Incidental Mutation 'R9353:Mier1'
| ID |
708209 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mier1
|
| Ensembl Gene |
ENSMUSG00000028522 |
| Gene Name |
MEIR1 treanscription regulator |
| Synonyms |
4933425I22Rik, 5830411K19Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9353 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
102971587-103022951 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 103012800 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 397
(H397Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095558
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030247]
[ENSMUST00000097945]
[ENSMUST00000106855]
[ENSMUST00000106857]
[ENSMUST00000106858]
|
| AlphaFold |
Q5UAK0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030247
AA Change: H369Q
PolyPhen 2
Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000030247
Gene: ENSMUSG00000028522
AA Change: H369Q
| 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: H397Q
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000095558
Gene: ENSMUSG00000028522
AA Change: H397Q
| 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: ENSMUST00000106855
AA Change: H171Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102468
Gene: ENSMUSG00000028522
AA Change: H171Q
| 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: H352Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102470
Gene: ENSMUSG00000028522
AA Change: H352Q
| 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 |
possibly damaging
Transcript: ENSMUST00000106858
AA Change: H369Q
PolyPhen 2
Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000102471
Gene: ENSMUSG00000028522
AA Change: H369Q
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
98% (44/45) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp7b |
A |
T |
8: 22,517,890 (GRCm39) |
V316D |
possibly damaging |
Het |
| Bhmt1b |
A |
G |
18: 87,774,954 (GRCm39) |
E159G |
probably damaging |
Het |
| Cc2d2a |
T |
C |
5: 43,860,691 (GRCm39) |
|
probably null |
Het |
| Ccdc88a |
A |
G |
11: 29,427,433 (GRCm39) |
D1046G |
probably damaging |
Het |
| Ccl12 |
A |
T |
11: 81,993,437 (GRCm39) |
D25V |
possibly damaging |
Het |
| Cdh23 |
G |
A |
10: 60,143,306 (GRCm39) |
A3005V |
possibly damaging |
Het |
| Ces3a |
G |
T |
8: 105,776,547 (GRCm39) |
R45L |
probably benign |
Het |
| Cntln |
G |
T |
4: 84,802,597 (GRCm39) |
|
probably benign |
Het |
| Crybg3 |
C |
A |
16: 59,421,107 (GRCm39) |
|
probably null |
Het |
| Cxxc4 |
G |
T |
3: 133,945,913 (GRCm39) |
G165C |
unknown |
Het |
| Dab2ip |
G |
A |
2: 35,598,851 (GRCm39) |
C181Y |
probably damaging |
Het |
| Dnah11 |
A |
G |
12: 118,143,434 (GRCm39) |
V403A |
probably benign |
Het |
| Dnah12 |
T |
C |
14: 26,578,507 (GRCm39) |
S3089P |
probably damaging |
Het |
| Dnajc13 |
A |
T |
9: 104,067,571 (GRCm39) |
I1196N |
probably benign |
Het |
| Faiml |
T |
C |
9: 99,116,462 (GRCm39) |
Y76C |
probably damaging |
Het |
| Fam171b |
T |
A |
2: 83,707,028 (GRCm39) |
H299Q |
probably benign |
Het |
| Fbxo36 |
A |
G |
1: 84,874,259 (GRCm39) |
N85S |
probably benign |
Het |
| Filip1 |
A |
G |
9: 79,725,623 (GRCm39) |
F999L |
possibly damaging |
Het |
| Gtf3c3 |
A |
T |
1: 54,445,211 (GRCm39) |
S614R |
possibly damaging |
Het |
| Il18rap |
A |
G |
1: 40,587,088 (GRCm39) |
T457A |
probably benign |
Het |
| Inmt |
C |
T |
6: 55,151,984 (GRCm39) |
|
probably benign |
Het |
| Kcnb1 |
C |
T |
2: 166,947,007 (GRCm39) |
G614S |
probably benign |
Het |
| Kdm2a |
C |
T |
19: 4,393,141 (GRCm39) |
D405N |
|
Het |
| Kdm5a |
T |
A |
6: 120,404,730 (GRCm39) |
V1324E |
probably benign |
Het |
| Lyn |
A |
T |
4: 3,746,804 (GRCm39) |
Y194F |
possibly damaging |
Het |
| Mdn1 |
A |
G |
4: 32,693,504 (GRCm39) |
D1043G |
probably damaging |
Het |
| Mov10l1 |
T |
A |
15: 88,872,622 (GRCm39) |
D105E |
possibly damaging |
Het |
| Muc21 |
T |
C |
17: 35,930,545 (GRCm39) |
T1214A |
unknown |
Het |
| Nav3 |
A |
G |
10: 109,554,065 (GRCm39) |
S1766P |
probably damaging |
Het |
| Ncdn |
T |
A |
4: 126,644,464 (GRCm39) |
E119D |
probably benign |
Het |
| Nckipsd |
C |
A |
9: 108,691,471 (GRCm39) |
A416E |
probably damaging |
Het |
| Nek5 |
A |
G |
8: 22,563,961 (GRCm39) |
V623A |
probably benign |
Het |
| Oas1g |
A |
G |
5: 121,023,986 (GRCm39) |
Y108H |
possibly damaging |
Het |
| Or13n4 |
T |
C |
7: 106,423,062 (GRCm39) |
T224A |
probably benign |
Het |
| P2ry1 |
T |
C |
3: 60,911,916 (GRCm39) |
S352P |
probably damaging |
Het |
| Pde6a |
T |
C |
18: 61,390,382 (GRCm39) |
F535S |
probably damaging |
Het |
| Pitpnb |
T |
C |
5: 111,530,891 (GRCm39) |
L228P |
probably damaging |
Het |
| Rbck1 |
G |
T |
2: 152,161,145 (GRCm39) |
H368N |
probably damaging |
Het |
| Snrnp35 |
T |
A |
5: 124,628,559 (GRCm39) |
V124E |
probably damaging |
Het |
| Spdye4a |
C |
T |
5: 143,204,793 (GRCm39) |
M224I |
probably benign |
Het |
| Stau1 |
A |
G |
2: 166,792,267 (GRCm39) |
Y424H |
probably damaging |
Het |
| Sult1c2 |
A |
T |
17: 54,271,060 (GRCm39) |
D190E |
probably benign |
Het |
| Thbs1 |
A |
G |
2: 117,953,051 (GRCm39) |
D887G |
probably damaging |
Het |
| Tiam2 |
C |
T |
17: 3,558,074 (GRCm39) |
Q1233* |
probably null |
Het |
| Tmem88 |
A |
G |
11: 69,288,939 (GRCm39) |
V38A |
probably damaging |
Het |
| Vmn1r219 |
G |
A |
13: 23,346,902 (GRCm39) |
M30I |
probably benign |
Het |
| Zswim3 |
A |
G |
2: 164,662,261 (GRCm39) |
H247R |
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 |
|
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 |
|
|
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'- TTCATGAAGTAGCTCTGTTAAGGAG -3'
(R):5'- AGGAAACCTTGACTTCGTCC -3'
Sequencing Primer
(F):5'- CCGAACAAGATCAGTTGG -3'
(R):5'- GTCAGGACTACATAGCAAGATCTTG -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation