Incidental Mutation 'IGL01761:Mier2'
ID |
153593 |
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 # |
IGL01761
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
79376079-79391033 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to G
at 79384186 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127387
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062855]
[ENSMUST00000164895]
[ENSMUST00000165028]
[ENSMUST00000165778]
[ENSMUST00000165866]
[ENSMUST00000167183]
[ENSMUST00000167689]
[ENSMUST00000170018]
|
AlphaFold |
Q3U3N0 |
Predicted Effect |
probably null
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: ENSMUST00000164895
|
Predicted Effect |
probably null
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 |
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: ENSMUST00000167760
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170950
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000167689
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000170018
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2410137M14Rik |
T |
C |
17: 37,289,699 (GRCm39) |
T44A |
probably damaging |
Het |
A2ml1 |
T |
A |
6: 128,523,300 (GRCm39) |
Q1212L |
possibly damaging |
Het |
A530064D06Rik |
T |
C |
17: 48,460,127 (GRCm39) |
S190G |
possibly damaging |
Het |
AA986860 |
A |
G |
1: 130,670,459 (GRCm39) |
H227R |
possibly damaging |
Het |
Ace |
C |
A |
11: 105,870,319 (GRCm39) |
A826E |
possibly damaging |
Het |
Amigo3 |
G |
A |
9: 107,930,601 (GRCm39) |
G8D |
possibly damaging |
Het |
Angpt1 |
A |
T |
15: 42,339,863 (GRCm39) |
F283I |
possibly damaging |
Het |
Arhgef5 |
T |
C |
6: 43,251,538 (GRCm39) |
L763P |
probably benign |
Het |
Atr |
T |
C |
9: 95,833,501 (GRCm39) |
|
probably benign |
Het |
C4b |
T |
A |
17: 34,958,912 (GRCm39) |
M506L |
possibly damaging |
Het |
Cdc25a |
T |
C |
9: 109,720,933 (GRCm39) |
|
probably benign |
Het |
Dcaf17 |
T |
C |
2: 70,886,881 (GRCm39) |
S57P |
probably damaging |
Het |
Dph5 |
T |
A |
3: 115,693,362 (GRCm39) |
D93E |
probably damaging |
Het |
Fam169a |
A |
G |
13: 97,228,426 (GRCm39) |
E33G |
possibly damaging |
Het |
Fam193b |
G |
A |
13: 55,697,070 (GRCm39) |
T340I |
probably benign |
Het |
Glod4 |
T |
C |
11: 76,134,428 (GRCm39) |
N15D |
probably benign |
Het |
Hrob |
T |
C |
11: 102,146,422 (GRCm39) |
C233R |
probably benign |
Het |
Inpp5k |
A |
G |
11: 75,538,503 (GRCm39) |
E102G |
possibly damaging |
Het |
Kif27 |
A |
T |
13: 58,485,459 (GRCm39) |
D500E |
probably benign |
Het |
Lmntd1 |
A |
G |
6: 145,379,448 (GRCm39) |
I15T |
possibly damaging |
Het |
Lrp2 |
C |
T |
2: 69,311,579 (GRCm39) |
R2633H |
possibly damaging |
Het |
Lrp4 |
G |
A |
2: 91,312,326 (GRCm39) |
|
probably null |
Het |
Lrrc3b |
A |
C |
14: 15,358,098 (GRCm38) |
N169K |
probably benign |
Het |
Marchf7 |
T |
C |
2: 60,064,539 (GRCm39) |
S272P |
probably benign |
Het |
Myo9b |
G |
A |
8: 71,801,796 (GRCm39) |
S1307N |
probably damaging |
Het |
Or4c115 |
G |
T |
2: 88,927,888 (GRCm39) |
P128T |
probably damaging |
Het |
Or5p69 |
T |
G |
7: 107,967,525 (GRCm39) |
V276G |
probably damaging |
Het |
Phkb |
A |
T |
8: 86,745,693 (GRCm39) |
M629L |
probably benign |
Het |
Rergl |
C |
A |
6: 139,478,863 (GRCm39) |
V4F |
probably damaging |
Het |
Rgs22 |
A |
T |
15: 36,103,897 (GRCm39) |
I188N |
probably damaging |
Het |
Rgs3 |
G |
T |
4: 62,570,946 (GRCm39) |
|
probably benign |
Het |
Rpl4 |
T |
A |
9: 64,082,221 (GRCm39) |
V40D |
probably damaging |
Het |
Sox4 |
A |
T |
13: 29,136,790 (GRCm39) |
I72N |
possibly damaging |
Het |
Syne1 |
A |
C |
10: 5,355,456 (GRCm39) |
V375G |
probably damaging |
Het |
Tfrc |
G |
T |
16: 32,447,369 (GRCm39) |
D662Y |
probably damaging |
Het |
Ubqln5 |
T |
C |
7: 103,777,634 (GRCm39) |
R397G |
possibly damaging |
Het |
Unc13d |
T |
C |
11: 115,964,695 (GRCm39) |
D257G |
probably damaging |
Het |
Vmn1r160 |
A |
T |
7: 22,570,868 (GRCm39) |
N74Y |
probably damaging |
Het |
Vmn1r168 |
T |
A |
7: 23,241,070 (GRCm39) |
I309N |
possibly damaging |
Het |
Vmn1r20 |
T |
C |
6: 57,408,725 (GRCm39) |
L17P |
probably damaging |
Het |
Wdr19 |
A |
G |
5: 65,373,163 (GRCm39) |
I142V |
possibly damaging |
Het |
Zan |
A |
T |
5: 137,423,859 (GRCm39) |
I2680N |
unknown |
Het |
Zbtb20 |
T |
C |
16: 43,431,024 (GRCm39) |
F512L |
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 |
|
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 |
|
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 |
2014-02-04 |