Incidental Mutation 'PIT4495001:Snx9'
| ID |
555981 |
| Institutional Source |
Beutler Lab
|
| 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 # |
PIT4495001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
5891604-5982229 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 5970401 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 379
(I379K)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000002436
AA Change: I379K
PolyPhen 2
Score 0.542 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000002436
Gene: ENSMUSG00000002365
AA Change: I379K
| 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: 93.1%
- 3x: 90.6%
- 10x: 84.0%
- 20x: 69.8%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abl2 |
T |
A |
1: 156,460,755 (GRCm39) |
V384D |
probably damaging |
Het |
| Adamts7 |
A |
G |
9: 90,056,675 (GRCm39) |
E248G |
probably damaging |
Het |
| Aff1 |
A |
G |
5: 103,997,391 (GRCm39) |
T1162A |
probably benign |
Het |
| Ank3 |
C |
A |
10: 69,828,902 (GRCm39) |
H2524N |
|
Het |
| Aoc1l3 |
A |
T |
6: 48,964,710 (GRCm39) |
E239D |
possibly damaging |
Het |
| Cct7 |
T |
A |
6: 85,436,943 (GRCm39) |
N60K |
probably damaging |
Het |
| Cfap43 |
A |
C |
19: 47,885,741 (GRCm39) |
C291W |
probably damaging |
Het |
| Cobl |
G |
A |
11: 12,204,596 (GRCm39) |
T702I |
probably benign |
Het |
| Col5a1 |
C |
A |
2: 27,914,788 (GRCm39) |
Q1624K |
unknown |
Het |
| Cubn |
T |
A |
2: 13,496,561 (GRCm39) |
T22S |
probably benign |
Het |
| Def8 |
A |
C |
8: 124,186,292 (GRCm39) |
M344L |
probably benign |
Het |
| Fzd7 |
A |
G |
1: 59,523,466 (GRCm39) |
T450A |
probably benign |
Het |
| Gm11214 |
G |
A |
4: 63,580,922 (GRCm39) |
L76F |
probably benign |
Het |
| Gm5797 |
T |
C |
14: 7,329,530 (GRCm38) |
T153A |
probably benign |
Het |
| Gsk3a |
A |
C |
7: 24,935,064 (GRCm39) |
S129A |
probably damaging |
Het |
| Intu |
A |
G |
3: 40,652,033 (GRCm39) |
Q830R |
probably benign |
Het |
| Kcnma1 |
C |
T |
14: 23,475,665 (GRCm39) |
V750I |
probably benign |
Het |
| Mlh1 |
T |
A |
9: 111,076,328 (GRCm39) |
Y343F |
probably benign |
Het |
| Myb |
C |
T |
10: 21,028,521 (GRCm39) |
R114H |
probably damaging |
Het |
| Neb |
A |
T |
2: 52,102,748 (GRCm39) |
D4508E |
probably benign |
Het |
| Nell2 |
T |
C |
15: 95,281,608 (GRCm39) |
D366G |
probably benign |
Het |
| Or1o3 |
A |
C |
17: 37,573,721 (GRCm39) |
V278G |
possibly damaging |
Het |
| Or4d6 |
A |
G |
19: 12,086,076 (GRCm39) |
I52T |
possibly damaging |
Het |
| Or5ac25 |
A |
C |
16: 59,181,871 (GRCm39) |
F237V |
probably damaging |
Het |
| Or5h26 |
G |
T |
16: 58,988,337 (GRCm39) |
H56Q |
possibly damaging |
Het |
| Or7a38 |
T |
C |
10: 78,752,821 (GRCm39) |
V49A |
probably benign |
Het |
| Pcdhgc5 |
C |
T |
18: 37,954,030 (GRCm39) |
H435Y |
possibly damaging |
Het |
| Pira12 |
A |
T |
7: 3,900,457 (GRCm39) |
C98S |
probably damaging |
Het |
| Pnpla7 |
T |
A |
2: 24,932,151 (GRCm39) |
D935E |
probably damaging |
Het |
| Pole |
A |
G |
5: 110,451,780 (GRCm39) |
E874G |
probably damaging |
Het |
| Psd3 |
A |
C |
8: 68,416,565 (GRCm39) |
I158R |
probably benign |
Het |
| Pzp |
C |
A |
6: 128,479,192 (GRCm39) |
V654L |
probably benign |
Het |
| Rabep1 |
A |
G |
11: 70,808,405 (GRCm39) |
T454A |
probably damaging |
Het |
| Rad54l2 |
C |
A |
9: 106,593,343 (GRCm39) |
S419I |
probably benign |
Het |
| Rin3 |
A |
G |
12: 102,335,295 (GRCm39) |
D402G |
probably benign |
Het |
| Ripk4 |
T |
C |
16: 97,544,370 (GRCm39) |
H759R |
probably damaging |
Het |
| Rlig1 |
A |
T |
10: 100,419,812 (GRCm39) |
F90I |
probably damaging |
Het |
| Sbsn |
GAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCA |
GAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCA |
7: 30,452,391 (GRCm39) |
|
probably benign |
Het |
| Sf3a3 |
C |
T |
4: 124,622,113 (GRCm39) |
P391L |
probably damaging |
Het |
| Syt5 |
A |
C |
7: 4,544,077 (GRCm39) |
|
probably null |
Het |
| Tex47 |
A |
G |
5: 7,355,011 (GRCm39) |
D64G |
probably benign |
Het |
| Zbbx |
C |
A |
3: 74,968,944 (GRCm39) |
W509L |
probably damaging |
Het |
| Zer1 |
T |
C |
2: 29,993,555 (GRCm39) |
K551R |
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 |
|
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CGTTGCAAAAGAGATGTGCCTG -3'
(R):5'- ATGGAGCCTAACCTGCTGAG -3'
Sequencing Primer
(F):5'- AAAGAGATGTGCCTGAGTCTGTCC -3'
(R):5'- GGTGGACACCGTCTAACTG -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation