Incidental Mutation 'IGL03295:Mier3'
ID |
416043 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Mier3
|
Ensembl Gene |
ENSMUSG00000032727 |
Gene Name |
MIER family member 3 |
Synonyms |
D130064H19Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.869)
|
Stock # |
IGL03295
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
111822607-111855130 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 111840215 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Lysine
at position 51
(T51K)
|
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
AA Change: T51K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000036809 Gene: ENSMUSG00000032727 AA Change: T51K
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: T76K
|
SMART Domains |
Protein: ENSMUSP00000104894 Gene: ENSMUSG00000032727 AA Change: T76K
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
AA Change: T78K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000104895 Gene: ENSMUSG00000032727 AA Change: T78K
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
AA Change: T78K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000117483 Gene: ENSMUSG00000032727 AA Change: T78K
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
AA Change: T51K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231979
AA Change: T51K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232398
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232560
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A930011G23Rik |
A |
T |
5: 99,390,915 (GRCm39) |
|
probably benign |
Het |
Adamts5 |
T |
C |
16: 85,674,833 (GRCm39) |
T444A |
probably damaging |
Het |
Aldh18a1 |
T |
C |
19: 40,551,386 (GRCm39) |
E522G |
probably damaging |
Het |
Bbx |
T |
C |
16: 50,044,927 (GRCm39) |
T437A |
probably damaging |
Het |
Bsx |
A |
G |
9: 40,785,743 (GRCm39) |
|
probably benign |
Het |
Cdc42bpa |
A |
G |
1: 179,977,769 (GRCm39) |
N729S |
probably benign |
Het |
Cdk1 |
G |
T |
10: 69,178,373 (GRCm39) |
H162Q |
possibly damaging |
Het |
Chrac1 |
A |
G |
15: 72,965,445 (GRCm39) |
|
probably benign |
Het |
Cip2a |
T |
C |
16: 48,814,704 (GRCm39) |
S22P |
probably damaging |
Het |
Ddx60 |
A |
T |
8: 62,409,155 (GRCm39) |
D397V |
possibly damaging |
Het |
Edn2 |
T |
A |
4: 120,019,178 (GRCm39) |
C56S |
probably damaging |
Het |
Gm4952 |
T |
C |
19: 12,595,691 (GRCm39) |
V27A |
probably benign |
Het |
Herc1 |
T |
A |
9: 66,303,985 (GRCm39) |
S763T |
possibly damaging |
Het |
Hspd1 |
G |
A |
1: 55,119,334 (GRCm39) |
T381I |
probably benign |
Het |
Krt1c |
T |
A |
15: 101,724,864 (GRCm39) |
I249F |
probably damaging |
Het |
Lman2l |
T |
C |
1: 36,477,892 (GRCm39) |
D148G |
probably damaging |
Het |
Lrp1b |
C |
T |
2: 40,568,999 (GRCm39) |
|
probably null |
Het |
Ppp1r36 |
C |
T |
12: 76,485,192 (GRCm39) |
P305L |
probably damaging |
Het |
Pramel27 |
G |
A |
4: 143,579,759 (GRCm39) |
C448Y |
probably damaging |
Het |
Prdm1 |
T |
C |
10: 44,315,866 (GRCm39) |
I790V |
probably damaging |
Het |
Sephs2 |
T |
C |
7: 126,871,941 (GRCm39) |
E384G |
possibly damaging |
Het |
Sipa1l1 |
T |
A |
12: 82,479,714 (GRCm39) |
W1466R |
probably damaging |
Het |
Snai2 |
T |
C |
16: 14,524,638 (GRCm39) |
L48P |
possibly damaging |
Het |
Stt3a |
A |
G |
9: 36,674,627 (GRCm39) |
|
probably null |
Het |
Synj1 |
T |
A |
16: 90,735,318 (GRCm39) |
N1545I |
probably benign |
Het |
Vav2 |
A |
T |
2: 27,165,041 (GRCm39) |
S607T |
possibly damaging |
Het |
Wdr27 |
T |
C |
17: 15,154,837 (GRCm39) |
K27E |
possibly damaging |
Het |
Xcl1 |
A |
T |
1: 164,763,004 (GRCm39) |
V19E |
unknown |
Het |
Xlr3c |
A |
T |
X: 72,301,240 (GRCm39) |
|
probably null |
Het |
Zbtb44 |
T |
A |
9: 30,964,753 (GRCm39) |
D54E |
probably benign |
Het |
Zscan21 |
A |
G |
5: 138,123,540 (GRCm39) |
D73G |
possibly 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 |
|
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 |
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 |
|
|
Posted On |
2016-08-02 |