Incidental Mutation 'R2997:Mier1'
| ID |
257199 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mier1
|
| Ensembl Gene |
ENSMUSG00000028522 |
| Gene Name |
MEIR1 treanscription regulator |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2997 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
103114390-103165754 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 103131036 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 52
(D52E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102471
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030247]
[ENSMUST00000097945]
[ENSMUST00000106857]
[ENSMUST00000106858]
[ENSMUST00000134533]
|
| AlphaFold |
Q5UAK0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030247
AA Change: D52E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000030247
Gene: ENSMUSG00000028522
AA Change: D52E
| 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 damaging
Transcript: ENSMUST00000097945
AA Change: D80E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000095558
Gene: ENSMUSG00000028522
AA Change: D80E
| 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 damaging
Transcript: ENSMUST00000106857
AA Change: D35E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102470
Gene: ENSMUSG00000028522
AA Change: D35E
| 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 damaging
Transcript: ENSMUST00000106858
AA Change: D52E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102471
Gene: ENSMUSG00000028522
AA Change: D52E
| 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 |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| 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: 16 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl2 |
A |
T |
3: 148,817,649 |
V82E |
probably damaging |
Het |
| Arid5b |
C |
T |
10: 68,098,462 |
G294S |
probably benign |
Het |
| Arl6 |
A |
T |
16: 59,623,876 |
|
probably null |
Het |
| Arsi |
G |
A |
18: 60,916,651 |
G202E |
probably benign |
Het |
| BC027072 |
ACTGCTGCTGCTGCTGCTGCTGC |
ACTGCTGCTGCTGCTGCTGC |
17: 71,744,711 |
|
probably benign |
Het |
| Elp4 |
A |
G |
2: 105,814,316 |
F228L |
possibly damaging |
Het |
| Fndc3b |
A |
C |
3: 27,468,872 |
D519E |
probably benign |
Het |
| Gbp9 |
T |
A |
5: 105,082,769 |
I430F |
probably benign |
Het |
| Gm4737 |
G |
A |
16: 46,153,925 |
T363I |
possibly damaging |
Het |
| Lgr4 |
A |
T |
2: 110,003,517 |
E369D |
probably benign |
Het |
| Lrguk |
T |
A |
6: 34,073,762 |
V385D |
probably damaging |
Het |
| Mthfd1 |
G |
T |
12: 76,315,036 |
V139F |
probably benign |
Het |
| Myg1 |
G |
T |
15: 102,337,510 |
R315L |
probably null |
Het |
| Tchh |
CACGCGAGGAACGCGAGGAAC |
CACGCGAGGAAC |
3: 93,447,750 |
|
probably benign |
Het |
| Ttn |
A |
G |
2: 76,886,006 |
|
probably benign |
Het |
| Tyw5 |
T |
C |
1: 57,388,641 |
D268G |
probably damaging |
Het |
|
| Other mutations in Mier1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01586:Mier1
|
APN |
4 |
103155572 |
missense |
probably damaging |
0.99 |
|
IGL01599:Mier1
|
APN |
4 |
103155541 |
missense |
possibly damaging |
0.58 |
|
IGL01996:Mier1
|
APN |
4 |
103127276 |
missense |
possibly damaging |
0.93 |
|
IGL02228:Mier1
|
APN |
4 |
103131062 |
missense |
possibly damaging |
0.85 |
|
R0194:Mier1
|
UTSW |
4 |
103139519 |
splice site |
probably null |
|
|
R0505:Mier1
|
UTSW |
4 |
103155623 |
splice site |
probably benign |
|
|
R0684:Mier1
|
UTSW |
4 |
103139434 |
missense |
probably damaging |
0.99 |
|
R0691:Mier1
|
UTSW |
4 |
103139502 |
missense |
probably benign |
0.07 |
|
R4273:Mier1
|
UTSW |
4 |
103162431 |
missense |
possibly damaging |
0.93 |
|
R4728:Mier1
|
UTSW |
4 |
103140205 |
missense |
probably damaging |
1.00 |
|
R4769:Mier1
|
UTSW |
4 |
103140220 |
missense |
probably benign |
0.01 |
|
R4798:Mier1
|
UTSW |
4 |
103130998 |
missense |
probably damaging |
1.00 |
|
R5075:Mier1
|
UTSW |
4 |
103139473 |
missense |
probably benign |
0.02 |
|
R5260:Mier1
|
UTSW |
4 |
103162710 |
missense |
probably benign |
0.04 |
|
R5663:Mier1
|
UTSW |
4 |
103150542 |
missense |
probably damaging |
0.96 |
|
R5924:Mier1
|
UTSW |
4 |
103159702 |
nonsense |
probably null |
|
|
R7253:Mier1
|
UTSW |
4 |
103139347 |
splice site |
probably null |
|
|
R7304:Mier1
|
UTSW |
4 |
103139402 |
nonsense |
probably null |
|
|
R7641:Mier1
|
UTSW |
4 |
103139440 |
missense |
possibly damaging |
0.89 |
|
R7998:Mier1
|
UTSW |
4 |
103162615 |
missense |
probably benign |
0.09 |
|
R8000:Mier1
|
UTSW |
4 |
103131043 |
missense |
probably damaging |
1.00 |
|
R8557:Mier1
|
UTSW |
4 |
103139346 |
splice site |
probably null |
|
|
R9353:Mier1
|
UTSW |
4 |
103155603 |
missense |
probably damaging |
0.97 |
|
R9537:Mier1
|
UTSW |
4 |
103162561 |
missense |
probably benign |
0.00 |
|
R9759:Mier1
|
UTSW |
4 |
103162528 |
missense |
probably benign |
0.13 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCCCTCTGCACAAAAGACTATTC -3'
(R):5'- CTTCATGGTCCATTTCTGATACAG -3'
Sequencing Primer
(F):5'- GCACTGAATCTGGCTTAC -3'
(R):5'- ATAAACAGCACCGAGGTC -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation