Incidental Mutation 'IGL02902:Mier2'
| ID |
363630 |
| 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 # |
IGL02902
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
79376079-79391033 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 79385456 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 124
(N124S)
|
| 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 damaging
Transcript: ENSMUST00000062855
AA Change: N53S
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000059864
Gene: ENSMUSG00000042570
AA Change: N53S
| 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 |
possibly damaging
Transcript: ENSMUST00000164895
AA Change: N17S
PolyPhen 2
Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000165028
AA Change: N53S
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000127387
Gene: ENSMUSG00000042570
AA Change: N53S
| 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 |
possibly damaging
Transcript: ENSMUST00000165778
AA Change: N17S
PolyPhen 2
Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000165866
AA Change: N124S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000127332
Gene: ENSMUSG00000042570
AA Change: N124S
| 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 |
possibly damaging
Transcript: ENSMUST00000170018
AA Change: N66S
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167760
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810459M11Rik |
G |
T |
1: 85,974,087 (GRCm39) |
V135F |
possibly damaging |
Het |
| Aatk |
T |
C |
11: 119,902,603 (GRCm39) |
T541A |
probably benign |
Het |
| Abcc1 |
T |
C |
16: 14,240,991 (GRCm39) |
L516P |
probably damaging |
Het |
| Actl6a |
T |
A |
3: 32,776,791 (GRCm39) |
V350E |
possibly damaging |
Het |
| Afm |
A |
G |
5: 90,674,222 (GRCm39) |
K245E |
possibly damaging |
Het |
| Agr3 |
T |
C |
12: 35,996,915 (GRCm39) |
V63A |
probably damaging |
Het |
| Arhgef28 |
A |
T |
13: 98,083,383 (GRCm39) |
M1162K |
probably damaging |
Het |
| Casq2 |
T |
A |
3: 101,994,113 (GRCm39) |
C53* |
probably null |
Het |
| Ccdc181 |
T |
C |
1: 164,107,470 (GRCm39) |
V51A |
probably benign |
Het |
| Cd101 |
A |
G |
3: 100,926,310 (GRCm39) |
|
probably benign |
Het |
| Csdc2 |
T |
C |
15: 81,832,801 (GRCm39) |
V69A |
probably benign |
Het |
| Cyp2c23 |
A |
T |
19: 44,009,997 (GRCm39) |
|
probably benign |
Het |
| Dnph1 |
A |
G |
17: 46,809,427 (GRCm39) |
|
probably benign |
Het |
| Egf |
T |
C |
3: 129,474,796 (GRCm39) |
T1124A |
probably benign |
Het |
| Gpr45 |
A |
G |
1: 43,072,371 (GRCm39) |
E338G |
possibly damaging |
Het |
| Grb14 |
A |
C |
2: 64,768,762 (GRCm39) |
L98R |
probably damaging |
Het |
| Gucy1a1 |
T |
C |
3: 82,026,224 (GRCm39) |
S77G |
possibly damaging |
Het |
| Helb |
A |
G |
10: 119,925,390 (GRCm39) |
S996P |
probably benign |
Het |
| Huwe1 |
A |
G |
X: 150,669,762 (GRCm39) |
E1405G |
probably damaging |
Het |
| Ifi47 |
T |
C |
11: 48,986,617 (GRCm39) |
I128T |
probably benign |
Het |
| Ift140 |
T |
A |
17: 25,309,736 (GRCm39) |
Y1089N |
probably damaging |
Het |
| Ift56 |
A |
C |
6: 38,402,097 (GRCm39) |
S530R |
probably benign |
Het |
| Il1r1 |
A |
T |
1: 40,341,569 (GRCm39) |
H324L |
probably benign |
Het |
| Irx1 |
C |
T |
13: 72,107,974 (GRCm39) |
R236H |
probably benign |
Het |
| Itpr3 |
T |
C |
17: 27,323,530 (GRCm39) |
V1185A |
probably benign |
Het |
| Kif19a |
T |
C |
11: 114,676,396 (GRCm39) |
V450A |
possibly damaging |
Het |
| Krtap21-1 |
G |
T |
16: 89,200,446 (GRCm39) |
Y65* |
probably null |
Het |
| Ltn1 |
A |
T |
16: 87,176,693 (GRCm39) |
N1704K |
possibly damaging |
Het |
| Med1 |
T |
C |
11: 98,047,335 (GRCm39) |
|
probably benign |
Het |
| Meis2 |
T |
A |
2: 115,893,804 (GRCm39) |
H36L |
probably damaging |
Het |
| Mmp20 |
A |
G |
9: 7,654,171 (GRCm39) |
|
probably null |
Het |
| Muc4 |
A |
G |
16: 32,569,212 (GRCm39) |
T91A |
possibly damaging |
Het |
| Myo3b |
T |
A |
2: 70,119,745 (GRCm39) |
V935E |
probably benign |
Het |
| Ndufa7 |
T |
C |
17: 34,048,632 (GRCm39) |
|
probably benign |
Het |
| Nipal1 |
A |
G |
5: 72,825,405 (GRCm39) |
E366G |
possibly damaging |
Het |
| Nobox |
A |
T |
6: 43,282,617 (GRCm39) |
N263K |
probably benign |
Het |
| Notch2 |
A |
G |
3: 98,018,890 (GRCm39) |
D684G |
probably damaging |
Het |
| Odr4 |
C |
A |
1: 150,260,179 (GRCm39) |
|
probably null |
Het |
| Or2t1 |
A |
G |
14: 14,328,789 (GRCm38) |
H226R |
probably benign |
Het |
| Or4c12b |
T |
A |
2: 89,647,508 (GRCm39) |
Y273* |
probably null |
Het |
| Or5p69 |
C |
A |
7: 107,967,336 (GRCm39) |
T213K |
probably damaging |
Het |
| Or5w13 |
T |
C |
2: 87,523,344 (GRCm39) |
N294S |
probably damaging |
Het |
| Or6aa1 |
T |
C |
7: 86,043,743 (GRCm39) |
|
probably benign |
Het |
| Plau |
A |
C |
14: 20,889,965 (GRCm39) |
D270A |
possibly damaging |
Het |
| Pof1b |
T |
C |
X: 111,558,809 (GRCm39) |
|
probably null |
Het |
| Pramel23 |
A |
G |
4: 143,424,913 (GRCm39) |
C177R |
probably damaging |
Het |
| Prtn3 |
A |
T |
10: 79,717,767 (GRCm39) |
|
probably null |
Het |
| Ptges3 |
T |
A |
10: 127,904,616 (GRCm39) |
D26E |
probably benign |
Het |
| Pxmp2 |
T |
C |
5: 110,429,160 (GRCm39) |
E99G |
probably benign |
Het |
| Rasgef1a |
A |
G |
6: 118,060,068 (GRCm39) |
R106G |
probably benign |
Het |
| Rnf208 |
T |
C |
2: 25,133,774 (GRCm39) |
V156A |
probably benign |
Het |
| Rps6ka1 |
A |
T |
4: 133,599,292 (GRCm39) |
I45N |
possibly damaging |
Het |
| Rps6ka4 |
C |
T |
19: 6,809,623 (GRCm39) |
|
probably null |
Het |
| Rsbn1 |
G |
T |
3: 103,860,972 (GRCm39) |
C466F |
possibly damaging |
Het |
| Shkbp1 |
A |
T |
7: 27,042,141 (GRCm39) |
C605S |
probably damaging |
Het |
| Slc2a10 |
G |
A |
2: 165,360,142 (GRCm39) |
D531N |
probably benign |
Het |
| Sox13 |
A |
G |
1: 133,317,204 (GRCm39) |
L143P |
probably damaging |
Het |
| Stx2 |
C |
T |
5: 129,069,285 (GRCm39) |
R142Q |
probably damaging |
Het |
| Tanc1 |
T |
A |
2: 59,623,431 (GRCm39) |
|
probably benign |
Het |
| Tubgcp5 |
C |
T |
7: 55,456,355 (GRCm39) |
Q316* |
probably null |
Het |
| Ubc |
A |
G |
5: 125,463,293 (GRCm39) |
V678A |
probably benign |
Het |
| Unc5d |
G |
A |
8: 29,365,634 (GRCm39) |
T117I |
probably damaging |
Het |
| Vmn2r4 |
T |
C |
3: 64,314,337 (GRCm39) |
I126V |
probably benign |
Het |
| Zfp410 |
T |
A |
12: 84,378,594 (GRCm39) |
|
probably null |
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 |
|
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 |
2015-12-18 |
Incidental Mutation