Incidental Mutation 'R5985:Armh3'
ID |
481630 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Armh3
|
Ensembl Gene |
ENSMUSG00000039901 |
Gene Name |
armadillo-like helical domain containing 3 |
Synonyms |
9130011E15Rik |
MMRRC Submission |
044165-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5985 (G1)
|
Quality Score |
187.009 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
45805803-45986927 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 45808763 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Asparagine
at position 643
(Y643N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000048454
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026247]
[ENSMUST00000045396]
[ENSMUST00000079431]
[ENSMUST00000161886]
[ENSMUST00000162528]
[ENSMUST00000162661]
|
AlphaFold |
Q6PD19 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000026247
|
SMART Domains |
Protein: ENSMUSP00000026247 Gene: ENSMUSG00000025221
Domain | Start | End | E-Value | Type |
EFh
|
126 |
154 |
1e-1 |
SMART |
EFh
|
162 |
190 |
1.88e-6 |
SMART |
EFh
|
210 |
238 |
4.6e-1 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000045396
AA Change: Y643N
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000048454 Gene: ENSMUSG00000039901 AA Change: Y643N
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000079431
|
SMART Domains |
Protein: ENSMUSP00000078400 Gene: ENSMUSG00000025221
Domain | Start | End | E-Value | Type |
EFh
|
126 |
154 |
1e-1 |
SMART |
EFh
|
162 |
190 |
1.88e-6 |
SMART |
EFh
|
210 |
238 |
4.6e-1 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000111906
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161886
|
SMART Domains |
Protein: ENSMUSP00000124482 Gene: ENSMUSG00000025221
Domain | Start | End | E-Value | Type |
EFh
|
94 |
122 |
1e-1 |
SMART |
EFh
|
130 |
158 |
1.88e-6 |
SMART |
EFh
|
178 |
206 |
4.6e-1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162528
|
SMART Domains |
Protein: ENSMUSP00000125142 Gene: ENSMUSG00000025221
Domain | Start | End | E-Value | Type |
low complexity region
|
64 |
75 |
N/A |
INTRINSIC |
EFh
|
144 |
172 |
1e-1 |
SMART |
EFh
|
180 |
208 |
1.88e-6 |
SMART |
EFh
|
228 |
256 |
4.6e-1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162661
|
SMART Domains |
Protein: ENSMUSP00000124821 Gene: ENSMUSG00000025221
Domain | Start | End | E-Value | Type |
EFh
|
94 |
122 |
3.4e-4 |
SMART |
EFh
|
142 |
170 |
1.63e-1 |
SMART |
|
Meta Mutation Damage Score |
0.4973 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.2%
|
Validation Efficiency |
96% (47/49) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
C |
11: 9,241,628 (GRCm39) |
I1164L |
probably benign |
Het |
Actn1 |
C |
A |
12: 80,215,169 (GRCm39) |
G864V |
probably damaging |
Het |
Adgrf1 |
T |
C |
17: 43,604,146 (GRCm39) |
I34T |
probably benign |
Het |
Ankrd10 |
T |
A |
8: 11,669,077 (GRCm39) |
K225* |
probably null |
Het |
Ankrd29 |
G |
A |
18: 12,412,832 (GRCm39) |
A115V |
probably damaging |
Het |
Atg2a |
A |
G |
19: 6,304,667 (GRCm39) |
T1175A |
probably damaging |
Het |
Atp12a |
A |
G |
14: 56,621,798 (GRCm39) |
D781G |
probably damaging |
Het |
B4galnt3 |
G |
A |
6: 120,187,119 (GRCm39) |
P759S |
probably damaging |
Het |
Card10 |
T |
C |
15: 78,675,411 (GRCm39) |
I448V |
probably benign |
Het |
Col15a1 |
T |
C |
4: 47,284,507 (GRCm39) |
F821L |
probably damaging |
Het |
Cpeb3 |
T |
C |
19: 37,064,952 (GRCm39) |
Y498C |
probably damaging |
Het |
Defb37 |
A |
T |
8: 19,036,347 (GRCm39) |
C58S |
probably damaging |
Het |
Faap20 |
T |
C |
4: 155,334,797 (GRCm39) |
|
probably benign |
Het |
Frem1 |
C |
T |
4: 82,884,287 (GRCm39) |
V1204I |
probably benign |
Het |
Gal3st2 |
T |
C |
1: 93,801,335 (GRCm39) |
V46A |
possibly damaging |
Het |
Gan |
C |
T |
8: 117,922,557 (GRCm39) |
S430L |
possibly damaging |
Het |
Gas2 |
T |
A |
7: 51,593,424 (GRCm39) |
I168K |
probably damaging |
Het |
Gli3 |
A |
G |
13: 15,898,140 (GRCm39) |
D740G |
probably damaging |
Het |
Gm3898 |
G |
A |
9: 43,741,329 (GRCm39) |
|
noncoding transcript |
Het |
Gria4 |
T |
C |
9: 4,503,593 (GRCm39) |
Q341R |
probably damaging |
Het |
Herpud1 |
G |
A |
8: 95,117,422 (GRCm39) |
R2Q |
probably damaging |
Het |
Klf15 |
G |
A |
6: 90,443,703 (GRCm39) |
G93R |
possibly damaging |
Het |
Mtmr7 |
A |
G |
8: 41,004,873 (GRCm39) |
F568L |
probably benign |
Het |
Myod1 |
A |
G |
7: 46,027,222 (GRCm39) |
Y229C |
probably damaging |
Het |
Or12e14 |
A |
G |
2: 87,187,949 (GRCm39) |
I54V |
probably benign |
Het |
Or5l13 |
A |
G |
2: 87,779,665 (GRCm39) |
M304T |
probably benign |
Het |
Phf11b |
A |
G |
14: 59,559,027 (GRCm39) |
L235P |
possibly damaging |
Het |
Pira1 |
C |
A |
7: 3,740,316 (GRCm39) |
G302C |
probably damaging |
Het |
Plekha6 |
G |
C |
1: 133,200,045 (GRCm39) |
R208P |
possibly damaging |
Het |
Prox1 |
A |
T |
1: 189,879,152 (GRCm39) |
F675L |
possibly damaging |
Het |
Rnf144a |
C |
T |
12: 26,367,779 (GRCm39) |
E176K |
probably benign |
Het |
Safb2 |
T |
C |
17: 56,870,181 (GRCm39) |
E965G |
possibly damaging |
Het |
Sik3 |
A |
G |
9: 46,122,973 (GRCm39) |
N874S |
probably damaging |
Het |
Slitrk3 |
T |
C |
3: 72,958,233 (GRCm39) |
I180V |
probably damaging |
Het |
Speg |
T |
C |
1: 75,383,328 (GRCm39) |
V1141A |
possibly damaging |
Het |
Spns1 |
G |
A |
7: 125,975,902 (GRCm39) |
T84I |
probably benign |
Het |
Syne2 |
C |
G |
12: 76,012,933 (GRCm39) |
P2709R |
probably damaging |
Het |
Terb1 |
A |
T |
8: 105,178,439 (GRCm39) |
S662T |
probably benign |
Het |
Terb1 |
A |
G |
8: 105,208,948 (GRCm39) |
S377P |
probably damaging |
Het |
Tph1 |
A |
G |
7: 46,303,205 (GRCm39) |
Y258H |
probably damaging |
Het |
Trip12 |
T |
A |
1: 84,703,492 (GRCm39) |
E1881D |
probably damaging |
Het |
Trpc7 |
A |
G |
13: 56,958,358 (GRCm39) |
L412P |
probably damaging |
Het |
Ttll13 |
C |
T |
7: 79,904,386 (GRCm39) |
A337V |
probably damaging |
Het |
Ugt2b1 |
T |
C |
5: 87,067,527 (GRCm39) |
K344E |
possibly damaging |
Het |
Vmn1r36 |
T |
A |
6: 66,693,855 (GRCm39) |
I7F |
probably benign |
Het |
Vmn2r14 |
A |
T |
5: 109,368,082 (GRCm39) |
N303K |
possibly damaging |
Het |
Vmn2r25 |
A |
G |
6: 123,800,587 (GRCm39) |
V585A |
probably benign |
Het |
Zan |
A |
C |
5: 137,444,299 (GRCm39) |
|
probably null |
Het |
Zfp423 |
A |
T |
8: 88,508,774 (GRCm39) |
N502K |
possibly damaging |
Het |
Zfp473 |
C |
T |
7: 44,382,752 (GRCm39) |
R526Q |
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 |
|
R3796:Armh3
|
UTSW |
19 |
45,910,049 (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 |
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'- CAAACTGCTTTGACAGAAAGGC -3'
(R):5'- AAGCGTACACTGGCGGTATC -3'
Sequencing Primer
(F):5'- CTGCATAGCAAGCCCCTGTAG -3'
(R):5'- CCTATAATATCAGCACTTGGGAGGC -3'
|
Posted On |
2017-06-26 |