Incidental Mutation 'R4474:Snx31'
| ID |
330498 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Snx31
|
| Ensembl Gene |
ENSMUSG00000013611 |
| Gene Name |
sorting nexin 31 |
| Synonyms |
4631426E05Rik |
| MMRRC Submission |
041731-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4474 (G1)
|
| Quality Score |
100 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
36504208-36555718 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
A to G
at 36546256 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124063
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000013755]
[ENSMUST00000160936]
[ENSMUST00000161202]
|
| AlphaFold |
Q6P8Y7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000013755
|
| SMART Domains |
Protein: ENSMUSP00000013755
Gene: ENSMUSG00000013611
| Domain | Start | End | E-Value | Type |
|---|
|
PX
|
1 |
105 |
5.44e-9 |
SMART |
|
PDB:4GXB|A
|
112 |
382 |
1e-64 |
PDB |
|
Blast:B41
|
115 |
324 |
1e-49 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160936
|
| SMART Domains |
Protein: ENSMUSP00000124770
Gene: ENSMUSG00000013611
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4GXB|A
|
71 |
134 |
7e-9 |
PDB |
|
Blast:B41
|
75 |
134 |
1e-8 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161202
|
| SMART Domains |
Protein: ENSMUSP00000124063
Gene: ENSMUSG00000013611
| Domain | Start | End | E-Value | Type |
|---|
|
PX
|
1 |
105 |
5.44e-9 |
SMART |
|
PDB:4GXB|A
|
112 |
382 |
1e-64 |
PDB |
|
Blast:B41
|
115 |
324 |
1e-49 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162888
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.9%
- 20x: 94.2%
|
| Validation Efficiency |
95% (36/38) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
A |
T |
11: 110,124,598 (GRCm39) |
I397K |
possibly damaging |
Het |
| Alpk1 |
T |
C |
3: 127,473,667 (GRCm39) |
T779A |
probably damaging |
Het |
| Cdh23 |
G |
T |
10: 60,146,865 (GRCm39) |
A2795D |
probably damaging |
Het |
| Cdk19 |
G |
A |
10: 40,345,952 (GRCm39) |
|
probably null |
Het |
| Cep104 |
T |
A |
4: 154,073,693 (GRCm39) |
M476K |
possibly damaging |
Het |
| Csf1 |
T |
C |
3: 107,661,172 (GRCm39) |
D115G |
probably damaging |
Het |
| Dclre1b |
C |
A |
3: 103,714,559 (GRCm39) |
|
probably benign |
Het |
| Fbp1 |
A |
G |
13: 63,023,075 (GRCm39) |
L74P |
probably damaging |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Hydin |
G |
T |
8: 111,290,497 (GRCm39) |
V3319L |
probably benign |
Het |
| Kcna4 |
A |
G |
2: 107,126,352 (GRCm39) |
N362S |
probably benign |
Het |
| Kif13a |
C |
T |
13: 46,967,631 (GRCm39) |
|
probably null |
Het |
| Lingo2 |
T |
C |
4: 35,708,810 (GRCm39) |
E390G |
probably benign |
Het |
| Mdh1 |
T |
G |
11: 21,516,624 (GRCm39) |
D33A |
possibly damaging |
Het |
| Mov10 |
C |
T |
3: 104,725,781 (GRCm39) |
G21D |
probably damaging |
Het |
| Muc21 |
G |
T |
17: 35,931,496 (GRCm39) |
|
probably benign |
Het |
| Or4f56 |
G |
A |
2: 111,703,784 (GRCm39) |
R139W |
possibly damaging |
Het |
| Or7g32 |
T |
A |
9: 19,408,173 (GRCm39) |
L43Q |
probably damaging |
Het |
| Parn |
A |
G |
16: 13,482,549 (GRCm39) |
S100P |
probably benign |
Het |
| Pik3c2g |
T |
A |
6: 139,610,749 (GRCm39) |
Y332N |
probably damaging |
Het |
| Rab22a |
C |
T |
2: 173,537,056 (GRCm39) |
T85M |
probably damaging |
Het |
| Rims2 |
A |
G |
15: 39,325,956 (GRCm39) |
S763G |
probably damaging |
Het |
| Sarm1 |
T |
A |
11: 78,387,927 (GRCm39) |
I120L |
probably benign |
Het |
| Siah1b |
G |
A |
X: 162,854,688 (GRCm39) |
P131S |
probably damaging |
Het |
| Tmem150a |
C |
T |
6: 72,334,035 (GRCm39) |
S39F |
probably benign |
Het |
| Tsc2 |
T |
A |
17: 24,816,238 (GRCm39) |
H1605L |
probably damaging |
Het |
| Ugt1a10 |
TAAAAAAAAA |
TAAAAAAA |
1: 88,143,650 (GRCm39) |
|
probably benign |
Het |
| Vmn2r95 |
T |
C |
17: 18,672,507 (GRCm39) |
L820P |
probably damaging |
Het |
| Zfp36l3 |
T |
C |
X: 52,777,924 (GRCm39) |
N97D |
possibly damaging |
Het |
|
| Other mutations in Snx31 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00094:Snx31
|
APN |
15 |
36,545,761 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL01627:Snx31
|
APN |
15 |
36,517,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02514:Snx31
|
APN |
15 |
36,525,728 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03069:Snx31
|
APN |
15 |
36,525,749 (GRCm39) |
nonsense |
probably null |
|
|
IGL03182:Snx31
|
APN |
15 |
36,525,833 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0755:Snx31
|
UTSW |
15 |
36,534,576 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1005:Snx31
|
UTSW |
15 |
36,517,837 (GRCm39) |
splice site |
probably benign |
|
|
R1463:Snx31
|
UTSW |
15 |
36,539,444 (GRCm39) |
missense |
probably null |
1.00 |
|
R1513:Snx31
|
UTSW |
15 |
36,545,745 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2030:Snx31
|
UTSW |
15 |
36,525,848 (GRCm39) |
missense |
probably benign |
0.31 |
|
R3404:Snx31
|
UTSW |
15 |
36,525,799 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3720:Snx31
|
UTSW |
15 |
36,523,704 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4152:Snx31
|
UTSW |
15 |
36,525,785 (GRCm39) |
missense |
probably benign |
|
|
R4729:Snx31
|
UTSW |
15 |
36,523,698 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4998:Snx31
|
UTSW |
15 |
36,539,513 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5010:Snx31
|
UTSW |
15 |
36,555,469 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5375:Snx31
|
UTSW |
15 |
36,525,730 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5893:Snx31
|
UTSW |
15 |
36,523,601 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5970:Snx31
|
UTSW |
15 |
36,523,634 (GRCm39) |
nonsense |
probably null |
|
|
R6211:Snx31
|
UTSW |
15 |
36,547,030 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7198:Snx31
|
UTSW |
15 |
36,555,455 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7293:Snx31
|
UTSW |
15 |
36,523,596 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7329:Snx31
|
UTSW |
15 |
36,555,621 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7741:Snx31
|
UTSW |
15 |
36,523,587 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8057:Snx31
|
UTSW |
15 |
36,523,606 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8791:Snx31
|
UTSW |
15 |
36,537,678 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8806:Snx31
|
UTSW |
15 |
36,537,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9349:Snx31
|
UTSW |
15 |
36,555,430 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9655:Snx31
|
UTSW |
15 |
36,534,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCTTCCCAAAGAACCAATTGAGTT -3'
(R):5'- GCTTTATAGCTTTATTGCAGCGTAA -3'
Sequencing Primer
(F):5'- TTCATCACATGGTAGGAGCTC -3'
(R):5'- AGTTCTGTTCACAGGTCAGCGAC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation