Incidental Mutation 'IGL03157:Adam30'
| ID |
411314 |
| 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 # |
IGL03157
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
98067950-98071485 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 98069612 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamine
at position 482
(K482Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000060505
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050342]
[ENSMUST00000198363]
|
| AlphaFold |
Q811Q3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000050342
AA Change: K482Q
PolyPhen 2
Score 0.846 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000060505
Gene: ENSMUSG00000043468
AA Change: K482Q
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
G |
A |
6: 142,551,649 (GRCm39) |
|
probably benign |
Het |
| Aqp4 |
T |
C |
18: 15,533,037 (GRCm39) |
R19G |
probably benign |
Het |
| Arhgap32 |
C |
T |
9: 32,170,430 (GRCm39) |
P1070L |
probably damaging |
Het |
| Bcat2 |
T |
C |
7: 45,224,922 (GRCm39) |
I31T |
probably benign |
Het |
| Csmd2 |
T |
A |
4: 128,308,092 (GRCm39) |
C1283* |
probably null |
Het |
| Fasn |
A |
G |
11: 120,698,735 (GRCm39) |
I2487T |
probably benign |
Het |
| Gys1 |
A |
G |
7: 45,089,323 (GRCm39) |
|
probably benign |
Het |
| Helz |
A |
G |
11: 107,468,714 (GRCm39) |
D79G |
possibly damaging |
Het |
| Il16 |
T |
C |
7: 83,371,611 (GRCm39) |
D65G |
probably damaging |
Het |
| Iqgap1 |
C |
T |
7: 80,401,636 (GRCm39) |
E490K |
probably benign |
Het |
| Kcnv2 |
A |
G |
19: 27,301,366 (GRCm39) |
K406E |
probably damaging |
Het |
| Kif26b |
T |
A |
1: 178,743,930 (GRCm39) |
L1342H |
probably damaging |
Het |
| Nlrp3 |
A |
G |
11: 59,440,372 (GRCm39) |
K650E |
possibly damaging |
Het |
| Opn1sw |
T |
A |
6: 29,379,803 (GRCm39) |
N144Y |
possibly damaging |
Het |
| Or2b2b |
T |
C |
13: 21,859,112 (GRCm39) |
M1V |
probably null |
Het |
| Or6z1 |
A |
G |
7: 6,504,892 (GRCm39) |
L111P |
probably damaging |
Het |
| Or8k30 |
T |
C |
2: 86,339,367 (GRCm39) |
L188P |
possibly damaging |
Het |
| Ovol1 |
T |
C |
19: 5,601,635 (GRCm39) |
H129R |
probably benign |
Het |
| Pigv |
T |
C |
4: 133,392,841 (GRCm39) |
S110G |
probably benign |
Het |
| Pole |
T |
A |
5: 110,441,619 (GRCm39) |
F253L |
probably benign |
Het |
| Samd3 |
T |
C |
10: 26,139,740 (GRCm39) |
Y291H |
probably benign |
Het |
| Slc4a4 |
T |
A |
5: 89,304,372 (GRCm39) |
I605N |
probably damaging |
Het |
| Sult1a1 |
T |
A |
7: 126,274,489 (GRCm39) |
Y58F |
probably damaging |
Het |
| Tfrc |
T |
A |
16: 32,439,223 (GRCm39) |
D362E |
probably benign |
Het |
| Thnsl2 |
T |
C |
6: 71,108,930 (GRCm39) |
T294A |
probably benign |
Het |
| Tnfsf10 |
G |
A |
3: 27,380,106 (GRCm39) |
G57R |
possibly damaging |
Het |
| Vps25 |
A |
T |
11: 101,147,723 (GRCm39) |
N73I |
probably benign |
Het |
| Wdfy1 |
G |
A |
1: 79,684,035 (GRCm39) |
H367Y |
probably damaging |
Het |
| Zfp568 |
T |
C |
7: 29,722,189 (GRCm39) |
L378P |
probably 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 |
|
IGL02033:Adam30
|
APN |
3 |
98,068,787 (GRCm39) |
missense |
probably benign |
0.13 |
|
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 |
2016-08-02 |
Incidental Mutation