Incidental Mutation 'R3796:Armh3'
ID |
272783 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Armh3
|
Ensembl Gene |
ENSMUSG00000039901 |
Gene Name |
armadillo-like helical domain containing 3 |
Synonyms |
9130011E15Rik |
MMRRC Submission |
040757-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R3796 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
45805803-45986927 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 45910049 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000048454
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045396]
|
AlphaFold |
Q6PD19 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000045396
|
SMART Domains |
Protein: ENSMUSP00000048454 Gene: ENSMUSG00000039901
Domain | Start | End | E-Value | Type |
low complexity region
|
155 |
167 |
N/A |
INTRINSIC |
low complexity region
|
327 |
348 |
N/A |
INTRINSIC |
DUF1741
|
435 |
671 |
5.65e-139 |
SMART |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
Validation Efficiency |
100% (40/40) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts17 |
A |
G |
7: 66,489,662 (GRCm39) |
|
probably null |
Het |
Alpk3 |
C |
A |
7: 80,742,501 (GRCm39) |
P773T |
probably benign |
Het |
Alppl2 |
A |
G |
1: 87,016,076 (GRCm39) |
|
probably null |
Het |
Basp1 |
C |
A |
15: 25,364,398 (GRCm39) |
|
probably benign |
Het |
Clec14a |
G |
A |
12: 58,314,695 (GRCm39) |
A309V |
probably benign |
Het |
Clk2 |
A |
G |
3: 89,082,996 (GRCm39) |
N424S |
probably benign |
Het |
Cops7a |
C |
T |
6: 124,936,795 (GRCm39) |
R252H |
probably damaging |
Het |
Csmd2 |
C |
T |
4: 128,411,388 (GRCm39) |
P2469S |
probably benign |
Het |
Cwf19l1 |
A |
G |
19: 44,103,006 (GRCm39) |
V403A |
probably damaging |
Het |
Dnajc16 |
G |
T |
4: 141,495,048 (GRCm39) |
D521E |
probably benign |
Het |
Dnm2 |
T |
C |
9: 21,416,783 (GRCm39) |
V772A |
probably benign |
Het |
Dst |
G |
T |
1: 34,220,996 (GRCm39) |
V2267F |
probably benign |
Het |
Eif3d |
A |
G |
15: 77,852,769 (GRCm39) |
F4S |
probably damaging |
Het |
Fgfr1 |
G |
A |
8: 26,062,453 (GRCm39) |
D663N |
probably damaging |
Het |
Hmcn1 |
A |
G |
1: 150,462,169 (GRCm39) |
Y5170H |
probably damaging |
Het |
Kcna2 |
T |
A |
3: 107,012,906 (GRCm39) |
L496I |
probably benign |
Het |
Krt8 |
T |
C |
15: 101,907,877 (GRCm39) |
I233V |
probably benign |
Het |
Mfap1b |
A |
G |
2: 121,304,386 (GRCm39) |
V3A |
probably benign |
Het |
Phrf1 |
C |
T |
7: 140,839,831 (GRCm39) |
R243* |
probably null |
Het |
Plbd2 |
A |
T |
5: 120,630,933 (GRCm39) |
I224N |
probably damaging |
Het |
Rab19 |
T |
C |
6: 39,360,975 (GRCm39) |
V41A |
probably benign |
Het |
Rrm1 |
T |
A |
7: 102,114,910 (GRCm39) |
|
probably null |
Het |
Sacs |
T |
C |
14: 61,443,570 (GRCm39) |
V1872A |
possibly damaging |
Het |
Setd2 |
T |
C |
9: 110,378,639 (GRCm39) |
V818A |
probably benign |
Het |
Shprh |
C |
T |
10: 11,054,501 (GRCm39) |
L1037F |
possibly damaging |
Het |
Slc24a3 |
A |
G |
2: 145,458,601 (GRCm39) |
D527G |
probably damaging |
Het |
Slc27a6 |
T |
C |
18: 58,731,823 (GRCm39) |
|
probably benign |
Het |
Slc35g3 |
A |
G |
11: 69,651,743 (GRCm39) |
F103L |
probably benign |
Het |
Slc5a1 |
A |
G |
5: 33,309,996 (GRCm39) |
D408G |
probably damaging |
Het |
Spag6l |
A |
T |
16: 16,580,916 (GRCm39) |
I477N |
probably damaging |
Het |
Srgap1 |
A |
G |
10: 121,883,037 (GRCm39) |
V21A |
probably benign |
Het |
Trim7 |
A |
G |
11: 48,736,497 (GRCm39) |
|
probably null |
Het |
Trpa1 |
T |
C |
1: 14,963,488 (GRCm39) |
N578S |
possibly damaging |
Het |
Xdh |
T |
C |
17: 74,214,653 (GRCm39) |
E764G |
probably damaging |
Het |
Zfp518a |
G |
T |
19: 40,903,754 (GRCm39) |
V1228F |
probably damaging |
Het |
|
Other mutations in Armh3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00392:Armh3
|
APN |
19 |
45,928,927 (GRCm39) |
missense |
probably benign |
0.19 |
IGL00788:Armh3
|
APN |
19 |
45,920,789 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01356:Armh3
|
APN |
19 |
45,954,742 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL01477:Armh3
|
APN |
19 |
45,967,043 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01660:Armh3
|
APN |
19 |
45,928,915 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02193:Armh3
|
APN |
19 |
45,961,323 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02863:Armh3
|
APN |
19 |
45,946,850 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03108:Armh3
|
APN |
19 |
45,808,792 (GRCm39) |
missense |
probably damaging |
0.99 |
R0035:Armh3
|
UTSW |
19 |
45,879,679 (GRCm39) |
missense |
probably damaging |
1.00 |
R0791:Armh3
|
UTSW |
19 |
45,922,307 (GRCm39) |
splice site |
probably null |
|
R0792:Armh3
|
UTSW |
19 |
45,922,307 (GRCm39) |
splice site |
probably null |
|
R1487:Armh3
|
UTSW |
19 |
45,928,882 (GRCm39) |
critical splice donor site |
probably null |
|
R1843:Armh3
|
UTSW |
19 |
45,963,691 (GRCm39) |
missense |
probably benign |
0.17 |
R2061:Armh3
|
UTSW |
19 |
45,967,106 (GRCm39) |
missense |
probably damaging |
1.00 |
R2070:Armh3
|
UTSW |
19 |
45,879,724 (GRCm39) |
missense |
probably damaging |
1.00 |
R2072:Armh3
|
UTSW |
19 |
45,953,820 (GRCm39) |
missense |
probably damaging |
0.99 |
R2073:Armh3
|
UTSW |
19 |
45,953,820 (GRCm39) |
missense |
probably damaging |
0.99 |
R2074:Armh3
|
UTSW |
19 |
45,953,820 (GRCm39) |
missense |
probably damaging |
0.99 |
R2091:Armh3
|
UTSW |
19 |
45,941,119 (GRCm39) |
missense |
probably damaging |
1.00 |
R2263:Armh3
|
UTSW |
19 |
45,920,788 (GRCm39) |
critical splice donor site |
probably null |
|
R2863:Armh3
|
UTSW |
19 |
45,874,396 (GRCm39) |
missense |
probably damaging |
1.00 |
R3236:Armh3
|
UTSW |
19 |
45,963,722 (GRCm39) |
splice site |
probably benign |
|
R4044:Armh3
|
UTSW |
19 |
45,808,763 (GRCm39) |
missense |
probably damaging |
1.00 |
R4716:Armh3
|
UTSW |
19 |
45,948,781 (GRCm39) |
missense |
probably damaging |
1.00 |
R4974:Armh3
|
UTSW |
19 |
45,808,726 (GRCm39) |
missense |
probably damaging |
1.00 |
R4983:Armh3
|
UTSW |
19 |
45,939,146 (GRCm39) |
missense |
probably benign |
|
R5063:Armh3
|
UTSW |
19 |
45,874,394 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5313:Armh3
|
UTSW |
19 |
45,807,414 (GRCm39) |
missense |
probably damaging |
1.00 |
R5782:Armh3
|
UTSW |
19 |
45,874,466 (GRCm39) |
missense |
probably benign |
0.08 |
R5985:Armh3
|
UTSW |
19 |
45,808,763 (GRCm39) |
missense |
probably damaging |
1.00 |
R6220:Armh3
|
UTSW |
19 |
45,834,554 (GRCm39) |
missense |
possibly damaging |
0.79 |
R6379:Armh3
|
UTSW |
19 |
45,910,136 (GRCm39) |
missense |
possibly damaging |
0.46 |
R6674:Armh3
|
UTSW |
19 |
45,963,437 (GRCm39) |
missense |
probably benign |
0.06 |
R6842:Armh3
|
UTSW |
19 |
45,807,416 (GRCm39) |
missense |
probably benign |
0.05 |
R6890:Armh3
|
UTSW |
19 |
45,948,796 (GRCm39) |
missense |
probably damaging |
1.00 |
R7034:Armh3
|
UTSW |
19 |
45,953,688 (GRCm39) |
missense |
probably damaging |
0.98 |
R7036:Armh3
|
UTSW |
19 |
45,953,688 (GRCm39) |
missense |
probably damaging |
0.98 |
R7305:Armh3
|
UTSW |
19 |
45,880,560 (GRCm39) |
missense |
probably benign |
0.35 |
R7411:Armh3
|
UTSW |
19 |
45,953,874 (GRCm39) |
missense |
probably benign |
0.00 |
R7762:Armh3
|
UTSW |
19 |
45,928,882 (GRCm39) |
critical splice donor site |
probably null |
|
R8021:Armh3
|
UTSW |
19 |
45,945,180 (GRCm39) |
critical splice acceptor site |
probably null |
|
R8366:Armh3
|
UTSW |
19 |
45,920,793 (GRCm39) |
missense |
probably damaging |
1.00 |
R9336:Armh3
|
UTSW |
19 |
45,945,120 (GRCm39) |
missense |
probably damaging |
1.00 |
X0060:Armh3
|
UTSW |
19 |
45,920,832 (GRCm39) |
missense |
possibly damaging |
0.95 |
Z1088:Armh3
|
UTSW |
19 |
45,807,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CAACTGTTTCTAAAGGCTGATACAC -3'
(R):5'- CTGCCTCCCTACAGAAATGGTC -3'
Sequencing Primer
(F):5'- AAGCAGGCGTGGACCAC -3'
(R):5'- TCCCTACAGAAATGGTCCAGGTG -3'
|
Posted On |
2015-03-25 |