Incidental Mutation 'IGL01586:Mier1'
ID |
91811 |
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 # |
IGL01586
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
102971587-103022951 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 103012769 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 342
(T342I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102470
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030247]
[ENSMUST00000097945]
[ENSMUST00000106855]
[ENSMUST00000106857]
[ENSMUST00000106858]
|
AlphaFold |
Q5UAK0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000030247
AA Change: T359I
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000030247 Gene: ENSMUSG00000028522 AA Change: T359I
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 |
probably benign
Transcript: ENSMUST00000097945
AA Change: T387I
PolyPhen 2
Score 0.381 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000095558 Gene: ENSMUSG00000028522 AA Change: T387I
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 |
probably benign
Transcript: ENSMUST00000106855
AA Change: T161I
PolyPhen 2
Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000102468 Gene: ENSMUSG00000028522 AA Change: T161I
Domain | Start | End | E-Value | Type |
ELM2
|
1 |
53 |
2.51e-8 |
SMART |
SANT
|
102 |
151 |
7.01e-9 |
SMART |
low complexity region
|
184 |
211 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000106857
AA Change: T342I
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000102470 Gene: ENSMUSG00000028522 AA Change: T342I
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: T359I
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000102471 Gene: ENSMUSG00000028522 AA Change: T359I
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: ENSMUST00000128536
|
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9830107B12Rik |
A |
T |
17: 48,439,125 (GRCm39) |
Y144N |
unknown |
Het |
Abca9 |
A |
C |
11: 110,045,243 (GRCm39) |
C363W |
probably damaging |
Het |
Acmsd |
G |
A |
1: 127,687,447 (GRCm39) |
R243H |
probably damaging |
Het |
Adam33 |
T |
C |
2: 130,895,970 (GRCm39) |
T490A |
probably damaging |
Het |
Ank1 |
A |
G |
8: 23,610,928 (GRCm39) |
D1411G |
probably benign |
Het |
Arhgap39 |
T |
C |
15: 76,614,638 (GRCm39) |
E842G |
probably benign |
Het |
Asgr2 |
T |
C |
11: 69,996,193 (GRCm39) |
|
probably benign |
Het |
Bbs9 |
T |
C |
9: 22,557,293 (GRCm39) |
V14A |
possibly damaging |
Het |
Cer1 |
A |
G |
4: 82,803,080 (GRCm39) |
S81P |
probably damaging |
Het |
Cln6 |
T |
A |
9: 62,751,900 (GRCm39) |
H41Q |
probably damaging |
Het |
Dock1 |
A |
G |
7: 134,355,106 (GRCm39) |
D334G |
probably damaging |
Het |
Dpy19l2 |
A |
G |
9: 24,578,271 (GRCm39) |
I261T |
probably benign |
Het |
Fhod3 |
T |
G |
18: 25,223,804 (GRCm39) |
I1050S |
probably damaging |
Het |
Gbgt1 |
T |
C |
2: 28,387,842 (GRCm39) |
V22A |
probably benign |
Het |
Izumo3 |
A |
G |
4: 92,034,532 (GRCm39) |
|
probably null |
Het |
Kif11 |
T |
C |
19: 37,372,681 (GRCm39) |
|
probably benign |
Het |
Krt1c |
C |
A |
15: 101,719,825 (GRCm39) |
G615V |
unknown |
Het |
Midn |
A |
G |
10: 79,992,477 (GRCm39) |
|
probably benign |
Het |
Mycbp2 |
A |
T |
14: 103,378,305 (GRCm39) |
|
probably null |
Het |
Nrp1 |
A |
T |
8: 129,158,513 (GRCm39) |
S267C |
possibly damaging |
Het |
Or8b8 |
A |
G |
9: 37,809,272 (GRCm39) |
T191A |
possibly damaging |
Het |
Pcdh20 |
A |
T |
14: 88,708,344 (GRCm39) |
M28K |
probably benign |
Het |
Prmt5 |
G |
A |
14: 54,747,408 (GRCm39) |
|
probably benign |
Het |
Psmg2 |
G |
A |
18: 67,786,293 (GRCm39) |
V218I |
probably benign |
Het |
Rps6ka5 |
T |
C |
12: 100,537,173 (GRCm39) |
E519G |
probably damaging |
Het |
Samm50 |
T |
A |
15: 84,080,039 (GRCm39) |
I39N |
probably benign |
Het |
Shc2 |
A |
T |
10: 79,458,138 (GRCm39) |
M515K |
probably damaging |
Het |
Sorbs2 |
T |
A |
8: 46,248,631 (GRCm39) |
F608L |
probably damaging |
Het |
Sos2 |
T |
C |
12: 69,654,172 (GRCm39) |
K727E |
probably damaging |
Het |
Sox13 |
A |
T |
1: 133,317,182 (GRCm39) |
H150Q |
possibly damaging |
Het |
Tmem132e |
T |
C |
11: 82,325,495 (GRCm39) |
V165A |
probably damaging |
Het |
Trmt11 |
T |
C |
10: 30,473,747 (GRCm39) |
T43A |
probably benign |
Het |
Tyrp1 |
G |
T |
4: 80,763,135 (GRCm39) |
V341L |
probably benign |
Het |
Ugt2b35 |
C |
A |
5: 87,159,250 (GRCm39) |
H481Q |
probably benign |
Het |
Zzz3 |
T |
A |
3: 152,161,476 (GRCm39) |
I290N |
possibly damaging |
Het |
|
Other mutations in Mier1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
IGL02228:Mier1
|
APN |
4 |
102,988,259 (GRCm39) |
missense |
possibly damaging |
0.85 |
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 |
2013-12-09 |