Incidental Mutation 'R6998:Adam30'
ID |
544330 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adam30
|
Ensembl Gene |
ENSMUSG00000043468 |
Gene Name |
a disintegrin and metallopeptidase domain 30 |
Synonyms |
4933424D07Rik |
MMRRC Submission |
045010-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.054)
|
Stock # |
R6998 (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 98070026 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glycine
at position 620
(R620G)
|
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: R620G
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000060505 Gene: ENSMUSG00000043468 AA Change: R620G
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: 100.0%
- 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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy1 |
A |
C |
11: 7,029,026 (GRCm39) |
N259H |
probably damaging |
Het |
Ahctf1 |
G |
A |
1: 179,598,480 (GRCm39) |
R2* |
probably null |
Het |
Akr1c21 |
A |
G |
13: 4,633,850 (GRCm39) |
I306M |
probably benign |
Het |
Alg9 |
T |
A |
9: 50,700,921 (GRCm39) |
S230R |
possibly damaging |
Het |
Armt1 |
T |
A |
10: 4,403,937 (GRCm39) |
C341S |
probably benign |
Het |
Aspg |
T |
A |
12: 112,078,628 (GRCm39) |
L29M |
probably damaging |
Het |
Aspm |
C |
T |
1: 139,397,210 (GRCm39) |
T934I |
probably damaging |
Het |
C1rl |
T |
C |
6: 124,485,861 (GRCm39) |
S411P |
probably damaging |
Het |
Card14 |
A |
G |
11: 119,213,725 (GRCm39) |
E224G |
probably damaging |
Het |
Ccdc88c |
T |
C |
12: 100,883,111 (GRCm39) |
H1587R |
probably damaging |
Het |
Ccp110 |
A |
G |
7: 118,332,120 (GRCm39) |
T963A |
possibly damaging |
Het |
Cdk11b |
G |
A |
4: 155,732,800 (GRCm39) |
W546* |
probably null |
Het |
Cyp8b1 |
T |
C |
9: 121,745,059 (GRCm39) |
N91S |
probably benign |
Het |
Dab2 |
G |
T |
15: 6,454,130 (GRCm39) |
M213I |
possibly damaging |
Het |
Decr1 |
A |
G |
4: 15,930,960 (GRCm39) |
V124A |
probably damaging |
Het |
Fbxl13 |
T |
A |
5: 21,748,687 (GRCm39) |
I411F |
probably damaging |
Het |
Fbxl13 |
T |
C |
5: 21,825,611 (GRCm39) |
I164V |
probably null |
Het |
Fndc7 |
G |
A |
3: 108,783,964 (GRCm39) |
A215V |
probably benign |
Het |
Garem2 |
T |
C |
5: 30,319,168 (GRCm39) |
M210T |
possibly damaging |
Het |
Gpatch2l |
G |
A |
12: 86,290,958 (GRCm39) |
R47H |
probably damaging |
Het |
Ighv1-52 |
C |
A |
12: 115,109,112 (GRCm39) |
A115S |
probably benign |
Het |
Igkv6-13 |
A |
G |
6: 70,434,573 (GRCm39) |
S91P |
probably damaging |
Het |
Ints8 |
T |
A |
4: 11,204,537 (GRCm39) |
E973V |
possibly damaging |
Het |
Itga3 |
T |
C |
11: 94,942,288 (GRCm39) |
K972R |
probably benign |
Het |
Klhl33 |
A |
T |
14: 51,130,478 (GRCm39) |
F339I |
probably benign |
Het |
Krt79 |
T |
C |
15: 101,846,307 (GRCm39) |
M214V |
probably benign |
Het |
Lgsn |
A |
T |
1: 31,243,274 (GRCm39) |
H452L |
probably benign |
Het |
Limd2 |
C |
T |
11: 106,049,516 (GRCm39) |
G124D |
probably benign |
Het |
Luzp1 |
T |
C |
4: 136,270,755 (GRCm39) |
S993P |
probably damaging |
Het |
Maml2 |
C |
T |
9: 13,532,481 (GRCm39) |
|
probably benign |
Het |
Mbtd1 |
A |
T |
11: 93,815,438 (GRCm39) |
H342L |
probably damaging |
Het |
Mfhas1 |
C |
A |
8: 36,058,510 (GRCm39) |
P995Q |
probably damaging |
Het |
Muc5ac |
T |
C |
7: 141,372,451 (GRCm39) |
F3399S |
possibly damaging |
Het |
Napb |
T |
C |
2: 148,542,345 (GRCm39) |
Y205C |
probably damaging |
Het |
Odf2 |
G |
T |
2: 29,802,629 (GRCm39) |
A298S |
probably benign |
Het |
Or11g7 |
A |
T |
14: 50,690,890 (GRCm39) |
Y127F |
probably benign |
Het |
Or4s2b |
A |
T |
2: 88,508,852 (GRCm39) |
I218F |
probably benign |
Het |
Or8k35 |
A |
T |
2: 86,424,488 (GRCm39) |
M228K |
probably damaging |
Het |
Pcsk5 |
T |
C |
19: 17,450,476 (GRCm39) |
D1124G |
probably benign |
Het |
Peg10 |
CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG |
CCACATCAGGATCCACATCAGGATGCACATCAG |
6: 4,756,398 (GRCm39) |
|
probably benign |
Het |
Pik3c2b |
T |
G |
1: 133,030,110 (GRCm39) |
I1457S |
probably benign |
Het |
Pole2 |
T |
C |
12: 69,260,680 (GRCm39) |
T167A |
possibly damaging |
Het |
Rfx7 |
T |
A |
9: 72,525,787 (GRCm39) |
S992R |
probably damaging |
Het |
Ryr2 |
G |
T |
13: 11,727,052 (GRCm39) |
S2436R |
probably damaging |
Het |
Sgo2a |
A |
G |
1: 58,055,799 (GRCm39) |
D661G |
probably damaging |
Het |
Sh3glb2 |
T |
A |
2: 30,245,333 (GRCm39) |
T49S |
probably damaging |
Het |
Slc16a10 |
T |
C |
10: 39,932,499 (GRCm39) |
K354R |
possibly damaging |
Het |
Slc6a6 |
C |
A |
6: 91,729,419 (GRCm39) |
T568K |
probably benign |
Het |
Sptbn1 |
T |
C |
11: 30,050,633 (GRCm39) |
T2319A |
probably damaging |
Het |
Tbl1xr1 |
T |
A |
3: 22,233,454 (GRCm39) |
Y15N |
probably damaging |
Het |
Thyn1 |
T |
C |
9: 26,917,738 (GRCm39) |
S160P |
probably damaging |
Het |
Tshz1 |
A |
T |
18: 84,033,966 (GRCm39) |
D147E |
probably benign |
Het |
Vmn2r50 |
T |
G |
7: 9,771,684 (GRCm39) |
R672S |
probably benign |
Het |
Zfp663 |
A |
T |
2: 165,195,922 (GRCm39) |
I99N |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CACAATCTGTGGCAGGCTAC -3'
(R):5'- CGTTGAAAGTACTTCTATCCTGGG -3'
Sequencing Primer
(F):5'- TGGCAGGCTACAGTGTATCAATG -3'
(R):5'- GAAAGTACTTCTATCCTGGGTCCAG -3'
|
Posted On |
2019-05-13 |