Incidental Mutation 'IGL02033:Adam30'
| ID |
184419 |
| 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 # |
IGL02033
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
98067950-98071485 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 98068787 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 79
(V79F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142590
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050342]
[ENSMUST00000198363]
|
| AlphaFold |
Q811Q3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000050342
AA Change: V207F
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000060505
Gene: ENSMUSG00000043468
AA Change: V207F
| 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
AA Change: V79F
PolyPhen 2
Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000142590
Gene: ENSMUSG00000043468
AA Change: V79F
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
T |
A |
13: 77,407,995 (GRCm39) |
F107L |
possibly damaging |
Het |
| Akap8l |
T |
C |
17: 32,557,246 (GRCm39) |
R122G |
probably damaging |
Het |
| Apc |
T |
A |
18: 34,443,772 (GRCm39) |
S570R |
probably damaging |
Het |
| Btnl10 |
A |
G |
11: 58,810,141 (GRCm39) |
E94G |
probably damaging |
Het |
| Col25a1 |
A |
T |
3: 130,182,597 (GRCm39) |
|
probably benign |
Het |
| Cubn |
A |
C |
2: 13,344,657 (GRCm39) |
I2208S |
probably damaging |
Het |
| Cyp17a1 |
A |
T |
19: 46,661,046 (GRCm39) |
Y79* |
probably null |
Het |
| Dach1 |
T |
A |
14: 98,138,865 (GRCm39) |
H474L |
possibly damaging |
Het |
| Dnai4 |
G |
T |
4: 102,923,490 (GRCm39) |
N123K |
possibly damaging |
Het |
| Dscaml1 |
A |
T |
9: 45,595,080 (GRCm39) |
I728F |
probably damaging |
Het |
| Erp29 |
G |
T |
5: 121,590,305 (GRCm39) |
S33R |
probably benign |
Het |
| Fat3 |
A |
C |
9: 15,826,648 (GRCm39) |
S4435A |
possibly damaging |
Het |
| Fbxw13 |
T |
C |
9: 109,010,484 (GRCm39) |
I385V |
probably damaging |
Het |
| Hspg2 |
T |
C |
4: 137,279,565 (GRCm39) |
M3160T |
probably benign |
Het |
| Lrrc28 |
C |
T |
7: 67,209,605 (GRCm39) |
|
probably null |
Het |
| Myh15 |
T |
C |
16: 48,965,707 (GRCm39) |
V1204A |
probably benign |
Het |
| Or5b104 |
T |
C |
19: 13,072,221 (GRCm39) |
S91G |
possibly damaging |
Het |
| Pcare |
T |
A |
17: 72,058,076 (GRCm39) |
I534F |
probably damaging |
Het |
| Pde5a |
G |
A |
3: 122,596,710 (GRCm39) |
E434K |
possibly damaging |
Het |
| Pgr |
T |
A |
9: 8,965,111 (GRCm39) |
V753E |
probably damaging |
Het |
| Pik3c3 |
T |
A |
18: 30,445,703 (GRCm39) |
S563R |
possibly damaging |
Het |
| Ppt2 |
A |
G |
17: 34,844,728 (GRCm39) |
|
probably benign |
Het |
| Prg4 |
T |
A |
1: 150,331,619 (GRCm39) |
|
probably benign |
Het |
| Pygo1 |
G |
T |
9: 72,852,683 (GRCm39) |
S290I |
possibly damaging |
Het |
| Ralgapa1 |
G |
T |
12: 55,689,262 (GRCm39) |
H1946N |
possibly damaging |
Het |
| Rap1gds1 |
A |
G |
3: 138,661,232 (GRCm39) |
|
probably benign |
Het |
| Sema4g |
G |
A |
19: 44,985,854 (GRCm39) |
R256H |
probably damaging |
Het |
| Slc22a12 |
T |
G |
19: 6,587,844 (GRCm39) |
D370A |
probably benign |
Het |
| Spata16 |
G |
A |
3: 26,967,483 (GRCm39) |
|
probably null |
Het |
| Trim44 |
A |
G |
2: 102,230,521 (GRCm39) |
M170T |
possibly damaging |
Het |
| Trpv6 |
A |
T |
6: 41,604,551 (GRCm39) |
|
probably benign |
Het |
| Vwa8 |
T |
G |
14: 79,221,649 (GRCm39) |
L535R |
possibly damaging |
Het |
|
| Other mutations in Adam30 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00787:Adam30
|
APN |
3 |
98,069,486 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
|
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 |
2014-05-07 |
Incidental Mutation