Incidental Mutation 'R8494:Mier2'
ID |
658193 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mier2
|
Ensembl Gene |
ENSMUSG00000042570 |
Gene Name |
MIER family member 2 |
Synonyms |
2700087H15Rik |
MMRRC Submission |
067936-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.350)
|
Stock # |
R8494 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
79376079-79391033 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 79377546 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 469
(D469G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127387
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062855]
[ENSMUST00000165028]
[ENSMUST00000172158]
|
AlphaFold |
Q3U3N0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000062855
AA Change: D467G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000059864 Gene: ENSMUSG00000042570 AA Change: D467G
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 damaging
Transcript: ENSMUST00000165028
AA Change: D469G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000127387 Gene: ENSMUSG00000042570 AA Change: D469G
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: 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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
T |
A |
1: 71,327,821 (GRCm39) |
M1420L |
probably benign |
Het |
Adamts14 |
T |
A |
10: 61,038,708 (GRCm39) |
H934L |
probably benign |
Het |
Adamtsl1 |
T |
C |
4: 86,240,221 (GRCm39) |
C661R |
probably damaging |
Het |
Akap5 |
A |
G |
12: 76,376,455 (GRCm39) |
D629G |
probably benign |
Het |
Anapc16 |
A |
T |
10: 59,832,340 (GRCm39) |
|
probably benign |
Het |
Ankar |
T |
C |
1: 72,697,953 (GRCm39) |
I758V |
probably benign |
Het |
Apc2 |
G |
T |
10: 80,150,313 (GRCm39) |
R1760L |
probably damaging |
Het |
C1qb |
T |
C |
4: 136,608,115 (GRCm39) |
T83A |
probably benign |
Het |
Canx |
T |
A |
11: 50,202,609 (GRCm39) |
|
probably null |
Het |
Cblb |
T |
A |
16: 52,025,003 (GRCm39) |
I966K |
probably damaging |
Het |
Crocc2 |
A |
T |
1: 93,144,788 (GRCm39) |
Q1444L |
probably damaging |
Het |
Dennd4c |
C |
T |
4: 86,759,312 (GRCm39) |
P1781S |
probably damaging |
Het |
Diaph3 |
T |
C |
14: 87,274,958 (GRCm39) |
Y166C |
probably benign |
Het |
Dnah5 |
A |
C |
15: 28,345,977 (GRCm39) |
N2439T |
probably benign |
Het |
Dsg3 |
T |
A |
18: 20,673,271 (GRCm39) |
Y981N |
probably benign |
Het |
Esrp2 |
C |
T |
8: 106,861,350 (GRCm39) |
V150M |
probably damaging |
Het |
Fbxo15 |
T |
G |
18: 84,982,252 (GRCm39) |
F235V |
probably damaging |
Het |
Ffar2 |
A |
T |
7: 30,519,164 (GRCm39) |
Y125* |
probably null |
Het |
Gm1110 |
T |
A |
9: 26,792,154 (GRCm39) |
D622V |
probably benign |
Het |
Gpcpd1 |
A |
G |
2: 132,386,355 (GRCm39) |
V341A |
probably damaging |
Het |
Gpx3 |
G |
A |
11: 54,793,846 (GRCm39) |
V19I |
probably benign |
Het |
Hadha |
T |
C |
5: 30,347,810 (GRCm39) |
I160M |
probably damaging |
Het |
Igkv3-4 |
G |
T |
6: 70,649,147 (GRCm39) |
V49F |
probably damaging |
Het |
Kcng1 |
A |
G |
2: 168,105,018 (GRCm39) |
V276A |
probably damaging |
Het |
Kif7 |
A |
T |
7: 79,360,145 (GRCm39) |
V364D |
probably benign |
Het |
Kirrel3 |
A |
G |
9: 34,902,341 (GRCm39) |
I182V |
probably benign |
Het |
Lfng |
G |
A |
5: 140,598,981 (GRCm39) |
E297K |
probably damaging |
Het |
Mcm9 |
G |
A |
10: 53,501,856 (GRCm39) |
T243M |
possibly damaging |
Het |
Micall1 |
T |
C |
15: 79,005,080 (GRCm39) |
L184P |
probably damaging |
Het |
Mief1 |
T |
A |
15: 80,133,593 (GRCm39) |
C217S |
probably benign |
Het |
Mst1r |
T |
G |
9: 107,791,718 (GRCm39) |
W799G |
possibly damaging |
Het |
Mybpc1 |
C |
T |
10: 88,362,291 (GRCm39) |
V950I |
probably benign |
Het |
Neurl4 |
A |
G |
11: 69,801,871 (GRCm39) |
D1296G |
probably benign |
Het |
Or4b12 |
A |
T |
2: 90,095,880 (GRCm39) |
M298K |
probably null |
Het |
Parg |
T |
A |
14: 31,930,978 (GRCm39) |
H199Q |
probably benign |
Het |
Pcnx3 |
C |
A |
19: 5,725,404 (GRCm39) |
D1170Y |
probably damaging |
Het |
Phactr1 |
T |
A |
13: 43,250,144 (GRCm39) |
V487E |
probably damaging |
Het |
Selp |
T |
G |
1: 163,957,835 (GRCm39) |
|
probably null |
Het |
Smpd3 |
T |
C |
8: 106,981,982 (GRCm39) |
E626G |
probably damaging |
Het |
Syn3 |
A |
G |
10: 86,190,265 (GRCm39) |
L188P |
probably damaging |
Het |
Tle1 |
T |
C |
4: 72,043,241 (GRCm39) |
I543V |
possibly damaging |
Het |
Trp53rkb |
A |
G |
2: 166,637,779 (GRCm39) |
*245W |
probably null |
Het |
Ttc28 |
A |
G |
5: 111,383,506 (GRCm39) |
R1336G |
probably damaging |
Het |
Vps13b |
T |
A |
15: 35,422,594 (GRCm39) |
W185R |
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 |
|
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'- ACTCACTGTGACAAGGGCTC -3'
(R):5'- TTGAAGCTGGTGGACTTGACC -3'
Sequencing Primer
(F):5'- TGTGACAAGGGCTCCGAGTG -3'
(R):5'- TGGACTTGACCAGCCTGG -3'
|
Posted On |
2021-01-18 |