Incidental Mutation 'R9636:Adam30'
| ID |
725783 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam30
|
| Ensembl Gene |
ENSMUSG00000043468 |
| Gene Name |
a disintegrin and metallopeptidase domain 30 |
| Synonyms |
4933424D07Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
R9636 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
98067950-98071485 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 98068312 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 48
(I48M)
|
| 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: I48M
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000060505
Gene: ENSMUSG00000043468
AA Change: I48M
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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 |
|---|
| Arnt2 |
T |
G |
7: 83,993,042 (GRCm39) |
E177A |
probably benign |
Het |
| Atad3a |
T |
C |
4: 155,833,616 (GRCm39) |
T421A |
possibly damaging |
Het |
| Cdh6 |
A |
G |
15: 13,057,655 (GRCm39) |
L222P |
probably benign |
Het |
| Celf3 |
A |
G |
3: 94,394,580 (GRCm39) |
H304R |
possibly damaging |
Het |
| Ces1a |
T |
C |
8: 93,759,263 (GRCm39) |
E291G |
probably benign |
Het |
| Dicer1 |
C |
T |
12: 104,688,406 (GRCm39) |
W390* |
probably null |
Het |
| Fsip2 |
A |
T |
2: 82,820,563 (GRCm39) |
Q5432L |
possibly damaging |
Het |
| Gm12830 |
T |
C |
4: 114,698,859 (GRCm39) |
S73P |
|
Het |
| Hyal5 |
A |
G |
6: 24,876,656 (GRCm39) |
I176M |
possibly damaging |
Het |
| Ifna7 |
T |
C |
4: 88,734,733 (GRCm39) |
I90T |
possibly damaging |
Het |
| Klhl3 |
T |
C |
13: 58,198,863 (GRCm39) |
T259A |
probably damaging |
Het |
| Kpna3 |
A |
G |
14: 61,624,903 (GRCm39) |
S147P |
probably damaging |
Het |
| Lama4 |
A |
G |
10: 38,956,500 (GRCm39) |
D1141G |
possibly damaging |
Het |
| Letm2 |
T |
C |
8: 26,083,719 (GRCm39) |
I171V |
probably benign |
Het |
| Nfatc1 |
T |
A |
18: 80,706,611 (GRCm39) |
Q602L |
possibly damaging |
Het |
| Or13c7 |
T |
A |
4: 43,854,898 (GRCm39) |
N196K |
probably damaging |
Het |
| Or4k45 |
A |
T |
2: 111,395,786 (GRCm39) |
M1K |
probably null |
Het |
| Ppp4r4 |
T |
C |
12: 103,564,688 (GRCm39) |
V18A |
unknown |
Het |
| Prkdc |
G |
A |
16: 15,548,341 (GRCm39) |
R1983H |
probably benign |
Het |
| Ptprz1 |
A |
G |
6: 22,999,994 (GRCm39) |
R695G |
probably benign |
Het |
| Rbbp6 |
AAAGAAGAAGAAGAAGAAG |
AAAGAAGAAGAAGAAG |
7: 122,601,175 (GRCm39) |
|
probably benign |
Het |
| Riok1 |
T |
C |
13: 38,242,719 (GRCm39) |
|
probably null |
Het |
| Rnf180 |
T |
A |
13: 105,386,819 (GRCm39) |
H164L |
possibly damaging |
Het |
| Slc2a3 |
A |
G |
6: 122,709,362 (GRCm39) |
S346P |
probably damaging |
Het |
| Slit3 |
A |
T |
11: 35,594,088 (GRCm39) |
D1426V |
probably damaging |
Het |
| Try10 |
A |
G |
6: 41,332,505 (GRCm39) |
N54D |
probably benign |
Het |
| Vmn2r71 |
T |
C |
7: 85,268,388 (GRCm39) |
V197A |
possibly damaging |
Het |
| Wdfy3 |
C |
A |
5: 102,047,899 (GRCm39) |
R1802L |
probably benign |
Het |
| Zfyve16 |
T |
C |
13: 92,631,456 (GRCm39) |
R1380G |
probably benign |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAAACCAGGCTGGAGTTG -3'
(R):5'- ACACTGGTCTGGTATATGCGG -3'
Sequencing Primer
(F):5'- TGCTACTCCTGGGTCCAG -3'
(R):5'- GCGGATAATCCTCTATCAGACTG -3'
|
| Posted On |
2022-09-12 |
Incidental Mutation