Incidental Mutation 'R9052:Mier2'
| ID |
688463 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mier2
|
| Ensembl Gene |
ENSMUSG00000042570 |
| Gene Name |
MIER family member 2 |
| Synonyms |
2700087H15Rik |
| MMRRC Submission |
068878-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.432)
|
| Stock # |
R9052 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
79376079-79391033 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 79384274 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 166
(R166W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127387
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062855]
[ENSMUST00000164895]
[ENSMUST00000165028]
[ENSMUST00000165778]
[ENSMUST00000165866]
[ENSMUST00000167183]
[ENSMUST00000167689]
[ENSMUST00000170018]
|
| AlphaFold |
Q3U3N0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000062855
AA Change: R164W
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000059864
Gene: ENSMUSG00000042570
AA Change: R164W
| Domain | Start | End | E-Value | Type |
|---|
|
ELM2
|
194 |
246 |
1.46e-9 |
SMART |
|
SANT
|
295 |
344 |
6.01e-8 |
SMART |
|
low complexity region
|
441 |
458 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164895
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000165028
AA Change: R166W
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000127387
Gene: ENSMUSG00000042570
AA Change: R166W
| Domain | Start | End | E-Value | Type |
|---|
|
ELM2
|
196 |
248 |
1.46e-9 |
SMART |
|
SANT
|
297 |
346 |
6.01e-8 |
SMART |
|
low complexity region
|
443 |
460 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165778
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165866
|
| SMART Domains |
Protein: ENSMUSP00000127332
Gene: ENSMUSG00000042570
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
low complexity region
|
42 |
64 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167183
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167689
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170018
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
99% (69/70) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110059G10Rik |
T |
C |
9: 122,778,031 (GRCm39) |
E71G |
probably damaging |
Het |
| 2610021A01Rik |
G |
T |
7: 41,275,449 (GRCm39) |
G384V |
probably benign |
Het |
| 4931406B18Rik |
T |
A |
7: 43,147,631 (GRCm39) |
R247* |
probably null |
Het |
| Abca4 |
G |
T |
3: 121,940,908 (GRCm39) |
V1576F |
possibly damaging |
Het |
| Acsl6 |
A |
T |
11: 54,232,615 (GRCm39) |
T489S |
possibly damaging |
Het |
| Adcy8 |
C |
T |
15: 64,792,764 (GRCm39) |
R64H |
probably benign |
Het |
| Atad2b |
C |
A |
12: 5,015,982 (GRCm39) |
F569L |
probably damaging |
Het |
| Atp2c1 |
A |
T |
9: 105,330,032 (GRCm39) |
I266N |
probably damaging |
Het |
| Atp8a1 |
A |
G |
5: 67,936,301 (GRCm39) |
|
probably null |
Het |
| Coch |
T |
C |
12: 51,640,408 (GRCm39) |
M1T |
probably null |
Het |
| Col5a3 |
C |
A |
9: 20,710,733 (GRCm39) |
R537L |
unknown |
Het |
| Crb1 |
C |
T |
1: 139,171,161 (GRCm39) |
R743Q |
possibly damaging |
Het |
| Crybg2 |
T |
C |
4: 133,803,035 (GRCm39) |
F889L |
probably damaging |
Het |
| Cyp4f15 |
C |
T |
17: 32,911,589 (GRCm39) |
T157I |
probably damaging |
Het |
| D630045J12Rik |
G |
T |
6: 38,154,544 (GRCm39) |
Q1212K |
probably damaging |
Het |
| Dennd1a |
A |
G |
2: 37,911,463 (GRCm39) |
Y175H |
probably damaging |
Het |
| Dhcr7 |
C |
A |
7: 143,395,060 (GRCm39) |
T192K |
possibly damaging |
Het |
| Dlg1 |
T |
A |
16: 31,656,942 (GRCm39) |
I612N |
probably damaging |
Het |
| Dmpk |
G |
A |
7: 18,821,614 (GRCm39) |
V291M |
probably damaging |
Het |
| Dnajc6 |
T |
C |
4: 101,496,617 (GRCm39) |
V928A |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,206,045 (GRCm39) |
Y859C |
probably damaging |
Het |
| Dst |
C |
T |
1: 34,236,411 (GRCm39) |
Q1592* |
probably null |
Het |
| Gm10226 |
T |
A |
17: 21,910,959 (GRCm39) |
C65S |
possibly damaging |
Het |
| Helz2 |
T |
C |
2: 180,881,968 (GRCm39) |
K275R |
possibly damaging |
Het |
| Hltf |
A |
G |
3: 20,152,246 (GRCm39) |
T581A |
probably damaging |
Het |
| Ighv1-24 |
C |
T |
12: 114,736,555 (GRCm39) |
C115Y |
probably damaging |
Het |
| Il18 |
C |
T |
9: 50,489,090 (GRCm39) |
L40F |
possibly damaging |
Het |
| Isg20 |
A |
G |
7: 78,566,390 (GRCm39) |
D113G |
probably damaging |
Het |
| Itgb3 |
A |
T |
11: 104,524,413 (GRCm39) |
D183V |
probably damaging |
Het |
| Kif12 |
C |
T |
4: 63,090,068 (GRCm39) |
V28M |
probably damaging |
Het |
| Manbal |
T |
C |
2: 157,221,107 (GRCm39) |
L28P |
probably damaging |
Het |
| Masp1 |
T |
A |
16: 23,339,350 (GRCm39) |
|
probably benign |
Het |
| Mfap5 |
A |
G |
6: 122,501,463 (GRCm39) |
T72A |
probably benign |
Het |
| Mrps5 |
G |
A |
2: 127,433,876 (GRCm39) |
|
probably benign |
Het |
| Ms4a1 |
T |
A |
19: 11,233,954 (GRCm39) |
T101S |
probably benign |
Het |
| Myo3b |
A |
G |
2: 70,062,747 (GRCm39) |
M344V |
probably benign |
Het |
| Naaladl1 |
T |
G |
19: 6,158,716 (GRCm39) |
F283V |
probably benign |
Het |
| Nacc1 |
A |
C |
8: 85,403,377 (GRCm39) |
V166G |
probably damaging |
Het |
| Nwd2 |
A |
T |
5: 63,961,773 (GRCm39) |
R452S |
probably damaging |
Het |
| Or1n1b |
T |
C |
2: 36,780,105 (GRCm39) |
T252A |
probably damaging |
Het |
| Or1x6 |
G |
A |
11: 50,938,938 (GRCm39) |
M1I |
probably null |
Het |
| Or5k16 |
T |
C |
16: 58,736,561 (GRCm39) |
T148A |
probably benign |
Het |
| Or6c214 |
C |
G |
10: 129,591,094 (GRCm39) |
C75S |
possibly damaging |
Het |
| Pik3cg |
T |
C |
12: 32,245,708 (GRCm39) |
I847V |
possibly damaging |
Het |
| Plcz1 |
G |
A |
6: 139,968,905 (GRCm39) |
H178Y |
probably damaging |
Het |
| Prkdc |
T |
A |
16: 15,508,160 (GRCm39) |
M937K |
probably benign |
Het |
| Prr14l |
A |
T |
5: 32,987,478 (GRCm39) |
C672* |
probably null |
Het |
| Rasl11a |
C |
A |
5: 146,782,107 (GRCm39) |
D27E |
probably benign |
Het |
| Rbm27 |
T |
C |
18: 42,465,893 (GRCm39) |
S860P |
probably damaging |
Het |
| Rfxap |
G |
A |
3: 54,715,155 (GRCm39) |
|
probably benign |
Het |
| Rhbdf2 |
A |
C |
11: 116,494,758 (GRCm39) |
L306R |
probably benign |
Het |
| Rigi |
C |
A |
4: 40,208,459 (GRCm39) |
V826L |
probably benign |
Het |
| Rnf123 |
A |
T |
9: 107,936,930 (GRCm39) |
V875E |
probably damaging |
Het |
| Sh3bp2 |
A |
G |
5: 34,709,164 (GRCm39) |
|
probably benign |
Het |
| Slc7a9 |
A |
G |
7: 35,153,017 (GRCm39) |
K145R |
probably benign |
Het |
| Slco5a1 |
A |
T |
1: 13,060,397 (GRCm39) |
V108E |
possibly damaging |
Het |
| Stat2 |
A |
G |
10: 128,117,538 (GRCm39) |
E352G |
probably damaging |
Het |
| Synj1 |
A |
T |
16: 90,735,728 (GRCm39) |
S1408R |
probably benign |
Het |
| Tent5c |
A |
T |
3: 100,380,618 (GRCm39) |
I46K |
probably benign |
Het |
| Tgs1 |
T |
A |
4: 3,585,166 (GRCm39) |
M102K |
probably benign |
Het |
| Tnfrsf11a |
G |
A |
1: 105,754,854 (GRCm39) |
A309T |
possibly damaging |
Het |
| Ttc23 |
C |
A |
7: 67,342,687 (GRCm39) |
C268* |
probably null |
Het |
| Uhrf2 |
T |
C |
19: 30,070,236 (GRCm39) |
F795S |
probably damaging |
Het |
| Urgcp |
A |
G |
11: 5,673,153 (GRCm39) |
W41R |
probably damaging |
Het |
| Uso1 |
G |
T |
5: 92,328,422 (GRCm39) |
V340F |
probably damaging |
Het |
| Vta1 |
A |
C |
10: 14,551,692 (GRCm39) |
I169R |
probably benign |
Het |
| Zfp317 |
A |
G |
9: 19,556,568 (GRCm39) |
I59V |
probably benign |
Het |
| Zfp799 |
G |
A |
17: 33,039,786 (GRCm39) |
T160I |
probably benign |
Het |
| Zfp955a |
G |
T |
17: 33,461,279 (GRCm39) |
H284Q |
possibly damaging |
Het |
|
| Other mutations in Mier2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01412:Mier2
|
APN |
10 |
79,377,014 (GRCm39) |
makesense |
probably null |
|
|
IGL01761:Mier2
|
APN |
10 |
79,384,186 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01845:Mier2
|
APN |
10 |
79,385,418 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL02336:Mier2
|
APN |
10 |
79,384,184 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02882:Mier2
|
APN |
10 |
79,383,555 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02902:Mier2
|
APN |
10 |
79,385,456 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0325:Mier2
|
UTSW |
10 |
79,378,430 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0972:Mier2
|
UTSW |
10 |
79,380,455 (GRCm39) |
unclassified |
probably benign |
|
|
R1326:Mier2
|
UTSW |
10 |
79,380,543 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1333:Mier2
|
UTSW |
10 |
79,380,991 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1721:Mier2
|
UTSW |
10 |
79,384,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1867:Mier2
|
UTSW |
10 |
79,384,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1868:Mier2
|
UTSW |
10 |
79,384,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2015:Mier2
|
UTSW |
10 |
79,377,036 (GRCm39) |
splice site |
probably null |
|
|
R2273:Mier2
|
UTSW |
10 |
79,380,368 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2274:Mier2
|
UTSW |
10 |
79,380,368 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3729:Mier2
|
UTSW |
10 |
79,380,876 (GRCm39) |
unclassified |
probably benign |
|
|
R3874:Mier2
|
UTSW |
10 |
79,377,631 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R3881:Mier2
|
UTSW |
10 |
79,384,584 (GRCm39) |
splice site |
probably null |
|
|
R4755:Mier2
|
UTSW |
10 |
79,385,031 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4758:Mier2
|
UTSW |
10 |
79,386,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5070:Mier2
|
UTSW |
10 |
79,385,411 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6282:Mier2
|
UTSW |
10 |
79,380,576 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6785:Mier2
|
UTSW |
10 |
79,380,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6861:Mier2
|
UTSW |
10 |
79,376,990 (GRCm39) |
start gained |
probably benign |
|
|
R6869:Mier2
|
UTSW |
10 |
79,378,503 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6897:Mier2
|
UTSW |
10 |
79,380,573 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6902:Mier2
|
UTSW |
10 |
79,376,673 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R6946:Mier2
|
UTSW |
10 |
79,376,673 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R6968:Mier2
|
UTSW |
10 |
79,376,476 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R6971:Mier2
|
UTSW |
10 |
79,378,263 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7072:Mier2
|
UTSW |
10 |
79,376,133 (GRCm39) |
missense |
unknown |
|
|
R7350:Mier2
|
UTSW |
10 |
79,376,132 (GRCm39) |
missense |
unknown |
|
|
R7443:Mier2
|
UTSW |
10 |
79,376,289 (GRCm39) |
missense |
unknown |
|
|
R7506:Mier2
|
UTSW |
10 |
79,386,176 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7545:Mier2
|
UTSW |
10 |
79,377,028 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7625:Mier2
|
UTSW |
10 |
79,378,543 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7669:Mier2
|
UTSW |
10 |
79,385,510 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7895:Mier2
|
UTSW |
10 |
79,377,719 (GRCm39) |
start gained |
probably benign |
|
|
R8494:Mier2
|
UTSW |
10 |
79,377,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8520:Mier2
|
UTSW |
10 |
79,378,263 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8834:Mier2
|
UTSW |
10 |
79,386,293 (GRCm39) |
missense |
unknown |
|
|
R8978:Mier2
|
UTSW |
10 |
79,376,790 (GRCm39) |
missense |
unknown |
|
|
R9005:Mier2
|
UTSW |
10 |
79,384,274 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9007:Mier2
|
UTSW |
10 |
79,384,274 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9008:Mier2
|
UTSW |
10 |
79,384,274 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9018:Mier2
|
UTSW |
10 |
79,384,274 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9051:Mier2
|
UTSW |
10 |
79,384,274 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9108:Mier2
|
UTSW |
10 |
79,377,756 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9111:Mier2
|
UTSW |
10 |
79,381,285 (GRCm39) |
unclassified |
probably benign |
|
|
R9121:Mier2
|
UTSW |
10 |
79,377,594 (GRCm39) |
missense |
|
|
|
R9281:Mier2
|
UTSW |
10 |
79,378,294 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9514:Mier2
|
UTSW |
10 |
79,377,496 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:Mier2
|
UTSW |
10 |
79,376,335 (GRCm39) |
missense |
unknown |
|
|
Z1177:Mier2
|
UTSW |
10 |
79,376,295 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGAAGAGTAACCACGCAGCC -3'
(R):5'- CCATGGTGACTCATAGTGGTG -3'
Sequencing Primer
(F):5'- GAGTAACCACGCAGCCATATAGG -3'
(R):5'- AGATAGGAATGGGTCTCTGCC -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation