Incidental Mutation 'R2969:Armc1'
| ID |
256051 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Armc1
|
| Ensembl Gene |
ENSMUSG00000027599 |
| Gene Name |
armadillo repeat containing 1 |
| Synonyms |
Arcp, 2310016N05Rik, 2900046P06Rik, C330014L16Rik, 3110009G21Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.178)
|
| Stock # |
R2969 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
19185566-19217229 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 19189024 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 214
(S214G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029125
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029125]
|
| AlphaFold |
Q9D7A8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029125
AA Change: S214G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000029125
Gene: ENSMUSG00000027599
AA Change: S214G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Arm
|
27 |
68 |
1.1e-6 |
PFAM |
|
SCOP:d1fvqa_
|
142 |
203 |
6e-10 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank3 |
A |
G |
10: 69,830,225 (GRCm39) |
T137A |
probably damaging |
Het |
| Antxr2 |
A |
T |
5: 98,178,275 (GRCm39) |
L45* |
probably null |
Het |
| Arsj |
T |
C |
3: 126,233,021 (GRCm39) |
I589T |
probably benign |
Het |
| C8a |
A |
G |
4: 104,710,974 (GRCm39) |
S230P |
probably damaging |
Het |
| Cnga3 |
A |
G |
1: 37,300,159 (GRCm39) |
Y331C |
probably damaging |
Het |
| Gm21976 |
A |
G |
13: 98,423,790 (GRCm39) |
Y33C |
unknown |
Het |
| Gpat4 |
G |
A |
8: 23,670,171 (GRCm39) |
P286L |
probably damaging |
Het |
| Gtf2i |
A |
G |
5: 134,280,746 (GRCm39) |
V556A |
probably damaging |
Het |
| Ighv8-12 |
C |
T |
12: 115,611,570 (GRCm39) |
R118Q |
probably benign |
Het |
| Ing4 |
A |
G |
6: 125,024,288 (GRCm39) |
K131E |
probably benign |
Het |
| Mrgprb5 |
T |
A |
7: 47,818,317 (GRCm39) |
R139S |
probably damaging |
Het |
| Nap1l2 |
A |
T |
X: 102,229,254 (GRCm39) |
D221E |
probably benign |
Het |
| Nepn |
A |
T |
10: 52,276,983 (GRCm39) |
R179* |
probably null |
Het |
| Nrxn3 |
G |
A |
12: 89,321,241 (GRCm39) |
C383Y |
probably damaging |
Het |
| Pfpl |
G |
T |
19: 12,406,907 (GRCm39) |
R386L |
probably benign |
Het |
| Rere |
A |
G |
4: 150,654,673 (GRCm39) |
K402E |
unknown |
Het |
| Serpina3n |
C |
T |
12: 104,375,333 (GRCm39) |
T135M |
probably benign |
Het |
| Slc43a1 |
C |
T |
2: 84,687,679 (GRCm39) |
T395I |
probably damaging |
Het |
| Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
| Vipas39 |
T |
C |
12: 87,289,345 (GRCm39) |
N373S |
probably benign |
Het |
| Vmn1r128 |
T |
A |
7: 21,084,046 (GRCm39) |
V250D |
probably damaging |
Het |
|
| Other mutations in Armc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00837:Armc1
|
APN |
3 |
19,198,584 (GRCm39) |
missense |
probably benign |
0.21 |
|
IGL01453:Armc1
|
APN |
3 |
19,198,594 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02012:Armc1
|
APN |
3 |
19,211,701 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
IGL02586:Armc1
|
APN |
3 |
19,188,192 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R0512:Armc1
|
UTSW |
3 |
19,203,659 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1694:Armc1
|
UTSW |
3 |
19,189,050 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1878:Armc1
|
UTSW |
3 |
19,211,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1881:Armc1
|
UTSW |
3 |
19,189,060 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R2191:Armc1
|
UTSW |
3 |
19,188,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2264:Armc1
|
UTSW |
3 |
19,189,033 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2403:Armc1
|
UTSW |
3 |
19,211,840 (GRCm39) |
start gained |
probably benign |
|
|
R3861:Armc1
|
UTSW |
3 |
19,189,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4296:Armc1
|
UTSW |
3 |
19,203,680 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6753:Armc1
|
UTSW |
3 |
19,198,562 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6891:Armc1
|
UTSW |
3 |
19,189,205 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7837:Armc1
|
UTSW |
3 |
19,198,633 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8373:Armc1
|
UTSW |
3 |
19,203,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8743:Armc1
|
UTSW |
3 |
19,211,700 (GRCm39) |
missense |
probably benign |
0.19 |
|
Z1088:Armc1
|
UTSW |
3 |
19,203,671 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Armc1
|
UTSW |
3 |
19,203,738 (GRCm39) |
missense |
probably benign |
0.08 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGTTCGCCTTACAAGAGCACC -3'
(R):5'- CTGTTCAAAGATGCGTGGTG -3'
Sequencing Primer
(F):5'- TTACAAGAGCACCCTGAACTTCAG -3'
(R):5'- GCGGATCCGTTCAGACTTGAAG -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation