Incidental Mutation 'R4553:Mx2'
| ID |
341794 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mx2
|
| Ensembl Gene |
ENSMUSG00000023341 |
| Gene Name |
MX dynamin-like GTPase 2 |
| Synonyms |
Mx-2 |
| MMRRC Submission |
041595-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.178)
|
| Stock # |
R4553 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
97337281-97362101 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 97353205 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 398
(T398A)
|
| 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: T398A
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000024112
Gene: ENSMUSG00000023341
AA Change: T398A
| 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: T398A
PolyPhen 2
Score 0.518 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000141038
Gene: ENSMUSG00000023341
AA Change: T398A
| 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: T398A
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000140229
Gene: ENSMUSG00000023341
AA Change: T398A
| Domain | Start | End | E-Value | Type |
|---|
|
DYNc
|
39 |
282 |
1.3e-137 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1500011B03Rik |
T |
C |
5: 114,951,254 (GRCm39) |
Y49C |
probably damaging |
Het |
| Adat1 |
T |
C |
8: 112,716,912 (GRCm39) |
T32A |
probably damaging |
Het |
| Adra2a |
T |
C |
19: 54,035,166 (GRCm39) |
V174A |
possibly damaging |
Het |
| Armcx5 |
T |
A |
X: 134,647,256 (GRCm39) |
V444D |
probably damaging |
Het |
| Cand2 |
C |
A |
6: 115,769,172 (GRCm39) |
R661S |
probably damaging |
Het |
| Cd274 |
T |
C |
19: 29,357,848 (GRCm39) |
V180A |
probably benign |
Het |
| Crat |
T |
C |
2: 30,298,229 (GRCm39) |
T157A |
probably benign |
Het |
| Cts6 |
G |
A |
13: 61,345,407 (GRCm39) |
P230L |
probably damaging |
Het |
| Dppa2 |
A |
G |
16: 48,130,877 (GRCm39) |
Y3C |
possibly damaging |
Het |
| Epgn |
A |
T |
5: 91,175,421 (GRCm39) |
K14* |
probably null |
Het |
| Garin1a |
A |
G |
6: 29,287,705 (GRCm39) |
I210M |
probably benign |
Het |
| Gsap |
A |
T |
5: 21,495,569 (GRCm39) |
D79V |
probably damaging |
Het |
| Hgfac |
T |
A |
5: 35,200,200 (GRCm39) |
C130S |
probably damaging |
Het |
| Ifi35 |
T |
C |
11: 101,348,717 (GRCm39) |
V188A |
probably damaging |
Het |
| Iqsec2 |
A |
G |
X: 150,994,277 (GRCm39) |
H585R |
probably benign |
Het |
| Itih4 |
T |
C |
14: 30,622,910 (GRCm39) |
L842P |
probably damaging |
Het |
| Kif3a |
C |
A |
11: 53,469,745 (GRCm39) |
L119I |
possibly damaging |
Het |
| Lrp2 |
T |
C |
2: 69,343,629 (GRCm39) |
D910G |
probably benign |
Het |
| Lyve1 |
T |
C |
7: 110,451,567 (GRCm39) |
|
probably null |
Het |
| Mtss2 |
A |
G |
8: 111,465,137 (GRCm39) |
T464A |
probably damaging |
Het |
| Nlrp4e |
T |
C |
7: 23,020,404 (GRCm39) |
M297T |
probably benign |
Het |
| Nog |
A |
G |
11: 89,192,248 (GRCm39) |
L200P |
probably damaging |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Papolb |
T |
C |
5: 142,514,933 (GRCm39) |
I237V |
probably benign |
Het |
| Phf11b |
G |
A |
14: 59,578,734 (GRCm39) |
P11S |
probably benign |
Het |
| Plcb1 |
T |
C |
2: 135,177,413 (GRCm39) |
S582P |
probably benign |
Het |
| Pld1 |
G |
T |
3: 28,178,851 (GRCm39) |
R915L |
probably benign |
Het |
| Sell |
C |
T |
1: 163,899,685 (GRCm39) |
T34I |
probably benign |
Het |
| Slc34a1 |
G |
A |
13: 55,559,874 (GRCm39) |
|
probably null |
Het |
| Slc8b1 |
T |
C |
5: 120,667,663 (GRCm39) |
V432A |
probably damaging |
Het |
| Tipin |
T |
A |
9: 64,195,385 (GRCm39) |
|
probably null |
Het |
| Vmn1r117 |
A |
T |
7: 20,617,517 (GRCm39) |
F177Y |
probably damaging |
Het |
| Xab2 |
T |
C |
8: 3,661,015 (GRCm39) |
T700A |
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 |
|
R3010:Mx2
|
UTSW |
16 |
97,347,999 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4079:Mx2
|
UTSW |
16 |
97,357,236 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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'- CTCCATACTGTTCTGCTGGG -3'
(R):5'- TGATGTCTTGACCTGGGACTTCC -3'
Sequencing Primer
(F):5'- AGGTGATGCTCCTGCCTTCAG -3'
(R):5'- CTAGCACCCAGAACTGTGAGTG -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation