Incidental Mutation 'R4769:Mier1'
ID |
366321 |
Institutional Source |
Beutler Lab
|
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 # |
R4769 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
102971587-103022951 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 102997417 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Histidine
at position 195
(R195H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000095558
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030247]
[ENSMUST00000097945]
[ENSMUST00000106855]
[ENSMUST00000106857]
[ENSMUST00000106858]
|
AlphaFold |
Q5UAK0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000030247
AA Change: R167H
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000030247 Gene: ENSMUSG00000028522 AA Change: R167H
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: R195H
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000095558 Gene: ENSMUSG00000028522 AA Change: R195H
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 |
probably benign
Transcript: ENSMUST00000106857
AA Change: R150H
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000102470 Gene: ENSMUSG00000028522 AA Change: R150H
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: R167H
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000102471 Gene: ENSMUSG00000028522 AA Change: R167H
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
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.8%
|
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3425401B19Rik |
A |
C |
14: 32,382,174 (GRCm39) |
S1264A |
probably benign |
Het |
Adamts13 |
T |
G |
2: 26,898,723 (GRCm39) |
Y1361* |
probably null |
Het |
Ahrr |
A |
T |
13: 74,362,331 (GRCm39) |
D389E |
probably damaging |
Het |
Alx3 |
T |
C |
3: 107,508,007 (GRCm39) |
F172S |
probably damaging |
Het |
Antxrl |
A |
G |
14: 33,795,027 (GRCm39) |
H485R |
possibly damaging |
Het |
Aox4 |
A |
G |
1: 58,298,307 (GRCm39) |
D1091G |
probably null |
Het |
Btbd1 |
T |
A |
7: 81,455,558 (GRCm39) |
Q271L |
probably benign |
Het |
Cd209c |
A |
T |
8: 3,994,953 (GRCm39) |
N70K |
probably benign |
Het |
Cdc14a |
C |
T |
3: 116,088,399 (GRCm39) |
|
probably null |
Het |
Cenpe |
A |
G |
3: 134,953,912 (GRCm39) |
M1641V |
probably benign |
Het |
Clec2e |
G |
A |
6: 129,077,790 (GRCm39) |
T16I |
probably benign |
Het |
Clp1 |
T |
C |
2: 84,556,219 (GRCm39) |
D87G |
possibly damaging |
Het |
Dpy19l1 |
A |
T |
9: 24,337,444 (GRCm39) |
F517I |
probably damaging |
Het |
Dzip3 |
T |
C |
16: 48,758,837 (GRCm39) |
N646S |
probably damaging |
Het |
Ephx1 |
T |
A |
1: 180,823,543 (GRCm39) |
Y188F |
possibly damaging |
Het |
Etfa |
A |
T |
9: 55,403,051 (GRCm39) |
H81Q |
possibly damaging |
Het |
Gigyf2 |
T |
A |
1: 87,368,571 (GRCm39) |
F1084I |
probably damaging |
Het |
Heatr3 |
T |
C |
8: 88,868,411 (GRCm39) |
|
probably null |
Het |
Ift81 |
G |
T |
5: 122,732,656 (GRCm39) |
H293N |
probably benign |
Het |
Igkv9-120 |
G |
T |
6: 68,027,351 (GRCm39) |
R88S |
possibly damaging |
Het |
Il6 |
T |
G |
5: 30,223,076 (GRCm39) |
L114* |
probably null |
Het |
Ism2 |
A |
T |
12: 87,346,355 (GRCm39) |
M42K |
probably benign |
Het |
Lhx5 |
A |
G |
5: 120,574,503 (GRCm39) |
E269G |
probably benign |
Het |
Marveld1 |
T |
G |
19: 42,136,434 (GRCm39) |
M116R |
possibly damaging |
Het |
Micall2 |
A |
G |
5: 139,692,641 (GRCm39) |
S911P |
probably damaging |
Het |
Muc2 |
T |
A |
7: 141,286,260 (GRCm39) |
|
probably null |
Het |
Mybbp1a |
A |
G |
11: 72,336,466 (GRCm39) |
K486R |
probably damaging |
Het |
Ncapd2 |
A |
C |
6: 125,162,708 (GRCm39) |
L179R |
probably damaging |
Het |
Nos1 |
C |
T |
5: 118,081,310 (GRCm39) |
Q1171* |
probably null |
Het |
Nrg1 |
T |
A |
8: 32,408,000 (GRCm39) |
I78F |
probably damaging |
Het |
Or5d36 |
T |
G |
2: 87,901,073 (GRCm39) |
T218P |
probably benign |
Het |
Or6y1 |
T |
G |
1: 174,276,524 (GRCm39) |
F112V |
possibly damaging |
Het |
Plek2 |
C |
T |
12: 78,953,664 (GRCm39) |
|
probably null |
Het |
Plod2 |
A |
G |
9: 92,477,325 (GRCm39) |
H339R |
probably damaging |
Het |
Pold1 |
C |
T |
7: 44,184,495 (GRCm39) |
C835Y |
probably damaging |
Het |
Polr1a |
A |
G |
6: 71,927,852 (GRCm39) |
I868V |
probably benign |
Het |
Prss54 |
C |
A |
8: 96,286,003 (GRCm39) |
V357L |
probably benign |
Het |
Rbbp8 |
T |
A |
18: 11,855,727 (GRCm39) |
S625T |
probably damaging |
Het |
Rgs1 |
A |
T |
1: 144,123,667 (GRCm39) |
L86Q |
probably damaging |
Het |
Ripk4 |
T |
A |
16: 97,545,262 (GRCm39) |
N462Y |
probably damaging |
Het |
Rsf1 |
C |
T |
7: 97,325,429 (GRCm39) |
L1011F |
probably damaging |
Het |
Slc19a3 |
G |
A |
1: 82,997,062 (GRCm39) |
T382I |
probably damaging |
Het |
Slc9a2 |
G |
A |
1: 40,765,534 (GRCm39) |
R308Q |
probably damaging |
Het |
Top2b |
T |
A |
14: 16,398,991 (GRCm38) |
L537Q |
probably damaging |
Het |
Trim45 |
C |
A |
3: 100,839,050 (GRCm39) |
|
probably benign |
Het |
Umodl1 |
G |
T |
17: 31,202,976 (GRCm39) |
R443M |
possibly damaging |
Het |
Vmn1r11 |
G |
A |
6: 57,114,597 (GRCm39) |
R87K |
probably damaging |
Het |
Vmn1r78 |
T |
A |
7: 11,886,725 (GRCm39) |
I112N |
probably damaging |
Het |
Zeb2 |
T |
G |
2: 44,886,447 (GRCm39) |
E825A |
probably damaging |
Het |
Zfp930 |
A |
T |
8: 69,679,344 (GRCm39) |
I50F |
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 |
|
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 |
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'- TTTGACCAGTGGCCCACAAC -3'
(R):5'- TTTATAAGGCTGGCTGACTGCTAC -3'
Sequencing Primer
(F):5'- AGTGGCCCACAACAGCATTTTTC -3'
(R):5'- CTGGCTGACTGCTACCATGAAATG -3'
|
Posted On |
2015-12-21 |