Incidental Mutation 'IGL03389:Amz1'
ID |
420999 |
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 # |
IGL03389
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
140709882-140739067 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 140737782 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 347
(F347L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113911
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060918]
[ENSMUST00000120630]
|
AlphaFold |
Q8BVF9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000060918
AA Change: F347L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000053110 Gene: ENSMUSG00000050022 AA Change: F347L
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
AA Change: F347L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000113911 Gene: ENSMUSG00000050022 AA Change: F347L
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 |
unknown
Transcript: ENSMUST00000176035
AA Change: F46L
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aff3 |
A |
T |
1: 38,249,430 (GRCm39) |
V559E |
possibly damaging |
Het |
Alpk2 |
G |
T |
18: 65,437,937 (GRCm39) |
P1619Q |
possibly damaging |
Het |
Ank1 |
T |
C |
8: 23,578,076 (GRCm39) |
|
probably null |
Het |
Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
Cdc16 |
A |
G |
8: 13,809,179 (GRCm39) |
Y48C |
probably damaging |
Het |
Cfap91 |
C |
T |
16: 38,144,498 (GRCm39) |
|
probably null |
Het |
Cul2 |
A |
G |
18: 3,431,029 (GRCm39) |
D538G |
probably benign |
Het |
Cyp2j13 |
T |
A |
4: 95,956,558 (GRCm39) |
I184F |
probably damaging |
Het |
Cyp4a12b |
A |
T |
4: 115,291,005 (GRCm39) |
R344S |
possibly damaging |
Het |
Dis3 |
A |
G |
14: 99,332,783 (GRCm39) |
|
probably benign |
Het |
Dnah17 |
T |
C |
11: 117,985,805 (GRCm39) |
H1424R |
probably damaging |
Het |
Eef2 |
A |
G |
10: 81,015,540 (GRCm39) |
I354V |
probably benign |
Het |
Elmo1 |
A |
G |
13: 20,526,596 (GRCm39) |
D382G |
probably damaging |
Het |
Epas1 |
T |
A |
17: 87,131,131 (GRCm39) |
S304T |
probably benign |
Het |
Fry |
A |
T |
5: 150,317,696 (GRCm39) |
D892V |
probably damaging |
Het |
Gprc5a |
G |
T |
6: 135,060,823 (GRCm39) |
D355Y |
possibly damaging |
Het |
Hsd17b7 |
G |
A |
1: 169,787,320 (GRCm39) |
T228I |
probably damaging |
Het |
Ift74 |
T |
C |
4: 94,510,149 (GRCm39) |
V60A |
possibly damaging |
Het |
Insrr |
A |
T |
3: 87,716,038 (GRCm39) |
I578F |
probably damaging |
Het |
Izumo1 |
T |
C |
7: 45,273,613 (GRCm39) |
F122S |
probably damaging |
Het |
Lss |
G |
A |
10: 76,372,173 (GRCm39) |
R176H |
probably damaging |
Het |
Ltb |
T |
C |
17: 35,414,044 (GRCm39) |
S61P |
probably benign |
Het |
Mybphl |
T |
C |
3: 108,283,034 (GRCm39) |
V274A |
probably benign |
Het |
Myo9a |
T |
G |
9: 59,776,890 (GRCm39) |
L1096W |
probably damaging |
Het |
Nlrc5 |
T |
A |
8: 95,248,102 (GRCm39) |
L1690H |
probably damaging |
Het |
Nrap |
A |
T |
19: 56,340,148 (GRCm39) |
S790T |
probably benign |
Het |
Nrcam |
A |
G |
12: 44,596,689 (GRCm39) |
D308G |
probably benign |
Het |
Or10a3 |
G |
A |
7: 108,479,982 (GRCm39) |
T277M |
probably damaging |
Het |
Or1j17 |
A |
G |
2: 36,578,274 (GRCm39) |
T87A |
probably benign |
Het |
Pias2 |
A |
G |
18: 77,185,354 (GRCm39) |
D138G |
probably damaging |
Het |
Prpf4b |
T |
C |
13: 35,084,439 (GRCm39) |
|
probably benign |
Het |
Rapgef3 |
A |
G |
15: 97,647,397 (GRCm39) |
S788P |
probably damaging |
Het |
Slc5a6 |
T |
C |
5: 31,194,821 (GRCm39) |
Y525C |
probably damaging |
Het |
Snx32 |
T |
C |
19: 5,546,082 (GRCm39) |
|
probably benign |
Het |
Tnfaip3 |
T |
C |
10: 18,880,735 (GRCm39) |
E444G |
probably benign |
Het |
Ttc27 |
T |
C |
17: 75,165,028 (GRCm39) |
Y745H |
probably benign |
Het |
|
Other mutations in Amz1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01808:Amz1
|
APN |
5 |
140,727,034 (GRCm39) |
utr 5 prime |
probably benign |
|
IGL02340:Amz1
|
APN |
5 |
140,738,014 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
2016-08-02 |