Incidental Mutation 'R9349:Snx31'
| ID |
707978 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Snx31
|
| Ensembl Gene |
ENSMUSG00000013611 |
| Gene Name |
sorting nexin 31 |
| Synonyms |
4631426E05Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9349 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
36504208-36555718 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 36555430 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Asparagine
at position 39
(S39N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124063
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000013755]
[ENSMUST00000161202]
|
| AlphaFold |
Q6P8Y7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000013755
AA Change: S39N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000013755
Gene: ENSMUSG00000013611
AA Change: S39N
| 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 damaging
Transcript: ENSMUST00000161202
AA Change: S39N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000124063
Gene: ENSMUSG00000013611
AA Change: S39N
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A230072I06Rik |
A |
G |
8: 12,329,665 (GRCm39) |
Q40R |
unknown |
Het |
| A730015C16Rik |
C |
T |
4: 108,705,053 (GRCm39) |
V89I |
unknown |
Het |
| Adam19 |
G |
T |
11: 46,022,570 (GRCm39) |
E508* |
probably null |
Het |
| Arhgef33 |
C |
T |
17: 80,644,736 (GRCm39) |
Q22* |
probably null |
Het |
| Arih2 |
C |
G |
9: 108,488,938 (GRCm39) |
R260P |
probably damaging |
Het |
| Astn2 |
T |
A |
4: 66,184,492 (GRCm39) |
T202S |
unknown |
Het |
| Bpifb5 |
T |
A |
2: 154,067,005 (GRCm39) |
L86Q |
possibly damaging |
Het |
| Brpf3 |
G |
A |
17: 29,040,276 (GRCm39) |
S899N |
probably benign |
Het |
| Ccl20 |
T |
C |
1: 83,095,586 (GRCm39) |
F49S |
|
Het |
| Ctse |
A |
G |
1: 131,592,111 (GRCm39) |
T146A |
probably benign |
Het |
| Dhx35 |
T |
C |
2: 158,671,444 (GRCm39) |
S292P |
possibly damaging |
Het |
| Fut7 |
C |
T |
2: 25,314,993 (GRCm39) |
P84S |
possibly damaging |
Het |
| Gm9736 |
A |
C |
10: 77,586,393 (GRCm39) |
S266A |
unknown |
Het |
| Gsdma |
T |
A |
11: 98,566,771 (GRCm39) |
L366Q |
probably benign |
Het |
| Ifna15 |
T |
A |
4: 88,476,283 (GRCm39) |
D67V |
probably benign |
Het |
| Igkv2-112 |
G |
A |
6: 68,197,678 (GRCm39) |
V117I |
probably benign |
Het |
| Kcnh2 |
C |
T |
5: 24,538,003 (GRCm39) |
G120E |
probably damaging |
Het |
| Kcnip1 |
T |
G |
11: 33,601,548 (GRCm39) |
Y29S |
probably benign |
Het |
| Lrrc37a |
T |
G |
11: 103,388,454 (GRCm39) |
M2324L |
unknown |
Het |
| Mettl5 |
T |
A |
2: 69,702,113 (GRCm39) |
D185V |
possibly damaging |
Het |
| Mmp1b |
T |
A |
9: 7,369,271 (GRCm39) |
M359L |
probably benign |
Het |
| Ndufa5 |
G |
A |
6: 24,522,749 (GRCm39) |
T31I |
probably benign |
Het |
| Ngly1 |
T |
A |
14: 16,281,801 (GRCm38) |
C352* |
probably null |
Het |
| Or14c45 |
A |
G |
7: 86,176,373 (GRCm39) |
H136R |
probably benign |
Het |
| Or51a39 |
A |
T |
7: 102,362,875 (GRCm39) |
C248* |
probably null |
Het |
| Pcdhac1 |
C |
T |
18: 37,224,021 (GRCm39) |
A278V |
possibly damaging |
Het |
| Ppp2r3c |
T |
A |
12: 55,345,268 (GRCm39) |
K73N |
probably benign |
Het |
| Rasgrf1 |
T |
C |
9: 89,884,460 (GRCm39) |
V975A |
probably damaging |
Het |
| Rps27rt |
C |
T |
9: 114,811,673 (GRCm39) |
V35M |
probably benign |
Het |
| Slc22a8 |
A |
G |
19: 8,571,469 (GRCm39) |
N67D |
probably benign |
Het |
| Slc39a6 |
C |
A |
18: 24,718,493 (GRCm39) |
M521I |
probably benign |
Het |
| Speer1b |
C |
T |
5: 11,823,221 (GRCm39) |
T130I |
possibly damaging |
Het |
| Sv2a |
T |
C |
3: 96,096,795 (GRCm39) |
|
probably null |
Het |
| Thg1l |
G |
A |
11: 45,846,273 (GRCm39) |
A7V |
probably benign |
Het |
| Ttc39c |
C |
T |
18: 12,822,932 (GRCm39) |
Q147* |
probably null |
Het |
| Ube2u |
A |
G |
4: 100,407,194 (GRCm39) |
N352D |
unknown |
Het |
| Uhrf1 |
T |
C |
17: 56,617,737 (GRCm39) |
V153A |
possibly damaging |
Het |
| Wdfy4 |
A |
G |
14: 32,875,996 (GRCm39) |
S143P |
|
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 |
|
|
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 |
|
R9655:Snx31
|
UTSW |
15 |
36,534,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGATGTTGGTATAGGAGATAGCTC -3'
(R):5'- CCAGAGCCATGAAGATGCAC -3'
Sequencing Primer
(F):5'- ATAGCTCTGGGATTTAAAGAGTGCC -3'
(R):5'- GCACTTCTGCATCCCGGTG -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation