Incidental Mutation 'R1326:Mier2'
| ID |
157221 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mier2
|
| Ensembl Gene |
ENSMUSG00000042570 |
| Gene Name |
MIER family member 2 |
| Synonyms |
2700087H15Rik |
| MMRRC Submission |
039392-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.350)
|
| Stock # |
R1326 (G1)
|
| Quality Score |
206 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
79376079-79391033 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 79380543 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 289
(F289S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127387
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062855]
[ENSMUST00000164895]
[ENSMUST00000165028]
[ENSMUST00000165778]
[ENSMUST00000165866]
[ENSMUST00000167183]
[ENSMUST00000167689]
[ENSMUST00000170018]
[ENSMUST00000172158]
|
| AlphaFold |
Q3U3N0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000062855
AA Change: F287S
PolyPhen 2
Score 0.651 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000059864
Gene: ENSMUSG00000042570
AA Change: F287S
| 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: F289S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000127387
Gene: ENSMUSG00000042570
AA Change: F289S
| 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: ENSMUST00000168601
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167760
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170950
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170018
|
| 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 |
|
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.8%
- 10x: 94.7%
- 20x: 87.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap5 |
G |
A |
12: 52,565,153 (GRCm39) |
S708N |
possibly damaging |
Het |
| Armc3 |
T |
C |
2: 19,314,935 (GRCm39) |
*882Q |
probably null |
Het |
| Atp13a3 |
G |
A |
16: 30,171,128 (GRCm39) |
L306F |
probably damaging |
Het |
| Cyp2d9 |
T |
C |
15: 82,339,357 (GRCm39) |
I130T |
possibly damaging |
Het |
| Ect2l |
C |
T |
10: 18,041,290 (GRCm39) |
R296H |
probably benign |
Het |
| Eomes |
C |
T |
9: 118,313,565 (GRCm39) |
Q518* |
probably null |
Het |
| Errfi1 |
T |
C |
4: 150,949,621 (GRCm39) |
V6A |
possibly damaging |
Het |
| Fezf2 |
T |
C |
14: 12,342,644 (GRCm38) |
N407S |
probably benign |
Het |
| Fpgs |
T |
C |
2: 32,582,592 (GRCm39) |
|
probably null |
Het |
| Fsbp |
A |
G |
4: 11,579,891 (GRCm39) |
Y53C |
probably damaging |
Het |
| Hspd1 |
T |
C |
1: 55,119,418 (GRCm39) |
|
probably null |
Het |
| Ifna7 |
A |
T |
4: 88,734,931 (GRCm39) |
E156V |
possibly damaging |
Het |
| Map1a |
C |
T |
2: 121,136,671 (GRCm39) |
Q2258* |
probably null |
Het |
| Mmp16 |
A |
G |
4: 18,054,517 (GRCm39) |
N341S |
possibly damaging |
Het |
| Moxd2 |
T |
C |
6: 40,857,288 (GRCm39) |
T491A |
probably benign |
Het |
| Narf |
T |
A |
11: 121,133,379 (GRCm39) |
L60Q |
probably damaging |
Het |
| Pa2g4 |
T |
C |
10: 128,395,142 (GRCm39) |
D341G |
probably benign |
Het |
| Parp1 |
T |
A |
1: 180,428,023 (GRCm39) |
V991D |
probably damaging |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Slc1a4 |
A |
G |
11: 20,282,159 (GRCm39) |
L105P |
probably damaging |
Het |
| Slc27a2 |
T |
A |
2: 126,406,690 (GRCm39) |
Y125N |
probably damaging |
Het |
| Sorl1 |
A |
G |
9: 41,943,092 (GRCm39) |
V928A |
probably benign |
Het |
| Spata31e2 |
G |
T |
1: 26,723,011 (GRCm39) |
P723H |
probably damaging |
Het |
| Usp31 |
G |
C |
7: 121,247,525 (GRCm39) |
S1306C |
probably 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 |
|
|
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 |
|
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'- ACCCACCTTGTTGGCCTGAATC -3'
(R):5'- GGTGTCAGTGTTCCATGTCACTCC -3'
Sequencing Primer
(F):5'- GCCTGAATCAGATGAAAGTTCTTCC -3'
(R):5'- AGTGCAGTTACTCCTGACAG -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation