Incidental Mutation 'P0026:Snx7'
| ID |
8178 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Snx7
|
| Ensembl Gene |
ENSMUSG00000028007 |
| Gene Name |
sorting nexin 7 |
| Synonyms |
|
| MMRRC Submission |
038279-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.097)
|
| Stock # |
P0026 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
117575296-117662585 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 117633672 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 63
(F63I)
|
| 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: F121I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029639
Gene: ENSMUSG00000028007
AA Change: F121I
| 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: F93I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125804
Gene: ENSMUSG00000028007
AA Change: F93I
| 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: F112I
|
| SMART Domains |
Protein: ENSMUSP00000128007
Gene: ENSMUSG00000028007
AA Change: F112I
| 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: F63I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143230
Gene: ENSMUSG00000028007
AA Change: F63I
| Domain | Start | End | E-Value | Type |
|---|
|
PX
|
27 |
147 |
1.55e-22 |
SMART |
|
coiled coil region
|
304 |
333 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.3532 |
| Coding Region Coverage |
- 1x: 85.6%
- 3x: 78.9%
- 10x: 59.5%
- 20x: 38.1%
|
| Validation Efficiency |
97% (63/65) |
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi2 |
A |
G |
1: 60,492,882 (GRCm39) |
N182D |
probably benign |
Het |
| Acad10 |
T |
C |
5: 121,775,415 (GRCm39) |
Y429C |
probably damaging |
Het |
| Aifm3 |
A |
T |
16: 17,324,981 (GRCm39) |
|
probably benign |
Het |
| Bud13 |
A |
G |
9: 46,199,656 (GRCm39) |
H339R |
probably benign |
Het |
| Cpa1 |
T |
A |
6: 30,640,905 (GRCm39) |
M132K |
probably damaging |
Het |
| Dapk1 |
T |
A |
13: 60,865,963 (GRCm39) |
|
probably benign |
Het |
| Dchs1 |
A |
T |
7: 105,407,612 (GRCm39) |
N2073K |
probably damaging |
Het |
| Dnah2 |
A |
T |
11: 69,355,773 (GRCm39) |
N2227K |
probably damaging |
Het |
| Dnpep |
C |
T |
1: 75,285,329 (GRCm39) |
V468I |
probably benign |
Het |
| Elf3 |
A |
G |
1: 135,183,711 (GRCm39) |
|
probably null |
Het |
| Fam124a |
T |
G |
14: 62,843,571 (GRCm39) |
L360V |
probably damaging |
Het |
| Fam20a |
A |
T |
11: 109,566,667 (GRCm39) |
|
probably null |
Het |
| Fermt3 |
A |
G |
19: 6,991,792 (GRCm39) |
S140P |
probably damaging |
Het |
| Gm10440 |
T |
C |
5: 54,513,511 (GRCm39) |
|
noncoding transcript |
Het |
| Il12rb1 |
A |
G |
8: 71,265,185 (GRCm39) |
D167G |
probably damaging |
Het |
| Ints8 |
T |
A |
4: 11,225,788 (GRCm39) |
K590* |
probably null |
Het |
| Kcnu1 |
T |
C |
8: 26,382,150 (GRCm39) |
F500S |
probably damaging |
Het |
| Mrm3 |
T |
C |
11: 76,138,326 (GRCm39) |
V238A |
probably damaging |
Het |
| Rap1gap2 |
A |
G |
11: 74,458,036 (GRCm39) |
|
probably benign |
Het |
| Rusc2 |
T |
A |
4: 43,415,840 (GRCm39) |
V382E |
possibly damaging |
Het |
| Slc9a5 |
A |
G |
8: 106,081,923 (GRCm39) |
N216S |
probably damaging |
Het |
| Syne2 |
A |
G |
12: 75,926,994 (GRCm39) |
|
probably benign |
Het |
| Tenm4 |
T |
C |
7: 96,523,734 (GRCm39) |
Y1751H |
probably damaging |
Het |
| Trappc9 |
G |
A |
15: 72,824,931 (GRCm39) |
P366S |
probably damaging |
Het |
| Trim17 |
A |
G |
11: 58,862,084 (GRCm39) |
D372G |
possibly damaging |
Het |
| Zfp354a |
G |
A |
11: 50,952,325 (GRCm39) |
G85R |
probably null |
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 |
|
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 |
2012-11-20 |
Incidental Mutation