Incidental Mutation 'R5939:Armh1'
ID |
462419 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Armh1
|
Ensembl Gene |
ENSMUSG00000060268 |
Gene Name |
armadillo-like helical domain containing 1 |
Synonyms |
LOC381544, LOC381543, Ncrna00082, Gm1661 |
MMRRC Submission |
043243-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.093)
|
Stock # |
R5939 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
117070531-117109322 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 117087119 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 182
(Y182C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128613
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077500]
[ENSMUST00000165128]
|
AlphaFold |
E9Q963 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000077500
AA Change: Y182C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000076706 Gene: ENSMUSG00000060268 AA Change: Y182C
Domain | Start | End | E-Value | Type |
SCOP:d1qbkb_
|
156 |
272 |
3e-3 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000165128
AA Change: Y182C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000128613 Gene: ENSMUSG00000060268 AA Change: Y182C
Domain | Start | End | E-Value | Type |
low complexity region
|
162 |
176 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam32 |
A |
T |
8: 25,404,138 (GRCm39) |
F225I |
probably damaging |
Het |
Ager |
G |
T |
17: 34,817,175 (GRCm39) |
C38F |
probably damaging |
Het |
Arel1 |
C |
A |
12: 84,973,066 (GRCm39) |
R577L |
probably damaging |
Het |
Cabp2 |
G |
T |
19: 4,136,470 (GRCm39) |
C172F |
possibly damaging |
Het |
Cenps |
C |
A |
4: 149,214,658 (GRCm39) |
|
probably benign |
Het |
D630045J12Rik |
A |
C |
6: 38,171,904 (GRCm39) |
S755A |
possibly damaging |
Het |
Duox1 |
A |
T |
2: 122,176,832 (GRCm39) |
H1451L |
probably damaging |
Het |
Dync2h1 |
A |
G |
9: 7,037,801 (GRCm39) |
V3359A |
probably damaging |
Het |
Erlin2 |
T |
C |
8: 27,526,554 (GRCm39) |
F305L |
probably benign |
Het |
Gm10428 |
A |
C |
11: 62,644,288 (GRCm39) |
|
probably benign |
Het |
Gnal |
G |
A |
18: 67,324,456 (GRCm39) |
V204M |
probably damaging |
Het |
Intu |
T |
C |
3: 40,647,014 (GRCm39) |
V629A |
probably damaging |
Het |
Lrguk |
G |
T |
6: 34,055,688 (GRCm39) |
C435F |
probably damaging |
Het |
Man1c1 |
C |
T |
4: 134,293,147 (GRCm39) |
V543M |
probably damaging |
Het |
Mcm3ap |
A |
G |
10: 76,344,195 (GRCm39) |
H1779R |
probably benign |
Het |
Neb |
T |
C |
2: 52,147,606 (GRCm39) |
T2776A |
probably benign |
Het |
Nek10 |
A |
T |
14: 14,931,290 (GRCm38) |
Y754F |
possibly damaging |
Het |
Nr3c1 |
A |
G |
18: 39,553,706 (GRCm39) |
I664T |
probably benign |
Het |
Nrip1 |
T |
C |
16: 76,089,010 (GRCm39) |
E849G |
probably damaging |
Het |
Nrros |
A |
G |
16: 31,962,272 (GRCm39) |
F546L |
probably benign |
Het |
Or12e8 |
A |
C |
2: 87,188,048 (GRCm39) |
I87L |
possibly damaging |
Het |
Or5d39 |
T |
C |
2: 87,979,853 (GRCm39) |
Y170C |
probably damaging |
Het |
Pcdhb16 |
A |
G |
18: 37,611,117 (GRCm39) |
T26A |
probably benign |
Het |
Penk |
A |
G |
4: 4,138,010 (GRCm39) |
F45S |
probably benign |
Het |
Pgap4 |
T |
A |
4: 49,586,412 (GRCm39) |
Q252L |
probably damaging |
Het |
Ppp2r3d |
A |
T |
9: 101,089,824 (GRCm39) |
N166K |
probably benign |
Het |
Psmb1 |
A |
G |
17: 15,718,440 (GRCm39) |
F29L |
probably damaging |
Het |
Rab23 |
T |
C |
1: 33,762,990 (GRCm39) |
V20A |
probably damaging |
Het |
Ryr1 |
C |
T |
7: 28,815,552 (GRCm39) |
A113T |
probably damaging |
Het |
Ryr2 |
C |
T |
13: 11,805,218 (GRCm39) |
R882K |
probably damaging |
Het |
Slc6a6 |
A |
G |
6: 91,731,929 (GRCm39) |
N586S |
probably benign |
Het |
Slc9c1 |
A |
G |
16: 45,368,031 (GRCm39) |
I207V |
probably benign |
Het |
Spef2 |
G |
A |
15: 9,614,301 (GRCm39) |
T1215I |
probably benign |
Het |
Thoc2l |
T |
C |
5: 104,667,073 (GRCm39) |
Y532H |
possibly damaging |
Het |
Tmc7 |
C |
T |
7: 118,144,950 (GRCm39) |
A537T |
probably benign |
Het |
Tmem70 |
T |
C |
1: 16,747,615 (GRCm39) |
V243A |
probably benign |
Het |
Top2b |
T |
C |
14: 16,422,786 (GRCm38) |
Y1408H |
probably damaging |
Het |
Tpcn1 |
A |
T |
5: 120,677,892 (GRCm39) |
F642I |
probably damaging |
Het |
Xirp1 |
T |
G |
9: 119,847,575 (GRCm39) |
D436A |
probably benign |
Het |
|
Other mutations in Armh1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02049:Armh1
|
APN |
4 |
117,094,860 (GRCm39) |
missense |
probably benign |
0.37 |
R0350:Armh1
|
UTSW |
4 |
117,072,753 (GRCm39) |
nonsense |
probably null |
|
R0584:Armh1
|
UTSW |
4 |
117,087,047 (GRCm39) |
missense |
probably damaging |
1.00 |
R1570:Armh1
|
UTSW |
4 |
117,087,189 (GRCm39) |
missense |
probably damaging |
1.00 |
R4335:Armh1
|
UTSW |
4 |
117,071,660 (GRCm39) |
missense |
probably damaging |
0.99 |
R4898:Armh1
|
UTSW |
4 |
117,094,977 (GRCm39) |
missense |
probably damaging |
1.00 |
R6300:Armh1
|
UTSW |
4 |
117,088,979 (GRCm39) |
missense |
probably damaging |
1.00 |
R6815:Armh1
|
UTSW |
4 |
117,087,134 (GRCm39) |
missense |
probably damaging |
1.00 |
R7526:Armh1
|
UTSW |
4 |
117,070,938 (GRCm39) |
missense |
probably benign |
0.02 |
R7529:Armh1
|
UTSW |
4 |
117,070,938 (GRCm39) |
missense |
probably benign |
0.02 |
R7630:Armh1
|
UTSW |
4 |
117,070,938 (GRCm39) |
missense |
probably benign |
0.02 |
R7632:Armh1
|
UTSW |
4 |
117,070,938 (GRCm39) |
missense |
probably benign |
0.02 |
R7659:Armh1
|
UTSW |
4 |
117,070,938 (GRCm39) |
missense |
probably benign |
0.02 |
R7660:Armh1
|
UTSW |
4 |
117,070,938 (GRCm39) |
missense |
probably benign |
0.02 |
R7662:Armh1
|
UTSW |
4 |
117,070,938 (GRCm39) |
missense |
probably benign |
0.02 |
R7663:Armh1
|
UTSW |
4 |
117,070,938 (GRCm39) |
missense |
probably benign |
0.02 |
R7665:Armh1
|
UTSW |
4 |
117,070,938 (GRCm39) |
missense |
probably benign |
0.02 |
R7666:Armh1
|
UTSW |
4 |
117,070,938 (GRCm39) |
missense |
probably benign |
0.02 |
R7713:Armh1
|
UTSW |
4 |
117,071,425 (GRCm39) |
missense |
possibly damaging |
0.65 |
R8030:Armh1
|
UTSW |
4 |
117,087,184 (GRCm39) |
missense |
probably benign |
0.31 |
R8433:Armh1
|
UTSW |
4 |
117,085,535 (GRCm39) |
missense |
probably benign |
0.43 |
R8693:Armh1
|
UTSW |
4 |
117,088,960 (GRCm39) |
missense |
probably damaging |
1.00 |
R8756:Armh1
|
UTSW |
4 |
117,094,861 (GRCm39) |
missense |
probably benign |
|
R8832:Armh1
|
UTSW |
4 |
117,094,867 (GRCm39) |
missense |
probably damaging |
0.97 |
R8957:Armh1
|
UTSW |
4 |
117,087,104 (GRCm39) |
missense |
probably damaging |
1.00 |
R9064:Armh1
|
UTSW |
4 |
117,094,855 (GRCm39) |
missense |
probably benign |
0.00 |
Z1088:Armh1
|
UTSW |
4 |
117,070,992 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- TTAGGTCTGTGGGAAGCACC -3'
(R):5'- TAAACAAGCTCAGTCGAGATGC -3'
Sequencing Primer
(F):5'- CCGCTGGGAAAGGTAAGACTG -3'
(R):5'- GCTCAGTCGAGATGCTCTTAAAGC -3'
|
Posted On |
2017-02-28 |