Incidental Mutation 'R3010:Mx2'
| ID |
257484 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mx2
|
| Ensembl Gene |
ENSMUSG00000023341 |
| Gene Name |
MX dynamin-like GTPase 2 |
| Synonyms |
Mx-2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.178)
|
| Stock # |
R3010 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
97337281-97362101 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 97347999 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 208
(V208A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141038
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024112]
[ENSMUST00000188251]
[ENSMUST00000190447]
|
| AlphaFold |
Q9WVP9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024112
AA Change: V208A
PolyPhen 2
Score 0.258 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000024112
Gene: ENSMUSG00000023341
AA Change: V208A
| Domain | Start | End | E-Value | Type |
|---|
|
DYNc
|
39 |
282 |
2.71e-135 |
SMART |
|
Blast:DYNc
|
426 |
539 |
4e-17 |
BLAST |
|
GED
|
562 |
653 |
9.88e-30 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000188251
AA Change: V208A
PolyPhen 2
Score 0.848 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000141038
Gene: ENSMUSG00000023341
AA Change: V208A
| Domain | Start | End | E-Value | Type |
|---|
|
DYNc
|
39 |
282 |
1.3e-137 |
SMART |
|
low complexity region
|
592 |
603 |
N/A |
INTRINSIC |
|
low complexity region
|
619 |
637 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190097
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190447
AA Change: V208A
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000140229
Gene: ENSMUSG00000023341
AA Change: V208A
| Domain | Start | End | E-Value | Type |
|---|
|
DYNc
|
39 |
282 |
1.3e-137 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 16 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Armc8 |
T |
C |
9: 99,369,966 (GRCm39) |
E591G |
probably benign |
Het |
| Cers5 |
A |
G |
15: 99,670,598 (GRCm39) |
|
probably benign |
Het |
| Cgrrf1 |
T |
C |
14: 47,091,223 (GRCm39) |
V249A |
probably benign |
Het |
| Kctd1 |
T |
C |
18: 15,107,143 (GRCm39) |
E178G |
probably damaging |
Het |
| Mpp7 |
G |
A |
18: 7,461,678 (GRCm39) |
P65L |
possibly damaging |
Het |
| Pacs2 |
T |
C |
12: 113,024,700 (GRCm39) |
S427P |
probably benign |
Het |
| Pdzrn4 |
A |
G |
15: 92,667,692 (GRCm39) |
I615V |
probably benign |
Het |
| Ptpn1 |
C |
A |
2: 167,816,742 (GRCm39) |
Q266K |
probably damaging |
Het |
| Snx18 |
G |
A |
13: 113,753,422 (GRCm39) |
Q504* |
probably null |
Het |
| Sppl2c |
C |
T |
11: 104,078,141 (GRCm39) |
P314S |
probably benign |
Het |
| Tbx15 |
A |
G |
3: 99,161,209 (GRCm39) |
|
probably benign |
Het |
| Tdrd6 |
G |
A |
17: 43,938,933 (GRCm39) |
T705I |
probably benign |
Het |
| Tex11 |
C |
A |
X: 99,977,021 (GRCm39) |
A487S |
possibly damaging |
Het |
| Vmn2r113 |
T |
C |
17: 23,177,105 (GRCm39) |
S630P |
probably damaging |
Het |
| Zdbf2 |
T |
A |
1: 63,342,224 (GRCm39) |
V201D |
possibly damaging |
Het |
| Zer1 |
A |
G |
2: 30,003,297 (GRCm39) |
I40T |
probably benign |
Het |
|
| Other mutations in Mx2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00421:Mx2
|
APN |
16 |
97,345,678 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01111:Mx2
|
APN |
16 |
97,359,919 (GRCm39) |
missense |
probably benign |
|
|
IGL02103:Mx2
|
APN |
16 |
97,345,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02678:Mx2
|
APN |
16 |
97,357,320 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03166:Mx2
|
APN |
16 |
97,347,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03323:Mx2
|
APN |
16 |
97,347,575 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0254:Mx2
|
UTSW |
16 |
97,357,295 (GRCm39) |
missense |
probably benign |
|
|
R0699:Mx2
|
UTSW |
16 |
97,345,753 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1180:Mx2
|
UTSW |
16 |
97,357,209 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1702:Mx2
|
UTSW |
16 |
97,359,883 (GRCm39) |
missense |
probably benign |
|
|
R1762:Mx2
|
UTSW |
16 |
97,339,903 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1922:Mx2
|
UTSW |
16 |
97,361,551 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2049:Mx2
|
UTSW |
16 |
97,339,903 (GRCm39) |
missense |
probably benign |
0.09 |
|
R2141:Mx2
|
UTSW |
16 |
97,339,903 (GRCm39) |
missense |
probably benign |
0.09 |
|
R2142:Mx2
|
UTSW |
16 |
97,339,903 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4079:Mx2
|
UTSW |
16 |
97,357,236 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4553:Mx2
|
UTSW |
16 |
97,353,205 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R4594:Mx2
|
UTSW |
16 |
97,348,632 (GRCm39) |
nonsense |
probably null |
|
|
R5211:Mx2
|
UTSW |
16 |
97,348,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5785:Mx2
|
UTSW |
16 |
97,339,904 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6091:Mx2
|
UTSW |
16 |
97,347,635 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7250:Mx2
|
UTSW |
16 |
97,348,664 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7485:Mx2
|
UTSW |
16 |
97,346,918 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7793:Mx2
|
UTSW |
16 |
97,348,083 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7816:Mx2
|
UTSW |
16 |
97,346,812 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGACTGGATAGCTAGGCTTTACC -3'
(R):5'- TGGCCTCATTTAGACCCTGAG -3'
Sequencing Primer
(F):5'- ACCTCAACGTTTGATGGAGAC -3'
(R):5'- TCATTTAGACCCTGAGCATGG -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation