Incidental Mutation 'R6282:Mier2'
| ID |
508003 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mier2
|
| Ensembl Gene |
ENSMUSG00000042570 |
| Gene Name |
MIER family member 2 |
| Synonyms |
2700087H15Rik |
| MMRRC Submission |
044452-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.350)
|
| Stock # |
R6282 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
79376079-79391033 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 79380576 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 278
(F278S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127387
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062855]
[ENSMUST00000164895]
[ENSMUST00000165028]
[ENSMUST00000165778]
[ENSMUST00000165866]
[ENSMUST00000167183]
[ENSMUST00000167689]
[ENSMUST00000172158]
[ENSMUST00000170018]
|
| AlphaFold |
Q3U3N0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000062855
AA Change: F276S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000059864
Gene: ENSMUSG00000042570
AA Change: F276S
| 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: F278S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000127387
Gene: ENSMUSG00000042570
AA Change: F278S
| 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 |
noncoding transcript
Transcript: ENSMUST00000167760
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172158
|
| SMART Domains |
Protein: ENSMUSP00000129732
Gene: ENSMUSG00000042570
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
27 |
40 |
N/A |
INTRINSIC |
|
low complexity region
|
157 |
168 |
N/A |
INTRINSIC |
|
low complexity region
|
230 |
244 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170950
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170018
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168601
|
| Meta Mutation Damage Score |
0.2351 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.3%
|
| Validation Efficiency |
98% (45/46) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001O22Rik |
A |
T |
2: 30,690,781 (GRCm39) |
L185Q |
possibly damaging |
Het |
| Abca6 |
A |
T |
11: 110,099,650 (GRCm39) |
C966S |
probably damaging |
Het |
| Atp13a4 |
A |
T |
16: 29,252,822 (GRCm39) |
I708N |
probably benign |
Het |
| Axin1 |
C |
G |
17: 26,362,011 (GRCm39) |
D118E |
probably damaging |
Het |
| Bace2 |
A |
T |
16: 97,216,297 (GRCm39) |
I297F |
probably damaging |
Het |
| Ccdc30 |
T |
A |
4: 119,181,214 (GRCm39) |
D649V |
probably damaging |
Het |
| Cd180 |
G |
A |
13: 102,830,265 (GRCm39) |
A20T |
possibly damaging |
Het |
| Cdk18 |
T |
C |
1: 132,047,758 (GRCm39) |
D112G |
probably damaging |
Het |
| Cuedc1 |
A |
G |
11: 88,074,228 (GRCm39) |
N254S |
probably damaging |
Het |
| Dnah7a |
T |
C |
1: 53,542,760 (GRCm39) |
H2470R |
probably damaging |
Het |
| Drap1 |
G |
A |
19: 5,474,464 (GRCm39) |
|
probably null |
Het |
| Fbxo5 |
T |
A |
10: 5,751,216 (GRCm39) |
K257M |
probably damaging |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Gm12790 |
A |
G |
4: 101,824,713 (GRCm39) |
V185A |
possibly damaging |
Het |
| Gm7361 |
A |
G |
5: 26,465,411 (GRCm39) |
N136S |
probably benign |
Het |
| Il10ra |
C |
A |
9: 45,171,703 (GRCm39) |
C255F |
probably damaging |
Het |
| Insyn2b |
A |
G |
11: 34,352,819 (GRCm39) |
D287G |
possibly damaging |
Het |
| Itgam |
A |
T |
7: 127,684,114 (GRCm39) |
T340S |
probably benign |
Het |
| Ktn1 |
A |
T |
14: 47,901,428 (GRCm39) |
N62I |
probably damaging |
Het |
| Ldb2 |
A |
G |
5: 44,690,007 (GRCm39) |
L204P |
probably damaging |
Het |
| Map2k4 |
T |
C |
11: 65,597,842 (GRCm39) |
T90A |
possibly damaging |
Het |
| Mettl3 |
A |
T |
14: 52,535,428 (GRCm39) |
D287E |
probably benign |
Het |
| Mis18bp1 |
A |
G |
12: 65,195,937 (GRCm39) |
M609T |
probably benign |
Het |
| Myo1d |
A |
T |
11: 80,448,338 (GRCm39) |
V929D |
probably damaging |
Het |
| Naprt |
A |
T |
15: 75,763,828 (GRCm39) |
M364K |
probably benign |
Het |
| Nod2 |
T |
A |
8: 89,397,088 (GRCm39) |
C833S |
probably benign |
Het |
| Nrip3 |
C |
T |
7: 109,362,686 (GRCm39) |
|
probably null |
Het |
| Ntsr2 |
A |
G |
12: 16,708,426 (GRCm39) |
Y320C |
probably damaging |
Het |
| Or14j8 |
G |
A |
17: 38,263,315 (GRCm39) |
S200F |
possibly damaging |
Het |
| Or4p7 |
C |
A |
2: 88,221,877 (GRCm39) |
C95* |
probably null |
Het |
| Or51h1 |
G |
A |
7: 102,308,854 (GRCm39) |
M275I |
probably benign |
Het |
| Osbpl3 |
A |
T |
6: 50,325,063 (GRCm39) |
|
probably null |
Het |
| Pcdhb3 |
C |
T |
18: 37,434,699 (GRCm39) |
R222C |
probably damaging |
Het |
| Pik3cd |
G |
T |
4: 149,744,200 (GRCm39) |
R184S |
probably benign |
Het |
| Pramel32 |
T |
C |
4: 88,548,291 (GRCm39) |
E38G |
probably damaging |
Het |
| Rad50 |
A |
T |
11: 53,560,597 (GRCm39) |
|
probably null |
Het |
| Rad51ap2 |
A |
T |
12: 11,507,560 (GRCm39) |
H494L |
probably benign |
Het |
| Rbm25 |
T |
C |
12: 83,722,863 (GRCm39) |
M762T |
probably damaging |
Het |
| Sars1 |
G |
T |
3: 108,335,590 (GRCm39) |
S338* |
probably null |
Het |
| Usp35 |
T |
C |
7: 96,975,155 (GRCm39) |
E6G |
probably damaging |
Het |
| Vash2 |
T |
C |
1: 190,692,422 (GRCm39) |
Y251C |
probably benign |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Wdr20 |
T |
A |
12: 110,763,443 (GRCm39) |
|
probably benign |
Het |
| Wfdc1 |
G |
A |
8: 120,406,146 (GRCm39) |
C87Y |
probably damaging |
Het |
| Zfp985 |
T |
A |
4: 147,667,805 (GRCm39) |
H224Q |
probably benign |
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 |
|
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 |
|
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'- CTTCCCATGAACACGGAAGC -3'
(R):5'- CAGTGTTCCATGTCACTCCTGG -3'
Sequencing Primer
(F):5'- CGGAAGCCATGTTCAAAGTTCCTG -3'
(R):5'- GTATGACAGTGCAGTTACTCCTGAC -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation