Incidental Mutation 'R7630:Armh1'
| ID |
589586 |
| 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 |
045691-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.094)
|
| Stock # |
R7630 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
117070531-117109322 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 117070938 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 396
(A396S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128613
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077500]
[ENSMUST00000165128]
|
| AlphaFold |
E9Q963 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000077500
|
| SMART Domains |
Protein: ENSMUSP00000076706
Gene: ENSMUSG00000060268
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1qbkb_
|
156 |
272 |
3e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165128
AA Change: A396S
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000128613
Gene: ENSMUSG00000060268
AA Change: A396S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
162 |
176 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0602 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
93% (40/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A530084C06Rik |
G |
T |
13: 31,742,978 (GRCm39) |
R92S |
unknown |
Het |
| Agbl1 |
A |
T |
7: 76,535,904 (GRCm39) |
I1019F |
unknown |
Het |
| Arhgap15 |
A |
G |
2: 43,670,648 (GRCm39) |
T11A |
probably benign |
Het |
| Atg2b |
T |
C |
12: 105,613,213 (GRCm39) |
|
probably null |
Het |
| Aup1 |
C |
A |
6: 83,031,904 (GRCm39) |
D50E |
unknown |
Het |
| Ccl25 |
A |
G |
8: 4,403,955 (GRCm39) |
Y49C |
probably damaging |
Het |
| Cnga3 |
A |
G |
1: 37,297,127 (GRCm39) |
D148G |
probably damaging |
Het |
| Cpeb3 |
A |
T |
19: 37,031,693 (GRCm39) |
F570I |
probably damaging |
Het |
| Cyp3a16 |
T |
A |
5: 145,373,120 (GRCm39) |
|
probably null |
Het |
| Eif2d |
C |
T |
1: 131,082,103 (GRCm39) |
T65M |
probably benign |
Het |
| Fryl |
T |
C |
5: 73,267,588 (GRCm39) |
I426V |
possibly damaging |
Het |
| Hgf |
T |
C |
5: 16,803,248 (GRCm39) |
S387P |
probably benign |
Het |
| Hyal6 |
T |
C |
6: 24,734,583 (GRCm39) |
V172A |
probably damaging |
Het |
| Il10ra |
T |
C |
9: 45,167,369 (GRCm39) |
D396G |
probably damaging |
Het |
| Kif26a |
A |
G |
12: 112,142,131 (GRCm39) |
D795G |
probably damaging |
Het |
| Lrrc8c |
T |
A |
5: 105,755,568 (GRCm39) |
S448T |
probably damaging |
Het |
| Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
| Notch2 |
A |
G |
3: 98,044,824 (GRCm39) |
D1582G |
possibly damaging |
Het |
| Or14c42-ps1 |
T |
C |
7: 86,211,680 (GRCm39) |
S247P |
probably damaging |
Het |
| Or1l4b |
A |
C |
2: 37,036,371 (GRCm39) |
D49A |
probably damaging |
Het |
| Osmr |
T |
C |
15: 6,846,452 (GRCm39) |
I741V |
possibly damaging |
Het |
| Plec |
C |
T |
15: 76,074,816 (GRCm39) |
|
probably null |
Het |
| Prkag3 |
A |
G |
1: 74,783,894 (GRCm39) |
F330L |
probably damaging |
Het |
| Prkn |
A |
G |
17: 11,456,455 (GRCm39) |
E93G |
probably benign |
Het |
| Rexo4 |
A |
T |
2: 26,850,622 (GRCm39) |
F247I |
probably damaging |
Het |
| Rph3a |
T |
C |
5: 121,081,113 (GRCm39) |
D628G |
probably damaging |
Het |
| Rsf1 |
GGCG |
GGCGACGGCCGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
| Rxylt1 |
T |
C |
10: 121,931,865 (GRCm39) |
I103V |
possibly damaging |
Het |
| Scnn1g |
T |
C |
7: 121,359,704 (GRCm39) |
S396P |
probably damaging |
Het |
| Slc1a5 |
G |
A |
7: 16,529,732 (GRCm39) |
V384M |
probably damaging |
Het |
| Sltm |
C |
G |
9: 70,493,955 (GRCm39) |
P802R |
possibly damaging |
Het |
| Smc4 |
CTA |
CTATA |
3: 68,925,400 (GRCm39) |
|
probably benign |
Het |
| Synpo2 |
A |
G |
3: 122,873,681 (GRCm39) |
V1154A |
probably damaging |
Het |
| Tanc2 |
T |
C |
11: 105,667,734 (GRCm39) |
V105A |
probably benign |
Het |
| Tapbp |
T |
C |
17: 34,139,318 (GRCm39) |
S105P |
probably benign |
Het |
| Tmem79 |
T |
C |
3: 88,240,768 (GRCm39) |
E60G |
possibly damaging |
Het |
| Txnrd2 |
A |
G |
16: 18,257,140 (GRCm39) |
D152G |
possibly damaging |
Het |
| Vcl |
T |
A |
14: 21,033,470 (GRCm39) |
L142* |
probably null |
Het |
| Vmn2r58 |
T |
C |
7: 41,513,611 (GRCm39) |
Y344C |
probably damaging |
Het |
| Vmn2r-ps117 |
A |
G |
17: 19,044,909 (GRCm39) |
D442G |
probably benign |
Het |
| Xpo6 |
A |
T |
7: 125,739,561 (GRCm39) |
|
probably null |
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 |
|
R5939:Armh1
|
UTSW |
4 |
117,087,119 (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 |
|
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'- CTCTGATTCATATCATTGGAGCCC -3'
(R):5'- TCTGCTCGAGGTAACCCTTC -3'
Sequencing Primer
(F):5'- CATATCATTGGAGCCCGTGGAG -3'
(R):5'- GAGGTAACCCTTCCTCCCTAG -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation