Incidental Mutation 'IGL02454:Amz2'
| ID |
293781 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Amz2
|
| Ensembl Gene |
ENSMUSG00000020610 |
| Gene Name |
archaelysin family metallopeptidase 2 |
| Synonyms |
ESTM12 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02454
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
109316772-109328974 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to G
at 109324887 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099350
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020929]
[ENSMUST00000092500]
[ENSMUST00000103061]
|
| AlphaFold |
Q400C8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020929
|
| SMART Domains |
Protein: ENSMUSP00000020929
Gene: ENSMUSG00000020610
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_M54
|
220 |
302 |
7.2e-17 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000092500
|
| SMART Domains |
Protein: ENSMUSP00000090157
Gene: ENSMUSG00000020610
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_M54
|
232 |
302 |
2e-16 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000103061
|
| SMART Domains |
Protein: ENSMUSP00000099350
Gene: ENSMUSG00000020610
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_M54
|
232 |
302 |
2e-16 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125108
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131181
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141739
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148057
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155036
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp13a5 |
A |
G |
16: 29,051,560 (GRCm39) |
F1104S |
probably benign |
Het |
| Cacna1c |
T |
C |
6: 118,579,141 (GRCm39) |
N1610S |
probably damaging |
Het |
| Ccnl1 |
A |
T |
3: 65,864,318 (GRCm39) |
D122E |
probably damaging |
Het |
| Crtc2 |
G |
A |
3: 90,166,474 (GRCm39) |
G65S |
probably benign |
Het |
| Dnah17 |
T |
C |
11: 117,971,593 (GRCm39) |
T2160A |
probably damaging |
Het |
| Fads3 |
T |
G |
19: 10,032,483 (GRCm39) |
L278R |
probably damaging |
Het |
| Foxp4 |
A |
T |
17: 48,186,507 (GRCm39) |
L424* |
probably null |
Het |
| Gm10392 |
A |
T |
11: 77,409,216 (GRCm39) |
E310V |
probably damaging |
Het |
| Gm11554 |
T |
A |
11: 99,694,815 (GRCm39) |
S133C |
unknown |
Het |
| Hacd2 |
T |
A |
16: 34,926,761 (GRCm39) |
F253L |
probably benign |
Het |
| Il3ra |
T |
C |
14: 14,351,113 (GRCm38) |
S212P |
probably benign |
Het |
| Mdn1 |
T |
C |
4: 32,694,674 (GRCm39) |
|
probably null |
Het |
| Mtfr1l |
A |
T |
4: 134,257,696 (GRCm39) |
L111H |
probably damaging |
Het |
| Mysm1 |
A |
G |
4: 94,858,741 (GRCm39) |
|
probably benign |
Het |
| Or10j2 |
C |
A |
1: 173,098,507 (GRCm39) |
S255Y |
probably damaging |
Het |
| Or52d1 |
T |
C |
7: 103,755,819 (GRCm39) |
V111A |
probably damaging |
Het |
| Plec |
A |
T |
15: 76,075,231 (GRCm39) |
F357I |
probably damaging |
Het |
| Polr3a |
C |
A |
14: 24,525,891 (GRCm39) |
V450L |
possibly damaging |
Het |
| Prkd1 |
T |
C |
12: 50,411,456 (GRCm39) |
K764R |
probably benign |
Het |
| Pxn |
C |
T |
5: 115,690,325 (GRCm39) |
P256S |
probably damaging |
Het |
| Rbm25 |
T |
A |
12: 83,707,096 (GRCm39) |
F247L |
probably benign |
Het |
| Rfx4 |
C |
T |
10: 84,675,970 (GRCm39) |
T62M |
possibly damaging |
Het |
| Rps4l-ps |
T |
C |
7: 114,526,499 (GRCm39) |
|
noncoding transcript |
Het |
| Scn11a |
A |
G |
9: 119,587,610 (GRCm39) |
I1378T |
probably benign |
Het |
| Siglecg |
T |
C |
7: 43,058,319 (GRCm39) |
S69P |
probably benign |
Het |
| Stox1 |
T |
C |
10: 62,503,605 (GRCm39) |
Y61C |
probably damaging |
Het |
| Tex55 |
T |
A |
16: 38,648,309 (GRCm39) |
T267S |
probably benign |
Het |
| Tnks |
C |
T |
8: 35,298,882 (GRCm39) |
|
probably benign |
Het |
| Tpr |
A |
G |
1: 150,306,943 (GRCm39) |
S1587G |
probably benign |
Het |
| Trappc6b |
A |
G |
12: 59,090,433 (GRCm39) |
*97Q |
probably null |
Het |
| Usf3 |
T |
C |
16: 44,037,545 (GRCm39) |
V675A |
probably damaging |
Het |
| Wdr7 |
C |
T |
18: 63,929,299 (GRCm39) |
T1045M |
probably benign |
Het |
| Zc3h11a |
A |
T |
1: 133,552,254 (GRCm39) |
C618S |
probably benign |
Het |
| Zfp398 |
T |
C |
6: 47,817,301 (GRCm39) |
V47A |
possibly damaging |
Het |
| Zzz3 |
A |
G |
3: 152,134,211 (GRCm39) |
N423S |
probably benign |
Het |
|
| Other mutations in Amz2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00339:Amz2
|
APN |
11 |
109,324,847 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03163:Amz2
|
APN |
11 |
109,319,751 (GRCm39) |
missense |
probably benign |
0.00 |
|
BB004:Amz2
|
UTSW |
11 |
109,319,884 (GRCm39) |
missense |
probably damaging |
0.96 |
|
BB014:Amz2
|
UTSW |
11 |
109,319,884 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0546:Amz2
|
UTSW |
11 |
109,324,780 (GRCm39) |
missense |
probably benign |
|
|
R1617:Amz2
|
UTSW |
11 |
109,324,850 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1913:Amz2
|
UTSW |
11 |
109,319,697 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2179:Amz2
|
UTSW |
11 |
109,320,658 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4291:Amz2
|
UTSW |
11 |
109,324,881 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4722:Amz2
|
UTSW |
11 |
109,325,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5797:Amz2
|
UTSW |
11 |
109,317,905 (GRCm39) |
start gained |
probably benign |
|
|
R5845:Amz2
|
UTSW |
11 |
109,324,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6341:Amz2
|
UTSW |
11 |
109,319,653 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6384:Amz2
|
UTSW |
11 |
109,319,860 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7698:Amz2
|
UTSW |
11 |
109,319,833 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7896:Amz2
|
UTSW |
11 |
109,327,413 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7927:Amz2
|
UTSW |
11 |
109,319,884 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9688:Amz2
|
UTSW |
11 |
109,320,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation