Incidental Mutation 'R1555:Mier3'
ID |
170236 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mier3
|
Ensembl Gene |
ENSMUSG00000032727 |
Gene Name |
MIER family member 3 |
Synonyms |
D130064H19Rik |
MMRRC Submission |
039594-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.860)
|
Stock # |
R1555 (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 111844893 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 248
(N248K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104895
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047412]
[ENSMUST00000109272]
[ENSMUST00000137268]
[ENSMUST00000231273]
[ENSMUST00000231979]
|
AlphaFold |
Q3UHF3 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000047412
AA Change: N221K
PolyPhen 2
Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000036809 Gene: ENSMUSG00000032727 AA Change: N221K
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: N246K
|
SMART Domains |
Protein: ENSMUSP00000104894 Gene: ENSMUSG00000032727 AA Change: N246K
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: N248K
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000104895 Gene: ENSMUSG00000032727 AA Change: N248K
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 |
0.3851 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 92.0%
|
Validation Efficiency |
96% (43/45) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ace |
A |
G |
11: 105,865,727 (GRCm39) |
|
probably null |
Het |
Adamts1 |
T |
A |
16: 85,594,776 (GRCm39) |
T358S |
probably benign |
Het |
Ate1 |
A |
T |
7: 130,110,821 (GRCm39) |
F169I |
probably benign |
Het |
Cdkl4 |
T |
A |
17: 80,851,043 (GRCm39) |
|
probably benign |
Het |
Clcnkb |
T |
C |
4: 141,139,050 (GRCm39) |
|
probably null |
Het |
Col6a4 |
C |
T |
9: 105,878,085 (GRCm39) |
R1964Q |
possibly damaging |
Het |
Dcakd |
C |
T |
11: 102,891,039 (GRCm39) |
V17I |
probably damaging |
Het |
Dcdc5 |
T |
G |
2: 106,214,480 (GRCm39) |
|
noncoding transcript |
Het |
Erc2 |
T |
A |
14: 27,733,622 (GRCm39) |
D557E |
probably damaging |
Het |
Grid2 |
A |
T |
6: 64,406,668 (GRCm39) |
D676V |
possibly damaging |
Het |
Hebp2 |
G |
T |
10: 18,420,163 (GRCm39) |
T90K |
possibly damaging |
Het |
Igkv10-96 |
C |
T |
6: 68,609,365 (GRCm39) |
|
probably benign |
Het |
Myo5b |
A |
T |
18: 74,702,853 (GRCm39) |
I15F |
probably damaging |
Het |
Neurl3 |
A |
G |
1: 36,305,613 (GRCm39) |
V198A |
probably benign |
Het |
Notch2 |
C |
A |
3: 98,038,656 (GRCm39) |
N1266K |
possibly damaging |
Het |
Nup107 |
A |
G |
10: 117,587,395 (GRCm39) |
|
probably benign |
Het |
Or52e8b |
T |
C |
7: 104,673,729 (GRCm39) |
I153V |
probably benign |
Het |
Or6d14 |
A |
T |
6: 116,533,787 (GRCm39) |
I134F |
probably damaging |
Het |
Phf3 |
G |
T |
1: 30,844,958 (GRCm39) |
H1334N |
possibly damaging |
Het |
Phyhd1 |
T |
A |
2: 30,164,718 (GRCm39) |
I100N |
probably damaging |
Het |
Rad21l |
T |
A |
2: 151,500,348 (GRCm39) |
T224S |
probably benign |
Het |
Rxra |
C |
T |
2: 27,638,690 (GRCm39) |
A231V |
probably benign |
Het |
Sac3d1 |
T |
C |
19: 6,168,435 (GRCm39) |
D61G |
probably damaging |
Het |
Sbf1 |
A |
G |
15: 89,189,279 (GRCm39) |
Y481H |
probably damaging |
Het |
Spg11 |
T |
C |
2: 121,927,858 (GRCm39) |
E642G |
probably damaging |
Het |
Spta1 |
A |
G |
1: 174,006,315 (GRCm39) |
Y159C |
probably damaging |
Het |
Sry |
C |
G |
Y: 2,662,975 (GRCm39) |
Q228H |
unknown |
Het |
Tedc1 |
G |
T |
12: 113,120,117 (GRCm39) |
|
probably benign |
Het |
Tmem200a |
A |
T |
10: 25,869,782 (GRCm39) |
D162E |
probably damaging |
Het |
Tmprss11e |
T |
A |
5: 86,863,447 (GRCm39) |
Q206L |
probably damaging |
Het |
Tpra1 |
A |
G |
6: 88,887,185 (GRCm39) |
N175S |
probably damaging |
Het |
Ttll10 |
T |
C |
4: 156,119,596 (GRCm39) |
E601G |
probably benign |
Het |
Ttll6 |
G |
T |
11: 96,036,408 (GRCm39) |
D346Y |
probably damaging |
Het |
U2surp |
A |
G |
9: 95,348,630 (GRCm39) |
V874A |
probably damaging |
Het |
Vwa5b1 |
T |
C |
4: 138,332,788 (GRCm39) |
K258R |
probably benign |
Het |
Xkr6 |
A |
G |
14: 64,056,374 (GRCm39) |
Y95C |
unknown |
Het |
Zfp180 |
T |
C |
7: 23,800,999 (GRCm39) |
|
probably benign |
Het |
Zfp90 |
A |
G |
8: 107,150,727 (GRCm39) |
T147A |
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 |
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 |
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'- AGGCACAGGCCGGACATTCTTT -3'
(R):5'- agccccTCTTGCTGCTCTTGTA -3'
Sequencing Primer
(F):5'- GGCCGGACATTCTTTATTTAATGC -3'
(R):5'- tcgggaggcagaggcag -3'
|
Posted On |
2014-04-13 |