Incidental Mutation 'IGL01808:Amz1'
ID |
155749 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Amz1
|
Ensembl Gene |
ENSMUSG00000050022 |
Gene Name |
archaelysin family metallopeptidase 1 |
Synonyms |
6530401C20Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.052)
|
Stock # |
IGL01808
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
140709882-140739067 bp(+) (GRCm39) |
Type of Mutation |
utr 5 prime |
DNA Base Change (assembly) |
A to G
at 140727034 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113911
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060918]
[ENSMUST00000120630]
|
AlphaFold |
Q8BVF9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000060918
|
SMART Domains |
Protein: ENSMUSP00000053110 Gene: ENSMUSG00000050022
Domain | Start | End | E-Value | Type |
low complexity region
|
225 |
239 |
N/A |
INTRINSIC |
low complexity region
|
475 |
494 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000120630
|
SMART Domains |
Protein: ENSMUSP00000113911 Gene: ENSMUSG00000050022
Domain | Start | End | E-Value | Type |
low complexity region
|
225 |
239 |
N/A |
INTRINSIC |
low complexity region
|
475 |
494 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155644
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156006
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 24 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ager |
A |
T |
17: 34,818,431 (GRCm39) |
Q266L |
probably damaging |
Het |
Ebf2 |
C |
T |
14: 67,651,932 (GRCm39) |
A488V |
probably benign |
Het |
Gm5885 |
A |
T |
6: 133,508,181 (GRCm39) |
|
noncoding transcript |
Het |
Gnas |
T |
C |
2: 174,140,490 (GRCm39) |
S220P |
probably damaging |
Het |
Gpr171 |
G |
A |
3: 59,005,572 (GRCm39) |
P68S |
probably damaging |
Het |
H2ax |
T |
C |
9: 44,246,246 (GRCm39) |
I63T |
possibly damaging |
Het |
H2-M9 |
A |
T |
17: 36,952,711 (GRCm39) |
|
probably null |
Het |
Igsf9 |
T |
C |
1: 172,312,370 (GRCm39) |
V27A |
probably benign |
Het |
Kcnh6 |
G |
T |
11: 105,914,753 (GRCm39) |
|
probably benign |
Het |
Mapkbp1 |
A |
G |
2: 119,853,650 (GRCm39) |
|
probably null |
Het |
Mllt6 |
C |
A |
11: 97,563,310 (GRCm39) |
H298N |
possibly damaging |
Het |
Mtmr3 |
A |
G |
11: 4,447,404 (GRCm39) |
I352T |
probably damaging |
Het |
Mtrr |
T |
C |
13: 68,714,212 (GRCm39) |
D509G |
probably benign |
Het |
Ncan |
C |
T |
8: 70,560,090 (GRCm39) |
|
probably null |
Het |
Or51aa2 |
T |
A |
7: 103,187,781 (GRCm39) |
Y220F |
probably damaging |
Het |
Pcdhb4 |
T |
C |
18: 37,442,067 (GRCm39) |
V459A |
probably damaging |
Het |
Phrf1 |
C |
A |
7: 140,840,879 (GRCm39) |
P1274Q |
probably damaging |
Het |
Slc4a2 |
T |
C |
5: 24,645,205 (GRCm39) |
L1125P |
probably damaging |
Het |
Synpo |
T |
C |
18: 60,735,280 (GRCm39) |
I650V |
probably benign |
Het |
Tsc1 |
G |
A |
2: 28,552,519 (GRCm39) |
R86H |
probably damaging |
Het |
Ugt2a3 |
A |
G |
5: 87,473,414 (GRCm39) |
V501A |
probably benign |
Het |
Vmn1r203 |
T |
C |
13: 22,708,717 (GRCm39) |
I166T |
probably benign |
Het |
Vps13a |
A |
G |
19: 16,687,650 (GRCm39) |
C933R |
probably damaging |
Het |
Zfp142 |
A |
T |
1: 74,615,184 (GRCm39) |
F342Y |
probably damaging |
Het |
|
Other mutations in Amz1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02340:Amz1
|
APN |
5 |
140,738,014 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03389:Amz1
|
APN |
5 |
140,737,782 (GRCm39) |
missense |
probably benign |
|
PIT4131001:Amz1
|
UTSW |
5 |
140,735,088 (GRCm39) |
critical splice donor site |
probably null |
|
R1173:Amz1
|
UTSW |
5 |
140,737,691 (GRCm39) |
critical splice acceptor site |
probably null |
|
R1237:Amz1
|
UTSW |
5 |
140,727,039 (GRCm39) |
start codon destroyed |
probably damaging |
0.98 |
R1435:Amz1
|
UTSW |
5 |
140,733,921 (GRCm39) |
missense |
probably damaging |
1.00 |
R1909:Amz1
|
UTSW |
5 |
140,738,216 (GRCm39) |
missense |
probably benign |
0.30 |
R2019:Amz1
|
UTSW |
5 |
140,737,719 (GRCm39) |
missense |
probably benign |
0.00 |
R4094:Amz1
|
UTSW |
5 |
140,737,921 (GRCm39) |
missense |
probably damaging |
0.99 |
R4374:Amz1
|
UTSW |
5 |
140,738,194 (GRCm39) |
missense |
possibly damaging |
0.83 |
R5121:Amz1
|
UTSW |
5 |
140,729,919 (GRCm39) |
missense |
probably benign |
0.05 |
R5462:Amz1
|
UTSW |
5 |
140,733,976 (GRCm39) |
missense |
probably damaging |
1.00 |
R7339:Amz1
|
UTSW |
5 |
140,727,306 (GRCm39) |
missense |
probably benign |
0.01 |
R7475:Amz1
|
UTSW |
5 |
140,729,941 (GRCm39) |
critical splice donor site |
probably null |
|
R7915:Amz1
|
UTSW |
5 |
140,727,190 (GRCm39) |
missense |
probably benign |
|
R8416:Amz1
|
UTSW |
5 |
140,737,731 (GRCm39) |
nonsense |
probably null |
|
R8539:Amz1
|
UTSW |
5 |
140,734,412 (GRCm39) |
missense |
probably benign |
0.05 |
R8766:Amz1
|
UTSW |
5 |
140,733,921 (GRCm39) |
missense |
probably benign |
0.01 |
R9500:Amz1
|
UTSW |
5 |
140,737,975 (GRCm39) |
missense |
probably benign |
0.00 |
R9563:Amz1
|
UTSW |
5 |
140,738,133 (GRCm39) |
missense |
probably damaging |
1.00 |
R9707:Amz1
|
UTSW |
5 |
140,733,949 (GRCm39) |
missense |
possibly damaging |
0.63 |
Z1176:Amz1
|
UTSW |
5 |
140,729,828 (GRCm39) |
nonsense |
probably null |
|
|
Posted On |
2014-02-04 |