Incidental Mutation 'R1333:Mier2'
ID |
156784 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mier2
|
Ensembl Gene |
ENSMUSG00000042570 |
Gene Name |
MIER family member 2 |
Synonyms |
2700087H15Rik |
MMRRC Submission |
039398-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.350)
|
Stock # |
R1333 (G1)
|
Quality Score |
179 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
79376079-79391033 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 79380991 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 231
(V231A)
|
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 |
probably benign
Transcript: ENSMUST00000062855
AA Change: V229A
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000059864 Gene: ENSMUSG00000042570 AA Change: V229A
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
AA Change: V231A
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000127387 Gene: ENSMUSG00000042570 AA Change: V231A
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 |
noncoding transcript
Transcript: ENSMUST00000168601
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170950
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167760
|
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 |
0.0888 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.2%
- 20x: 90.3%
|
Validation Efficiency |
98% (41/42) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts18 |
A |
G |
8: 114,431,805 (GRCm39) |
|
probably benign |
Het |
Amph |
G |
A |
13: 19,326,198 (GRCm39) |
V643M |
probably damaging |
Het |
Amt |
A |
G |
9: 108,178,296 (GRCm39) |
D301G |
probably benign |
Het |
Arhgef26 |
T |
C |
3: 62,247,744 (GRCm39) |
V276A |
probably benign |
Het |
Bid |
C |
T |
6: 120,874,216 (GRCm39) |
A110T |
possibly damaging |
Het |
Ccdc63 |
T |
C |
5: 122,246,224 (GRCm39) |
T566A |
probably benign |
Het |
Cdk5rap1 |
A |
G |
2: 154,202,574 (GRCm39) |
S219P |
probably damaging |
Het |
Col1a2 |
T |
A |
6: 4,515,684 (GRCm39) |
|
probably null |
Het |
Ctns |
G |
A |
11: 73,075,823 (GRCm39) |
T342I |
probably benign |
Het |
Dst |
G |
A |
1: 34,267,428 (GRCm39) |
E4957K |
probably damaging |
Het |
Elp1 |
C |
T |
4: 56,770,969 (GRCm39) |
|
probably benign |
Het |
Fam163b |
A |
G |
2: 27,003,659 (GRCm39) |
|
probably benign |
Het |
Frem2 |
T |
C |
3: 53,457,152 (GRCm39) |
T2067A |
probably benign |
Het |
Gm7353 |
C |
T |
7: 3,159,066 (GRCm39) |
|
noncoding transcript |
Het |
Gm9791 |
T |
C |
3: 34,059,225 (GRCm39) |
|
noncoding transcript |
Het |
Grik2 |
G |
T |
10: 49,404,087 (GRCm39) |
T258N |
probably damaging |
Het |
Herc3 |
T |
C |
6: 58,864,478 (GRCm39) |
L704P |
probably damaging |
Het |
Hjurp |
A |
C |
1: 88,193,768 (GRCm39) |
V380G |
probably damaging |
Het |
Lrrc56 |
A |
G |
7: 140,778,177 (GRCm39) |
|
probably benign |
Het |
Mast3 |
G |
A |
8: 71,233,938 (GRCm39) |
P187S |
probably damaging |
Het |
Muc5b |
A |
G |
7: 141,422,144 (GRCm39) |
T4427A |
possibly damaging |
Het |
Nox4 |
A |
G |
7: 86,896,072 (GRCm39) |
S7G |
possibly damaging |
Het |
Obscn |
G |
C |
11: 58,971,143 (GRCm39) |
Q2457E |
probably damaging |
Het |
Sh3bgrl2 |
C |
T |
9: 83,459,684 (GRCm39) |
|
probably benign |
Het |
Slc1a1 |
A |
G |
19: 28,812,611 (GRCm39) |
|
probably benign |
Het |
Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
Stard9 |
C |
A |
2: 120,504,117 (GRCm39) |
S221R |
probably damaging |
Het |
Stat6 |
G |
C |
10: 127,487,094 (GRCm39) |
R200S |
possibly damaging |
Het |
Stxbp5l |
C |
A |
16: 37,068,231 (GRCm39) |
|
probably null |
Het |
Tanc1 |
A |
G |
2: 59,673,835 (GRCm39) |
S1647G |
probably benign |
Het |
Tmem132d |
T |
A |
5: 127,861,923 (GRCm39) |
M733L |
probably benign |
Het |
Unc13d |
A |
G |
11: 115,964,381 (GRCm39) |
|
probably benign |
Het |
Usp24 |
T |
C |
4: 106,199,550 (GRCm39) |
S165P |
possibly damaging |
Het |
Vmn1r9 |
T |
C |
6: 57,048,615 (GRCm39) |
I230T |
probably damaging |
Het |
Zscan20 |
T |
C |
4: 128,481,889 (GRCm39) |
D591G |
possibly 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 |
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'- TGACATGGAACACTGACACCACTG -3'
(R):5'- GACTTTTCCCTGAGTGCCCATAGC -3'
Sequencing Primer
(F):5'- CTCTCACAAGTGGGTTCAATG -3'
(R):5'- AGTGCCCATAGCCAGCTTG -3'
|
Posted On |
2014-02-11 |