Incidental Mutation 'R1627:Snx33'
| ID |
172564 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Snx33
|
| Ensembl Gene |
ENSMUSG00000032733 |
| Gene Name |
sorting nexin 33 |
| Synonyms |
E130307J07Rik, Sh3px3 |
| MMRRC Submission |
039664-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
R1627 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
56824477-56835655 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 56833241 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 276
(R276L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000060225
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050916]
|
| AlphaFold |
Q4VAA7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000050916
AA Change: R276L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000060225
Gene: ENSMUSG00000032733
AA Change: R276L
| Domain | Start | End | E-Value | Type |
|---|
|
SH3
|
3 |
60 |
3.2e-15 |
SMART |
|
low complexity region
|
111 |
122 |
N/A |
INTRINSIC |
|
PX
|
227 |
336 |
6.69e-18 |
SMART |
|
Pfam:BAR_3_WASP_bdg
|
337 |
572 |
1.1e-113 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 89.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is involved in cytoskeletal reorganization, vesicle trafficking, endocytosis, and mitosis. The encoded protein is essential for the creation of the cleavage furrow during mitosis and for completion of mitosis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg3 |
A |
G |
5: 105,083,880 (GRCm39) |
M630T |
probably benign |
Het |
| Anpep |
T |
C |
7: 79,491,759 (GRCm39) |
I81V |
probably benign |
Het |
| Bub1 |
A |
G |
2: 127,650,933 (GRCm39) |
S627P |
probably benign |
Het |
| C1s1 |
T |
A |
6: 124,514,439 (GRCm39) |
N139I |
probably damaging |
Het |
| Car6 |
A |
T |
4: 150,277,035 (GRCm39) |
V152D |
probably damaging |
Het |
| Cdh19 |
C |
A |
1: 110,847,375 (GRCm39) |
M411I |
probably benign |
Het |
| Cep95 |
A |
G |
11: 106,700,531 (GRCm39) |
E322G |
probably damaging |
Het |
| Chek1 |
C |
A |
9: 36,625,737 (GRCm39) |
V303L |
probably benign |
Het |
| Dctn1 |
T |
A |
6: 83,172,064 (GRCm39) |
I818N |
probably damaging |
Het |
| Dscaml1 |
T |
C |
9: 45,664,445 (GRCm39) |
S2107P |
probably damaging |
Het |
| Dusp14 |
A |
G |
11: 83,939,597 (GRCm39) |
I148T |
probably damaging |
Het |
| Eps15 |
A |
G |
4: 109,227,754 (GRCm39) |
D645G |
probably damaging |
Het |
| Etl4 |
A |
G |
2: 20,806,390 (GRCm39) |
N1153S |
possibly damaging |
Het |
| Fer1l6 |
A |
G |
15: 58,513,728 (GRCm39) |
D1541G |
probably benign |
Het |
| Gm14496 |
A |
G |
2: 181,640,571 (GRCm39) |
S513G |
probably damaging |
Het |
| H2-D1 |
G |
T |
17: 35,482,471 (GRCm39) |
A64S |
possibly damaging |
Het |
| Hsd17b2 |
T |
A |
8: 118,428,909 (GRCm39) |
F59I |
possibly damaging |
Het |
| Itgb7 |
T |
G |
15: 102,131,911 (GRCm39) |
Q224P |
probably damaging |
Het |
| Jak1 |
A |
G |
4: 101,048,821 (GRCm39) |
|
probably null |
Het |
| Kdm1b |
G |
A |
13: 47,217,707 (GRCm39) |
|
probably null |
Het |
| Lrp8 |
A |
G |
4: 107,711,613 (GRCm39) |
I466V |
probably damaging |
Het |
| Mga |
A |
G |
2: 119,795,043 (GRCm39) |
D2909G |
probably damaging |
Het |
| Nol8 |
T |
C |
13: 49,814,980 (GRCm39) |
S345P |
probably benign |
Het |
| Nup210l |
T |
C |
3: 90,051,476 (GRCm39) |
M540T |
probably benign |
Het |
| Obscn |
C |
T |
11: 59,003,464 (GRCm39) |
R1370H |
probably benign |
Het |
| Or2ad1 |
A |
G |
13: 21,327,125 (GRCm39) |
F34S |
probably damaging |
Het |
| Pbx3 |
A |
G |
2: 34,065,965 (GRCm39) |
V375A |
probably benign |
Het |
| Ppp1r9a |
T |
C |
6: 4,906,168 (GRCm39) |
V241A |
possibly damaging |
Het |
| Psmd6 |
C |
T |
14: 14,112,539 (GRCm38) |
V354M |
probably damaging |
Het |
| Rab2a |
T |
C |
4: 8,578,481 (GRCm39) |
F94L |
probably damaging |
Het |
| Rev1 |
T |
C |
1: 38,094,571 (GRCm39) |
D949G |
probably damaging |
Het |
| Ric8a |
A |
G |
7: 140,438,091 (GRCm39) |
D110G |
probably damaging |
Het |
| Rlf |
A |
T |
4: 121,007,197 (GRCm39) |
D594E |
probably benign |
Het |
| Septin1 |
C |
A |
7: 126,817,230 (GRCm39) |
|
probably null |
Het |
| Slco5a1 |
G |
C |
1: 13,060,607 (GRCm39) |
P38R |
probably damaging |
Het |
| Taf11 |
A |
T |
17: 28,124,253 (GRCm39) |
D101E |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,764,564 (GRCm39) |
S3168P |
probably damaging |
Het |
| Uggt2 |
T |
C |
14: 119,295,075 (GRCm39) |
E41G |
possibly damaging |
Het |
| Vmn2r80 |
A |
G |
10: 79,030,249 (GRCm39) |
R692G |
probably damaging |
Het |
| Zfp763 |
A |
T |
17: 33,240,758 (GRCm39) |
W24R |
probably damaging |
Het |
|
| Other mutations in Snx33 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02261:Snx33
|
APN |
9 |
56,833,862 (GRCm39) |
missense |
probably benign |
|
|
IGL02646:Snx33
|
APN |
9 |
56,834,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03028:Snx33
|
APN |
9 |
56,833,735 (GRCm39) |
missense |
probably benign |
|
|
R0206:Snx33
|
UTSW |
9 |
56,833,508 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0755:Snx33
|
UTSW |
9 |
56,832,741 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R1218:Snx33
|
UTSW |
9 |
56,833,269 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1523:Snx33
|
UTSW |
9 |
56,833,466 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R1758:Snx33
|
UTSW |
9 |
56,833,982 (GRCm39) |
missense |
probably benign |
0.29 |
|
R1856:Snx33
|
UTSW |
9 |
56,833,295 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1885:Snx33
|
UTSW |
9 |
56,833,121 (GRCm39) |
missense |
probably benign |
0.42 |
|
R2113:Snx33
|
UTSW |
9 |
56,833,724 (GRCm39) |
missense |
probably benign |
0.28 |
|
R2422:Snx33
|
UTSW |
9 |
56,825,822 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3789:Snx33
|
UTSW |
9 |
56,825,844 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3870:Snx33
|
UTSW |
9 |
56,834,024 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3871:Snx33
|
UTSW |
9 |
56,834,024 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4734:Snx33
|
UTSW |
9 |
56,833,185 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R4884:Snx33
|
UTSW |
9 |
56,833,464 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5069:Snx33
|
UTSW |
9 |
56,833,475 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5555:Snx33
|
UTSW |
9 |
56,832,681 (GRCm39) |
missense |
probably benign |
|
|
R6153:Snx33
|
UTSW |
9 |
56,833,983 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R7178:Snx33
|
UTSW |
9 |
56,833,151 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7179:Snx33
|
UTSW |
9 |
56,833,151 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7315:Snx33
|
UTSW |
9 |
56,833,151 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7414:Snx33
|
UTSW |
9 |
56,833,151 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7593:Snx33
|
UTSW |
9 |
56,834,058 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R7607:Snx33
|
UTSW |
9 |
56,833,997 (GRCm39) |
missense |
probably benign |
|
|
R7632:Snx33
|
UTSW |
9 |
56,833,702 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8022:Snx33
|
UTSW |
9 |
56,832,624 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R8460:Snx33
|
UTSW |
9 |
56,833,476 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGAAGTGCTGGAAGCCCTCATAC -3'
(R):5'- TGTGGTAGGACGGAACCTCAATCG -3'
Sequencing Primer
(F):5'- TGGAAGCCCTCATACTGGGAG -3'
(R):5'- GCCAAGATTGCTGAGACTTACTC -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation