Incidental Mutation 'R4375:Snx9'
| ID |
325083 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Snx9
|
| Ensembl Gene |
ENSMUSG00000002365 |
| Gene Name |
sorting nexin 9 |
| Synonyms |
SH3PX1, SDP1 |
| MMRRC Submission |
041119-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.891)
|
| Stock # |
R4375 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
5891604-5982229 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 5958901 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Stop codon
at position 292
(W292*)
|
| 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 null
Transcript: ENSMUST00000002436
AA Change: W292*
|
| SMART Domains |
Protein: ENSMUSP00000002436
Gene: ENSMUSG00000002365
AA Change: W292*
| 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 |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
100% (37/37) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adhfe1 |
A |
T |
1: 9,631,853 (GRCm39) |
|
probably benign |
Het |
| Cd209c |
T |
C |
8: 4,004,635 (GRCm39) |
|
noncoding transcript |
Het |
| Cntnap1 |
A |
G |
11: 101,073,079 (GRCm39) |
D561G |
probably damaging |
Het |
| Csf1 |
T |
A |
3: 107,664,055 (GRCm39) |
T38S |
probably damaging |
Het |
| Cyp4b1 |
T |
C |
4: 115,493,510 (GRCm39) |
T191A |
probably benign |
Het |
| Dapk1 |
A |
T |
13: 60,909,403 (GRCm39) |
M1339L |
probably benign |
Het |
| Dpm3 |
T |
C |
3: 89,174,215 (GRCm39) |
Y59H |
probably damaging |
Het |
| Eif2ak4 |
A |
G |
2: 118,258,405 (GRCm39) |
Y585C |
probably damaging |
Het |
| Ercc1 |
G |
A |
7: 19,081,057 (GRCm39) |
|
probably benign |
Het |
| Fam184b |
T |
C |
5: 45,699,685 (GRCm39) |
D577G |
probably benign |
Het |
| Gon4l |
C |
A |
3: 88,814,694 (GRCm39) |
P1888T |
probably benign |
Het |
| Hsf2bp |
C |
T |
17: 32,206,322 (GRCm39) |
D270N |
probably null |
Het |
| Lactbl1 |
T |
C |
4: 136,364,902 (GRCm39) |
V418A |
possibly damaging |
Het |
| Lifr |
A |
T |
15: 7,196,379 (GRCm39) |
M188L |
probably benign |
Het |
| Ltbp1 |
G |
T |
17: 75,619,992 (GRCm39) |
G760V |
probably damaging |
Het |
| Marchf11 |
A |
G |
15: 26,309,532 (GRCm39) |
E62G |
probably damaging |
Het |
| Nlrp12 |
A |
G |
7: 3,289,576 (GRCm39) |
L312P |
possibly damaging |
Het |
| Or1l4 |
T |
A |
2: 37,091,574 (GRCm39) |
M107K |
probably benign |
Het |
| Or52ae7 |
T |
C |
7: 103,119,278 (GRCm39) |
S11P |
probably damaging |
Het |
| Or8c20 |
T |
C |
9: 38,260,465 (GRCm39) |
F23L |
probably benign |
Het |
| Pcdh17 |
T |
C |
14: 84,685,711 (GRCm39) |
V726A |
possibly damaging |
Het |
| Pdia4 |
G |
A |
6: 47,775,326 (GRCm39) |
R495W |
probably damaging |
Het |
| Phf20l1 |
T |
C |
15: 66,487,071 (GRCm39) |
S369P |
probably benign |
Het |
| Polq |
G |
T |
16: 36,833,543 (GRCm39) |
V79F |
probably damaging |
Het |
| Prcc |
A |
G |
3: 87,774,714 (GRCm39) |
Y363H |
probably damaging |
Het |
| Proser3 |
A |
G |
7: 30,240,096 (GRCm39) |
V336A |
possibly damaging |
Het |
| Rbbp8 |
C |
T |
18: 11,858,467 (GRCm39) |
T646M |
probably benign |
Het |
| Rgs1 |
T |
C |
1: 144,123,644 (GRCm39) |
T94A |
probably benign |
Het |
| Rpl11 |
G |
A |
4: 135,778,454 (GRCm39) |
|
probably benign |
Het |
| Slc14a2 |
G |
A |
18: 78,250,283 (GRCm39) |
R62C |
probably damaging |
Het |
| St14 |
T |
C |
9: 31,001,754 (GRCm39) |
I784V |
probably benign |
Het |
| Steep1 |
C |
A |
X: 36,087,812 (GRCm39) |
C206F |
probably benign |
Het |
| Strc |
A |
G |
2: 121,211,304 (GRCm39) |
S14P |
unknown |
Het |
| Ttc23l |
CT |
CTTGGATT |
15: 10,537,648 (GRCm39) |
|
probably benign |
Het |
| Ttc23l |
G |
A |
15: 10,537,652 (GRCm39) |
S206L |
probably benign |
Het |
| Ubap1 |
G |
A |
4: 41,371,850 (GRCm39) |
|
probably null |
Het |
| Zfr |
T |
C |
15: 12,118,426 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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'- AGGTTCCAAAATGTACGGTCTG -3'
(R):5'- GTAATTTCCACACTCAGGCCC -3'
Sequencing Primer
(F):5'- CGGTCTGAAGAGCTACATTGAGTATC -3'
(R):5'- AGGCCCAGTCTCTTCACAG -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation