Incidental Mutation 'R7625:Mier2'
| ID |
589402 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mier2
|
| Ensembl Gene |
ENSMUSG00000042570 |
| Gene Name |
MIER family member 2 |
| Synonyms |
2700087H15Rik |
| MMRRC Submission |
045719-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.432)
|
| Stock # |
R7625 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
79376079-79391033 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 79378543 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 332
(S332P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127387
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062855]
[ENSMUST00000165028]
[ENSMUST00000172158]
|
| AlphaFold |
Q3U3N0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000062855
AA Change: S330P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000059864
Gene: ENSMUSG00000042570
AA Change: S330P
| 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 damaging
Transcript: ENSMUST00000165028
AA Change: S332P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000127387
Gene: ENSMUSG00000042570
AA Change: S332P
| 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: 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 |
0.4054 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
98% (59/60) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars1 |
T |
A |
8: 111,773,587 (GRCm39) |
V506E |
probably damaging |
Het |
| Acaa2 |
G |
T |
18: 74,937,213 (GRCm39) |
V366F |
possibly damaging |
Het |
| Ago1 |
G |
A |
4: 126,337,022 (GRCm39) |
R532C |
probably benign |
Het |
| Ank2 |
T |
G |
3: 126,846,449 (GRCm39) |
D182A |
probably damaging |
Het |
| Anxa4 |
T |
C |
6: 86,714,801 (GRCm39) |
D302G |
probably damaging |
Het |
| Apoa4 |
A |
T |
9: 46,154,410 (GRCm39) |
E337V |
probably damaging |
Het |
| Atf1 |
A |
G |
15: 100,152,158 (GRCm39) |
|
probably null |
Het |
| Atp8b3 |
A |
C |
10: 80,355,980 (GRCm39) |
V1244G |
probably benign |
Het |
| Cactin |
CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG |
CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG |
10: 81,157,152 (GRCm39) |
|
probably benign |
Het |
| Camk2a |
G |
A |
18: 61,085,412 (GRCm39) |
V132M |
probably damaging |
Het |
| Cdc40 |
A |
T |
10: 40,724,048 (GRCm39) |
Y247N |
probably benign |
Het |
| Chd8 |
G |
A |
14: 52,474,534 (GRCm39) |
P166S |
probably benign |
Het |
| Chl1 |
T |
A |
6: 103,706,086 (GRCm39) |
S1140R |
probably damaging |
Het |
| Clstn3 |
G |
T |
6: 124,414,377 (GRCm39) |
S783* |
probably null |
Het |
| Col6a1 |
A |
G |
10: 76,549,760 (GRCm39) |
S562P |
unknown |
Het |
| Cpb2 |
G |
A |
14: 75,509,989 (GRCm39) |
V250M |
possibly damaging |
Het |
| Cyp2c38 |
T |
A |
19: 39,451,368 (GRCm39) |
Q44L |
possibly damaging |
Het |
| Dgat1 |
T |
C |
15: 76,387,395 (GRCm39) |
M325V |
possibly damaging |
Het |
| Dnah11 |
T |
A |
12: 118,160,377 (GRCm39) |
M118L |
probably benign |
Het |
| Dpy19l3 |
T |
A |
7: 35,452,106 (GRCm39) |
I13L |
probably benign |
Het |
| Enkd1 |
A |
G |
8: 106,431,265 (GRCm39) |
|
probably null |
Het |
| Fam241b |
A |
G |
10: 61,970,479 (GRCm39) |
|
probably benign |
Het |
| Fhit |
T |
A |
14: 9,870,177 (GRCm38) |
|
probably null |
Het |
| Gp6 |
T |
C |
7: 4,373,173 (GRCm39) |
E250G |
probably benign |
Het |
| Hmgb1 |
T |
C |
5: 148,987,150 (GRCm39) |
E84G |
probably benign |
Het |
| Hscb |
T |
A |
5: 110,977,012 (GRCm39) |
I227F |
probably damaging |
Het |
| Hspg2 |
T |
A |
4: 137,292,249 (GRCm39) |
L4047Q |
probably damaging |
Het |
| Hsph1 |
A |
G |
5: 149,541,901 (GRCm39) |
L775P |
probably benign |
Het |
| Hydin |
A |
T |
8: 111,268,476 (GRCm39) |
S2947C |
probably benign |
Het |
| Intu |
T |
C |
3: 40,652,029 (GRCm39) |
S829P |
probably benign |
Het |
| Kcnn3 |
C |
A |
3: 89,516,977 (GRCm39) |
T462K |
probably damaging |
Het |
| Kndc1 |
G |
A |
7: 139,517,930 (GRCm39) |
C1622Y |
possibly damaging |
Het |
| Lifr |
T |
C |
15: 7,198,723 (GRCm39) |
Y318H |
probably damaging |
Het |
| Mindy4 |
T |
C |
6: 55,253,598 (GRCm39) |
I489T |
possibly damaging |
Het |
| Mmp8 |
A |
T |
9: 7,566,218 (GRCm39) |
Q358L |
probably benign |
Het |
| Ms4a4a |
T |
A |
19: 11,367,728 (GRCm39) |
|
probably null |
Het |
| Nav1 |
G |
C |
1: 135,395,483 (GRCm39) |
S962C |
probably damaging |
Het |
| Nfe2l1 |
G |
A |
11: 96,710,271 (GRCm39) |
R653C |
probably damaging |
Het |
| Nherf4 |
A |
T |
9: 44,161,594 (GRCm39) |
I95N |
probably damaging |
Het |
| Nod2 |
A |
T |
8: 89,391,906 (GRCm39) |
I738F |
probably damaging |
Het |
| Nrf1 |
G |
A |
6: 30,116,230 (GRCm39) |
V301I |
probably benign |
Het |
| Oog1 |
T |
C |
12: 87,655,082 (GRCm39) |
F410S |
probably benign |
Het |
| Or52a33 |
A |
G |
7: 103,289,165 (GRCm39) |
Y61H |
probably damaging |
Het |
| Or6k4 |
G |
A |
1: 173,964,733 (GRCm39) |
C141Y |
probably benign |
Het |
| Pcdhga8 |
G |
A |
18: 37,859,954 (GRCm39) |
V337I |
probably benign |
Het |
| Pelp1 |
G |
T |
11: 70,286,260 (GRCm39) |
N572K |
probably benign |
Het |
| Pikfyve |
T |
C |
1: 65,307,036 (GRCm39) |
V1808A |
possibly damaging |
Het |
| Pirt |
A |
C |
11: 66,816,769 (GRCm39) |
S27R |
probably damaging |
Het |
| Pramel20 |
A |
T |
4: 143,298,821 (GRCm39) |
I255L |
probably benign |
Het |
| Rgs17 |
A |
T |
10: 5,791,488 (GRCm39) |
D96E |
probably benign |
Het |
| Senp1 |
A |
G |
15: 97,964,679 (GRCm39) |
F206L |
probably benign |
Het |
| Sh3rf1 |
T |
A |
8: 61,825,756 (GRCm39) |
S584T |
probably benign |
Het |
| Tex44 |
A |
T |
1: 86,354,459 (GRCm39) |
K123* |
probably null |
Het |
| Tpst2 |
C |
A |
5: 112,455,887 (GRCm39) |
T142K |
probably damaging |
Het |
| Ttc28 |
G |
A |
5: 111,433,085 (GRCm39) |
G2040R |
possibly damaging |
Het |
| Uggt2 |
T |
A |
14: 119,263,905 (GRCm39) |
I1042F |
probably damaging |
Het |
| Vmn2r91 |
T |
C |
17: 18,325,693 (GRCm39) |
S104P |
probably damaging |
Het |
| Wdfy3 |
T |
C |
5: 102,003,252 (GRCm39) |
|
probably null |
Het |
| Zeb2 |
G |
A |
2: 44,892,584 (GRCm39) |
A223V |
probably damaging |
Het |
| Zfp1002 |
T |
C |
2: 150,096,520 (GRCm39) |
D303G |
probably benign |
Het |
| Zfp566 |
A |
G |
7: 29,777,930 (GRCm39) |
S84P |
probably benign |
Het |
| Zfp994 |
T |
A |
17: 22,420,736 (GRCm39) |
H71L |
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 |
|
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 |
|
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'- GTATCCCTGTGGAAAGAGAGC -3'
(R):5'- CTCATGGTGTCCGGGAAAGAAG -3'
Sequencing Primer
(F):5'- TCCCTGTGGAAAGAGAGCTATGAAG -3'
(R):5'- AAGAAGGCCTGAGTGTTAGTTG -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation