Incidental Mutation 'IGL00787:Adam30'
ID |
12440 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Adam30
|
Ensembl Gene |
ENSMUSG00000043468 |
Gene Name |
a disintegrin and metallopeptidase domain 30 |
Synonyms |
4933424D07Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.055)
|
Stock # |
IGL00787
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
98067950-98071485 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 98069486 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 440
(S440T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000060505
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050342]
[ENSMUST00000198363]
|
AlphaFold |
Q811Q3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000050342
AA Change: S440T
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000060505 Gene: ENSMUSG00000043468 AA Change: S440T
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
Pfam:Pep_M12B_propep
|
36 |
159 |
5.7e-20 |
PFAM |
low complexity region
|
176 |
187 |
N/A |
INTRINSIC |
Pfam:Reprolysin
|
202 |
393 |
1.1e-31 |
PFAM |
DISIN
|
407 |
482 |
1.6e-32 |
SMART |
ACR
|
483 |
625 |
1.84e-52 |
SMART |
transmembrane domain
|
690 |
712 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000198363
|
SMART Domains |
Protein: ENSMUSP00000142590 Gene: ENSMUSG00000043468
Domain | Start | End | E-Value | Type |
low complexity region
|
48 |
59 |
N/A |
INTRINSIC |
Pfam:Reprolysin_5
|
72 |
259 |
2.6e-6 |
PFAM |
Pfam:Reprolysin
|
74 |
265 |
2.1e-29 |
PFAM |
Pfam:Reprolysin_3
|
101 |
220 |
1.1e-4 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. This gene is testis-specific and contains a polymorphic region, resulting in isoforms with varying numbers of C-terminal repeats. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 17 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrl3 |
T |
G |
5: 81,841,401 (GRCm39) |
N827K |
probably damaging |
Het |
Ces1c |
A |
T |
8: 93,846,994 (GRCm39) |
S87T |
possibly damaging |
Het |
Ctdp1 |
C |
A |
18: 80,501,907 (GRCm39) |
|
probably null |
Het |
Cwh43 |
T |
A |
5: 73,578,832 (GRCm39) |
F280I |
possibly damaging |
Het |
Dcaf13 |
T |
A |
15: 39,007,027 (GRCm39) |
Y320* |
probably null |
Het |
Dgkh |
A |
C |
14: 78,855,954 (GRCm39) |
|
probably benign |
Het |
Dnah1 |
A |
T |
14: 31,022,020 (GRCm39) |
V1161E |
possibly damaging |
Het |
Gabrg2 |
T |
C |
11: 41,803,349 (GRCm39) |
R399G |
probably benign |
Het |
Gpr75 |
T |
A |
11: 30,842,290 (GRCm39) |
F398L |
probably benign |
Het |
Kif24 |
G |
A |
4: 41,397,583 (GRCm39) |
T525I |
probably damaging |
Het |
Kif5b |
A |
T |
18: 6,226,973 (GRCm39) |
|
probably benign |
Het |
Klc2 |
T |
G |
19: 5,161,690 (GRCm39) |
E300A |
probably benign |
Het |
Nol6 |
C |
T |
4: 41,122,198 (GRCm39) |
V171I |
probably benign |
Het |
Nop2 |
C |
T |
6: 125,110,509 (GRCm39) |
S45L |
probably damaging |
Het |
Polr3b |
A |
G |
10: 84,512,854 (GRCm39) |
T579A |
probably benign |
Het |
Terb1 |
A |
T |
8: 105,178,439 (GRCm39) |
S662T |
probably benign |
Het |
Ugt2b37 |
T |
A |
5: 87,390,288 (GRCm39) |
Y386F |
probably benign |
Het |
|
Other mutations in Adam30 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01630:Adam30
|
APN |
3 |
98,069,171 (GRCm39) |
missense |
possibly damaging |
0.83 |
IGL01825:Adam30
|
APN |
3 |
98,069,217 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL02033:Adam30
|
APN |
3 |
98,068,787 (GRCm39) |
missense |
probably benign |
0.13 |
IGL03157:Adam30
|
APN |
3 |
98,069,612 (GRCm39) |
missense |
possibly damaging |
0.85 |
IGL03330:Adam30
|
APN |
3 |
98,069,772 (GRCm39) |
missense |
probably damaging |
1.00 |
R0512:Adam30
|
UTSW |
3 |
98,069,441 (GRCm39) |
missense |
probably damaging |
1.00 |
R1082:Adam30
|
UTSW |
3 |
98,069,606 (GRCm39) |
missense |
probably benign |
0.30 |
R1173:Adam30
|
UTSW |
3 |
98,070,222 (GRCm39) |
missense |
probably benign |
0.07 |
R1463:Adam30
|
UTSW |
3 |
98,069,841 (GRCm39) |
missense |
probably damaging |
1.00 |
R1771:Adam30
|
UTSW |
3 |
98,068,835 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1862:Adam30
|
UTSW |
3 |
98,069,429 (GRCm39) |
nonsense |
probably null |
|
R3442:Adam30
|
UTSW |
3 |
98,069,886 (GRCm39) |
missense |
probably benign |
0.35 |
R4125:Adam30
|
UTSW |
3 |
98,068,679 (GRCm39) |
missense |
probably damaging |
1.00 |
R4714:Adam30
|
UTSW |
3 |
98,070,170 (GRCm39) |
missense |
probably damaging |
1.00 |
R4816:Adam30
|
UTSW |
3 |
98,070,061 (GRCm39) |
missense |
possibly damaging |
0.68 |
R5447:Adam30
|
UTSW |
3 |
98,068,659 (GRCm39) |
missense |
probably benign |
0.09 |
R5958:Adam30
|
UTSW |
3 |
98,069,280 (GRCm39) |
missense |
probably damaging |
1.00 |
R6175:Adam30
|
UTSW |
3 |
98,070,266 (GRCm39) |
missense |
probably damaging |
1.00 |
R6220:Adam30
|
UTSW |
3 |
98,068,625 (GRCm39) |
missense |
probably damaging |
0.98 |
R6338:Adam30
|
UTSW |
3 |
98,068,857 (GRCm39) |
missense |
probably damaging |
1.00 |
R6365:Adam30
|
UTSW |
3 |
98,068,350 (GRCm39) |
missense |
probably damaging |
0.99 |
R6998:Adam30
|
UTSW |
3 |
98,070,026 (GRCm39) |
missense |
probably benign |
0.03 |
R7086:Adam30
|
UTSW |
3 |
98,068,635 (GRCm39) |
missense |
probably damaging |
1.00 |
R7290:Adam30
|
UTSW |
3 |
98,070,257 (GRCm39) |
missense |
probably benign |
0.00 |
R7340:Adam30
|
UTSW |
3 |
98,069,637 (GRCm39) |
missense |
probably benign |
0.14 |
R8181:Adam30
|
UTSW |
3 |
98,070,291 (GRCm39) |
missense |
probably benign |
|
R8725:Adam30
|
UTSW |
3 |
98,070,348 (GRCm39) |
missense |
possibly damaging |
0.96 |
R8727:Adam30
|
UTSW |
3 |
98,070,348 (GRCm39) |
missense |
possibly damaging |
0.96 |
R8913:Adam30
|
UTSW |
3 |
98,068,580 (GRCm39) |
missense |
possibly damaging |
0.68 |
R8977:Adam30
|
UTSW |
3 |
98,069,378 (GRCm39) |
missense |
probably damaging |
0.98 |
R9008:Adam30
|
UTSW |
3 |
98,070,034 (GRCm39) |
nonsense |
probably null |
|
R9126:Adam30
|
UTSW |
3 |
98,068,307 (GRCm39) |
missense |
probably benign |
0.00 |
R9181:Adam30
|
UTSW |
3 |
98,070,194 (GRCm39) |
missense |
probably benign |
0.05 |
R9274:Adam30
|
UTSW |
3 |
98,069,267 (GRCm39) |
missense |
probably benign |
0.06 |
R9338:Adam30
|
UTSW |
3 |
98,070,129 (GRCm39) |
missense |
probably damaging |
1.00 |
R9636:Adam30
|
UTSW |
3 |
98,068,312 (GRCm39) |
missense |
probably benign |
0.06 |
R9640:Adam30
|
UTSW |
3 |
98,069,620 (GRCm39) |
missense |
probably damaging |
1.00 |
R9651:Adam30
|
UTSW |
3 |
98,069,936 (GRCm39) |
missense |
possibly damaging |
0.92 |
Z1176:Adam30
|
UTSW |
3 |
98,069,676 (GRCm39) |
missense |
possibly damaging |
0.92 |
Z1177:Adam30
|
UTSW |
3 |
98,068,295 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2012-12-06 |