Incidental Mutation 'IGL02228:Mier1'
| ID |
285389 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mier1
|
| Ensembl Gene |
ENSMUSG00000028522 |
| Gene Name |
MEIR1 treanscription regulator |
| Synonyms |
4933425I22Rik, 5830411K19Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02228
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
102971587-103022951 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 102988259 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 44
(M44K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102470
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030247]
[ENSMUST00000097945]
[ENSMUST00000106857]
[ENSMUST00000106858]
[ENSMUST00000134533]
|
| AlphaFold |
Q5UAK0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030247
AA Change: M61K
PolyPhen 2
Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000030247
Gene: ENSMUSG00000028522
AA Change: M61K
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
low complexity region
|
57 |
65 |
N/A |
INTRINSIC |
|
low complexity region
|
100 |
121 |
N/A |
INTRINSIC |
|
low complexity region
|
176 |
193 |
N/A |
INTRINSIC |
|
ELM2
|
198 |
251 |
1.14e-11 |
SMART |
|
SANT
|
300 |
349 |
7.01e-9 |
SMART |
|
low complexity region
|
382 |
409 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000097945
AA Change: M89K
PolyPhen 2
Score 0.606 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000095558
Gene: ENSMUSG00000028522
AA Change: M89K
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
low complexity region
|
85 |
93 |
N/A |
INTRINSIC |
|
low complexity region
|
128 |
149 |
N/A |
INTRINSIC |
|
low complexity region
|
204 |
221 |
N/A |
INTRINSIC |
|
ELM2
|
226 |
279 |
1.14e-11 |
SMART |
|
SANT
|
328 |
377 |
7.01e-9 |
SMART |
|
low complexity region
|
410 |
437 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106857
AA Change: M44K
PolyPhen 2
Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000102470
Gene: ENSMUSG00000028522
AA Change: M44K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
17 |
N/A |
INTRINSIC |
|
low complexity region
|
40 |
48 |
N/A |
INTRINSIC |
|
low complexity region
|
83 |
104 |
N/A |
INTRINSIC |
|
low complexity region
|
159 |
176 |
N/A |
INTRINSIC |
|
ELM2
|
181 |
234 |
1.14e-11 |
SMART |
|
SANT
|
283 |
332 |
7.01e-9 |
SMART |
|
low complexity region
|
365 |
392 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106858
AA Change: M61K
PolyPhen 2
Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000102471
Gene: ENSMUSG00000028522
AA Change: M61K
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
low complexity region
|
57 |
65 |
N/A |
INTRINSIC |
|
low complexity region
|
100 |
121 |
N/A |
INTRINSIC |
|
low complexity region
|
176 |
193 |
N/A |
INTRINSIC |
|
ELM2
|
198 |
251 |
1.14e-11 |
SMART |
|
SANT
|
300 |
349 |
7.01e-9 |
SMART |
|
low complexity region
|
382 |
409 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124348
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134533
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137348
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149259
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151588
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that was first identified in Xenopus laevis by its role in a mesoderm induction early response (MIER). The encoded protein functions as a transcriptional regulator. Alternatively spliced transcript variants encode multiple isoforms, some of which lack a C-terminal nuclear localization signal. [provided by RefSeq, May 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot1 |
T |
C |
12: 84,063,738 (GRCm39) |
V282A |
probably benign |
Het |
| Acsm5 |
A |
G |
7: 119,131,089 (GRCm39) |
D169G |
probably damaging |
Het |
| Adam8 |
C |
T |
7: 139,568,719 (GRCm39) |
|
probably null |
Het |
| Agpat1 |
T |
C |
17: 34,829,536 (GRCm39) |
F37L |
possibly damaging |
Het |
| Asah2 |
A |
T |
19: 31,994,114 (GRCm39) |
D410E |
probably benign |
Het |
| Atg2a |
T |
A |
19: 6,296,830 (GRCm39) |
V378D |
probably benign |
Het |
| Atp1a4 |
T |
C |
1: 172,082,452 (GRCm39) |
Y130C |
possibly damaging |
Het |
| Bnc2 |
T |
C |
4: 84,211,313 (GRCm39) |
H419R |
possibly damaging |
Het |
| Capza3 |
A |
G |
6: 139,987,641 (GRCm39) |
D80G |
probably benign |
Het |
| Col6a4 |
C |
T |
9: 105,945,277 (GRCm39) |
D946N |
probably benign |
Het |
| Crat |
T |
C |
2: 30,303,194 (GRCm39) |
H31R |
probably damaging |
Het |
| Dsc2 |
A |
G |
18: 20,176,790 (GRCm39) |
V419A |
probably damaging |
Het |
| Ebf1 |
T |
C |
11: 44,863,739 (GRCm39) |
V363A |
probably damaging |
Het |
| Lcp2 |
T |
C |
11: 33,997,424 (GRCm39) |
F24S |
probably damaging |
Het |
| Lgmn |
G |
A |
12: 102,361,973 (GRCm39) |
T376I |
probably benign |
Het |
| Lrrc8d |
C |
T |
5: 105,959,730 (GRCm39) |
L47F |
probably benign |
Het |
| Ogfod1 |
C |
A |
8: 94,789,615 (GRCm39) |
Q439K |
probably benign |
Het |
| Or6aa1 |
A |
C |
7: 86,044,286 (GRCm39) |
I140S |
possibly damaging |
Het |
| Pcgf6 |
A |
C |
19: 47,036,421 (GRCm39) |
F216C |
probably damaging |
Het |
| Pcnt |
C |
T |
10: 76,225,308 (GRCm39) |
R1732K |
probably benign |
Het |
| Pramel17 |
T |
C |
4: 101,694,055 (GRCm39) |
Y276C |
probably benign |
Het |
| Pramel31 |
A |
G |
4: 144,089,231 (GRCm39) |
K183R |
probably damaging |
Het |
| Rbbp4 |
A |
T |
4: 129,211,543 (GRCm39) |
H370Q |
probably damaging |
Het |
| Reln |
A |
G |
5: 22,109,729 (GRCm39) |
V3127A |
probably damaging |
Het |
| Rttn |
T |
A |
18: 89,060,355 (GRCm39) |
V1019E |
probably damaging |
Het |
| Serpina9 |
C |
T |
12: 103,974,859 (GRCm39) |
R98Q |
probably benign |
Het |
| Slc16a7 |
C |
A |
10: 125,066,667 (GRCm39) |
G324V |
probably damaging |
Het |
| Slc22a3 |
A |
G |
17: 12,678,697 (GRCm39) |
L209P |
probably damaging |
Het |
| Tet1 |
T |
A |
10: 62,649,513 (GRCm39) |
T1695S |
probably damaging |
Het |
| Tulp3 |
G |
A |
6: 128,311,448 (GRCm39) |
T74M |
probably damaging |
Het |
| Ube3a |
A |
G |
7: 58,938,144 (GRCm39) |
|
probably benign |
Het |
| Ufl1 |
A |
T |
4: 25,281,686 (GRCm39) |
S23T |
probably benign |
Het |
| Unc80 |
A |
G |
1: 66,647,587 (GRCm39) |
E1509G |
possibly damaging |
Het |
| Wnk2 |
A |
T |
13: 49,210,416 (GRCm39) |
I1801N |
probably damaging |
Het |
|
| Other mutations in Mier1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01586:Mier1
|
APN |
4 |
103,012,769 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01599:Mier1
|
APN |
4 |
103,012,738 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
IGL01996:Mier1
|
APN |
4 |
102,984,473 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0194:Mier1
|
UTSW |
4 |
102,996,716 (GRCm39) |
splice site |
probably null |
|
|
R0505:Mier1
|
UTSW |
4 |
103,012,820 (GRCm39) |
splice site |
probably benign |
|
|
R0684:Mier1
|
UTSW |
4 |
102,996,631 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0691:Mier1
|
UTSW |
4 |
102,996,699 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2997:Mier1
|
UTSW |
4 |
102,988,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4273:Mier1
|
UTSW |
4 |
103,019,628 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4728:Mier1
|
UTSW |
4 |
102,997,402 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4769:Mier1
|
UTSW |
4 |
102,997,417 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4798:Mier1
|
UTSW |
4 |
102,988,195 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5075:Mier1
|
UTSW |
4 |
102,996,670 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5260:Mier1
|
UTSW |
4 |
103,019,907 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5663:Mier1
|
UTSW |
4 |
103,007,739 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5924:Mier1
|
UTSW |
4 |
103,016,899 (GRCm39) |
nonsense |
probably null |
|
|
R7253:Mier1
|
UTSW |
4 |
102,996,544 (GRCm39) |
splice site |
probably null |
|
|
R7304:Mier1
|
UTSW |
4 |
102,996,599 (GRCm39) |
nonsense |
probably null |
|
|
R7641:Mier1
|
UTSW |
4 |
102,996,637 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7998:Mier1
|
UTSW |
4 |
103,019,812 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8000:Mier1
|
UTSW |
4 |
102,988,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8557:Mier1
|
UTSW |
4 |
102,996,543 (GRCm39) |
splice site |
probably null |
|
|
R9353:Mier1
|
UTSW |
4 |
103,012,800 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9537:Mier1
|
UTSW |
4 |
103,019,758 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9759:Mier1
|
UTSW |
4 |
103,019,725 (GRCm39) |
missense |
probably benign |
0.13 |
|
| Posted On |
2015-04-16 |
Incidental Mutation