Incidental Mutation 'R6583:Armc12'
| ID |
524252 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Armc12
|
| Ensembl Gene |
ENSMUSG00000024223 |
| Gene Name |
armadillo repeat containing 12 |
| Synonyms |
4930511I11Rik |
| MMRRC Submission |
044707-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.097)
|
| Stock # |
R6583 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
28749835-28757949 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 28757588 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 240
(Q240L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025060
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025060]
|
| AlphaFold |
Q80X86 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000025060
AA Change: Q240L
PolyPhen 2
Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000025060
Gene: ENSMUSG00000024223
AA Change: Q240L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
20 |
34 |
N/A |
INTRINSIC |
|
Pfam:Arm_2
|
64 |
310 |
5e-24 |
PFAM |
|
low complexity region
|
324 |
335 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank2 |
A |
C |
3: 126,810,613 (GRCm39) |
I491S |
probably damaging |
Het |
| Cntnap5c |
C |
T |
17: 58,637,272 (GRCm39) |
P1050S |
probably damaging |
Het |
| Col4a3 |
C |
A |
1: 82,619,197 (GRCm39) |
A42E |
unknown |
Het |
| D630003M21Rik |
A |
G |
2: 158,062,436 (GRCm39) |
V28A |
probably damaging |
Het |
| Dbf4 |
A |
G |
5: 8,448,143 (GRCm39) |
S355P |
probably damaging |
Het |
| Dnah6 |
A |
G |
6: 73,150,516 (GRCm39) |
V749A |
probably benign |
Het |
| Exoc4 |
T |
C |
6: 33,792,688 (GRCm39) |
L606P |
probably damaging |
Het |
| Fggy |
T |
C |
4: 95,489,210 (GRCm39) |
S109P |
probably benign |
Het |
| Gdf7 |
T |
A |
12: 8,351,758 (GRCm39) |
Q59L |
unknown |
Het |
| M6pr |
T |
C |
6: 122,290,349 (GRCm39) |
V104A |
probably damaging |
Het |
| Macf1 |
A |
T |
4: 123,364,739 (GRCm39) |
|
probably null |
Het |
| Micu2 |
T |
C |
14: 58,181,127 (GRCm39) |
K169R |
probably damaging |
Het |
| Mthfd1l |
A |
G |
10: 3,997,937 (GRCm39) |
D636G |
probably damaging |
Het |
| Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
| Nfib |
T |
G |
4: 82,416,708 (GRCm39) |
D125A |
probably damaging |
Het |
| Nuf2 |
T |
C |
1: 169,332,117 (GRCm39) |
T393A |
probably benign |
Het |
| Or8b49 |
G |
A |
9: 38,506,260 (GRCm39) |
V248I |
possibly damaging |
Het |
| Paox |
T |
A |
7: 139,706,291 (GRCm39) |
N70K |
probably damaging |
Het |
| Pnma8b |
A |
G |
7: 16,679,844 (GRCm39) |
N276S |
probably damaging |
Het |
| Ralgds |
G |
A |
2: 28,423,656 (GRCm39) |
A32T |
probably damaging |
Het |
| Samd11 |
T |
A |
4: 156,332,591 (GRCm39) |
N446I |
possibly damaging |
Het |
| Soat1 |
T |
C |
1: 156,294,062 (GRCm39) |
|
probably null |
Het |
| Tmem87a |
A |
T |
2: 120,205,958 (GRCm39) |
V339E |
possibly damaging |
Het |
| Tmprss13 |
G |
T |
9: 45,256,603 (GRCm39) |
C516F |
probably damaging |
Het |
| Vmn2r69 |
T |
C |
7: 85,059,017 (GRCm39) |
T515A |
probably benign |
Het |
| Xrcc5 |
T |
C |
1: 72,351,752 (GRCm39) |
|
probably null |
Het |
| Ywhaz |
T |
C |
15: 36,791,166 (GRCm39) |
Y19C |
probably damaging |
Het |
| Zfp964 |
G |
T |
8: 70,115,633 (GRCm39) |
D78Y |
probably damaging |
Het |
|
| Other mutations in Armc12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02222:Armc12
|
APN |
17 |
28,757,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0242:Armc12
|
UTSW |
17 |
28,751,366 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0242:Armc12
|
UTSW |
17 |
28,751,366 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0787:Armc12
|
UTSW |
17 |
28,757,740 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1428:Armc12
|
UTSW |
17 |
28,756,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1800:Armc12
|
UTSW |
17 |
28,757,869 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4703:Armc12
|
UTSW |
17 |
28,751,336 (GRCm39) |
missense |
probably benign |
0.41 |
|
R7677:Armc12
|
UTSW |
17 |
28,756,865 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8021:Armc12
|
UTSW |
17 |
28,749,879 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8069:Armc12
|
UTSW |
17 |
28,751,410 (GRCm39) |
nonsense |
probably null |
|
|
R8350:Armc12
|
UTSW |
17 |
28,751,031 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8450:Armc12
|
UTSW |
17 |
28,751,031 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8552:Armc12
|
UTSW |
17 |
28,757,675 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9229:Armc12
|
UTSW |
17 |
28,751,345 (GRCm39) |
missense |
probably benign |
|
|
R9695:Armc12
|
UTSW |
17 |
28,749,993 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9701:Armc12
|
UTSW |
17 |
28,751,375 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0022:Armc12
|
UTSW |
17 |
28,751,419 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
Z1088:Armc12
|
UTSW |
17 |
28,751,033 (GRCm39) |
missense |
probably benign |
0.27 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTTCTCTTGACCGTGATGCAG -3'
(R):5'- TCTGAACTTCCTCCTCAGGGTG -3'
Sequencing Primer
(F):5'- TGCAGTCTCTCTGGAAAACG -3'
(R):5'- TCCTCCTCAGGGTGGATGAC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation