 (GRCm39) |
V53F |
probably benign |
Het |
Ippk |
T |
C |
13: 49,615,044 (GRCm39) |
S427P |
probably benign |
Het |
Irgm2 |
T |
C |
11: 58,111,364 (GRCm39) |
F364L |
probably benign |
Het |
Lipn |
A |
G |
19: 34,046,113 (GRCm39) |
K29E |
probably benign |
Het |
Map3k11 |
A |
G |
19: 5,740,834 (GRCm39) |
E187G |
probably damaging |
Het |
Nrxn3 |
A |
G |
12: 88,762,480 (GRCm39) |
M176V |
probably benign |
Het |
Or2z9 |
A |
G |
8: 72,853,973 (GRCm39) |
Y123C |
probably damaging |
Het |
Palm3 |
G |
A |
8: 84,756,651 (GRCm39) |
S721N |
possibly damaging |
Het |
Plxnb1 |
A |
G |
9: 108,935,873 (GRCm39) |
I1088V |
probably benign |
Het |
Pmfbp1 |
A |
G |
8: 110,226,170 (GRCm39) |
H69R |
probably benign |
Het |
Pou2af1 |
C |
T |
9: 51,144,160 (GRCm39) |
H54Y |
probably damaging |
Het |
Prl6a1 |
C |
T |
13: 27,501,993 (GRCm39) |
T120I |
probably benign |
Het |
Psen2 |
A |
T |
1: 180,057,030 (GRCm39) |
F331L |
probably benign |
Het |
Pygl |
T |
C |
12: 70,237,866 (GRCm39) |
D724G |
probably damaging |
Het |
Slc25a48 |
T |
A |
13: 56,618,283 (GRCm39) |
*307R |
probably null |
Het |
Slc39a6 |
T |
C |
18: 24,733,946 (GRCm39) |
K248E |
probably benign |
Het |
Slco4a1 |
A |
T |
2: 180,112,925 (GRCm39) |
T386S |
probably benign |
Het |
Tmem94 |
A |
G |
11: 115,676,671 (GRCm39) |
S59G |
probably benign |
Het |
Top3a |
A |
T |
11: 60,641,433 (GRCm39) |
I392N |
probably damaging |
Het |
Utp20 |
A |
G |
10: 88,598,733 (GRCm39) |
I81T |
probably benign |
Het |
Utrn |
A |
G |
10: 12,589,027 (GRCm39) |
L893S |
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 |
|
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CTCTCTGTGTGAGCGGGTGC -3'
(R):5'- GCTTGCTGAGCAGGATGGGAC -3'
Sequencing Primer
(F):5'- tgtaggtgtggggtggag -3'
(R):5'- CAGACAGTCCGAGCAGTG -3'
|
Posted On |
2014-04-24 |