Incidental Mutation 'R5785:Mx2'
| ID |
447981 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mx2
|
| Ensembl Gene |
ENSMUSG00000023341 |
| Gene Name |
MX dynamin-like GTPase 2 |
| Synonyms |
Mx-2 |
| MMRRC Submission |
043206-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.176)
|
| Stock # |
R5785 (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 T
at 97339904 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 20
(E20V)
|
| 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: E20V
PolyPhen 2
Score 0.262 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000024112
Gene: ENSMUSG00000023341
AA Change: E20V
| 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: E20V
PolyPhen 2
Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000141038
Gene: ENSMUSG00000023341
AA Change: E20V
| 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 |
probably benign
Transcript: ENSMUST00000190447
AA Change: E20V
PolyPhen 2
Score 0.162 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000140229
Gene: ENSMUSG00000023341
AA Change: E20V
| Domain | Start | End | E-Value | Type |
|---|
|
DYNc
|
39 |
282 |
1.3e-137 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A4gnt |
A |
T |
9: 99,502,725 (GRCm39) |
N295I |
probably damaging |
Het |
| Abcg3 |
G |
A |
5: 105,116,036 (GRCm39) |
A266V |
probably damaging |
Het |
| Apbb1 |
C |
A |
7: 105,216,922 (GRCm39) |
D254Y |
probably damaging |
Het |
| Arhgap39 |
T |
C |
15: 76,621,618 (GRCm39) |
M328V |
probably benign |
Het |
| Bub1b |
T |
A |
2: 118,440,325 (GRCm39) |
V143D |
probably damaging |
Het |
| Celsr3 |
A |
G |
9: 108,704,996 (GRCm39) |
D493G |
probably damaging |
Het |
| Cers4 |
T |
A |
8: 4,566,992 (GRCm39) |
|
probably null |
Het |
| Clec4d |
A |
G |
6: 123,251,729 (GRCm39) |
R204G |
probably benign |
Het |
| Cngb1 |
C |
A |
8: 95,980,823 (GRCm39) |
R910L |
possibly damaging |
Het |
| Coro2a |
A |
T |
4: 46,564,691 (GRCm39) |
N18K |
probably benign |
Het |
| Cwf19l1 |
A |
G |
19: 44,110,380 (GRCm39) |
F290S |
probably damaging |
Het |
| Esp18 |
C |
T |
17: 39,720,839 (GRCm39) |
T28I |
probably damaging |
Het |
| Hdac10 |
A |
T |
15: 89,011,148 (GRCm39) |
F205Y |
probably benign |
Het |
| Hhip |
T |
A |
8: 80,724,821 (GRCm39) |
H317L |
possibly damaging |
Het |
| Il36b |
G |
A |
2: 24,044,661 (GRCm39) |
M20I |
probably benign |
Het |
| Ilf3 |
T |
A |
9: 21,306,168 (GRCm39) |
N276K |
probably damaging |
Het |
| Jchain |
T |
C |
5: 88,670,376 (GRCm39) |
N81S |
probably benign |
Het |
| Mei4 |
A |
G |
9: 81,907,600 (GRCm39) |
Y211C |
probably damaging |
Het |
| Ndufa10 |
A |
G |
1: 92,388,096 (GRCm39) |
|
probably null |
Het |
| Nodal |
A |
G |
10: 61,259,456 (GRCm39) |
T298A |
probably damaging |
Het |
| Nvl |
T |
C |
1: 180,966,863 (GRCm39) |
Y47C |
probably damaging |
Het |
| Onecut1 |
C |
T |
9: 74,770,674 (GRCm39) |
R366C |
probably damaging |
Het |
| Or9q1 |
T |
C |
19: 13,804,983 (GRCm39) |
Y259C |
probably damaging |
Het |
| Plekha6 |
G |
C |
1: 133,200,045 (GRCm39) |
R208P |
possibly damaging |
Het |
| Ppp5c |
A |
G |
7: 16,761,616 (GRCm39) |
|
probably null |
Het |
| Prag1 |
A |
G |
8: 36,570,641 (GRCm39) |
E408G |
probably benign |
Het |
| Ptpn21 |
T |
C |
12: 98,648,809 (GRCm39) |
N949S |
probably damaging |
Het |
| Scn7a |
A |
C |
2: 66,527,912 (GRCm39) |
N859K |
possibly damaging |
Het |
| Smarca4 |
T |
C |
9: 21,597,322 (GRCm39) |
I1362T |
probably damaging |
Het |
| Syt12 |
T |
C |
19: 4,501,022 (GRCm39) |
R343G |
possibly damaging |
Het |
| Topbp1 |
T |
C |
9: 103,200,727 (GRCm39) |
S587P |
probably benign |
Het |
| Trim80 |
C |
T |
11: 115,337,301 (GRCm39) |
Q388* |
probably null |
Het |
| Tsc2 |
T |
C |
17: 24,818,861 (GRCm39) |
|
probably null |
Het |
| Vmn2r130 |
T |
A |
17: 23,280,461 (GRCm39) |
S41T |
probably benign |
Het |
| Vmn2r3 |
T |
A |
3: 64,166,444 (GRCm39) |
T896S |
possibly damaging |
Het |
| Xirp2 |
A |
G |
2: 67,340,006 (GRCm39) |
E749G |
probably damaging |
Het |
| Zbtb24 |
G |
A |
10: 41,327,849 (GRCm39) |
G245E |
probably benign |
Het |
| Zfp507 |
A |
G |
7: 35,487,167 (GRCm39) |
V767A |
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 |
|
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 |
|
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'- ATGATCCCCTCCCACATGAG -3'
(R):5'- GACAACATTGCACTGTCCAGG -3'
Sequencing Primer
(F):5'- CCAGAAGGACCCTGGGATG -3'
(R):5'- TTTCCCAGAGCAAGATAAAATCCTGG -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation