Incidental Mutation 'R1065:Snx9'
| ID |
85978 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Snx9
|
| Ensembl Gene |
ENSMUSG00000002365 |
| Gene Name |
sorting nexin 9 |
| Synonyms |
SH3PX1, SDP1 |
| MMRRC Submission |
039151-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.868)
|
| Stock # |
R1065 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
5891604-5982229 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 5952636 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002436
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002436]
|
| AlphaFold |
Q91VH2 |
| PDB Structure |
Solution structure of the SH3 domain from mouse sorting nexin-9 [SOLUTION NMR]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002436
|
| SMART Domains |
Protein: ENSMUSP00000002436
Gene: ENSMUSG00000002365
| Domain | Start | End | E-Value | Type |
|---|
|
SH3
|
3 |
61 |
1.51e-16 |
SMART |
|
low complexity region
|
84 |
100 |
N/A |
INTRINSIC |
|
low complexity region
|
160 |
170 |
N/A |
INTRINSIC |
|
PX
|
247 |
357 |
4.15e-23 |
SMART |
|
Pfam:BAR_3_WASP_bdg
|
358 |
593 |
2.4e-120 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.5%
|
| Validation Efficiency |
97% (36/37) |
| 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 phosphoinositide binding domain, and are involved in intracellular trafficking. The encoded protein does not contain a coiled coil region, like some family members, but does contain a SRC homology domain near its N-terminus. The encoded protein is reported to have a variety of interaction partners, including of adaptor protein 2 , dynamin, tyrosine kinase non-receptor 2, Wiskott-Aldrich syndrome-like, and ARP3 actin-related protein 3. The encoded protein is implicated in several stages of intracellular trafficking, including endocytosis, macropinocytosis, and F-actin nucleation. [provided by RefSeq, Jul 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cd300ld2 |
T |
C |
11: 114,904,586 (GRCm39) |
T94A |
probably damaging |
Het |
| Cdc42bpg |
G |
A |
19: 6,372,856 (GRCm39) |
S1515N |
probably damaging |
Het |
| Ckb |
T |
C |
12: 111,637,681 (GRCm39) |
E150G |
probably benign |
Het |
| Clec2m |
A |
G |
6: 129,300,013 (GRCm39) |
I155T |
possibly damaging |
Het |
| Cobl |
T |
A |
11: 12,204,327 (GRCm39) |
M785L |
possibly damaging |
Het |
| Col6a5 |
T |
C |
9: 105,758,982 (GRCm39) |
N2075D |
probably damaging |
Het |
| Commd7 |
G |
C |
2: 153,461,447 (GRCm39) |
|
probably benign |
Het |
| Corin |
G |
A |
5: 72,458,993 (GRCm39) |
R927* |
probably null |
Het |
| Dync2i1 |
C |
T |
12: 116,219,696 (GRCm39) |
R82H |
probably damaging |
Het |
| Ift122 |
A |
T |
6: 115,852,286 (GRCm39) |
|
probably null |
Het |
| Il1b |
G |
A |
2: 129,209,927 (GRCm39) |
T83I |
probably benign |
Het |
| Ints4 |
T |
C |
7: 97,157,099 (GRCm39) |
|
probably null |
Het |
| Msh6 |
T |
G |
17: 88,295,891 (GRCm39) |
|
probably benign |
Het |
| Mtmr3 |
T |
C |
11: 4,442,859 (GRCm39) |
K392E |
probably damaging |
Het |
| Or5t9 |
A |
G |
2: 86,659,888 (GRCm39) |
H264R |
probably damaging |
Het |
| Pde3a |
T |
C |
6: 141,422,458 (GRCm39) |
|
probably benign |
Het |
| Pde6h |
A |
C |
6: 136,936,368 (GRCm39) |
K37T |
probably damaging |
Het |
| Plat |
C |
A |
8: 23,266,879 (GRCm39) |
D290E |
probably damaging |
Het |
| Polk |
A |
C |
13: 96,644,760 (GRCm39) |
L122R |
probably damaging |
Het |
| Ppp1r3g |
T |
A |
13: 36,153,418 (GRCm39) |
D279E |
probably benign |
Het |
| Ptpru |
T |
C |
4: 131,535,651 (GRCm39) |
E370G |
possibly damaging |
Het |
| Ralgapa2 |
T |
C |
2: 146,292,478 (GRCm39) |
Y187C |
probably benign |
Het |
| Rps6ka2 |
C |
T |
17: 7,549,157 (GRCm39) |
|
probably benign |
Het |
| Slit3 |
T |
C |
11: 35,012,462 (GRCm39) |
S41P |
possibly damaging |
Het |
| Smarca5 |
A |
T |
8: 81,431,343 (GRCm39) |
L958Q |
probably damaging |
Het |
| Stkld1 |
A |
T |
2: 26,830,050 (GRCm39) |
N72I |
probably damaging |
Het |
| Strc |
C |
A |
2: 121,197,132 (GRCm39) |
D1532Y |
probably damaging |
Het |
| Sucla2 |
C |
T |
14: 73,798,074 (GRCm39) |
|
probably benign |
Het |
| Svil |
T |
G |
18: 5,063,777 (GRCm39) |
|
probably benign |
Het |
| Traf3ip1 |
T |
A |
1: 91,428,506 (GRCm39) |
D122E |
unknown |
Het |
| Vmn2r7 |
A |
T |
3: 64,614,559 (GRCm39) |
D509E |
possibly damaging |
Het |
| Vps52 |
C |
A |
17: 34,180,213 (GRCm39) |
Q306K |
probably benign |
Het |
| Zfp407 |
C |
T |
18: 84,577,898 (GRCm39) |
A1072T |
probably benign |
Het |
| Zfp418 |
C |
A |
7: 7,184,561 (GRCm39) |
Q175K |
probably benign |
Het |
| Zxdc |
T |
C |
6: 90,355,885 (GRCm39) |
S465P |
probably damaging |
Het |
|
| Other mutations in Snx9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00332:Snx9
|
APN |
17 |
5,949,636 (GRCm39) |
missense |
probably benign |
|
|
IGL00417:Snx9
|
APN |
17 |
5,942,172 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01827:Snx9
|
APN |
17 |
5,937,287 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02531:Snx9
|
APN |
17 |
5,942,095 (GRCm39) |
missense |
probably benign |
|
|
IGL02710:Snx9
|
APN |
17 |
5,958,873 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03088:Snx9
|
APN |
17 |
5,974,885 (GRCm39) |
missense |
probably benign |
|
|
san_angelo
|
UTSW |
17 |
5,942,084 (GRCm39) |
nonsense |
probably null |
|
|
PIT4495001:Snx9
|
UTSW |
17 |
5,970,401 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R0555:Snx9
|
UTSW |
17 |
5,968,688 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1015:Snx9
|
UTSW |
17 |
5,970,402 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1421:Snx9
|
UTSW |
17 |
5,952,759 (GRCm39) |
missense |
probably benign |
0.45 |
|
R1657:Snx9
|
UTSW |
17 |
5,968,711 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R1823:Snx9
|
UTSW |
17 |
5,970,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1914:Snx9
|
UTSW |
17 |
5,978,531 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R3703:Snx9
|
UTSW |
17 |
5,978,475 (GRCm39) |
splice site |
probably null |
|
|
R3871:Snx9
|
UTSW |
17 |
5,942,056 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4375:Snx9
|
UTSW |
17 |
5,958,901 (GRCm39) |
nonsense |
probably null |
|
|
R4412:Snx9
|
UTSW |
17 |
5,958,669 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4669:Snx9
|
UTSW |
17 |
5,977,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4974:Snx9
|
UTSW |
17 |
5,952,794 (GRCm39) |
splice site |
probably null |
|
|
R5038:Snx9
|
UTSW |
17 |
5,937,348 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5137:Snx9
|
UTSW |
17 |
5,978,528 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5369:Snx9
|
UTSW |
17 |
5,970,855 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5459:Snx9
|
UTSW |
17 |
5,970,913 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5624:Snx9
|
UTSW |
17 |
5,942,084 (GRCm39) |
nonsense |
probably null |
|
|
R5847:Snx9
|
UTSW |
17 |
5,974,896 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5953:Snx9
|
UTSW |
17 |
5,958,678 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5953:Snx9
|
UTSW |
17 |
5,958,677 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6263:Snx9
|
UTSW |
17 |
5,937,324 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6481:Snx9
|
UTSW |
17 |
5,972,484 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6491:Snx9
|
UTSW |
17 |
5,970,437 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7873:Snx9
|
UTSW |
17 |
5,968,751 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8471:Snx9
|
UTSW |
17 |
5,940,365 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9451:Snx9
|
UTSW |
17 |
5,949,768 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9748:Snx9
|
UTSW |
17 |
5,949,670 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCTTAATGCCGACTGCAAAGCCTG -3'
(R):5'- TTCTTACATTGCACGCACGCAC -3'
Sequencing Primer
(F):5'- TGCAAAGCCTGTGCTCTAAAG -3'
(R):5'- acacacacacacacacacac -3'
|
| Posted On |
2013-11-18 |
Incidental Mutation