Incidental Mutation 'R5663:Mier1'
| ID |
444189 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mier1
|
| Ensembl Gene |
ENSMUSG00000028522 |
| Gene Name |
MEIR1 treanscription regulator |
| Synonyms |
4933425I22Rik, 5830411K19Rik |
| MMRRC Submission |
043306-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5663 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
102971587-103022951 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 103007739 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 285
(S285T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102470
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030247]
[ENSMUST00000097945]
[ENSMUST00000106855]
[ENSMUST00000106857]
[ENSMUST00000106858]
|
| AlphaFold |
Q5UAK0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030247
AA Change: S302T
PolyPhen 2
Score 0.620 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000030247
Gene: ENSMUSG00000028522
AA Change: S302T
| 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 |
possibly damaging
Transcript: ENSMUST00000097945
AA Change: S330T
PolyPhen 2
Score 0.552 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000095558
Gene: ENSMUSG00000028522
AA Change: S330T
| 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: S104T
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000102468
Gene: ENSMUSG00000028522
AA Change: S104T
| 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: S285T
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000102470
Gene: ENSMUSG00000028522
AA Change: S285T
| 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: S302T
PolyPhen 2
Score 0.620 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000102471
Gene: ENSMUSG00000028522
AA Change: S302T
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgra3 |
T |
C |
5: 50,156,627 (GRCm39) |
N368D |
probably benign |
Het |
| Agfg1 |
T |
A |
1: 82,871,173 (GRCm39) |
S444R |
probably damaging |
Het |
| Arhgap44 |
A |
T |
11: 64,915,117 (GRCm39) |
F384I |
probably damaging |
Het |
| Atp8b2 |
T |
C |
3: 89,849,101 (GRCm39) |
N1078D |
probably benign |
Het |
| Bcan |
G |
A |
3: 87,902,920 (GRCm39) |
T286I |
probably damaging |
Het |
| Cacna1d |
A |
G |
14: 29,845,297 (GRCm39) |
L624P |
probably damaging |
Het |
| Ccn5 |
G |
A |
2: 163,667,173 (GRCm39) |
R58Q |
probably damaging |
Het |
| Cimip1 |
C |
T |
2: 173,369,690 (GRCm39) |
P68L |
probably damaging |
Het |
| Dnah7c |
C |
A |
1: 46,574,308 (GRCm39) |
F994L |
probably damaging |
Het |
| Dpp6 |
A |
G |
5: 27,254,620 (GRCm39) |
I12V |
possibly damaging |
Het |
| Edil3 |
A |
G |
13: 89,190,627 (GRCm39) |
I101M |
probably damaging |
Het |
| Elapor1 |
T |
C |
3: 108,399,399 (GRCm39) |
T64A |
probably benign |
Het |
| Farp2 |
T |
C |
1: 93,497,735 (GRCm39) |
V255A |
probably damaging |
Het |
| Fhip1a |
T |
C |
3: 85,579,740 (GRCm39) |
T822A |
probably benign |
Het |
| Fzr1 |
A |
G |
10: 81,206,360 (GRCm39) |
S137P |
probably benign |
Het |
| H2-Eb2 |
T |
C |
17: 34,552,382 (GRCm39) |
F76L |
possibly damaging |
Het |
| Helb |
A |
G |
10: 119,941,698 (GRCm39) |
I330T |
possibly damaging |
Het |
| Il18rap |
T |
A |
1: 40,570,717 (GRCm39) |
C220S |
probably damaging |
Het |
| Kdm4c |
T |
C |
4: 74,317,585 (GRCm39) |
V966A |
probably damaging |
Het |
| Kdm5b |
T |
C |
1: 134,558,373 (GRCm39) |
V1460A |
probably benign |
Het |
| Kif15 |
T |
A |
9: 122,820,916 (GRCm39) |
|
probably null |
Het |
| Liat1 |
A |
G |
11: 75,891,047 (GRCm39) |
K54E |
probably damaging |
Het |
| Lrrc37 |
A |
G |
11: 103,503,949 (GRCm39) |
V497A |
probably benign |
Het |
| Masp1 |
T |
C |
16: 23,271,688 (GRCm39) |
E621G |
possibly damaging |
Het |
| Mroh6 |
A |
G |
15: 75,760,437 (GRCm39) |
S46P |
probably benign |
Het |
| Myo1h |
A |
T |
5: 114,472,155 (GRCm39) |
Q395L |
probably damaging |
Het |
| Ndufb5 |
T |
C |
3: 32,801,898 (GRCm39) |
I86T |
possibly damaging |
Het |
| Nelfb |
T |
A |
2: 25,093,501 (GRCm39) |
E417V |
probably benign |
Het |
| Nfkb1 |
T |
G |
3: 135,309,612 (GRCm39) |
D494A |
possibly damaging |
Het |
| Nid1 |
G |
A |
13: 13,647,419 (GRCm39) |
C395Y |
probably damaging |
Het |
| Nr4a3 |
G |
T |
4: 48,055,931 (GRCm39) |
R319I |
probably damaging |
Het |
| Or2ag13 |
T |
A |
7: 106,472,877 (GRCm39) |
T192S |
probably benign |
Het |
| Or4e1 |
A |
T |
14: 52,701,052 (GRCm39) |
I138K |
probably benign |
Het |
| Or6f2 |
G |
A |
7: 139,756,234 (GRCm39) |
C67Y |
probably damaging |
Het |
| Paqr5 |
A |
G |
9: 61,876,144 (GRCm39) |
V130A |
probably benign |
Het |
| Phlpp2 |
G |
A |
8: 110,630,976 (GRCm39) |
V207I |
probably benign |
Het |
| Pik3ca |
C |
T |
3: 32,516,928 (GRCm39) |
T1052M |
probably damaging |
Het |
| Pikfyve |
T |
C |
1: 65,255,187 (GRCm39) |
Y347H |
probably benign |
Het |
| Ptprz1 |
A |
G |
6: 23,035,142 (GRCm39) |
H1964R |
probably damaging |
Het |
| Rassf7 |
C |
T |
7: 140,797,003 (GRCm39) |
T72I |
probably damaging |
Het |
| Rfx3 |
A |
G |
19: 27,771,017 (GRCm39) |
F603S |
probably damaging |
Het |
| Slc27a4 |
T |
A |
2: 29,702,382 (GRCm39) |
V477D |
probably damaging |
Het |
| Slc9a3 |
A |
C |
13: 74,311,831 (GRCm39) |
D593A |
probably damaging |
Het |
| Smyd1 |
A |
G |
6: 71,216,705 (GRCm39) |
I14T |
probably benign |
Het |
| Sox6 |
T |
A |
7: 115,149,289 (GRCm39) |
I404L |
probably benign |
Het |
| Tas2r121 |
G |
A |
6: 132,677,520 (GRCm39) |
H151Y |
probably benign |
Het |
| Tgfb1 |
C |
T |
7: 25,393,706 (GRCm39) |
T192M |
possibly damaging |
Het |
| Ubr4 |
T |
C |
4: 139,155,894 (GRCm39) |
Y2240H |
possibly damaging |
Het |
| Whrn |
T |
A |
4: 63,336,685 (GRCm39) |
N626Y |
probably damaging |
Het |
| Xrra1 |
T |
A |
7: 99,535,250 (GRCm39) |
I185N |
probably damaging |
Het |
| Zfp94 |
G |
A |
7: 24,002,252 (GRCm39) |
R397W |
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 |
|
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'- TGGTCCAAATTTGAGATTGGAGAG -3'
(R):5'- AGTCACCTGGCAAATACATCAG -3'
Sequencing Primer
(F):5'- GGAGAGTTTAGGACTAAATTGTTCC -3'
(R):5'- CTGGCAAATACATCAGGCAGTATAAG -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation