Incidental Mutation 'R1237:Amz1'
ID |
152456 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Amz1
|
Ensembl Gene |
ENSMUSG00000050022 |
Gene Name |
archaelysin family metallopeptidase 1 |
Synonyms |
6530401C20Rik |
MMRRC Submission |
039304-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.058)
|
Stock # |
R1237 (G1)
|
Quality Score |
197 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
140709882-140739067 bp(+) (GRCm39) |
Type of Mutation |
start codon destroyed |
DNA Base Change (assembly) |
A to T
at 140727039 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Leucine
at position 1
(M1L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113911
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060918]
[ENSMUST00000120630]
|
AlphaFold |
Q8BVF9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000060918
AA Change: M1L
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000053110 Gene: ENSMUSG00000050022 AA Change: M1L
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 damaging
Transcript: ENSMUST00000120630
AA Change: M1L
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000113911 Gene: ENSMUSG00000050022 AA Change: M1L
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
|
Meta Mutation Damage Score |
0.8616 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.8%
|
Validation Efficiency |
98% (40/41) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg3 |
T |
C |
5: 105,096,223 (GRCm39) |
T500A |
probably damaging |
Het |
Angptl1 |
T |
A |
1: 156,686,154 (GRCm39) |
N413K |
probably damaging |
Het |
Ankrd13b |
T |
C |
11: 77,365,400 (GRCm39) |
T70A |
probably damaging |
Het |
Cacna1c |
C |
T |
6: 118,589,586 (GRCm39) |
R1446H |
probably damaging |
Het |
Ccdc174 |
C |
T |
6: 91,867,768 (GRCm39) |
|
probably benign |
Het |
Ccnc |
T |
A |
4: 21,730,457 (GRCm39) |
F31L |
probably benign |
Het |
Celsr1 |
A |
C |
15: 85,788,175 (GRCm39) |
S2692R |
probably benign |
Het |
Chd1l |
C |
T |
3: 97,490,047 (GRCm39) |
E503K |
probably benign |
Het |
Ddhd1 |
A |
T |
14: 45,839,107 (GRCm39) |
D65E |
probably benign |
Het |
Dync1h1 |
A |
G |
12: 110,632,393 (GRCm39) |
N4504S |
probably benign |
Het |
Enthd1 |
A |
G |
15: 80,418,799 (GRCm39) |
S167P |
probably damaging |
Het |
Fat1 |
A |
T |
8: 45,497,316 (GRCm39) |
Y4267F |
probably damaging |
Het |
Hectd4 |
C |
T |
5: 121,459,570 (GRCm39) |
A813V |
possibly damaging |
Het |
Ibtk |
T |
C |
9: 85,602,801 (GRCm39) |
S735G |
probably benign |
Het |
Itga4 |
A |
G |
2: 79,109,490 (GRCm39) |
I230V |
probably null |
Het |
Kcnh8 |
A |
T |
17: 53,200,988 (GRCm39) |
Q474L |
probably damaging |
Het |
Kcnh8 |
G |
T |
17: 53,200,989 (GRCm39) |
Q474H |
probably damaging |
Het |
Mib1 |
C |
T |
18: 10,768,149 (GRCm39) |
T466I |
probably damaging |
Het |
Or12d12 |
T |
A |
17: 37,611,156 (GRCm39) |
R52S |
probably benign |
Het |
Or2ad1 |
C |
T |
13: 21,326,337 (GRCm39) |
V297I |
probably benign |
Het |
Or2l5 |
A |
C |
16: 19,334,375 (GRCm39) |
Y4D |
probably benign |
Het |
Parp14 |
G |
A |
16: 35,677,130 (GRCm39) |
A946V |
probably benign |
Het |
Prdx6b |
A |
G |
2: 80,123,520 (GRCm39) |
I110V |
probably benign |
Het |
Prf1 |
A |
C |
10: 61,139,428 (GRCm39) |
D462A |
probably benign |
Het |
Rps6ka5 |
T |
C |
12: 100,541,964 (GRCm39) |
D391G |
possibly damaging |
Het |
Scn7a |
A |
T |
2: 66,510,639 (GRCm39) |
N1254K |
probably damaging |
Het |
Skor2 |
A |
T |
18: 76,963,827 (GRCm39) |
K924* |
probably null |
Het |
Slc22a21 |
A |
G |
11: 53,870,598 (GRCm39) |
I29T |
probably benign |
Het |
Tas2r140 |
T |
C |
6: 133,032,171 (GRCm39) |
T196A |
probably benign |
Het |
Thrap3 |
A |
G |
4: 126,073,862 (GRCm39) |
S295P |
probably benign |
Het |
Trim43a |
GATTTATTTATTTATTTATTTATTTATTTATTTATTTATT |
GATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATT |
9: 88,465,042 (GRCm39) |
|
probably benign |
Het |
Ubtd2 |
C |
T |
11: 32,466,125 (GRCm39) |
R115W |
probably damaging |
Het |
Unc93b1 |
A |
G |
19: 3,985,228 (GRCm39) |
E12G |
possibly damaging |
Het |
Vgll3 |
T |
A |
16: 65,636,459 (GRCm39) |
Y203* |
probably null |
Het |
Vmn1r212 |
G |
A |
13: 23,067,638 (GRCm39) |
Q232* |
probably null |
Het |
Vmn2r107 |
T |
A |
17: 20,576,947 (GRCm39) |
L315* |
probably null |
Het |
Vmn2r84 |
T |
A |
10: 130,223,725 (GRCm39) |
|
probably null |
Het |
Washc5 |
A |
G |
15: 59,210,757 (GRCm39) |
|
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 |
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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- GCAGAATTAAGCCTCGTGGTCTCTC -3'
(R):5'- GCATGGAAGGTCTCGAAATCCTCAG -3'
Sequencing Primer
(F):5'- GTGGTCTCTCAGTCCAGC -3'
(R):5'- GCTCAGGAGCCAGTCATAG -3'
|
Posted On |
2014-01-29 |