Incidental Mutation 'R4374:Amz1'
| ID |
325026 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Amz1
|
| Ensembl Gene |
ENSMUSG00000050022 |
| Gene Name |
archaelysin family metallopeptidase 1 |
| Synonyms |
6530401C20Rik |
| MMRRC Submission |
041118-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
R4374 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
140709882-140739067 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 140738194 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 184
(S184P)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060918]
[ENSMUST00000120630]
|
| AlphaFold |
Q8BVF9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000060918
AA Change: S485P
PolyPhen 2
Score 0.600 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000053110
Gene: ENSMUSG00000050022
AA Change: S485P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
225 |
239 |
N/A |
INTRINSIC |
|
low complexity region
|
475 |
494 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000120630
AA Change: S485P
PolyPhen 2
Score 0.600 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000113911
Gene: ENSMUSG00000050022
AA Change: S485P
| 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 |
possibly damaging
Transcript: ENSMUST00000176035
AA Change: S184P
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
97% (38/39) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd2 |
A |
G |
7: 78,973,278 (GRCm39) |
M86V |
probably benign |
Het |
| Acin1 |
C |
A |
14: 54,891,351 (GRCm39) |
|
probably benign |
Het |
| Aebp2 |
T |
A |
6: 140,599,984 (GRCm39) |
|
probably benign |
Het |
| Akap13 |
A |
G |
7: 75,258,732 (GRCm39) |
E452G |
probably damaging |
Het |
| Armh4 |
T |
A |
14: 50,007,893 (GRCm39) |
T527S |
probably damaging |
Het |
| Ccdc83 |
A |
T |
7: 89,875,986 (GRCm39) |
L295* |
probably null |
Het |
| Cd209c |
T |
C |
8: 4,004,635 (GRCm39) |
|
noncoding transcript |
Het |
| Cpsf7 |
A |
T |
19: 10,517,001 (GRCm39) |
I368F |
probably damaging |
Het |
| Csf1r |
G |
A |
18: 61,252,078 (GRCm39) |
C520Y |
probably damaging |
Het |
| Dapk1 |
A |
G |
13: 60,867,498 (GRCm39) |
D235G |
probably benign |
Het |
| Ercc1 |
G |
A |
7: 19,081,057 (GRCm39) |
|
probably benign |
Het |
| Fktn |
T |
C |
4: 53,720,201 (GRCm39) |
S72P |
probably damaging |
Het |
| Frem2 |
C |
A |
3: 53,452,923 (GRCm39) |
V2189F |
possibly damaging |
Het |
| Gm10845 |
G |
T |
14: 80,100,563 (GRCm39) |
|
noncoding transcript |
Het |
| Hk1 |
C |
A |
10: 62,151,319 (GRCm39) |
K10N |
probably damaging |
Het |
| Lama1 |
A |
G |
17: 68,111,513 (GRCm39) |
M2255V |
probably benign |
Het |
| Lrsam1 |
G |
T |
2: 32,845,203 (GRCm39) |
T104K |
possibly damaging |
Het |
| Myh6 |
T |
A |
14: 55,199,565 (GRCm39) |
I249F |
probably damaging |
Het |
| Myo7a |
G |
A |
7: 97,751,881 (GRCm39) |
T54M |
probably damaging |
Het |
| Or52ae7 |
T |
C |
7: 103,119,278 (GRCm39) |
S11P |
probably damaging |
Het |
| Or5k15 |
A |
C |
16: 58,710,242 (GRCm39) |
C114G |
probably benign |
Het |
| Osbpl8 |
T |
A |
10: 111,105,280 (GRCm39) |
I245N |
possibly damaging |
Het |
| Pfkp |
A |
G |
13: 6,671,025 (GRCm39) |
S135P |
probably damaging |
Het |
| Phf20l1 |
C |
T |
15: 66,476,686 (GRCm39) |
T260I |
possibly damaging |
Het |
| Pole |
T |
A |
5: 110,485,071 (GRCm39) |
I395K |
possibly damaging |
Het |
| Ppp6r2 |
T |
G |
15: 89,149,361 (GRCm39) |
C216W |
probably damaging |
Het |
| Pramel7 |
C |
T |
2: 87,320,415 (GRCm39) |
A293T |
probably benign |
Het |
| Rpl11 |
G |
A |
4: 135,778,454 (GRCm39) |
|
probably benign |
Het |
| Scamp3 |
G |
A |
3: 89,089,234 (GRCm39) |
|
probably null |
Het |
| Setbp1 |
T |
C |
18: 78,903,137 (GRCm39) |
R177G |
probably damaging |
Het |
| Sh2b3 |
G |
T |
5: 121,966,549 (GRCm39) |
|
probably benign |
Het |
| Tbc1d30 |
A |
G |
10: 121,130,617 (GRCm39) |
F271S |
probably damaging |
Het |
| Tpo |
T |
C |
12: 30,153,151 (GRCm39) |
E401G |
possibly damaging |
Het |
| Zdhhc13 |
T |
C |
7: 48,458,589 (GRCm39) |
Y308H |
probably damaging |
Het |
| Zfp112 |
C |
T |
7: 23,825,798 (GRCm39) |
H589Y |
probably damaging |
Het |
| Zmiz1 |
T |
C |
14: 25,636,434 (GRCm39) |
S140P |
probably 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 |
|
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'- GAGTATGGACAGTGGCTGAC -3'
(R):5'- TAACCCTGCAGATACCAGAGG -3'
Sequencing Primer
(F):5'- TGACTGCGTGCATCCAGAC -3'
(R):5'- AGGTTAATTCTCTGCCCC -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation