Incidental Mutation 'R4248:Armt1'
| ID |
320499 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Armt1
|
| Ensembl Gene |
ENSMUSG00000061759 |
| Gene Name |
acidic residue methyltransferase 1 |
| Synonyms |
1700052N19Rik |
| MMRRC Submission |
041064-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.148)
|
| Stock # |
R4248 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
4382572-4405140 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 4389687 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 115
(F115L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114073
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095893]
[ENSMUST00000117489]
[ENSMUST00000118544]
[ENSMUST00000152294]
|
| AlphaFold |
A6H630 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000095893
AA Change: F115L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000093581
Gene: ENSMUSG00000061759
AA Change: F115L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF89
|
20 |
417 |
1.3e-125 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117489
AA Change: F115L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000114025
Gene: ENSMUSG00000061759
AA Change: F115L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF89
|
20 |
136 |
7.2e-25 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118544
AA Change: F115L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000114073
Gene: ENSMUSG00000061759
AA Change: F115L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF89
|
20 |
187 |
1.2e-33 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131636
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134484
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143037
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152294
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (32/32) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700062C07Rik |
A |
G |
18: 24,606,013 (GRCm39) |
N36S |
possibly damaging |
Het |
| Alox12b |
G |
A |
11: 69,054,431 (GRCm39) |
V250I |
probably benign |
Het |
| Cdh9 |
T |
C |
15: 16,850,474 (GRCm39) |
F536L |
probably benign |
Het |
| Fbxo25 |
T |
C |
8: 13,989,617 (GRCm39) |
S355P |
probably damaging |
Het |
| Fhod3 |
A |
G |
18: 25,123,123 (GRCm39) |
K271R |
probably null |
Het |
| Gapt |
C |
A |
13: 110,490,289 (GRCm39) |
V125F |
probably damaging |
Het |
| Gucd1 |
A |
T |
10: 75,345,662 (GRCm39) |
V131E |
probably damaging |
Het |
| Hecw2 |
C |
T |
1: 53,871,804 (GRCm39) |
V1381M |
probably damaging |
Het |
| Hivep2 |
A |
G |
10: 14,007,299 (GRCm39) |
E1299G |
probably damaging |
Het |
| Hnf4g |
A |
G |
3: 3,717,909 (GRCm39) |
D342G |
possibly damaging |
Het |
| Kmt2b |
C |
T |
7: 30,273,489 (GRCm39) |
R2349H |
probably benign |
Het |
| Lama5 |
C |
T |
2: 179,822,220 (GRCm39) |
R2896Q |
possibly damaging |
Het |
| Moxd2 |
A |
C |
6: 40,855,933 (GRCm39) |
I552S |
probably damaging |
Het |
| Nkx1-2 |
TGGTGAGAGGGGGCCGCCTTGGCCCCG |
TG |
7: 132,201,209 (GRCm39) |
|
probably null |
Het |
| Onecut3 |
A |
G |
10: 80,349,963 (GRCm39) |
T486A |
possibly damaging |
Het |
| Or8g36 |
A |
G |
9: 39,422,899 (GRCm39) |
V39A |
probably benign |
Het |
| Pik3cb |
T |
C |
9: 98,983,229 (GRCm39) |
|
probably null |
Het |
| Pirb |
A |
G |
7: 3,722,297 (GRCm39) |
F182S |
probably damaging |
Het |
| Rev1 |
C |
T |
1: 38,146,729 (GRCm39) |
R34H |
possibly damaging |
Het |
| Satl1 |
A |
G |
X: 111,316,033 (GRCm39) |
S141P |
probably benign |
Het |
| Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
| Snx8 |
A |
G |
5: 140,341,800 (GRCm39) |
L121P |
probably damaging |
Het |
| Tep1 |
T |
C |
14: 51,100,351 (GRCm39) |
H389R |
possibly damaging |
Het |
| Tnfrsf1b |
G |
A |
4: 144,942,535 (GRCm39) |
A416V |
probably benign |
Het |
| Ust |
A |
T |
10: 8,393,982 (GRCm39) |
L61Q |
possibly damaging |
Het |
| Vmn2r101 |
A |
T |
17: 19,809,376 (GRCm39) |
K168N |
probably damaging |
Het |
|
| Other mutations in Armt1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00907:Armt1
|
APN |
10 |
4,454,051 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
IGL01018:Armt1
|
APN |
10 |
4,404,237 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01018:Armt1
|
APN |
10 |
4,400,732 (GRCm39) |
missense |
probably benign |
|
|
IGL02198:Armt1
|
APN |
10 |
4,404,064 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02980:Armt1
|
APN |
10 |
4,400,643 (GRCm39) |
splice site |
probably benign |
|
|
IGL03104:Armt1
|
APN |
10 |
4,389,615 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0620:Armt1
|
UTSW |
10 |
4,382,689 (GRCm39) |
missense |
probably benign |
0.38 |
|
R5709:Armt1
|
UTSW |
10 |
4,384,903 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6058:Armt1
|
UTSW |
10 |
4,403,488 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6318:Armt1
|
UTSW |
10 |
4,400,859 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6410:Armt1
|
UTSW |
10 |
4,403,826 (GRCm39) |
missense |
probably benign |
|
|
R6998:Armt1
|
UTSW |
10 |
4,403,937 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7242:Armt1
|
UTSW |
10 |
4,403,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7268:Armt1
|
UTSW |
10 |
4,400,855 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R7432:Armt1
|
UTSW |
10 |
4,382,706 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7640:Armt1
|
UTSW |
10 |
4,403,572 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7715:Armt1
|
UTSW |
10 |
4,400,751 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8877:Armt1
|
UTSW |
10 |
4,400,864 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R8968:Armt1
|
UTSW |
10 |
4,404,150 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8973:Armt1
|
UTSW |
10 |
4,389,550 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9096:Armt1
|
UTSW |
10 |
4,384,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9404:Armt1
|
UTSW |
10 |
4,400,848 (GRCm39) |
frame shift |
probably null |
|
|
R9405:Armt1
|
UTSW |
10 |
4,400,848 (GRCm39) |
frame shift |
probably null |
|
|
R9408:Armt1
|
UTSW |
10 |
4,400,848 (GRCm39) |
frame shift |
probably null |
|
|
R9563:Armt1
|
UTSW |
10 |
4,400,848 (GRCm39) |
frame shift |
probably null |
|
|
R9785:Armt1
|
UTSW |
10 |
4,389,606 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATTGAAGCTGAAAAGAAAGCCATCTC -3'
(R):5'- CATTCAGTCATTTGTGGAAATGTCC -3'
Sequencing Primer
(F):5'- GCTGAAAAGAAAGCCATCTCTCTTC -3'
(R):5'- AGGACAACTTTGGGGATTCC -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation