Incidental Mutation 'R0918:Snx11'
| ID |
81549 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Snx11
|
| Ensembl Gene |
ENSMUSG00000020876 |
| Gene Name |
sorting nexin 11 |
| Synonyms |
A930041K09Rik, 4933439F10Rik |
| MMRRC Submission |
039068-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.140)
|
| Stock # |
R0918 (G1)
|
| Quality Score |
164 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
96658381-96668385 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 96660104 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 195
(P195L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103288
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021246]
[ENSMUST00000107661]
[ENSMUST00000127375]
|
| AlphaFold |
Q91WL6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000021246
AA Change: P195L
PolyPhen 2
Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000021246
Gene: ENSMUSG00000020876
AA Change: P195L
| 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 |
possibly damaging
Transcript: ENSMUST00000107661
AA Change: P195L
PolyPhen 2
Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000103288
Gene: ENSMUSG00000020876
AA Change: P195L
| 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 benign
Transcript: ENSMUST00000127375
|
| SMART Domains |
Protein: ENSMUSP00000115789
Gene: ENSMUSG00000020876
| Domain | Start | End | E-Value | Type |
|---|
|
PX
|
11 |
129 |
3.7e-20 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132354
|
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.7%
- 10x: 96.2%
- 20x: 90.0%
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadac |
T |
G |
3: 59,946,953 (GRCm39) |
I217R |
probably damaging |
Het |
| Acp1 |
G |
T |
12: 30,955,126 (GRCm39) |
S20* |
probably null |
Het |
| Adcy3 |
A |
G |
12: 4,248,360 (GRCm39) |
D474G |
probably benign |
Het |
| Apob |
T |
C |
12: 8,033,941 (GRCm39) |
I217T |
probably benign |
Het |
| Cdh12 |
G |
A |
15: 21,492,685 (GRCm39) |
V235I |
probably damaging |
Het |
| Cdhr5 |
T |
A |
7: 140,852,062 (GRCm39) |
T197S |
probably damaging |
Het |
| Cerkl |
A |
G |
2: 79,163,973 (GRCm39) |
I449T |
probably benign |
Het |
| Cpz |
A |
G |
5: 35,674,998 (GRCm39) |
Y84H |
probably damaging |
Het |
| Drosha |
T |
C |
15: 12,842,619 (GRCm39) |
|
probably null |
Het |
| Fbxo11 |
A |
T |
17: 88,305,031 (GRCm39) |
N613K |
probably damaging |
Het |
| Fes |
G |
T |
7: 80,030,953 (GRCm39) |
T536K |
probably damaging |
Het |
| Gm13941 |
G |
C |
2: 110,930,945 (GRCm39) |
T76R |
unknown |
Het |
| Lrp1 |
T |
C |
10: 127,429,834 (GRCm39) |
E412G |
probably damaging |
Het |
| Map3k12 |
T |
C |
15: 102,412,287 (GRCm39) |
I285V |
probably damaging |
Het |
| Map3k13 |
G |
A |
16: 21,744,990 (GRCm39) |
D850N |
probably damaging |
Het |
| Mapk4 |
C |
T |
18: 74,103,408 (GRCm39) |
V34M |
probably damaging |
Het |
| Morn1 |
T |
A |
4: 155,171,928 (GRCm39) |
W43R |
probably damaging |
Het |
| Ncan |
T |
G |
8: 70,561,039 (GRCm39) |
M643L |
possibly damaging |
Het |
| Npc1l1 |
G |
A |
11: 6,168,239 (GRCm39) |
T984M |
probably damaging |
Het |
| Or14c44 |
A |
G |
7: 86,062,403 (GRCm39) |
T278A |
probably benign |
Het |
| Or5a3 |
A |
G |
19: 12,400,599 (GRCm39) |
K309E |
probably benign |
Het |
| Or5ak4 |
A |
G |
2: 85,162,276 (GRCm39) |
|
probably benign |
Het |
| Or5p5 |
T |
C |
7: 107,414,418 (GRCm39) |
I209T |
probably benign |
Het |
| Pcdhb22 |
T |
C |
18: 37,653,067 (GRCm39) |
F255L |
probably damaging |
Het |
| Pi4ka |
T |
C |
16: 17,103,124 (GRCm39) |
D1697G |
possibly damaging |
Het |
| Pla2g12b |
A |
G |
10: 59,257,306 (GRCm39) |
D163G |
probably damaging |
Het |
| Pot1a |
G |
A |
6: 25,756,267 (GRCm39) |
T359M |
possibly damaging |
Het |
| Sass6 |
G |
A |
3: 116,397,172 (GRCm39) |
|
probably null |
Het |
| Scn1a |
C |
T |
2: 66,153,651 (GRCm39) |
|
probably null |
Het |
| Slc38a1 |
A |
G |
15: 96,507,743 (GRCm39) |
L103P |
probably damaging |
Het |
| Slc38a6 |
T |
A |
12: 73,391,559 (GRCm39) |
|
probably null |
Het |
| Smarca4 |
C |
T |
9: 21,547,511 (GRCm39) |
P265S |
probably benign |
Het |
| Snrpa1 |
A |
G |
7: 65,720,363 (GRCm39) |
T189A |
probably benign |
Het |
| Spen |
T |
G |
4: 141,212,875 (GRCm39) |
I584L |
unknown |
Het |
| Sult2a5 |
T |
A |
7: 13,359,334 (GRCm39) |
H103Q |
probably benign |
Het |
| Syce1 |
T |
C |
7: 140,360,436 (GRCm39) |
K50E |
probably damaging |
Het |
| Timm21 |
G |
C |
18: 84,967,387 (GRCm39) |
L130V |
probably damaging |
Het |
| Tmem132a |
A |
G |
19: 10,835,477 (GRCm39) |
S1018P |
probably damaging |
Het |
|
| Other mutations in Snx11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R1282:Snx11
|
UTSW |
11 |
96,663,987 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- GACACAGAGAGTCCCTCCTCCG -3'
(R):5'- GCAATGGTACATCAGTGAGCAGCAG -3'
Sequencing Primer
(F):5'- AGTCCCTCCTCCGGTCTTG -3'
(R):5'- cacctctcctctcctgcc -3'
|
| Posted On |
2013-11-07 |
Incidental Mutation