Incidental Mutation 'R1657:Snx9'
| ID |
186492 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Snx9
|
| Ensembl Gene |
ENSMUSG00000002365 |
| Gene Name |
sorting nexin 9 |
| Synonyms |
SH3PX1, SDP1 |
| MMRRC Submission |
039693-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.891)
|
| Stock # |
R1657 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
5891604-5982229 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 5968711 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Proline
at position 336
(T336P)
|
| 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: T336P
PolyPhen 2
Score 0.647 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000002436
Gene: ENSMUSG00000002365
AA Change: T336P
| 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: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.2%
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
T |
G |
11: 84,154,910 (GRCm39) |
D988E |
probably benign |
Het |
| Als2 |
A |
G |
1: 59,219,760 (GRCm39) |
V1185A |
probably damaging |
Het |
| Amdhd2 |
A |
G |
17: 24,375,029 (GRCm39) |
V391A |
probably damaging |
Het |
| Armh4 |
G |
C |
14: 50,011,017 (GRCm39) |
T230S |
probably damaging |
Het |
| Caprin1 |
A |
T |
2: 103,599,851 (GRCm39) |
V608E |
probably damaging |
Het |
| Celsr3 |
T |
A |
9: 108,720,151 (GRCm39) |
C2512* |
probably null |
Het |
| Cfl1 |
A |
T |
19: 5,543,583 (GRCm39) |
R187W |
probably damaging |
Het |
| Cgnl1 |
C |
T |
9: 71,633,226 (GRCm39) |
V42I |
probably damaging |
Het |
| Chd2 |
A |
G |
7: 73,130,178 (GRCm39) |
Y826H |
probably damaging |
Het |
| Col9a2 |
C |
A |
4: 120,898,171 (GRCm39) |
P28T |
unknown |
Het |
| Cyp3a44 |
G |
A |
5: 145,716,553 (GRCm39) |
P346S |
probably damaging |
Het |
| Dact2 |
A |
G |
17: 14,418,252 (GRCm39) |
V151A |
probably benign |
Het |
| Dhx29 |
T |
C |
13: 113,089,377 (GRCm39) |
I716T |
probably damaging |
Het |
| Entrep1 |
C |
A |
19: 23,952,999 (GRCm39) |
C437F |
probably damaging |
Het |
| Esam |
T |
C |
9: 37,448,917 (GRCm39) |
S342P |
probably damaging |
Het |
| Fer1l4 |
A |
G |
2: 155,877,518 (GRCm39) |
V1053A |
possibly damaging |
Het |
| Grk3 |
A |
G |
5: 113,114,848 (GRCm39) |
F124S |
probably damaging |
Het |
| H2-DMa |
G |
A |
17: 34,356,373 (GRCm39) |
|
probably null |
Het |
| Hsd3b5 |
T |
A |
3: 98,527,036 (GRCm39) |
I137F |
possibly damaging |
Het |
| Itgav |
A |
T |
2: 83,632,123 (GRCm39) |
I902F |
probably benign |
Het |
| Itsn1 |
G |
T |
16: 91,706,111 (GRCm39) |
C179F |
probably damaging |
Het |
| Kcnh8 |
G |
A |
17: 53,146,153 (GRCm39) |
R347H |
probably damaging |
Het |
| Kif9 |
T |
C |
9: 110,319,034 (GRCm39) |
M166T |
possibly damaging |
Het |
| Kmt5c |
C |
T |
7: 4,749,453 (GRCm39) |
Q324* |
probably null |
Het |
| Lcn9 |
G |
A |
2: 25,714,722 (GRCm39) |
E154K |
probably benign |
Het |
| Mfge8 |
A |
T |
7: 78,791,521 (GRCm39) |
L227Q |
probably benign |
Het |
| Mroh2b |
A |
T |
15: 4,960,525 (GRCm39) |
R753* |
probably null |
Het |
| Mtif2 |
G |
A |
11: 29,490,721 (GRCm39) |
R475Q |
probably benign |
Het |
| Nln |
C |
T |
13: 104,173,455 (GRCm39) |
V584I |
possibly damaging |
Het |
| Nr2e3 |
T |
C |
9: 59,856,050 (GRCm39) |
E129G |
probably benign |
Het |
| Ocstamp |
T |
C |
2: 165,239,436 (GRCm39) |
D250G |
probably damaging |
Het |
| Or1a1 |
A |
T |
11: 74,086,722 (GRCm39) |
H131L |
probably damaging |
Het |
| Or52n4b |
T |
C |
7: 108,144,584 (GRCm39) |
I284T |
possibly damaging |
Het |
| Or8k27 |
A |
C |
2: 86,275,562 (GRCm39) |
L255V |
probably damaging |
Het |
| Pld1 |
A |
T |
3: 28,125,336 (GRCm39) |
I417L |
probably benign |
Het |
| Polr1a |
A |
T |
6: 71,918,519 (GRCm39) |
K692N |
probably damaging |
Het |
| Qsox2 |
A |
T |
2: 26,110,759 (GRCm39) |
Y152* |
probably null |
Het |
| Rpap1 |
T |
C |
2: 119,614,259 (GRCm39) |
D46G |
possibly damaging |
Het |
| Rpe65 |
A |
G |
3: 159,320,085 (GRCm39) |
T246A |
probably damaging |
Het |
| Scn5a |
T |
C |
9: 119,391,446 (GRCm39) |
D82G |
probably damaging |
Het |
| Sema3d |
A |
G |
5: 12,634,941 (GRCm39) |
E669G |
possibly damaging |
Het |
| Serpinb6c |
T |
C |
13: 34,064,209 (GRCm39) |
N282S |
probably benign |
Het |
| Snap47 |
A |
T |
11: 59,319,596 (GRCm39) |
S181T |
probably benign |
Het |
| Sphkap |
G |
A |
1: 83,255,236 (GRCm39) |
R838* |
probably null |
Het |
| Terb1 |
A |
T |
8: 105,215,123 (GRCm39) |
D284E |
possibly damaging |
Het |
| Tmem266 |
C |
T |
9: 55,325,292 (GRCm39) |
A153V |
probably damaging |
Het |
| Trappc2b |
T |
C |
11: 51,576,505 (GRCm39) |
Q131R |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,573,148 (GRCm39) |
E25915G |
possibly damaging |
Het |
| Tubal3 |
A |
G |
13: 3,983,011 (GRCm39) |
T264A |
possibly damaging |
Het |
| Vldlr |
G |
A |
19: 27,223,070 (GRCm39) |
R747Q |
probably benign |
Het |
| Zc3h8 |
G |
T |
2: 128,771,877 (GRCm39) |
|
probably benign |
Het |
| Zfp184 |
C |
T |
13: 22,143,443 (GRCm39) |
T383M |
probably damaging |
Het |
| Zfp455 |
T |
C |
13: 67,346,703 (GRCm39) |
F38S |
possibly damaging |
Het |
| Zfp746 |
A |
G |
6: 48,059,108 (GRCm39) |
V167A |
possibly damaging |
Het |
| Zfp985 |
T |
A |
4: 147,668,567 (GRCm39) |
N478K |
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 |
|
|
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 |
|
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'- AGAAAGCCTTTCTGCCAAGTATCCAG -3'
(R):5'- TGACTGCTCCAGCATACAGAAGCC -3'
Sequencing Primer
(F):5'- GTATCCAGTACTCATAGGAGCTGC -3'
(R):5'- CATACAGAAGCCTGCTGGTTG -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation