Incidental Mutation 'R5953:Snx9'
| ID |
471024 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Snx9
|
| Ensembl Gene |
ENSMUSG00000002365 |
| Gene Name |
sorting nexin 9 |
| Synonyms |
SH3PX1, SDP1 |
| MMRRC Submission |
043245-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.861)
|
| Stock # |
R5953 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
5841329-5931954 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 5908403 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Phenylalanine
at position 252
(C252F)
|
| 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: C252F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000002436
Gene: ENSMUSG00000002365
AA Change: C252F
| 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 |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.5%
|
| 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 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
T |
A |
7: 120,361,018 (GRCm38) |
S675T |
probably damaging |
Het |
| Acvr2a |
T |
C |
2: 48,890,404 (GRCm38) |
L212P |
probably damaging |
Het |
| Adamts14 |
T |
C |
10: 61,207,446 (GRCm38) |
T751A |
probably damaging |
Het |
| Adgrf2 |
T |
C |
17: 42,710,338 (GRCm38) |
N532D |
probably damaging |
Het |
| Asns |
T |
C |
6: 7,682,285 (GRCm38) |
E220G |
probably benign |
Het |
| Cd209d |
A |
T |
8: 3,877,979 (GRCm38) |
|
probably null |
Het |
| Cenpp |
T |
C |
13: 49,652,685 (GRCm38) |
D2G |
probably damaging |
Het |
| Cenps |
C |
A |
4: 149,130,201 (GRCm38) |
|
probably benign |
Het |
| Clec4a3 |
G |
T |
6: 122,969,492 (GRCm38) |
V232L |
probably benign |
Het |
| Cntln |
C |
T |
4: 85,049,919 (GRCm38) |
H792Y |
possibly damaging |
Het |
| Cobl |
T |
A |
11: 12,256,220 (GRCm38) |
T470S |
probably benign |
Het |
| Cym |
T |
A |
3: 107,213,467 (GRCm38) |
D274V |
probably damaging |
Het |
| Elac2 |
G |
A |
11: 64,999,223 (GRCm38) |
C627Y |
probably benign |
Het |
| Emc7 |
T |
A |
2: 112,459,558 (GRCm38) |
I111N |
probably damaging |
Het |
| Eya4 |
T |
A |
10: 23,151,973 (GRCm38) |
Y310F |
probably damaging |
Het |
| Fam217b |
C |
T |
2: 178,420,360 (GRCm38) |
S39F |
probably damaging |
Het |
| Fam234b |
G |
T |
6: 135,225,707 (GRCm38) |
R353L |
possibly damaging |
Het |
| Focad |
A |
G |
4: 88,229,335 (GRCm38) |
I404V |
probably benign |
Het |
| Il1rl1 |
T |
A |
1: 40,442,673 (GRCm38) |
D180E |
probably benign |
Het |
| Il2rb |
A |
T |
15: 78,484,982 (GRCm38) |
C256* |
probably null |
Het |
| Intu |
A |
C |
3: 40,679,550 (GRCm38) |
L404F |
probably damaging |
Het |
| Jmy |
G |
A |
13: 93,499,116 (GRCm38) |
T64M |
possibly damaging |
Het |
| Mpl |
C |
A |
4: 118,454,510 (GRCm38) |
S302I |
possibly damaging |
Het |
| Mpl |
T |
A |
4: 118,454,511 (GRCm38) |
S302C |
probably damaging |
Het |
| Muc2 |
G |
T |
7: 141,701,382 (GRCm38) |
D241Y |
probably damaging |
Het |
| Nlrp3 |
C |
T |
11: 59,546,791 (GRCm38) |
H99Y |
probably benign |
Het |
| Or5b118 |
A |
T |
19: 13,471,368 (GRCm38) |
I133F |
possibly damaging |
Het |
| Or6c216 |
C |
G |
10: 129,842,614 (GRCm38) |
V143L |
probably benign |
Het |
| Pglyrp1 |
A |
T |
7: 18,890,313 (GRCm38) |
I174F |
probably damaging |
Het |
| Pi4ka |
A |
T |
16: 17,281,951 (GRCm38) |
I1936N |
|
Het |
| Plekhm3 |
C |
T |
1: 64,937,895 (GRCm38) |
E139K |
probably damaging |
Het |
| Pomk |
C |
A |
8: 25,983,048 (GRCm38) |
L292F |
probably damaging |
Het |
| Ptpru |
A |
G |
4: 131,776,837 (GRCm38) |
I1103T |
probably damaging |
Het |
| Pygl |
T |
C |
12: 70,219,627 (GRCm38) |
D38G |
probably damaging |
Het |
| Rapsn |
T |
C |
2: 91,041,963 (GRCm38) |
V214A |
probably benign |
Het |
| S100a9 |
T |
A |
3: 90,692,927 (GRCm38) |
K54M |
probably damaging |
Het |
| Sdk2 |
A |
G |
11: 113,793,744 (GRCm38) |
Y1964H |
probably damaging |
Het |
| Slc17a5 |
T |
C |
9: 78,557,498 (GRCm38) |
N331S |
probably damaging |
Het |
| Trem1 |
A |
T |
17: 48,237,192 (GRCm38) |
M82L |
probably benign |
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 |
|
IGL02531:Snx9
|
APN |
17 |
5,891,820 (GRCm38) |
missense |
probably benign |
|
|
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 |
5,908,402 (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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TAAGTGGGTGCCAGTTCTCC -3'
(R):5'- CCAATCAAAGTGCTTATATCTGTGG -3'
Sequencing Primer
(F):5'- TGCCAGTTCTCCAGCAGG -3'
(R):5'- CGGTTAGTGTTCTACAAAATAAGGG -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation