Incidental Mutation 'IGL02531:Snx9'
| ID |
297299 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Snx9
|
| Ensembl Gene |
ENSMUSG00000002365 |
| Gene Name |
sorting nexin 9 |
| Synonyms |
SH3PX1, SDP1 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.861)
|
| Stock # |
IGL02531
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
5841329-5931954 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 5891820 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 74
(V74A)
|
| 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
AA Change: V74A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000002436
Gene: ENSMUSG00000002365
AA Change: V74A
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231803
|
| 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 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aak1 |
C |
A |
6: 86,956,447 (GRCm38) |
H467N |
unknown |
Het |
| Alb |
A |
G |
5: 90,467,448 (GRCm38) |
D273G |
probably damaging |
Het |
| Arap3 |
A |
G |
18: 37,989,751 (GRCm38) |
S531P |
probably damaging |
Het |
| Bmpr2 |
T |
A |
1: 59,845,714 (GRCm38) |
|
probably null |
Het |
| Chd7 |
G |
A |
4: 8,854,134 (GRCm38) |
R1902H |
probably damaging |
Het |
| Csgalnact1 |
C |
A |
8: 68,401,492 (GRCm38) |
G219V |
probably damaging |
Het |
| Cyp2b13 |
A |
T |
7: 26,061,605 (GRCm38) |
H29L |
possibly damaging |
Het |
| Enpp5 |
G |
T |
17: 44,080,952 (GRCm38) |
V91F |
probably damaging |
Het |
| Fam210b |
T |
C |
2: 172,352,755 (GRCm38) |
Y176H |
probably damaging |
Het |
| Fam83b |
T |
C |
9: 76,492,000 (GRCm38) |
E607G |
possibly damaging |
Het |
| Gm4788 |
T |
C |
1: 139,774,569 (GRCm38) |
K59R |
probably benign |
Het |
| Hhla1 |
C |
T |
15: 65,967,407 (GRCm38) |
|
probably benign |
Het |
| Kdm3b |
A |
G |
18: 34,795,729 (GRCm38) |
T178A |
probably benign |
Het |
| Klf1 |
T |
A |
8: 84,904,808 (GRCm38) |
F334I |
probably damaging |
Het |
| Klra8 |
A |
G |
6: 130,118,970 (GRCm38) |
S220P |
possibly damaging |
Het |
| Medag |
A |
G |
5: 149,422,151 (GRCm38) |
N99S |
probably benign |
Het |
| Muc6 |
T |
C |
7: 141,636,940 (GRCm38) |
T2607A |
possibly damaging |
Het |
| Mug2 |
T |
G |
6: 122,072,771 (GRCm38) |
L921R |
probably damaging |
Het |
| Nacad |
T |
C |
11: 6,598,580 (GRCm38) |
N1385D |
possibly damaging |
Het |
| Nin |
A |
G |
12: 70,020,932 (GRCm38) |
F1983L |
probably benign |
Het |
| Nipal4 |
T |
C |
11: 46,151,325 (GRCm38) |
I176M |
probably damaging |
Het |
| Orc6 |
T |
C |
8: 85,303,369 (GRCm38) |
S47P |
probably damaging |
Het |
| Ovch2 |
C |
T |
7: 107,790,198 (GRCm38) |
C341Y |
probably damaging |
Het |
| Polq |
T |
A |
16: 37,062,374 (GRCm38) |
H1633Q |
possibly damaging |
Het |
| Rab23 |
T |
C |
1: 33,738,280 (GRCm38) |
|
probably benign |
Het |
| Rai14 |
A |
G |
15: 10,574,782 (GRCm38) |
S697P |
probably damaging |
Het |
| Rnf213 |
T |
C |
11: 119,436,802 (GRCm38) |
F1872L |
probably benign |
Het |
| Sdhc |
T |
C |
1: 171,136,018 (GRCm38) |
H127R |
probably damaging |
Het |
| Spata31d1d |
A |
G |
13: 59,727,934 (GRCm38) |
S596P |
possibly damaging |
Het |
| Syt14 |
T |
C |
1: 192,901,934 (GRCm38) |
*78W |
probably null |
Het |
| Thoc1 |
A |
G |
18: 9,970,258 (GRCm38) |
T203A |
probably benign |
Het |
| Trmt13 |
A |
G |
3: 116,592,191 (GRCm38) |
|
probably null |
Het |
| Ttc28 |
A |
G |
5: 111,225,850 (GRCm38) |
I1020V |
probably damaging |
Het |
| Vmn2r16 |
A |
G |
5: 109,340,268 (GRCm38) |
T336A |
probably damaging |
Het |
|
| Other mutations in Snx9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00332:Snx9
|
APN |
17 |
5,899,361 (GRCm38) |
missense |
probably benign |
|
|
IGL00417:Snx9
|
APN |
17 |
5,891,897 (GRCm38) |
missense |
probably benign |
0.03 |
|
IGL01827:Snx9
|
APN |
17 |
5,887,012 (GRCm38) |
missense |
probably benign |
0.04 |
|
IGL02710:Snx9
|
APN |
17 |
5,908,598 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03088:Snx9
|
APN |
17 |
5,924,610 (GRCm38) |
missense |
probably benign |
|
|
san_angelo
|
UTSW |
17 |
5,891,809 (GRCm38) |
nonsense |
probably null |
|
|
PIT4495001:Snx9
|
UTSW |
17 |
5,920,126 (GRCm38) |
missense |
possibly damaging |
0.54 |
|
R0555:Snx9
|
UTSW |
17 |
5,918,413 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R1015:Snx9
|
UTSW |
17 |
5,920,127 (GRCm38) |
missense |
probably benign |
0.12 |
|
R1065:Snx9
|
UTSW |
17 |
5,902,361 (GRCm38) |
splice site |
probably benign |
|
|
R1421:Snx9
|
UTSW |
17 |
5,902,484 (GRCm38) |
missense |
probably benign |
0.45 |
|
R1657:Snx9
|
UTSW |
17 |
5,918,436 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R1823:Snx9
|
UTSW |
17 |
5,920,671 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1914:Snx9
|
UTSW |
17 |
5,928,256 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R3703:Snx9
|
UTSW |
17 |
5,928,200 (GRCm38) |
splice site |
probably null |
|
|
R3871:Snx9
|
UTSW |
17 |
5,891,781 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4375:Snx9
|
UTSW |
17 |
5,908,626 (GRCm38) |
nonsense |
probably null |
|
|
R4412:Snx9
|
UTSW |
17 |
5,908,394 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R4669:Snx9
|
UTSW |
17 |
5,927,224 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4974:Snx9
|
UTSW |
17 |
5,902,519 (GRCm38) |
splice site |
probably null |
|
|
R5038:Snx9
|
UTSW |
17 |
5,887,073 (GRCm38) |
missense |
probably benign |
0.12 |
|
R5137:Snx9
|
UTSW |
17 |
5,928,253 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5369:Snx9
|
UTSW |
17 |
5,920,580 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5459:Snx9
|
UTSW |
17 |
5,920,638 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5624:Snx9
|
UTSW |
17 |
5,891,809 (GRCm38) |
nonsense |
probably null |
|
|
R5847:Snx9
|
UTSW |
17 |
5,924,621 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R5953:Snx9
|
UTSW |
17 |
5,908,403 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5953:Snx9
|
UTSW |
17 |
5,908,402 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6263:Snx9
|
UTSW |
17 |
5,887,049 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6481:Snx9
|
UTSW |
17 |
5,922,209 (GRCm38) |
critical splice donor site |
probably null |
|
|
R6491:Snx9
|
UTSW |
17 |
5,920,162 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7873:Snx9
|
UTSW |
17 |
5,918,476 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R8471:Snx9
|
UTSW |
17 |
5,890,090 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9451:Snx9
|
UTSW |
17 |
5,899,493 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9748:Snx9
|
UTSW |
17 |
5,899,395 (GRCm38) |
missense |
probably benign |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation