Incidental Mutation 'IGL00907:Armt1'
| ID |
28311 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Armt1
|
| Ensembl Gene |
ENSMUSG00000061759 |
| Gene Name |
acidic residue methyltransferase 1 |
| Synonyms |
1700052N19Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.148)
|
| Stock # |
IGL00907
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
4382572-4405140 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 4454051 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Valine
at position 379
(F379V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093581
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095893]
[ENSMUST00000118544]
[ENSMUST00000152294]
|
| AlphaFold |
A6H630 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000095893
AA Change: F379V
PolyPhen 2
Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000093581
Gene: ENSMUSG00000061759
AA Change: F379V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF89
|
20 |
417 |
1.3e-125 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118544
|
| SMART Domains |
Protein: ENSMUSP00000114073
Gene: ENSMUSG00000061759
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF89
|
20 |
187 |
1.2e-33 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143037
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152294
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp8b1 |
T |
C |
18: 64,694,776 (GRCm39) |
D502G |
possibly damaging |
Het |
| Brwd3 |
A |
G |
X: 107,827,852 (GRCm39) |
|
probably benign |
Het |
| Ccdc171 |
T |
A |
4: 83,782,486 (GRCm39) |
H1259Q |
probably damaging |
Het |
| Chd7 |
T |
C |
4: 8,840,435 (GRCm39) |
I1401T |
probably damaging |
Het |
| Csf1 |
T |
C |
3: 107,657,662 (GRCm39) |
N76S |
probably damaging |
Het |
| Dld |
A |
G |
12: 31,382,329 (GRCm39) |
|
probably benign |
Het |
| Eif5 |
T |
A |
12: 111,506,989 (GRCm39) |
I141N |
probably damaging |
Het |
| Etl4 |
G |
A |
2: 20,771,289 (GRCm39) |
G674D |
possibly damaging |
Het |
| Fam234a |
G |
A |
17: 26,432,500 (GRCm39) |
R550W |
probably damaging |
Het |
| Hipk2 |
A |
G |
6: 38,795,208 (GRCm39) |
S347P |
probably damaging |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Hsd17b2 |
A |
T |
8: 118,461,433 (GRCm39) |
I157L |
probably benign |
Het |
| Ibtk |
A |
G |
9: 85,572,384 (GRCm39) |
S1269P |
possibly damaging |
Het |
| Igsf3 |
T |
C |
3: 101,334,764 (GRCm39) |
|
probably benign |
Het |
| Kin |
G |
A |
2: 10,085,515 (GRCm39) |
R25H |
probably damaging |
Het |
| Kin |
T |
C |
2: 10,085,517 (GRCm39) |
W26R |
probably damaging |
Het |
| Kir3dl1 |
G |
A |
X: 135,425,911 (GRCm39) |
C95Y |
probably damaging |
Het |
| Lamc2 |
A |
G |
1: 153,020,397 (GRCm39) |
V383A |
probably benign |
Het |
| Mael |
A |
G |
1: 166,032,418 (GRCm39) |
Y314H |
probably damaging |
Het |
| Npat |
T |
C |
9: 53,474,590 (GRCm39) |
V794A |
possibly damaging |
Het |
| Nr4a2 |
T |
A |
2: 56,999,229 (GRCm39) |
I340F |
probably damaging |
Het |
| Or4c103 |
A |
G |
2: 88,513,638 (GRCm39) |
V146A |
probably benign |
Het |
| Or5p56 |
A |
T |
7: 107,590,097 (GRCm39) |
D175V |
probably damaging |
Het |
| Or7g21 |
T |
A |
9: 19,032,528 (GRCm39) |
D89E |
possibly damaging |
Het |
| Pdcd11 |
T |
C |
19: 47,096,003 (GRCm39) |
V641A |
probably benign |
Het |
| Phf24 |
C |
T |
4: 42,938,667 (GRCm39) |
T264I |
probably benign |
Het |
| Sars2 |
G |
T |
7: 28,452,848 (GRCm39) |
|
probably benign |
Het |
| Scn1a |
A |
C |
2: 66,158,141 (GRCm39) |
S411A |
probably damaging |
Het |
| Srsf5 |
T |
C |
12: 80,994,608 (GRCm39) |
V112A |
probably damaging |
Het |
| Susd2 |
T |
C |
10: 75,476,765 (GRCm39) |
N206S |
probably benign |
Het |
| Thrap3 |
C |
T |
4: 126,059,371 (GRCm39) |
G892S |
probably benign |
Het |
| Ttc32 |
T |
A |
12: 9,084,953 (GRCm39) |
Y58N |
probably damaging |
Het |
|
| Other mutations in Armt1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R4248:Armt1
|
UTSW |
10 |
4,389,687 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
| Posted On |
2013-04-17 |
Incidental Mutation