Incidental Mutation 'R0972:Mier2'
| ID |
82882 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mier2
|
| Ensembl Gene |
ENSMUSG00000042570 |
| Gene Name |
MIER family member 2 |
| Synonyms |
2700087H15Rik |
| MMRRC Submission |
039101-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.432)
|
| Stock # |
R0972 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
79376079-79391033 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to G
at 79380455 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129732
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062855]
[ENSMUST00000164895]
[ENSMUST00000165028]
[ENSMUST00000165778]
[ENSMUST00000165866]
[ENSMUST00000167183]
[ENSMUST00000172158]
[ENSMUST00000170018]
|
| 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: ENSMUST00000164895
|
| 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 |
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 |
noncoding transcript
Transcript: ENSMUST00000168601
|
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170018
|
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 99.0%
- 10x: 97.8%
- 20x: 96.3%
|
| Validation Efficiency |
97% (72/74) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam25 |
G |
A |
8: 41,208,168 (GRCm39) |
R478Q |
probably damaging |
Het |
| Adgrf5 |
A |
T |
17: 43,761,874 (GRCm39) |
S1190C |
probably damaging |
Het |
| Akr1a1 |
T |
C |
4: 116,497,204 (GRCm39) |
|
probably null |
Het |
| Bco2 |
A |
T |
9: 50,447,615 (GRCm39) |
D369E |
probably benign |
Het |
| Blm |
A |
T |
7: 80,163,118 (GRCm39) |
S78T |
probably benign |
Het |
| Brsk2 |
C |
G |
7: 141,547,441 (GRCm39) |
|
probably benign |
Het |
| Cct8 |
A |
G |
16: 87,283,508 (GRCm39) |
V269A |
possibly damaging |
Het |
| Cdh12 |
A |
T |
15: 21,237,850 (GRCm39) |
Q28H |
probably benign |
Het |
| Cep290 |
A |
G |
10: 100,354,624 (GRCm39) |
T896A |
probably benign |
Het |
| Chrm2 |
T |
A |
6: 36,501,401 (GRCm39) |
N419K |
possibly damaging |
Het |
| Clasp2 |
A |
T |
9: 113,676,773 (GRCm39) |
H168L |
possibly damaging |
Het |
| Cog3 |
A |
T |
14: 75,954,610 (GRCm39) |
M643K |
probably benign |
Het |
| Col6a5 |
A |
G |
9: 105,817,484 (GRCm39) |
S276P |
unknown |
Het |
| Colgalt2 |
T |
C |
1: 152,347,495 (GRCm39) |
V143A |
probably damaging |
Het |
| Cul9 |
C |
G |
17: 46,833,101 (GRCm39) |
A1326P |
probably damaging |
Het |
| Cwc27 |
C |
A |
13: 104,797,865 (GRCm39) |
E365* |
probably null |
Het |
| Ddx56 |
A |
T |
11: 6,217,718 (GRCm39) |
M1K |
probably null |
Het |
| Dnah3 |
C |
T |
7: 119,634,563 (GRCm39) |
|
probably null |
Het |
| Dnah6 |
T |
C |
6: 73,136,176 (GRCm39) |
T988A |
possibly damaging |
Het |
| Esp15 |
T |
A |
17: 39,953,557 (GRCm39) |
F15I |
possibly damaging |
Het |
| Fam237b |
T |
A |
5: 5,625,512 (GRCm39) |
D69E |
probably benign |
Het |
| Fbh1 |
C |
T |
2: 11,768,899 (GRCm39) |
|
probably benign |
Het |
| Gucy1b2 |
A |
T |
14: 62,646,127 (GRCm39) |
I572N |
possibly damaging |
Het |
| Gucy1b2 |
T |
C |
14: 62,651,818 (GRCm39) |
I393V |
possibly damaging |
Het |
| H1f6 |
G |
T |
13: 23,880,307 (GRCm39) |
K153N |
possibly damaging |
Het |
| Herc1 |
C |
A |
9: 66,279,427 (GRCm39) |
R112S |
probably damaging |
Het |
| Itga7 |
G |
A |
10: 128,778,746 (GRCm39) |
R291H |
probably damaging |
Het |
| Jag1 |
A |
G |
2: 136,925,371 (GRCm39) |
L1077S |
possibly damaging |
Het |
| Klb |
G |
C |
5: 65,506,089 (GRCm39) |
R112P |
possibly damaging |
Het |
| Klrc2 |
T |
C |
6: 129,635,726 (GRCm39) |
Y134C |
probably damaging |
Het |
| Map2k2 |
C |
A |
10: 80,955,482 (GRCm39) |
D67E |
probably benign |
Het |
| Mest |
G |
A |
6: 30,740,683 (GRCm39) |
W14* |
probably null |
Het |
| Mog |
A |
G |
17: 37,328,424 (GRCm39) |
V169A |
probably benign |
Het |
| Mov10l1 |
T |
C |
15: 88,905,482 (GRCm39) |
V879A |
probably damaging |
Het |
| Mrgpra9 |
A |
G |
7: 46,885,203 (GRCm39) |
S155P |
probably damaging |
Het |
| Mtmr10 |
A |
G |
7: 63,976,457 (GRCm39) |
D418G |
probably damaging |
Het |
| Mtpn |
T |
C |
6: 35,498,911 (GRCm39) |
D58G |
probably null |
Het |
| Myh8 |
A |
G |
11: 67,188,585 (GRCm39) |
R1056G |
probably damaging |
Het |
| Nek1 |
T |
A |
8: 61,542,465 (GRCm39) |
|
probably null |
Het |
| Or4k38 |
T |
C |
2: 111,165,763 (GRCm39) |
Y220C |
probably benign |
Het |
| Or5al7 |
A |
C |
2: 85,992,648 (GRCm39) |
L215R |
possibly damaging |
Het |
| Or8b36 |
T |
A |
9: 37,937,856 (GRCm39) |
F251L |
possibly damaging |
Het |
| Pcnx1 |
G |
A |
12: 81,960,186 (GRCm39) |
D181N |
probably damaging |
Het |
| Pdzrn4 |
A |
G |
15: 92,655,592 (GRCm39) |
D495G |
probably benign |
Het |
| Plppr3 |
A |
G |
10: 79,700,920 (GRCm39) |
S641P |
probably damaging |
Het |
| Pramel11 |
T |
A |
4: 143,623,533 (GRCm39) |
T214S |
probably benign |
Het |
| Prelp |
A |
T |
1: 133,842,414 (GRCm39) |
Y244N |
probably damaging |
Het |
| Prg2 |
C |
A |
2: 84,812,393 (GRCm39) |
N34K |
probably benign |
Het |
| Ptp4a1 |
A |
G |
1: 30,984,080 (GRCm39) |
V46A |
possibly damaging |
Het |
| Rpl6 |
A |
G |
5: 121,346,565 (GRCm39) |
D222G |
possibly damaging |
Het |
| Rtp1 |
A |
T |
16: 23,250,058 (GRCm39) |
D141V |
probably damaging |
Het |
| Sacs |
T |
A |
14: 61,449,412 (GRCm39) |
Y3819* |
probably null |
Het |
| Serinc5 |
A |
G |
13: 92,825,128 (GRCm39) |
T186A |
probably benign |
Het |
| Slc15a2 |
A |
G |
16: 36,577,501 (GRCm39) |
S422P |
probably benign |
Het |
| Slc2a8 |
A |
T |
2: 32,865,379 (GRCm39) |
V366D |
probably benign |
Het |
| Smarca1 |
T |
C |
X: 46,938,864 (GRCm39) |
R715G |
possibly damaging |
Het |
| Spdef |
C |
T |
17: 27,933,997 (GRCm39) |
A275T |
probably damaging |
Het |
| Tcf21 |
T |
C |
10: 22,695,621 (GRCm39) |
K61R |
probably benign |
Het |
| Tep1 |
A |
G |
14: 51,061,753 (GRCm39) |
|
probably benign |
Het |
| Thada |
G |
A |
17: 84,736,490 (GRCm39) |
|
probably benign |
Het |
| Thap11 |
T |
A |
8: 106,582,810 (GRCm39) |
I273N |
probably damaging |
Het |
| Tmem129 |
T |
A |
5: 33,812,112 (GRCm39) |
E262V |
possibly damaging |
Het |
| Tnxb |
A |
G |
17: 34,904,117 (GRCm39) |
Y1086C |
probably damaging |
Het |
| Togaram2 |
A |
G |
17: 72,014,309 (GRCm39) |
Y619C |
probably damaging |
Het |
| Top1 |
C |
T |
2: 160,562,945 (GRCm39) |
A717V |
probably damaging |
Het |
| Trpm7 |
G |
A |
2: 126,646,969 (GRCm39) |
P1507S |
probably benign |
Het |
| Ubr2 |
A |
T |
17: 47,245,187 (GRCm39) |
|
probably null |
Het |
| Usp30 |
T |
C |
5: 114,249,925 (GRCm39) |
|
probably benign |
Het |
| Vmn1r3 |
T |
A |
4: 3,185,125 (GRCm39) |
I61F |
probably damaging |
Het |
| Zbtb22 |
C |
T |
17: 34,136,326 (GRCm39) |
T157I |
possibly damaging |
Het |
| Zfp677 |
A |
T |
17: 21,618,572 (GRCm39) |
H543L |
probably damaging |
Het |
| Zranb3 |
G |
T |
1: 127,884,383 (GRCm39) |
P1001Q |
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CAGTCAATACCAGAGGAAGCCATGC -3'
(R):5'- GACAGTGCAGTTACTCCTGACAGC -3'
Sequencing Primer
(F):5'- TGCATGGGTAGGGCAGG -3'
(R):5'- CATGGTGTAAGCCCTGGTAGAC -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation