Incidental Mutation 'R1106:Mier3'
| ID |
98494 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mier3
|
| Ensembl Gene |
ENSMUSG00000032727 |
| Gene Name |
MIER family member 3 |
| Synonyms |
D130064H19Rik |
| MMRRC Submission |
039179-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.860)
|
| Stock # |
R1106 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
111822607-111855130 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 111844763 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 205
(D205V)
|
| 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: D178V
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000036809
Gene: ENSMUSG00000032727
AA Change: D178V
| 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: D203V
|
| SMART Domains |
Protein: ENSMUSP00000104894
Gene: ENSMUSG00000032727
AA Change: D203V
| 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: D205V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104895
Gene: ENSMUSG00000032727
AA Change: D205V
| 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
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asic5 |
C |
A |
3: 81,911,897 (GRCm39) |
F122L |
probably damaging |
Het |
| Caml |
A |
G |
13: 55,772,538 (GRCm39) |
T61A |
probably benign |
Het |
| Cfap20 |
A |
T |
8: 96,147,873 (GRCm39) |
I156N |
probably damaging |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Dio2 |
A |
G |
12: 90,704,985 (GRCm39) |
L25P |
probably damaging |
Het |
| Eps8 |
G |
A |
6: 137,491,322 (GRCm39) |
P352L |
probably damaging |
Het |
| Gnai2 |
A |
G |
9: 107,497,385 (GRCm39) |
I3T |
probably damaging |
Het |
| Hexim2 |
T |
C |
11: 103,029,319 (GRCm39) |
S124P |
probably damaging |
Het |
| Klk1b16 |
C |
T |
7: 43,788,937 (GRCm39) |
R57C |
probably damaging |
Het |
| Or2y14 |
A |
G |
11: 49,404,519 (GRCm39) |
D18G |
probably damaging |
Het |
| Or4c102 |
T |
C |
2: 88,422,355 (GRCm39) |
V69A |
probably benign |
Het |
| Ptprz1 |
A |
G |
6: 22,965,748 (GRCm39) |
D192G |
probably damaging |
Het |
| Samd3 |
G |
A |
10: 26,147,689 (GRCm39) |
V455M |
possibly damaging |
Het |
| Slc9c1 |
C |
A |
16: 45,376,170 (GRCm39) |
Q419K |
possibly damaging |
Het |
| Syce1 |
C |
A |
7: 140,359,809 (GRCm39) |
L83F |
probably damaging |
Het |
| Tas2r139 |
A |
G |
6: 42,118,479 (GRCm39) |
T204A |
probably benign |
Het |
| Ush2a |
G |
A |
1: 188,643,180 (GRCm39) |
E4181K |
possibly damaging |
Het |
| Vps37a |
T |
A |
8: 40,965,247 (GRCm39) |
I33N |
probably damaging |
Het |
| Zfp335 |
TTGCTGCTGCTGCTGCTGCT |
TTGCTGCTGCTGCTGCT |
2: 164,749,471 (GRCm39) |
|
probably benign |
Het |
| Zik1 |
G |
A |
7: 10,224,312 (GRCm39) |
R262C |
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 |
|
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 |
PCR Primer
(F):5'- TGCTCTGCTTCATAAGCCCACG -3'
(R):5'- AGAGGAAGCTTACCTGTTCATTATCCCT -3'
Sequencing Primer
(F):5'- ttttaACCATTAGAAAGTTCACAGGG -3'
(R):5'- ACCTGTTCATTATCCCTGGTGTG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation