Incidental Mutation 'R1282:Snx11'
| ID |
151068 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Snx11
|
| Ensembl Gene |
ENSMUSG00000020876 |
| Gene Name |
sorting nexin 11 |
| Synonyms |
A930041K09Rik, 4933439F10Rik |
| MMRRC Submission |
039348-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.140)
|
| Stock # |
R1282 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
96658381-96668385 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 96663987 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 35
(Y35C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115789
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021246]
[ENSMUST00000107661]
[ENSMUST00000127375]
|
| AlphaFold |
Q91WL6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021246
AA Change: Y35C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000021246
Gene: ENSMUSG00000020876
AA Change: Y35C
| Domain | Start | End | E-Value | Type |
|---|
|
PX
|
11 |
129 |
3.7e-20 |
SMART |
|
low complexity region
|
185 |
196 |
N/A |
INTRINSIC |
|
low complexity region
|
213 |
230 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107661
AA Change: Y35C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103288
Gene: ENSMUSG00000020876
AA Change: Y35C
| Domain | Start | End | E-Value | Type |
|---|
|
PX
|
11 |
129 |
3.7e-20 |
SMART |
|
low complexity region
|
185 |
196 |
N/A |
INTRINSIC |
|
low complexity region
|
213 |
230 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124865
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125025
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000127375
AA Change: Y35C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115789
Gene: ENSMUSG00000020876
AA Change: Y35C
| Domain | Start | End | E-Value | Type |
|---|
|
PX
|
11 |
129 |
3.7e-20 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132354
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136799
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 93.1%
|
| 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 phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled coil region, like some family members. This gene encodes a protein of unknown function. This gene results in two transcript variants differing in the 5' UTR, but encoding the same protein. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acmsd |
T |
C |
1: 127,666,297 (GRCm39) |
Y23H |
probably damaging |
Het |
| Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
| Atp2a2 |
G |
T |
5: 122,629,817 (GRCm39) |
T84K |
probably benign |
Het |
| Cfap65 |
T |
A |
1: 74,964,263 (GRCm39) |
T562S |
probably benign |
Het |
| Cyp2b10 |
G |
A |
7: 25,625,505 (GRCm39) |
C436Y |
probably damaging |
Het |
| Dnajc7 |
T |
C |
11: 100,475,467 (GRCm39) |
D381G |
probably damaging |
Het |
| Dnase1l3 |
T |
C |
14: 7,983,117 (GRCm38) |
D129G |
probably benign |
Het |
| Espl1 |
A |
G |
15: 102,223,826 (GRCm39) |
T1126A |
probably benign |
Het |
| Exoc3 |
T |
C |
13: 74,330,411 (GRCm39) |
N506S |
probably benign |
Het |
| Fastkd3 |
C |
A |
13: 68,732,676 (GRCm39) |
N332K |
possibly damaging |
Het |
| Fbxw15 |
G |
A |
9: 109,387,314 (GRCm39) |
S227F |
probably damaging |
Het |
| Foxp4 |
G |
A |
17: 48,186,568 (GRCm39) |
P404S |
unknown |
Het |
| Gjb3 |
G |
A |
4: 127,220,224 (GRCm39) |
R103W |
probably damaging |
Het |
| Gm12789 |
T |
A |
4: 101,845,487 (GRCm39) |
W59R |
probably damaging |
Het |
| Greb1l |
T |
A |
18: 10,547,289 (GRCm39) |
N1502K |
probably benign |
Het |
| H2-K2 |
A |
C |
17: 34,218,421 (GRCm39) |
I165S |
probably damaging |
Het |
| Ipo9 |
A |
G |
1: 135,330,030 (GRCm39) |
I470T |
possibly damaging |
Het |
| Kcnu1 |
A |
T |
8: 26,395,985 (GRCm39) |
I657F |
probably benign |
Het |
| Lrp1b |
A |
T |
2: 40,750,773 (GRCm39) |
N2930K |
probably damaging |
Het |
| Or56a5 |
T |
A |
7: 104,792,859 (GRCm39) |
I220F |
probably benign |
Het |
| Prag1 |
T |
C |
8: 36,567,068 (GRCm39) |
V73A |
probably damaging |
Het |
| Prrc2b |
T |
C |
2: 32,113,456 (GRCm39) |
I1963T |
probably damaging |
Het |
| Rep15 |
C |
T |
6: 146,934,727 (GRCm39) |
R189* |
probably null |
Het |
| Resf1 |
C |
T |
6: 149,230,670 (GRCm39) |
Q1239* |
probably null |
Het |
| Rtp3 |
T |
C |
9: 110,815,988 (GRCm39) |
K188E |
probably benign |
Het |
| Scd2 |
T |
C |
19: 44,283,620 (GRCm39) |
L101P |
probably damaging |
Het |
| Scn7a |
A |
T |
2: 66,531,193 (GRCm39) |
H561Q |
probably damaging |
Het |
| Sfr1 |
T |
C |
19: 47,721,407 (GRCm39) |
S118P |
probably damaging |
Het |
| Slf1 |
C |
T |
13: 77,191,959 (GRCm39) |
M958I |
probably damaging |
Het |
| Snrk |
G |
T |
9: 121,989,586 (GRCm39) |
R310L |
possibly damaging |
Het |
| Supt6 |
T |
C |
11: 78,119,594 (GRCm39) |
T404A |
possibly damaging |
Het |
| Svep1 |
C |
A |
4: 58,100,032 (GRCm39) |
L1337F |
possibly damaging |
Het |
| Traf3ip2 |
C |
T |
10: 39,502,401 (GRCm39) |
T183M |
probably damaging |
Het |
| Vmn2r28 |
A |
T |
7: 5,484,301 (GRCm39) |
M633K |
probably damaging |
Het |
| Vmn2r67 |
A |
G |
7: 84,785,932 (GRCm39) |
V691A |
probably benign |
Het |
|
| Other mutations in Snx11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0918:Snx11
|
UTSW |
11 |
96,660,104 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1586:Snx11
|
UTSW |
11 |
96,661,522 (GRCm39) |
missense |
probably benign |
0.14 |
|
R4838:Snx11
|
UTSW |
11 |
96,665,284 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R5308:Snx11
|
UTSW |
11 |
96,661,535 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6753:Snx11
|
UTSW |
11 |
96,660,732 (GRCm39) |
intron |
probably benign |
|
|
R6898:Snx11
|
UTSW |
11 |
96,659,888 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7092:Snx11
|
UTSW |
11 |
96,663,665 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7266:Snx11
|
UTSW |
11 |
96,663,985 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7836:Snx11
|
UTSW |
11 |
96,660,032 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8022:Snx11
|
UTSW |
11 |
96,663,680 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8098:Snx11
|
UTSW |
11 |
96,661,500 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8220:Snx11
|
UTSW |
11 |
96,661,885 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8248:Snx11
|
UTSW |
11 |
96,660,759 (GRCm39) |
missense |
unknown |
|
|
R9524:Snx11
|
UTSW |
11 |
96,660,023 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9722:Snx11
|
UTSW |
11 |
96,661,925 (GRCm39) |
missense |
probably benign |
0.06 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAAGCCATTCTGTGTCCCCTCAAG -3'
(R):5'- GGTACTAAGGAACTCTGGGTACTGCTG -3'
Sequencing Primer
(F):5'- GTGTCCCCTCAAGCTAGTC -3'
(R):5'- ggcagacgggcgagaac -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation