Incidental Mutation 'IGL01845:Mier2'
| ID |
178179 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mier2
|
| Ensembl Gene |
ENSMUSG00000042570 |
| Gene Name |
MIER family member 2 |
| Synonyms |
2700087H15Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.350)
|
| Stock # |
IGL01845
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
79376079-79391033 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 79385418 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 137
(C137S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127332
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062855]
[ENSMUST00000164895]
[ENSMUST00000165028]
[ENSMUST00000165778]
[ENSMUST00000165866]
[ENSMUST00000167183]
[ENSMUST00000167689]
[ENSMUST00000170018]
|
| AlphaFold |
Q3U3N0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000062855
AA Change: C66S
PolyPhen 2
Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000059864
Gene: ENSMUSG00000042570
AA Change: C66S
| 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
AA Change: C30S
PolyPhen 2
Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165028
AA Change: C66S
PolyPhen 2
Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000127387
Gene: ENSMUSG00000042570
AA Change: C66S
| 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
AA Change: C30S
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000165866
AA Change: C137S
PolyPhen 2
Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000127332
Gene: ENSMUSG00000042570
AA Change: C137S
| 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
AA Change: C79S
PolyPhen 2
Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167760
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1600012H06Rik |
T |
C |
17: 15,164,380 (GRCm39) |
L169P |
probably damaging |
Het |
| 4933405L10Rik |
C |
A |
8: 106,435,567 (GRCm39) |
A75E |
probably benign |
Het |
| Abca1 |
A |
G |
4: 53,090,297 (GRCm39) |
L384P |
probably damaging |
Het |
| Acox2 |
C |
A |
14: 8,251,617 (GRCm38) |
M293I |
probably damaging |
Het |
| Acp6 |
A |
G |
3: 97,081,123 (GRCm39) |
S288G |
probably benign |
Het |
| Arhgef12 |
T |
A |
9: 42,934,137 (GRCm39) |
H127L |
possibly damaging |
Het |
| Arid2 |
T |
G |
15: 96,254,678 (GRCm39) |
F175V |
probably damaging |
Het |
| Ccdc15 |
G |
A |
9: 37,226,532 (GRCm39) |
Q468* |
probably null |
Het |
| Ccdc93 |
T |
C |
1: 121,390,859 (GRCm39) |
I277T |
probably damaging |
Het |
| Cdh8 |
T |
C |
8: 99,825,586 (GRCm39) |
|
probably benign |
Het |
| Cdipt |
T |
C |
7: 126,578,725 (GRCm39) |
S145P |
possibly damaging |
Het |
| Cfap206 |
T |
C |
4: 34,719,610 (GRCm39) |
N268S |
possibly damaging |
Het |
| Clcn3 |
A |
T |
8: 61,366,129 (GRCm39) |
N814K |
probably benign |
Het |
| Col6a3 |
T |
C |
1: 90,724,293 (GRCm39) |
D2019G |
probably damaging |
Het |
| Corin |
C |
A |
5: 72,511,282 (GRCm39) |
G432C |
probably damaging |
Het |
| Crppa |
A |
G |
12: 36,597,918 (GRCm39) |
R350G |
probably benign |
Het |
| Cyld |
C |
T |
8: 89,432,403 (GRCm39) |
Q134* |
probably null |
Het |
| Dhh |
C |
A |
15: 98,795,864 (GRCm39) |
R97L |
probably damaging |
Het |
| Dnah5 |
T |
C |
15: 28,449,315 (GRCm39) |
V4239A |
probably benign |
Het |
| Dock2 |
T |
C |
11: 34,599,692 (GRCm39) |
I296V |
probably benign |
Het |
| Gabbr1 |
T |
C |
17: 37,359,306 (GRCm39) |
|
probably benign |
Het |
| Gbp10 |
T |
C |
5: 105,367,815 (GRCm39) |
|
probably null |
Het |
| Itgam |
T |
A |
7: 127,711,644 (GRCm39) |
L753Q |
probably damaging |
Het |
| Kbtbd12 |
A |
G |
6: 88,590,922 (GRCm39) |
V430A |
probably benign |
Het |
| Kdm4a |
A |
G |
4: 118,017,656 (GRCm39) |
V470A |
possibly damaging |
Het |
| Larp1b |
A |
T |
3: 40,924,960 (GRCm39) |
T146S |
probably benign |
Het |
| Lrrfip2 |
T |
A |
9: 111,028,728 (GRCm39) |
|
probably benign |
Het |
| Morc3 |
A |
G |
16: 93,657,455 (GRCm39) |
Y393C |
probably damaging |
Het |
| Ms4a7 |
A |
T |
19: 11,299,751 (GRCm39) |
M217K |
possibly damaging |
Het |
| Msl1 |
A |
G |
11: 98,696,191 (GRCm39) |
|
probably null |
Het |
| Myh2 |
A |
G |
11: 67,083,860 (GRCm39) |
E1546G |
probably benign |
Het |
| Nlgn2 |
A |
G |
11: 69,716,675 (GRCm39) |
L622P |
possibly damaging |
Het |
| Oga |
T |
A |
19: 45,756,301 (GRCm39) |
E447D |
probably benign |
Het |
| Or10q3 |
A |
G |
19: 11,847,888 (GRCm39) |
S231P |
probably benign |
Het |
| Or1e33 |
A |
G |
11: 73,738,298 (GRCm39) |
Y218H |
probably damaging |
Het |
| Or1j11 |
A |
C |
2: 36,312,105 (GRCm39) |
K232Q |
probably benign |
Het |
| Or56b1b |
T |
A |
7: 108,164,343 (GRCm39) |
I220L |
possibly damaging |
Het |
| Or5k17 |
T |
C |
16: 58,746,929 (GRCm39) |
M2V |
probably benign |
Het |
| Phf20 |
C |
A |
2: 156,118,577 (GRCm39) |
S427* |
probably null |
Het |
| Pirt |
G |
A |
11: 66,816,794 (GRCm39) |
S35N |
probably damaging |
Het |
| Prss28 |
C |
A |
17: 25,529,011 (GRCm39) |
N117K |
possibly damaging |
Het |
| Rbbp8nl |
A |
G |
2: 179,925,104 (GRCm39) |
C34R |
probably damaging |
Het |
| Rtn3 |
A |
T |
19: 7,435,241 (GRCm39) |
D231E |
probably damaging |
Het |
| Sema5a |
T |
C |
15: 32,474,514 (GRCm39) |
|
probably benign |
Het |
| Sh3bp2 |
T |
A |
5: 34,713,347 (GRCm39) |
L196Q |
probably damaging |
Het |
| Slc26a9 |
G |
T |
1: 131,685,256 (GRCm39) |
D325Y |
probably damaging |
Het |
| Slc4a1 |
A |
G |
11: 102,244,729 (GRCm39) |
V622A |
probably benign |
Het |
| Thbd |
A |
G |
2: 148,249,016 (GRCm39) |
V284A |
probably benign |
Het |
| Tmc5 |
T |
C |
7: 118,251,733 (GRCm39) |
F609L |
possibly damaging |
Het |
| Tnr |
T |
C |
1: 159,695,576 (GRCm39) |
|
probably benign |
Het |
| Ttc17 |
A |
T |
2: 94,163,177 (GRCm39) |
Y881* |
probably null |
Het |
| Ttc41 |
A |
T |
10: 86,612,488 (GRCm39) |
T1254S |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,640,347 (GRCm39) |
D13754N |
probably damaging |
Het |
| Vmn2r16 |
T |
A |
5: 109,511,762 (GRCm39) |
F656L |
probably damaging |
Het |
| Wdr19 |
A |
G |
5: 65,382,709 (GRCm39) |
I478V |
probably damaging |
Het |
| Zan |
T |
C |
5: 137,379,116 (GRCm39) |
|
probably benign |
Het |
| Zp2 |
T |
A |
7: 119,737,414 (GRCm39) |
D258V |
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 |
|
|
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 |
|
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 |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation