Incidental Mutation 'IGL00421:Mx2'
| ID |
332376 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL00421
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
97337281-97362101 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 97345678 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 32
(N32I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141038
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024112]
[ENSMUST00000188251]
[ENSMUST00000190447]
|
| AlphaFold |
Q9WVP9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000024112
AA Change: N32I
PolyPhen 2
Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000024112
Gene: ENSMUSG00000023341
AA Change: N32I
| 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 |
probably damaging
Transcript: ENSMUST00000188251
AA Change: N32I
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000141038
Gene: ENSMUSG00000023341
AA Change: N32I
| 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 |
possibly damaging
Transcript: ENSMUST00000190447
AA Change: N32I
PolyPhen 2
Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000140229
Gene: ENSMUSG00000023341
AA Change: N32I
| Domain | Start | End | E-Value | Type |
|---|
|
DYNc
|
39 |
282 |
1.3e-137 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap8 |
T |
C |
17: 32,536,254 (GRCm39) |
Y53C |
probably damaging |
Het |
| Ampd3 |
C |
T |
7: 110,402,354 (GRCm39) |
R453C |
probably benign |
Het |
| Apob |
A |
C |
12: 8,060,197 (GRCm39) |
D2860A |
probably damaging |
Het |
| Arhgef1 |
C |
A |
7: 24,607,784 (GRCm39) |
R52S |
possibly damaging |
Het |
| Barhl2 |
C |
T |
5: 106,603,365 (GRCm39) |
A265T |
possibly damaging |
Het |
| Cacna1i |
A |
T |
15: 80,266,220 (GRCm39) |
D1569V |
probably damaging |
Het |
| Clic6 |
A |
T |
16: 92,296,196 (GRCm39) |
E285D |
probably damaging |
Het |
| Dok5 |
T |
G |
2: 170,671,876 (GRCm39) |
|
probably null |
Het |
| Gpr89 |
A |
G |
3: 96,805,839 (GRCm39) |
F24S |
probably damaging |
Het |
| Grsf1 |
T |
C |
5: 88,818,137 (GRCm39) |
D84G |
probably damaging |
Het |
| Kif27 |
T |
C |
13: 58,491,703 (GRCm39) |
K479E |
probably damaging |
Het |
| Myo16 |
G |
T |
8: 10,488,889 (GRCm39) |
V687F |
probably damaging |
Het |
| Nlrp3 |
A |
G |
11: 59,456,769 (GRCm39) |
D977G |
probably damaging |
Het |
| Nol6 |
A |
T |
4: 41,123,374 (GRCm39) |
V97E |
possibly damaging |
Het |
| Pcdh15 |
T |
A |
10: 74,021,177 (GRCm39) |
Y130* |
probably null |
Het |
| Pnpla7 |
T |
A |
2: 24,866,327 (GRCm39) |
|
probably null |
Het |
| Pramel51 |
A |
T |
12: 88,143,882 (GRCm39) |
D310E |
probably benign |
Het |
| Prcc |
A |
T |
3: 87,779,515 (GRCm39) |
|
probably null |
Het |
| Sbf2 |
A |
C |
7: 109,975,039 (GRCm39) |
|
probably benign |
Het |
| Secisbp2l |
C |
A |
2: 125,585,776 (GRCm39) |
V859F |
probably damaging |
Het |
| Sptbn2 |
C |
A |
19: 4,774,733 (GRCm39) |
Q129K |
possibly damaging |
Het |
| Srrm2 |
G |
A |
17: 24,031,452 (GRCm39) |
S295N |
probably benign |
Het |
| Tacr3 |
A |
C |
3: 134,560,582 (GRCm39) |
I174L |
probably benign |
Het |
| Tchp |
A |
C |
5: 114,846,794 (GRCm39) |
D27A |
probably benign |
Het |
| Usp31 |
A |
T |
7: 121,247,873 (GRCm39) |
V1190D |
probably damaging |
Het |
| Zfp462 |
A |
G |
4: 55,023,576 (GRCm39) |
T2122A |
probably benign |
Het |
|
| Other mutations in Mx2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
| Posted On |
2015-08-05 |
Incidental Mutation