Incidental Mutation 'R9111:Mier2'
| ID |
723517 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mier2
|
| Ensembl Gene |
ENSMUSG00000042570 |
| Gene Name |
MIER family member 2 |
| Synonyms |
2700087H15Rik |
| MMRRC Submission |
068971-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.350)
|
| Stock # |
R9111 (G1)
|
| Quality Score |
53.0072 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
79376079-79391033 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 79381285 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129732
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062855]
[ENSMUST00000164895]
[ENSMUST00000165028]
[ENSMUST00000165778]
[ENSMUST00000165866]
[ENSMUST00000167183]
[ENSMUST00000167689]
[ENSMUST00000170018]
[ENSMUST00000172158]
|
| 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 |
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
|
| 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 |
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
100% (47/47) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb10 |
T |
C |
8: 124,696,646 (GRCm39) |
N210S |
|
Het |
| Adamts17 |
A |
G |
7: 66,489,648 (GRCm39) |
D22G |
probably damaging |
Het |
| Aldh3b1 |
T |
C |
19: 3,971,797 (GRCm39) |
E58G |
probably damaging |
Het |
| Atg2a |
G |
A |
19: 6,311,534 (GRCm39) |
A1830T |
probably damaging |
Het |
| Birc6 |
T |
C |
17: 74,966,340 (GRCm39) |
V4118A |
probably damaging |
Het |
| Ccdc28a |
G |
A |
10: 18,100,750 (GRCm39) |
P73S |
possibly damaging |
Het |
| Cdc42bpb |
A |
T |
12: 111,284,903 (GRCm39) |
D771E |
probably benign |
Het |
| Cdk14 |
G |
A |
5: 5,315,985 (GRCm39) |
P13S |
possibly damaging |
Het |
| Cdr2 |
G |
A |
7: 120,559,345 (GRCm39) |
S158F |
possibly damaging |
Het |
| Cfap44 |
A |
T |
16: 44,252,326 (GRCm39) |
T812S |
probably benign |
Het |
| Cmklr1 |
G |
C |
5: 113,752,043 (GRCm39) |
H319Q |
probably benign |
Het |
| Cp |
A |
T |
3: 20,027,949 (GRCm39) |
I452F |
probably damaging |
Het |
| Dcdc2c |
T |
A |
12: 28,585,488 (GRCm39) |
I2F |
probably damaging |
Het |
| Dlat |
G |
A |
9: 50,570,906 (GRCm39) |
|
probably benign |
Het |
| Dock1 |
A |
G |
7: 134,601,017 (GRCm39) |
D984G |
possibly damaging |
Het |
| Dsc2 |
T |
C |
18: 20,167,764 (GRCm39) |
I710V |
probably benign |
Het |
| Eif4e |
A |
G |
3: 138,252,122 (GRCm39) |
E20G |
probably benign |
Het |
| Fbxw16 |
T |
C |
9: 109,265,679 (GRCm39) |
Y380C |
probably damaging |
Het |
| Fscn3 |
A |
G |
6: 28,430,310 (GRCm39) |
D160G |
probably damaging |
Het |
| Gm9195 |
G |
A |
14: 72,694,123 (GRCm39) |
Q1531* |
probably null |
Het |
| Hps3 |
T |
C |
3: 20,084,575 (GRCm39) |
|
probably null |
Het |
| Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
| Igsf1 |
C |
T |
X: 48,875,736 (GRCm39) |
E755K |
probably null |
Het |
| Kalrn |
A |
G |
16: 34,181,371 (GRCm39) |
V89A |
probably damaging |
Het |
| Kcng1 |
C |
A |
2: 168,104,535 (GRCm39) |
G437V |
probably damaging |
Het |
| Krt82 |
C |
T |
15: 101,451,786 (GRCm39) |
R343Q |
probably benign |
Het |
| Lbr |
T |
C |
1: 181,645,068 (GRCm39) |
D528G |
possibly damaging |
Het |
| Macf1 |
T |
C |
4: 123,406,819 (GRCm39) |
E256G |
probably damaging |
Het |
| Mmp9 |
T |
A |
2: 164,792,726 (GRCm39) |
|
probably null |
Het |
| Myrf |
A |
G |
19: 10,191,421 (GRCm39) |
|
probably null |
Het |
| Ncor1 |
T |
A |
11: 62,280,585 (GRCm39) |
T82S |
possibly damaging |
Het |
| Or4c107 |
G |
A |
2: 88,789,055 (GRCm39) |
V82I |
probably benign |
Het |
| P2rx6 |
G |
T |
16: 17,385,627 (GRCm39) |
W176L |
probably benign |
Het |
| Pde4b |
A |
G |
4: 102,454,657 (GRCm39) |
E108G |
probably damaging |
Het |
| Pik3c2a |
A |
G |
7: 115,993,531 (GRCm39) |
V412A |
probably damaging |
Het |
| Prkd2 |
A |
G |
7: 16,584,131 (GRCm39) |
E328G |
probably benign |
Het |
| Prmt1 |
A |
C |
7: 44,631,169 (GRCm39) |
V114G |
probably damaging |
Het |
| Rnf133 |
G |
A |
6: 23,648,928 (GRCm39) |
H334Y |
probably benign |
Het |
| Rps18-ps5 |
T |
A |
13: 28,441,626 (GRCm39) |
L3Q |
probably damaging |
Het |
| Secisbp2l |
A |
G |
2: 125,602,206 (GRCm39) |
S385P |
probably benign |
Het |
| Sel1l3 |
A |
T |
5: 53,279,213 (GRCm39) |
|
probably benign |
Het |
| Sf3a2 |
ACTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGT |
ACTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGT |
10: 80,640,271 (GRCm39) |
|
probably benign |
Het |
| Sfpq |
CCAGCAGCAGCAGCAGC |
CCAGCAGCAGCAGC |
4: 126,915,401 (GRCm39) |
|
probably benign |
Het |
| Slc35e1 |
G |
A |
8: 73,246,030 (GRCm39) |
P134L |
|
Het |
| Slc5a4b |
A |
T |
10: 75,925,827 (GRCm39) |
|
probably benign |
Het |
| Slc9a3 |
A |
G |
13: 74,298,920 (GRCm39) |
Y113C |
probably damaging |
Het |
| Ugt3a1 |
T |
C |
15: 9,306,333 (GRCm39) |
F161L |
possibly damaging |
Het |
| Zhx2 |
T |
C |
15: 57,685,984 (GRCm39) |
I451T |
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 |
|
|
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 |
|
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 |
|
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'- TAGCACCAACTCCGGACATTTG -3'
(R):5'- ACTTCAGTCTGTGTGTTCCG -3'
Sequencing Primer
(F):5'- GGACATTTGCATCACCCATGGATG -3'
(R):5'- AGTTCAGGCTGGCCTAGAACATTC -3'
|
| Posted On |
2022-08-15 |
Incidental Mutation