Incidental Mutation 'IGL03054:Mier3'
| ID |
453035 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mier3
|
| Ensembl Gene |
ENSMUSG00000032727 |
| Gene Name |
MIER family member 3 |
| Synonyms |
D130064H19Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.860)
|
| Stock # |
IGL03054 (G1)
|
| Quality Score |
125 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
111822607-111855130 bp(+) (GRCm39) |
| Type of Mutation |
start gained |
| DNA Base Change (assembly) |
C to T
at 111822848 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000156206
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047412]
[ENSMUST00000109272]
[ENSMUST00000137268]
[ENSMUST00000231273]
[ENSMUST00000231979]
|
| AlphaFold |
Q3UHF3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047412
|
| SMART Domains |
Protein: ENSMUSP00000036809
Gene: ENSMUSG00000032727
| 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 |
probably benign
Transcript: ENSMUST00000109271
|
| SMART Domains |
Protein: ENSMUSP00000104894
Gene: ENSMUSG00000032727
| 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 benign
Transcript: ENSMUST00000109272
|
| SMART Domains |
Protein: ENSMUSP00000104895
Gene: ENSMUSG00000032727
| 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 |
noncoding transcript
Transcript: ENSMUST00000146726
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231273
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231466
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231713
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232560
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231979
|
| Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
| Validation Efficiency |
98% (43/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933416I08Rik |
TCC |
TCCC |
X: 52,692,862 (GRCm39) |
|
noncoding transcript |
Het |
| Acsbg3 |
A |
G |
17: 57,193,528 (GRCm39) |
T625A |
possibly damaging |
Het |
| Aloxe3 |
T |
C |
11: 69,020,433 (GRCm39) |
V159A |
possibly damaging |
Het |
| Atp13a2 |
T |
A |
4: 140,734,279 (GRCm39) |
C1134S |
possibly damaging |
Het |
| Ccdc40 |
G |
A |
11: 119,154,027 (GRCm39) |
E1100K |
possibly damaging |
Het |
| Ceacam5 |
A |
T |
7: 17,493,379 (GRCm39) |
T801S |
possibly damaging |
Het |
| Cilp |
TGGG |
TGG |
9: 65,187,412 (GRCm39) |
|
probably null |
Het |
| Col4a2 |
T |
C |
8: 11,498,270 (GRCm39) |
I1693T |
probably damaging |
Het |
| Crb1 |
CG |
C |
1: 139,164,824 (GRCm39) |
|
probably null |
Het |
| Dab2 |
G |
T |
15: 6,447,707 (GRCm39) |
|
probably benign |
Het |
| Dao |
T |
C |
5: 114,162,963 (GRCm39) |
L345P |
probably damaging |
Het |
| Dis3l |
A |
G |
9: 64,217,722 (GRCm39) |
|
probably null |
Het |
| Egr3 |
C |
T |
14: 70,316,561 (GRCm39) |
T124M |
probably damaging |
Het |
| Gng7 |
G |
T |
10: 80,787,485 (GRCm39) |
F59L |
probably damaging |
Het |
| Itgb4 |
C |
A |
11: 115,891,166 (GRCm39) |
Y1190* |
probably null |
Het |
| Lacc1 |
T |
C |
14: 77,268,355 (GRCm39) |
M319V |
possibly damaging |
Het |
| Mapkbp1 |
A |
G |
2: 119,845,881 (GRCm39) |
T417A |
probably damaging |
Het |
| Mlxipl |
A |
G |
5: 135,162,110 (GRCm39) |
D569G |
possibly damaging |
Het |
| Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
| Mrpl15 |
A |
G |
1: 4,855,794 (GRCm39) |
|
probably null |
Het |
| Neb |
T |
C |
2: 52,161,334 (GRCm39) |
N2153D |
probably damaging |
Het |
| Nlrp9c |
A |
G |
7: 26,081,701 (GRCm39) |
|
probably null |
Het |
| Npepps |
C |
T |
11: 97,132,614 (GRCm39) |
|
probably benign |
Het |
| Or13a17 |
T |
G |
7: 140,271,623 (GRCm39) |
S268R |
probably benign |
Het |
| Or1j10 |
A |
T |
2: 36,266,944 (GRCm39) |
H52L |
possibly damaging |
Het |
| Or52z12 |
C |
A |
7: 103,234,047 (GRCm39) |
H273N |
probably benign |
Het |
| Psmc4 |
T |
C |
7: 27,746,605 (GRCm39) |
Y160C |
probably damaging |
Het |
| Rims1 |
T |
C |
1: 22,360,333 (GRCm39) |
Y131C |
probably damaging |
Het |
| Riok1 |
G |
A |
13: 38,231,291 (GRCm39) |
G183D |
probably damaging |
Het |
| Samd9l |
T |
A |
6: 3,376,023 (GRCm39) |
I413F |
probably damaging |
Het |
| Tnfrsf22 |
A |
G |
7: 143,194,532 (GRCm39) |
Y132H |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,726,104 (GRCm39) |
|
probably benign |
Het |
| Tulp1 |
A |
G |
17: 28,578,287 (GRCm39) |
|
probably benign |
Het |
| Usp15 |
C |
A |
10: 122,961,836 (GRCm39) |
|
probably benign |
Het |
| Wdr7 |
G |
T |
18: 63,958,192 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
R3114:Mier3
|
UTSW |
13 |
111,843,182 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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 |
|
| Posted On |
2017-01-24 |
Incidental Mutation