Incidental Mutation 'IGL01453:Armc1'
ID |
84685 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 # |
IGL01453
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
19185566-19217229 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 19198594 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 122
(N122S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000029125
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029125]
|
AlphaFold |
Q9D7A8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000029125
AA Change: N122S
PolyPhen 2
Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000029125 Gene: ENSMUSG00000027599 AA Change: N122S
Domain | Start | End | E-Value | Type |
Pfam:Arm
|
27 |
68 |
1.1e-6 |
PFAM |
SCOP:d1fvqa_
|
142 |
203 |
6e-10 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193065
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
G |
11: 9,353,834 (GRCm39) |
T3719A |
probably damaging |
Het |
Abcb5 |
A |
G |
12: 118,831,705 (GRCm39) |
S1216P |
probably damaging |
Het |
Abl1 |
A |
G |
2: 31,668,989 (GRCm39) |
T104A |
probably damaging |
Het |
Adgrg6 |
A |
T |
10: 14,296,202 (GRCm39) |
M1066K |
possibly damaging |
Het |
Fat1 |
C |
T |
8: 45,504,307 (GRCm39) |
T4600M |
probably damaging |
Het |
Hrh1 |
T |
A |
6: 114,458,123 (GRCm39) |
I468N |
probably damaging |
Het |
Krt34 |
A |
T |
11: 99,930,916 (GRCm39) |
L162Q |
probably damaging |
Het |
Macrod2 |
A |
T |
2: 140,294,492 (GRCm39) |
|
probably benign |
Het |
Mfsd9 |
C |
A |
1: 40,829,638 (GRCm39) |
|
probably benign |
Het |
Nap1l1 |
C |
T |
10: 111,328,839 (GRCm39) |
T256I |
probably benign |
Het |
Or12e1 |
A |
G |
2: 87,022,192 (GRCm39) |
I54V |
probably benign |
Het |
Or5h22 |
T |
C |
16: 58,895,132 (GRCm39) |
I104V |
probably benign |
Het |
Or6k4 |
A |
G |
1: 173,964,679 (GRCm39) |
Y123C |
possibly damaging |
Het |
Pard6a |
T |
A |
8: 106,429,309 (GRCm39) |
|
probably null |
Het |
Pmm2 |
G |
A |
16: 8,466,532 (GRCm39) |
R119Q |
probably damaging |
Het |
Por |
C |
T |
5: 135,763,040 (GRCm39) |
Q517* |
probably null |
Het |
Ppil6 |
T |
C |
10: 41,374,473 (GRCm39) |
I118T |
probably benign |
Het |
Psg26 |
A |
G |
7: 18,213,999 (GRCm39) |
V221A |
possibly damaging |
Het |
Ptpru |
C |
A |
4: 131,496,803 (GRCm39) |
|
probably benign |
Het |
Rpl27a |
T |
A |
7: 109,118,832 (GRCm39) |
V15E |
probably benign |
Het |
Setd1b |
T |
C |
5: 123,296,527 (GRCm39) |
|
probably benign |
Het |
Slc17a1 |
A |
G |
13: 24,058,714 (GRCm39) |
N56S |
probably damaging |
Het |
Sybu |
A |
T |
15: 44,536,201 (GRCm39) |
D508E |
probably damaging |
Het |
Tada2b |
A |
C |
5: 36,633,686 (GRCm39) |
N222K |
probably damaging |
Het |
Tbcb |
T |
C |
7: 29,930,627 (GRCm39) |
|
probably null |
Het |
Tmprss11f |
C |
A |
5: 86,692,691 (GRCm39) |
G78* |
probably null |
Het |
Vmn2r65 |
T |
C |
7: 84,589,708 (GRCm39) |
Y736C |
probably damaging |
Het |
Zc3h7a |
G |
A |
16: 10,967,242 (GRCm39) |
P517S |
probably benign |
Het |
Zfp280d |
A |
G |
9: 72,229,868 (GRCm39) |
T392A |
possibly damaging |
Het |
Zfp318 |
T |
A |
17: 46,719,942 (GRCm39) |
|
probably null |
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 |
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 |
|
R2969:Armc1
|
UTSW |
3 |
19,189,024 (GRCm39) |
missense |
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 |
|
Posted On |
2013-11-11 |