Incidental Mutation 'R8834:Mier2'
| ID |
674039 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mier2
|
| Ensembl Gene |
ENSMUSG00000042570 |
| Gene Name |
MIER family member 2 |
| Synonyms |
2700087H15Rik |
| MMRRC Submission |
068662-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.350)
|
| Stock # |
R8834 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
79376079-79391033 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 79386293 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 57
(G57D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127332
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062855]
[ENSMUST00000164895]
[ENSMUST00000165028]
[ENSMUST00000165778]
[ENSMUST00000165866]
[ENSMUST00000167183]
[ENSMUST00000167689]
[ENSMUST00000170018]
|
| AlphaFold |
Q3U3N0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000062855
|
| SMART Domains |
Protein: ENSMUSP00000059864
Gene: ENSMUSG00000042570
| 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 benign
Transcript: ENSMUST00000165028
|
| SMART Domains |
Protein: ENSMUSP00000127387
Gene: ENSMUSG00000042570
| 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 |
unknown
Transcript: ENSMUST00000165866
AA Change: G57D
|
| SMART Domains |
Protein: ENSMUSP00000127332
Gene: ENSMUSG00000042570
AA Change: G57D
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (44/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
A |
G |
7: 119,877,372 (GRCm39) |
T1007A |
probably benign |
Het |
| Adcy6 |
A |
G |
15: 98,498,922 (GRCm39) |
L293P |
possibly damaging |
Het |
| Cacna2d1 |
T |
A |
5: 16,471,735 (GRCm39) |
V260E |
possibly damaging |
Het |
| Capn3 |
T |
A |
2: 120,294,534 (GRCm39) |
F61I |
probably damaging |
Het |
| Cdh9 |
A |
G |
15: 16,850,964 (GRCm39) |
S578G |
probably damaging |
Het |
| Cog4 |
A |
G |
8: 111,608,049 (GRCm39) |
Y714C |
probably damaging |
Het |
| Dnah14 |
T |
G |
1: 181,444,315 (GRCm39) |
F542V |
possibly damaging |
Het |
| Dock8 |
T |
C |
19: 25,140,834 (GRCm39) |
V1350A |
probably benign |
Het |
| Eps8 |
A |
G |
6: 137,504,306 (GRCm39) |
|
probably benign |
Het |
| Fat3 |
C |
T |
9: 15,942,493 (GRCm39) |
G1293E |
probably damaging |
Het |
| Fnip1 |
T |
C |
11: 54,395,581 (GRCm39) |
V985A |
possibly damaging |
Het |
| Frem1 |
T |
C |
4: 82,922,610 (GRCm39) |
D397G |
probably damaging |
Het |
| Gan |
C |
G |
8: 117,885,031 (GRCm39) |
P53R |
|
Het |
| Gcc2 |
T |
C |
10: 58,121,867 (GRCm39) |
|
probably null |
Het |
| Glb1l2 |
C |
T |
9: 26,689,314 (GRCm39) |
|
probably null |
Het |
| Gm973 |
T |
C |
1: 59,563,820 (GRCm39) |
F2L |
|
Het |
| Heatr5a |
A |
G |
12: 51,956,739 (GRCm39) |
|
probably null |
Het |
| Kifc2 |
T |
A |
15: 76,551,250 (GRCm39) |
H681Q |
probably damaging |
Het |
| Krt16 |
T |
A |
11: 100,139,236 (GRCm39) |
S161C |
probably damaging |
Het |
| Lrrc3b |
A |
G |
14: 15,358,562 (GRCm38) |
C15R |
possibly damaging |
Het |
| Lrrc66 |
C |
G |
5: 73,765,928 (GRCm39) |
A372P |
possibly damaging |
Het |
| Ly75 |
C |
T |
2: 60,161,433 (GRCm39) |
R884H |
probably benign |
Het |
| Map2k6 |
T |
A |
11: 110,383,419 (GRCm39) |
C109* |
probably null |
Het |
| Mapk9 |
C |
T |
11: 49,774,010 (GRCm39) |
S389L |
probably damaging |
Het |
| Mis18bp1 |
A |
T |
12: 65,208,419 (GRCm39) |
M98K |
probably benign |
Het |
| Mrtfa |
A |
G |
15: 80,904,511 (GRCm39) |
L196P |
probably benign |
Het |
| Or1e17 |
T |
C |
11: 73,831,164 (GRCm39) |
F31L |
possibly damaging |
Het |
| Pcsk7 |
A |
G |
9: 45,830,589 (GRCm39) |
S456G |
possibly damaging |
Het |
| Phf12 |
T |
A |
11: 77,897,608 (GRCm39) |
C102S |
probably damaging |
Het |
| Ppm1k |
A |
G |
6: 57,502,023 (GRCm39) |
C47R |
probably benign |
Het |
| Rgs10 |
A |
G |
7: 127,990,809 (GRCm39) |
I93T |
probably damaging |
Het |
| Ror2 |
CCCTCCTCCTCCTCCTC |
CCCTCCTCCTCCTC |
13: 53,264,338 (GRCm39) |
|
probably benign |
Het |
| Rusc2 |
T |
A |
4: 43,416,431 (GRCm39) |
F579Y |
possibly damaging |
Het |
| Selplg |
G |
A |
5: 113,957,691 (GRCm39) |
S205L |
possibly damaging |
Het |
| Sh3gl3 |
T |
C |
7: 81,955,999 (GRCm39) |
V109A |
possibly damaging |
Het |
| Tanc2 |
T |
C |
11: 105,807,845 (GRCm39) |
S336P |
|
Het |
| Tlr2 |
C |
A |
3: 83,746,020 (GRCm39) |
R21L |
probably benign |
Het |
| Trpa1 |
C |
T |
1: 14,963,528 (GRCm39) |
V565I |
possibly damaging |
Het |
| Ubqln1 |
A |
T |
13: 58,331,058 (GRCm39) |
S390T |
probably damaging |
Het |
| Ubr3 |
T |
C |
2: 69,833,785 (GRCm39) |
V1514A |
probably benign |
Het |
| Uchl5 |
A |
T |
1: 143,661,968 (GRCm39) |
K81* |
probably null |
Het |
| Unc13b |
T |
C |
4: 43,175,954 (GRCm39) |
F2261L |
unknown |
Het |
| Usp12 |
T |
A |
5: 146,691,327 (GRCm39) |
E142D |
probably benign |
Het |
| V1ra8 |
A |
T |
6: 90,180,622 (GRCm39) |
D275V |
unknown |
Het |
| Zfp804a |
A |
G |
2: 82,089,441 (GRCm39) |
H1090R |
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 |
|
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 |
|
R9052: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'- AAAGAGTTCTGCCTGTGAAGATC -3'
(R):5'- TGTCCAGTGGAACTGCTCAG -3'
Sequencing Primer
(F):5'- CTGCCTGTGAAGATCTGGGAC -3'
(R):5'- AGTGGAACTGCTCAGCCTCTG -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation