Incidental Mutation 'R5462:Amz1'
| ID |
433065 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Amz1
|
| Ensembl Gene |
ENSMUSG00000050022 |
| Gene Name |
archaelysin family metallopeptidase 1 |
| Synonyms |
6530401C20Rik |
| MMRRC Submission |
043024-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R5462 (G1)
|
| Quality Score |
171 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
140709882-140739067 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 140733976 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 184
(Y184C)
|
| 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: Y184C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000053110
Gene: ENSMUSG00000050022
AA Change: Y184C
| 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: Y184C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113911
Gene: ENSMUSG00000050022
AA Change: Y184C
| 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 |
probably benign
Transcript: ENSMUST00000176035
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
G |
A |
16: 4,682,227 (GRCm39) |
G180E |
probably damaging |
Het |
| 4933412E24Rik |
A |
G |
15: 59,886,917 (GRCm39) |
F508L |
probably benign |
Het |
| Acyp2 |
C |
T |
11: 30,456,354 (GRCm39) |
E98K |
possibly damaging |
Het |
| Calm3 |
A |
T |
7: 16,651,619 (GRCm39) |
D23E |
possibly damaging |
Het |
| Cep112 |
T |
A |
11: 108,409,570 (GRCm39) |
N479K |
probably damaging |
Het |
| Cfap251 |
T |
C |
5: 123,436,695 (GRCm39) |
|
probably null |
Het |
| Csmd1 |
A |
C |
8: 16,011,486 (GRCm39) |
N2522K |
probably benign |
Het |
| Dhx30 |
A |
G |
9: 109,930,042 (GRCm39) |
L18P |
probably damaging |
Het |
| E2f2 |
A |
T |
4: 135,900,224 (GRCm39) |
T45S |
probably benign |
Het |
| Grk3 |
T |
C |
5: 113,117,074 (GRCm39) |
Y67C |
probably damaging |
Het |
| Htt |
T |
A |
5: 35,042,851 (GRCm39) |
C2290* |
probably null |
Het |
| Igsf10 |
T |
C |
3: 59,233,175 (GRCm39) |
T1853A |
probably damaging |
Het |
| Kmt2d |
G |
A |
15: 98,749,990 (GRCm39) |
|
probably benign |
Het |
| Mast2 |
A |
G |
4: 116,164,655 (GRCm39) |
L1587P |
probably damaging |
Het |
| Mdn1 |
A |
G |
4: 32,720,897 (GRCm39) |
N2337D |
probably benign |
Het |
| Mettl3 |
T |
C |
14: 52,537,336 (GRCm39) |
Q182R |
probably damaging |
Het |
| Mterf1b |
A |
G |
5: 4,246,541 (GRCm39) |
S61G |
probably benign |
Het |
| Mycbp2 |
T |
C |
14: 103,437,562 (GRCm39) |
Y2100C |
probably damaging |
Het |
| Nt5m |
T |
A |
11: 59,765,385 (GRCm39) |
W138R |
probably damaging |
Het |
| Or5g29 |
A |
G |
2: 85,421,640 (GRCm39) |
Y252C |
probably damaging |
Het |
| Prex1 |
A |
G |
2: 166,486,728 (GRCm39) |
Y114H |
probably benign |
Het |
| Rasa2 |
A |
T |
9: 96,453,971 (GRCm39) |
S322T |
probably damaging |
Het |
| Sis |
A |
T |
3: 72,857,171 (GRCm39) |
D373E |
probably damaging |
Het |
| Snx29 |
A |
T |
16: 11,328,876 (GRCm39) |
M552L |
possibly damaging |
Het |
| Sptbn1 |
G |
T |
11: 30,050,520 (GRCm39) |
F2356L |
possibly damaging |
Het |
| Tbc1d10c |
G |
T |
19: 4,238,052 (GRCm39) |
Q241K |
probably benign |
Het |
| Vmn1r222 |
A |
G |
13: 23,417,045 (GRCm39) |
I56T |
probably benign |
Het |
| Vmn2r111 |
T |
C |
17: 22,767,238 (GRCm39) |
Y753C |
probably damaging |
Het |
| Vmn2r37 |
A |
G |
7: 9,220,973 (GRCm39) |
W297R |
probably damaging |
Het |
| Zbtb47 |
G |
T |
9: 121,596,729 (GRCm39) |
R695L |
probably damaging |
Het |
| Zfp267 |
C |
T |
3: 36,219,969 (GRCm39) |
T664I |
possibly damaging |
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 |
|
|
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 |
|
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'- AGATGTGGCTTGCTGCATC -3'
(R):5'- CCCGTGAGAACATAGCCTCAAG -3'
Sequencing Primer
(F):5'- CTGCATCCAGCTTTGAGAGG -3'
(R):5'- GCCTCAAGCTTGTGCACAC -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation