Incidental Mutation 'R3404:Snx31'
| ID |
259300 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Snx31
|
| Ensembl Gene |
ENSMUSG00000013611 |
| Gene Name |
sorting nexin 31 |
| Synonyms |
4631426E05Rik |
| MMRRC Submission |
040622-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3404 (G1)
|
| Quality Score |
197 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
36504208-36555718 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 36525799 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 300
(C300Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124063
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000013755]
[ENSMUST00000161202]
|
| AlphaFold |
Q6P8Y7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000013755
AA Change: C300Y
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000013755
Gene: ENSMUSG00000013611
AA Change: C300Y
| 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 |
probably benign
Transcript: ENSMUST00000161202
AA Change: C300Y
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000124063
Gene: ENSMUSG00000013611
AA Change: C300Y
| 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 |
|
| Meta Mutation Damage Score |
0.1353 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 93.8%
|
| Validation Efficiency |
98% (41/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy8 |
C |
T |
15: 64,571,449 (GRCm39) |
V1065M |
probably damaging |
Het |
| Alg12 |
A |
T |
15: 88,698,782 (GRCm39) |
I181N |
probably damaging |
Het |
| Alms1 |
C |
A |
6: 85,644,945 (GRCm39) |
|
probably benign |
Het |
| Ankar |
T |
A |
1: 72,682,252 (GRCm39) |
K1220* |
probably null |
Het |
| Apc |
A |
G |
18: 34,446,655 (GRCm39) |
T1150A |
probably benign |
Het |
| Baz1a |
C |
T |
12: 54,963,774 (GRCm39) |
S770N |
probably benign |
Het |
| Bcorl1 |
T |
A |
X: 47,459,884 (GRCm39) |
M1139K |
probably benign |
Het |
| Bdkrb2 |
T |
C |
12: 105,558,755 (GRCm39) |
V332A |
possibly damaging |
Het |
| Bnc2 |
G |
T |
4: 84,464,478 (GRCm39) |
N20K |
probably damaging |
Het |
| Brip1 |
T |
A |
11: 86,034,089 (GRCm39) |
N544I |
possibly damaging |
Het |
| Cdc27 |
T |
C |
11: 104,398,026 (GRCm39) |
E778G |
probably damaging |
Het |
| Cyp2c66 |
T |
C |
19: 39,151,771 (GRCm39) |
V162A |
probably benign |
Het |
| Dnai1 |
A |
T |
4: 41,603,246 (GRCm39) |
E176D |
probably benign |
Het |
| Dnhd1 |
C |
T |
7: 105,343,968 (GRCm39) |
Q1771* |
probably null |
Het |
| Fezf1 |
A |
T |
6: 23,247,283 (GRCm39) |
V264D |
probably benign |
Het |
| Gsdma |
T |
C |
11: 98,563,964 (GRCm39) |
|
probably benign |
Het |
| Hemk1 |
G |
A |
9: 107,214,415 (GRCm39) |
Q6* |
probably null |
Het |
| Hspa13 |
C |
A |
16: 75,554,914 (GRCm39) |
E391* |
probably null |
Het |
| Ighv1-53 |
T |
A |
12: 115,122,058 (GRCm39) |
T106S |
possibly damaging |
Het |
| Immp2l |
T |
A |
12: 41,160,846 (GRCm39) |
L48* |
probably null |
Het |
| Itgam |
A |
G |
7: 127,669,875 (GRCm39) |
|
probably null |
Het |
| Ltn1 |
A |
T |
16: 87,213,103 (GRCm39) |
V486D |
probably damaging |
Het |
| Mki67 |
T |
A |
7: 135,309,204 (GRCm39) |
T416S |
probably benign |
Het |
| Mycbp2 |
C |
A |
14: 103,437,550 (GRCm39) |
C2104F |
probably damaging |
Het |
| Nlrp2 |
T |
C |
7: 5,322,286 (GRCm39) |
D49G |
probably benign |
Het |
| Orc4 |
G |
A |
2: 48,827,501 (GRCm39) |
P31S |
probably benign |
Het |
| Pcdh17 |
T |
A |
14: 84,684,062 (GRCm39) |
D176E |
probably damaging |
Het |
| Prkd1 |
C |
T |
12: 50,695,687 (GRCm39) |
A24T |
unknown |
Het |
| Pzp |
G |
A |
6: 128,490,769 (GRCm39) |
T398M |
probably damaging |
Het |
| Rbfox3 |
T |
A |
11: 118,387,283 (GRCm39) |
Q277L |
possibly damaging |
Het |
| Rnf146 |
A |
G |
10: 29,223,424 (GRCm39) |
V154A |
possibly damaging |
Het |
| Senp7 |
T |
A |
16: 56,008,640 (GRCm39) |
W1007R |
probably damaging |
Het |
| Ticrr |
G |
C |
7: 79,344,539 (GRCm39) |
S1468T |
probably benign |
Het |
| Trim33 |
A |
G |
3: 103,228,875 (GRCm39) |
E327G |
probably damaging |
Het |
| Ubap2l |
T |
C |
3: 89,946,157 (GRCm39) |
E149G |
probably damaging |
Het |
| Ube4a |
A |
G |
9: 44,840,985 (GRCm39) |
S979P |
probably damaging |
Het |
| Uvssa |
G |
T |
5: 33,547,162 (GRCm39) |
G243C |
probably damaging |
Het |
| Vps13b |
T |
C |
15: 35,926,200 (GRCm39) |
S3834P |
probably damaging |
Het |
| Zfp609 |
A |
T |
9: 65,608,454 (GRCm39) |
M1142K |
possibly damaging |
Het |
| Zfp729b |
T |
G |
13: 67,739,283 (GRCm39) |
H994P |
probably 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 |
|
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 |
|
|
R4474:Snx31
|
UTSW |
15 |
36,546,256 (GRCm39) |
intron |
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'- GCTGTGACATCCAAAGTGAC -3'
(R):5'- CCCGCTGTGAGCTCCATAAATG -3'
Sequencing Primer
(F):5'- AACTTGCTCATAGGCTAGGC -3'
(R):5'- GCTGTGAGCTCCATAAATGTGAAAAC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation