Incidental Mutation 'R0684:Mier1'
| ID |
218624 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mier1
|
| Ensembl Gene |
ENSMUSG00000028522 |
| Gene Name |
MEIR1 treanscription regulator |
| Synonyms |
4933425I22Rik, 5830411K19Rik |
| MMRRC Submission |
038869-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0684 (G1)
|
| Quality Score |
49 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
102971587-103022951 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 102996631 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 103
(E103G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102471
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030247]
[ENSMUST00000097945]
[ENSMUST00000106855]
[ENSMUST00000106857]
[ENSMUST00000106858]
|
| AlphaFold |
Q5UAK0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030247
AA Change: E103G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000030247
Gene: ENSMUSG00000028522
AA Change: E103G
| 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: E131G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000095558
Gene: ENSMUSG00000028522
AA Change: E131G
| 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
|
| SMART Domains |
Protein: ENSMUSP00000102468
Gene: ENSMUSG00000028522
| 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 |
possibly damaging
Transcript: ENSMUST00000106857
AA Change: E86G
PolyPhen 2
Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000102470
Gene: ENSMUSG00000028522
AA Change: E86G
| 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: E103G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000102471
Gene: ENSMUSG00000028522
AA Change: E103G
| 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 |
noncoding transcript
Transcript: ENSMUST00000149259
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151588
|
| Meta Mutation Damage Score |
0.2151 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.1%
- 20x: 88.8%
|
| Validation Efficiency |
100% (69/69) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam4 |
A |
T |
12: 81,466,428 (GRCm39) |
L731H |
probably damaging |
Het |
| Adora2b |
C |
T |
11: 62,139,995 (GRCm39) |
A23V |
probably benign |
Het |
| Ankrd17 |
T |
C |
5: 90,411,857 (GRCm39) |
I1336V |
probably damaging |
Het |
| Asxl1 |
G |
A |
2: 153,239,442 (GRCm39) |
R410H |
probably damaging |
Het |
| Atp8a2 |
T |
C |
14: 60,260,593 (GRCm39) |
E419G |
probably benign |
Het |
| Atxn1l |
A |
T |
8: 110,459,016 (GRCm39) |
N415K |
probably damaging |
Het |
| Bcl2l12 |
T |
A |
7: 44,646,025 (GRCm39) |
T65S |
probably benign |
Het |
| Bdh2 |
A |
G |
3: 134,996,774 (GRCm39) |
I90V |
probably benign |
Het |
| Bsph1 |
T |
A |
7: 13,206,988 (GRCm39) |
N121K |
probably damaging |
Het |
| Cd96 |
T |
C |
16: 45,938,153 (GRCm39) |
Y104C |
possibly damaging |
Het |
| Chdh |
T |
C |
14: 29,753,570 (GRCm39) |
W160R |
probably damaging |
Het |
| Clock |
A |
G |
5: 76,393,365 (GRCm39) |
F193L |
probably damaging |
Het |
| Copz1 |
A |
G |
15: 103,204,958 (GRCm39) |
|
probably null |
Het |
| Cyp2c38 |
T |
C |
19: 39,379,500 (GRCm39) |
T450A |
probably damaging |
Het |
| Cyp2d34 |
A |
T |
15: 82,501,751 (GRCm39) |
I253K |
probably benign |
Het |
| Dhrs13 |
G |
T |
11: 77,927,789 (GRCm39) |
A212S |
probably damaging |
Het |
| Ecsit |
T |
C |
9: 21,987,796 (GRCm39) |
N81S |
probably benign |
Het |
| Efl1 |
A |
G |
7: 82,301,094 (GRCm39) |
T33A |
probably damaging |
Het |
| Emid1 |
T |
C |
11: 5,093,866 (GRCm39) |
R92G |
probably damaging |
Het |
| Ermp1 |
A |
G |
19: 29,609,941 (GRCm39) |
|
probably benign |
Het |
| Fn1 |
A |
T |
1: 71,634,968 (GRCm39) |
|
probably null |
Het |
| Hps5 |
A |
G |
7: 46,432,893 (GRCm39) |
|
probably null |
Het |
| Hsd17b3 |
T |
C |
13: 64,236,882 (GRCm39) |
M21V |
probably benign |
Het |
| Kat6b |
T |
C |
14: 21,718,849 (GRCm39) |
V1176A |
probably benign |
Het |
| Midn |
A |
G |
10: 79,992,336 (GRCm39) |
K463E |
probably damaging |
Het |
| Muc15 |
A |
G |
2: 110,564,160 (GRCm39) |
N232S |
possibly damaging |
Het |
| Ncoa2 |
T |
A |
1: 13,294,875 (GRCm39) |
E15V |
probably damaging |
Het |
| Or10a5 |
A |
T |
7: 106,635,889 (GRCm39) |
N176Y |
probably damaging |
Het |
| Or2n1d |
A |
G |
17: 38,646,735 (GRCm39) |
K229R |
probably benign |
Het |
| Or52n2b |
T |
A |
7: 104,565,841 (GRCm39) |
T221S |
probably benign |
Het |
| Pate14 |
C |
T |
9: 36,549,176 (GRCm39) |
G28E |
probably benign |
Het |
| Pigf |
A |
T |
17: 87,327,923 (GRCm39) |
F115I |
probably benign |
Het |
| Prpsap1 |
A |
T |
11: 116,362,317 (GRCm39) |
V355E |
probably damaging |
Het |
| Ptprk |
G |
T |
10: 28,359,294 (GRCm39) |
|
probably benign |
Het |
| Rae1 |
G |
A |
2: 172,846,957 (GRCm39) |
R67H |
probably damaging |
Het |
| Sema3a |
G |
A |
5: 13,606,494 (GRCm39) |
|
probably null |
Het |
| Slc22a22 |
T |
C |
15: 57,126,758 (GRCm39) |
T104A |
probably benign |
Het |
| Slc38a2 |
A |
T |
15: 96,593,168 (GRCm39) |
L137* |
probably null |
Het |
| Smgc |
A |
G |
15: 91,725,670 (GRCm39) |
|
probably benign |
Het |
| Syce3 |
A |
G |
15: 89,274,648 (GRCm39) |
|
probably benign |
Het |
| Syt9 |
T |
A |
7: 107,024,343 (GRCm39) |
W79R |
probably damaging |
Het |
| Tgoln1 |
A |
C |
6: 72,592,974 (GRCm39) |
S169A |
probably benign |
Het |
| Thnsl1 |
A |
G |
2: 21,216,477 (GRCm39) |
D77G |
probably benign |
Het |
| Tsr1 |
T |
A |
11: 74,798,767 (GRCm39) |
V712E |
probably damaging |
Het |
| Wdr12 |
C |
T |
1: 60,128,525 (GRCm39) |
|
probably benign |
Het |
| Xdh |
T |
A |
17: 74,250,886 (GRCm39) |
N22I |
probably damaging |
Het |
| Zfp3 |
T |
A |
11: 70,662,395 (GRCm39) |
L118Q |
probably benign |
Het |
| Zfp592 |
A |
G |
7: 80,687,623 (GRCm39) |
N883D |
probably benign |
Het |
| Zfp609 |
T |
A |
9: 65,638,483 (GRCm39) |
M250L |
probably benign |
Het |
| Zfp94 |
A |
T |
7: 24,002,495 (GRCm39) |
S316T |
probably damaging |
Het |
| Zfp955b |
A |
G |
17: 33,521,947 (GRCm39) |
N472S |
probably benign |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTGCCCTAAAGAAAACAAGAAGAGTCC -3'
(R):5'- CTGAATACAGAACTGCCAGTCAGCC -3'
Sequencing Primer
(F):5'- ACTGATGTCAGAGCTTGACC -3'
(R):5'- TCTCATGGAAGTGAATCCTAAGG -3'
|
| Posted On |
2014-08-18 |
Incidental Mutation