Incidental Mutation 'R3114:Mier3'
| ID |
263943 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mier3
|
| Ensembl Gene |
ENSMUSG00000032727 |
| Gene Name |
MIER family member 3 |
| Synonyms |
D130064H19Rik |
| MMRRC Submission |
040587-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.869)
|
| Stock # |
R3114 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
111822607-111855130 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 111843182 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 178
(I178N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104895
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047412]
[ENSMUST00000109272]
[ENSMUST00000137268]
[ENSMUST00000231273]
[ENSMUST00000231979]
|
| AlphaFold |
Q3UHF3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000047412
AA Change: I151N
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000036809
Gene: ENSMUSG00000032727
AA Change: I151N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
53 |
65 |
N/A |
INTRINSIC |
|
ELM2
|
149 |
203 |
8.33e-14 |
SMART |
|
SANT
|
251 |
300 |
5.32e-9 |
SMART |
|
low complexity region
|
509 |
522 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000109271
AA Change: I176N
|
| SMART Domains |
Protein: ENSMUSP00000104894
Gene: ENSMUSG00000032727
AA Change: I176N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
16 |
N/A |
INTRINSIC |
|
low complexity region
|
79 |
91 |
N/A |
INTRINSIC |
|
ELM2
|
175 |
229 |
8.33e-14 |
SMART |
|
SANT
|
277 |
326 |
5.32e-9 |
SMART |
|
low complexity region
|
535 |
548 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109272
AA Change: I178N
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000104895
Gene: ENSMUSG00000032727
AA Change: I178N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
17 |
N/A |
INTRINSIC |
|
low complexity region
|
80 |
92 |
N/A |
INTRINSIC |
|
ELM2
|
176 |
230 |
8.33e-14 |
SMART |
|
SANT
|
279 |
328 |
5.32e-9 |
SMART |
|
low complexity region
|
537 |
550 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137268
|
| SMART Domains |
Protein: ENSMUSP00000117483
Gene: ENSMUSG00000032727
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
17 |
N/A |
INTRINSIC |
|
low complexity region
|
80 |
92 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231273
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231979
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232398
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232560
|
| Meta Mutation Damage Score |
0.5114 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
100% (33/33) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atf7 |
C |
T |
15: 102,442,858 (GRCm39) |
S417N |
probably benign |
Het |
| Cdt1 |
C |
T |
8: 123,297,221 (GRCm39) |
Q305* |
probably null |
Het |
| Cfap65 |
T |
A |
1: 74,966,291 (GRCm39) |
K345N |
probably damaging |
Het |
| Chrna3 |
C |
T |
9: 54,923,334 (GRCm39) |
C158Y |
probably damaging |
Het |
| Cnot1 |
T |
C |
8: 96,470,906 (GRCm39) |
E1314G |
possibly damaging |
Het |
| Col11a2 |
T |
G |
17: 34,265,442 (GRCm39) |
V276G |
possibly damaging |
Het |
| Dnah8 |
A |
G |
17: 31,052,542 (GRCm39) |
S4346G |
probably benign |
Het |
| Dnhd1 |
T |
C |
7: 105,345,772 (GRCm39) |
|
probably null |
Het |
| Espl1 |
T |
A |
15: 102,231,639 (GRCm39) |
F1945Y |
possibly damaging |
Het |
| Fzd5 |
A |
G |
1: 64,774,739 (GRCm39) |
F341L |
probably benign |
Het |
| Gm1587 |
T |
G |
14: 78,036,272 (GRCm39) |
E11D |
unknown |
Het |
| H3c3 |
C |
A |
13: 23,929,290 (GRCm39) |
R64L |
probably benign |
Het |
| Ighv5-1 |
A |
G |
12: 113,537,844 (GRCm39) |
|
probably benign |
Het |
| Klhl3 |
A |
G |
13: 58,198,841 (GRCm39) |
|
probably null |
Het |
| Klhl33 |
A |
T |
14: 51,128,972 (GRCm39) |
D752E |
possibly damaging |
Het |
| Krt24 |
T |
A |
11: 99,173,262 (GRCm39) |
T298S |
possibly damaging |
Het |
| Marchf1 |
A |
C |
8: 66,840,033 (GRCm39) |
H272P |
probably benign |
Het |
| Meak7 |
G |
A |
8: 120,495,056 (GRCm39) |
A234V |
probably benign |
Het |
| Mei1 |
C |
T |
15: 82,009,160 (GRCm39) |
A835V |
probably benign |
Het |
| Mlxipl |
A |
G |
5: 135,162,516 (GRCm39) |
|
probably benign |
Het |
| Mob3a |
A |
T |
10: 80,527,136 (GRCm39) |
V63E |
probably damaging |
Het |
| Nos3 |
C |
T |
5: 24,577,629 (GRCm39) |
|
probably benign |
Het |
| Or4a2 |
T |
A |
2: 89,248,757 (GRCm39) |
|
probably null |
Het |
| Pcdha11 |
T |
A |
18: 37,144,860 (GRCm39) |
I317K |
probably damaging |
Het |
| Pcdha4 |
T |
C |
18: 37,086,603 (GRCm39) |
V262A |
probably benign |
Het |
| Pde4d |
T |
A |
13: 110,084,792 (GRCm39) |
M519K |
probably damaging |
Het |
| Pds5a |
A |
G |
5: 65,776,328 (GRCm39) |
S89P |
probably damaging |
Het |
| Ptar1 |
T |
A |
19: 23,695,459 (GRCm39) |
C309S |
probably benign |
Het |
| Rint1 |
A |
G |
5: 24,024,418 (GRCm39) |
N682S |
probably benign |
Het |
| Rnmt |
A |
G |
18: 68,447,079 (GRCm39) |
E321G |
probably benign |
Het |
| Serpinb8 |
A |
G |
1: 107,535,023 (GRCm39) |
I365V |
probably benign |
Het |
| Sik1 |
T |
C |
17: 32,067,106 (GRCm39) |
T505A |
probably benign |
Het |
| Slfn10-ps |
T |
A |
11: 82,919,955 (GRCm39) |
|
noncoding transcript |
Het |
| Spmip8 |
T |
C |
8: 96,039,809 (GRCm39) |
|
probably null |
Het |
| Sspn |
A |
T |
6: 145,880,095 (GRCm39) |
I66F |
possibly damaging |
Het |
| Tsc22d1 |
T |
C |
14: 76,654,777 (GRCm39) |
S337P |
probably damaging |
Het |
| Wdfy4 |
A |
G |
14: 32,811,860 (GRCm39) |
S1715P |
probably damaging |
Het |
|
| Other mutations in Mier3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01061:Mier3
|
APN |
13 |
111,850,970 (GRCm39) |
splice site |
probably benign |
|
|
IGL03295:Mier3
|
APN |
13 |
111,840,215 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03054:Mier3
|
UTSW |
13 |
111,822,848 (GRCm39) |
start gained |
probably benign |
|
|
R0119:Mier3
|
UTSW |
13 |
111,851,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1106:Mier3
|
UTSW |
13 |
111,844,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1453:Mier3
|
UTSW |
13 |
111,841,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1463:Mier3
|
UTSW |
13 |
111,848,289 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1555:Mier3
|
UTSW |
13 |
111,844,893 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2413:Mier3
|
UTSW |
13 |
111,851,662 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R3055:Mier3
|
UTSW |
13 |
111,827,837 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3115:Mier3
|
UTSW |
13 |
111,843,182 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3116:Mier3
|
UTSW |
13 |
111,843,182 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4345:Mier3
|
UTSW |
13 |
111,841,817 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4834:Mier3
|
UTSW |
13 |
111,851,643 (GRCm39) |
nonsense |
probably null |
|
|
R5050:Mier3
|
UTSW |
13 |
111,851,107 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5592:Mier3
|
UTSW |
13 |
111,843,195 (GRCm39) |
nonsense |
probably null |
|
|
R5869:Mier3
|
UTSW |
13 |
111,851,384 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6406:Mier3
|
UTSW |
13 |
111,846,343 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7151:Mier3
|
UTSW |
13 |
111,851,302 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7361:Mier3
|
UTSW |
13 |
111,841,783 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7362:Mier3
|
UTSW |
13 |
111,841,783 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7385:Mier3
|
UTSW |
13 |
111,841,783 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7683:Mier3
|
UTSW |
13 |
111,841,846 (GRCm39) |
missense |
probably benign |
|
|
R8953:Mier3
|
UTSW |
13 |
111,842,587 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9090:Mier3
|
UTSW |
13 |
111,827,870 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9185:Mier3
|
UTSW |
13 |
111,851,260 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9271:Mier3
|
UTSW |
13 |
111,827,870 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9300:Mier3
|
UTSW |
13 |
111,822,890 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CATTAAAGTGGCCTAACTAGATGAC -3'
(R):5'- AGAACTAACTGTCTGGACTAAGG -3'
Sequencing Primer
(F):5'- CCTAACTAGATGACGCTCAGGTG -3'
(R):5'- CTAACTGTCTGGACTAAGGAAGCTC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation