Incidental Mutation 'R6902:Mier2'
| ID |
538605 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mier2
|
| Ensembl Gene |
ENSMUSG00000042570 |
| Gene Name |
MIER family member 2 |
| Synonyms |
2700087H15Rik |
| MMRRC Submission |
045032-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.432)
|
| Stock # |
R6902 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
79376079-79391033 bp(-) (GRCm39) |
| Type of Mutation |
utr 3 prime |
| DNA Base Change (assembly) |
C to A
at 79376673 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127387
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062855]
[ENSMUST00000165028]
[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: 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 |
unknown
Transcript: ENSMUST00000172158
AA Change: R84L
|
| SMART Domains |
Protein: ENSMUSP00000129732
Gene: ENSMUSG00000042570
AA Change: R84L
| 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: 99.9%
- 10x: 99.2%
- 20x: 97.6%
|
| Validation Efficiency |
98% (50/51) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110070M22Rik |
C |
G |
13: 119,624,680 (GRCm39) |
|
probably benign |
Het |
| Abcc9 |
T |
A |
6: 142,624,953 (GRCm39) |
S481C |
probably damaging |
Het |
| Adgrl3 |
C |
A |
5: 81,837,434 (GRCm39) |
S773R |
probably damaging |
Het |
| Alkbh5 |
G |
A |
11: 60,429,381 (GRCm39) |
A45T |
probably benign |
Het |
| Ankrd6 |
C |
A |
4: 32,806,419 (GRCm39) |
Q576H |
probably damaging |
Het |
| Ankrd6 |
T |
A |
4: 32,806,420 (GRCm39) |
Q576L |
probably damaging |
Het |
| Carmil1 |
T |
C |
13: 24,299,528 (GRCm39) |
N332S |
possibly damaging |
Het |
| Cc2d2b |
A |
G |
19: 40,804,733 (GRCm39) |
Q1250R |
possibly damaging |
Het |
| Chd9 |
A |
C |
8: 91,769,579 (GRCm39) |
N2539T |
probably damaging |
Het |
| Clec4b2 |
C |
T |
6: 123,177,987 (GRCm39) |
Q101* |
probably null |
Het |
| Clstn2 |
A |
T |
9: 97,351,875 (GRCm39) |
F517I |
probably damaging |
Het |
| Cog2 |
A |
G |
8: 125,273,430 (GRCm39) |
K590E |
probably damaging |
Het |
| Coq9 |
G |
A |
8: 95,577,180 (GRCm39) |
E182K |
probably benign |
Het |
| Fcgbpl1 |
C |
T |
7: 27,836,638 (GRCm39) |
R186C |
probably damaging |
Het |
| Focad |
C |
T |
4: 88,148,713 (GRCm39) |
R477C |
unknown |
Het |
| Gja10 |
G |
T |
4: 32,601,905 (GRCm39) |
H160N |
probably damaging |
Het |
| Gpr132 |
T |
A |
12: 112,815,830 (GRCm39) |
Y332F |
probably benign |
Het |
| Herc2 |
A |
G |
7: 55,785,234 (GRCm39) |
T1495A |
probably benign |
Het |
| Hivep3 |
T |
A |
4: 119,953,192 (GRCm39) |
S503T |
possibly damaging |
Het |
| Ifi44 |
A |
T |
3: 151,451,536 (GRCm39) |
I190N |
possibly damaging |
Het |
| Igf1r |
T |
A |
7: 67,653,911 (GRCm39) |
C150S |
probably damaging |
Het |
| Ighv1-42 |
T |
A |
12: 114,901,155 (GRCm39) |
N4Y |
possibly damaging |
Het |
| Klra9 |
T |
A |
6: 130,156,003 (GRCm39) |
I251F |
probably benign |
Het |
| Krt79 |
T |
C |
15: 101,840,314 (GRCm39) |
N294S |
probably benign |
Het |
| Lama2 |
T |
G |
10: 26,857,625 (GRCm39) |
T3075P |
probably damaging |
Het |
| Lrfn1 |
T |
G |
7: 28,159,238 (GRCm39) |
C386G |
probably benign |
Het |
| Lrp2 |
T |
C |
2: 69,289,847 (GRCm39) |
D3664G |
probably damaging |
Het |
| Mfsd3 |
T |
A |
15: 76,587,349 (GRCm39) |
M344K |
probably damaging |
Het |
| Mmp2 |
G |
A |
8: 93,563,545 (GRCm39) |
V340M |
probably damaging |
Het |
| Mrgprb3 |
T |
A |
7: 48,293,447 (GRCm39) |
I35F |
probably benign |
Het |
| Myo5b |
A |
T |
18: 74,809,756 (GRCm39) |
I613F |
possibly damaging |
Het |
| Nicol1 |
G |
A |
5: 34,140,923 (GRCm39) |
|
probably benign |
Het |
| Or14c43 |
T |
A |
7: 86,114,995 (GRCm39) |
C125* |
probably null |
Het |
| Or51f1e |
A |
T |
7: 102,747,562 (GRCm39) |
I205F |
probably benign |
Het |
| Or7d11 |
A |
T |
9: 19,966,670 (GRCm39) |
L30M |
possibly damaging |
Het |
| Or8g30 |
C |
A |
9: 39,230,315 (GRCm39) |
L198F |
probably damaging |
Het |
| Pan2 |
A |
G |
10: 128,151,506 (GRCm39) |
T867A |
probably benign |
Het |
| Papolb |
T |
A |
5: 142,513,906 (GRCm39) |
H579L |
probably benign |
Het |
| Pcf11 |
C |
A |
7: 92,307,507 (GRCm39) |
G887V |
probably damaging |
Het |
| Pdzd8 |
A |
G |
19: 59,289,829 (GRCm39) |
S524P |
possibly damaging |
Het |
| Pole3 |
T |
C |
4: 62,442,300 (GRCm39) |
|
probably benign |
Het |
| Prdm14 |
C |
T |
1: 13,192,645 (GRCm39) |
V365I |
probably benign |
Het |
| Shank1 |
T |
A |
7: 44,006,239 (GRCm39) |
F1985L |
probably benign |
Het |
| Slc13a1 |
T |
C |
6: 24,097,665 (GRCm39) |
I421V |
possibly damaging |
Het |
| Slc2a6 |
C |
T |
2: 26,913,172 (GRCm39) |
V374M |
probably benign |
Het |
| Spata1 |
A |
T |
3: 146,181,078 (GRCm39) |
N293K |
possibly damaging |
Het |
| Stk40 |
T |
A |
4: 126,031,605 (GRCm39) |
D366E |
probably benign |
Het |
| Tas2r117 |
T |
C |
6: 132,780,288 (GRCm39) |
L142S |
probably damaging |
Het |
| Tomm70a |
T |
C |
16: 56,958,444 (GRCm39) |
S266P |
probably damaging |
Het |
| Trgv1 |
T |
C |
13: 19,524,190 (GRCm39) |
L2P |
probably benign |
Het |
| Vipr2 |
A |
T |
12: 116,102,819 (GRCm39) |
T310S |
possibly damaging |
Het |
| Vti1a |
A |
T |
19: 55,487,673 (GRCm39) |
|
probably null |
Het |
| Zfp961 |
A |
G |
8: 72,722,522 (GRCm39) |
K345R |
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 |
|
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'- CGGCTTTTCCTGAAGTGAAG -3'
(R):5'- TCTGCTTCAGAACATGGTGGG -3'
Sequencing Primer
(F):5'- GCTTTTCCTGAAGTGAAGACAGCC -3'
(R):5'- CTTCAGAACATGGTGGGATTCAG -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation