Incidental Mutation 'IGL02710:Snx9'
| ID |
304518 |
| 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: 0.868)
|
| Stock # |
IGL02710
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
5891604-5982229 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 5958873 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 283
(V283A)
|
| 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 damaging
Transcript: ENSMUST00000002436
AA Change: V283A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000002436
Gene: ENSMUSG00000002365
AA Change: V283A
| 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 |
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aox1 |
T |
G |
1: 58,373,928 (GRCm39) |
|
probably null |
Het |
| Col18a1 |
G |
A |
10: 76,949,146 (GRCm39) |
A122V |
possibly damaging |
Het |
| Dnai3 |
A |
T |
3: 145,753,903 (GRCm39) |
I719N |
possibly damaging |
Het |
| Dtnb |
T |
A |
12: 3,698,380 (GRCm39) |
H289Q |
possibly damaging |
Het |
| Fat4 |
A |
T |
3: 38,944,744 (GRCm39) |
K1212N |
probably damaging |
Het |
| Gm10392 |
T |
C |
11: 77,409,294 (GRCm39) |
H44R |
possibly damaging |
Het |
| Herc2 |
G |
A |
7: 55,787,562 (GRCm39) |
A1740T |
possibly damaging |
Het |
| Ifna1 |
A |
G |
4: 88,768,523 (GRCm39) |
D67G |
probably benign |
Het |
| Knl1 |
A |
C |
2: 118,901,411 (GRCm39) |
E1037D |
probably damaging |
Het |
| Lsg1 |
A |
T |
16: 30,390,292 (GRCm39) |
D274E |
probably benign |
Het |
| Msantd3 |
A |
G |
4: 48,552,686 (GRCm39) |
K92E |
probably damaging |
Het |
| Nap1l4 |
G |
A |
7: 143,077,998 (GRCm39) |
T312I |
probably benign |
Het |
| Nlrp3 |
A |
G |
11: 59,456,802 (GRCm39) |
E988G |
probably damaging |
Het |
| Or11g2 |
C |
T |
14: 50,856,255 (GRCm39) |
T192I |
probably benign |
Het |
| Palm3 |
C |
T |
8: 84,754,941 (GRCm39) |
T151I |
possibly damaging |
Het |
| Pde1b |
T |
C |
15: 103,430,484 (GRCm39) |
W144R |
probably damaging |
Het |
| Piezo2 |
A |
G |
18: 63,207,730 (GRCm39) |
L1427P |
probably damaging |
Het |
| Rasal1 |
A |
T |
5: 120,804,496 (GRCm39) |
H456L |
possibly damaging |
Het |
| Sec16a |
C |
T |
2: 26,320,142 (GRCm39) |
G1432D |
possibly damaging |
Het |
| Shc1 |
A |
G |
3: 89,331,917 (GRCm39) |
|
probably null |
Het |
| Skint5 |
T |
A |
4: 113,335,156 (GRCm39) |
I1452F |
unknown |
Het |
| Slc35b4 |
C |
A |
6: 34,135,476 (GRCm39) |
V279L |
probably benign |
Het |
| Stra6l |
T |
C |
4: 45,882,728 (GRCm39) |
F480L |
possibly damaging |
Het |
| Stt3a |
A |
G |
9: 36,670,041 (GRCm39) |
Y132H |
probably damaging |
Het |
| Sv2c |
T |
A |
13: 96,125,649 (GRCm39) |
I363F |
probably damaging |
Het |
| Tnfrsf21 |
C |
T |
17: 43,398,820 (GRCm39) |
T642I |
probably damaging |
Het |
| Tubgcp2 |
G |
A |
7: 139,584,897 (GRCm39) |
|
probably benign |
Het |
| Usp47 |
A |
G |
7: 111,692,132 (GRCm39) |
N845D |
probably benign |
Het |
| Wdr20 |
A |
T |
12: 110,759,544 (GRCm39) |
|
probably benign |
Het |
| Zfp518b |
A |
G |
5: 38,830,061 (GRCm39) |
V648A |
probably damaging |
Het |
| Zfp687 |
A |
T |
3: 94,916,084 (GRCm39) |
S927T |
probably benign |
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 |
|
|
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 |
|
R1065:Snx9
|
UTSW |
17 |
5,952,636 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation