Incidental Mutation 'R8530:Adam20'
ID |
658994 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adam20
|
Ensembl Gene |
ENSMUSG00000046282 |
Gene Name |
a disintegrin and metallopeptidase domain 20 |
Synonyms |
4930529F22Rik |
MMRRC Submission |
068500-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8530 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
41246310-41250340 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 41249071 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 394
(S394G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000057794
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056331]
|
AlphaFold |
Q7M763 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000056331
AA Change: S394G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000057794 Gene: ENSMUSG00000046282 AA Change: S394G
Domain | Start | End | E-Value | Type |
Pfam:Pep_M12B_propep
|
51 |
177 |
1.3e-19 |
PFAM |
Pfam:Reprolysin_5
|
219 |
399 |
5.4e-16 |
PFAM |
Pfam:Reprolysin_4
|
219 |
408 |
5.4e-11 |
PFAM |
Pfam:Reprolysin
|
221 |
411 |
3.1e-45 |
PFAM |
Pfam:Reprolysin_3
|
248 |
366 |
2.5e-13 |
PFAM |
Pfam:Reprolysin_2
|
295 |
403 |
1e-14 |
PFAM |
DISIN
|
429 |
504 |
4.29e-33 |
SMART |
ACR
|
505 |
641 |
3.9e-74 |
SMART |
transmembrane domain
|
703 |
722 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
G |
C |
3: 137,774,586 (GRCm39) |
E1258D |
probably damaging |
Het |
4930407I10Rik |
T |
A |
15: 81,949,587 (GRCm39) |
H1161Q |
probably damaging |
Het |
Akr1c12 |
A |
T |
13: 4,320,160 (GRCm39) |
F310Y |
probably benign |
Het |
Ank |
G |
A |
15: 27,544,490 (GRCm39) |
A84T |
probably benign |
Het |
Bcas1 |
A |
T |
2: 170,229,868 (GRCm39) |
I244K |
probably damaging |
Het |
Cacna1a |
T |
C |
8: 85,339,043 (GRCm39) |
|
probably null |
Het |
Car14 |
T |
C |
3: 95,807,670 (GRCm39) |
H79R |
probably benign |
Het |
Cd163 |
T |
C |
6: 124,295,860 (GRCm39) |
Y735H |
probably damaging |
Het |
Cdh11 |
G |
A |
8: 103,391,387 (GRCm39) |
P283L |
probably benign |
Het |
Cfi |
C |
T |
3: 129,644,382 (GRCm39) |
T126I |
possibly damaging |
Het |
Col6a4 |
T |
A |
9: 105,957,704 (GRCm39) |
H40L |
probably benign |
Het |
Dbh |
A |
G |
2: 27,058,318 (GRCm39) |
D162G |
probably damaging |
Het |
Dnah14 |
A |
G |
1: 181,492,511 (GRCm39) |
K1657R |
probably damaging |
Het |
E2f7 |
T |
A |
10: 110,614,859 (GRCm39) |
V521D |
probably benign |
Het |
Eif3g |
A |
C |
9: 20,809,026 (GRCm39) |
S93A |
possibly damaging |
Het |
Fa2h |
T |
C |
8: 112,082,788 (GRCm39) |
E143G |
probably benign |
Het |
Foxc1 |
C |
A |
13: 31,991,771 (GRCm39) |
P194Q |
probably benign |
Het |
Fyco1 |
A |
G |
9: 123,669,605 (GRCm39) |
|
probably null |
Het |
Gabrb3 |
T |
C |
7: 57,461,819 (GRCm39) |
S256P |
probably damaging |
Het |
Gcc1 |
C |
A |
6: 28,420,730 (GRCm39) |
D196Y |
probably damaging |
Het |
Herc1 |
T |
A |
9: 66,325,910 (GRCm39) |
D1461E |
probably benign |
Het |
Hmcn2 |
C |
A |
2: 31,281,088 (GRCm39) |
L1867I |
probably benign |
Het |
Hps6 |
A |
T |
19: 45,991,959 (GRCm39) |
|
probably benign |
Het |
Macc1 |
A |
T |
12: 119,409,474 (GRCm39) |
I81F |
probably damaging |
Het |
Man2c1 |
G |
T |
9: 57,038,922 (GRCm39) |
D111Y |
probably damaging |
Het |
Mast3 |
A |
T |
8: 71,240,877 (GRCm39) |
I240N |
possibly damaging |
Het |
Matn1 |
A |
T |
4: 130,677,447 (GRCm39) |
K219* |
probably null |
Het |
Nup210 |
C |
G |
6: 91,053,627 (GRCm39) |
A297P |
possibly damaging |
Het |
Or5d43 |
A |
T |
2: 88,105,154 (GRCm39) |
L80I |
probably damaging |
Het |
Or6d12 |
T |
A |
6: 116,493,530 (GRCm39) |
I264K |
probably damaging |
Het |
Pcare |
T |
C |
17: 72,059,101 (GRCm39) |
Y192C |
probably damaging |
Het |
Pcnt |
G |
A |
10: 76,256,039 (GRCm39) |
R734W |
probably damaging |
Het |
Phactr3 |
A |
G |
2: 177,925,819 (GRCm39) |
N360D |
probably damaging |
Het |
Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
Potefam3a |
T |
C |
8: 20,356,984 (GRCm38) |
N242S |
probably benign |
Het |
Qtrt2 |
C |
A |
16: 43,689,407 (GRCm39) |
G197V |
probably damaging |
Het |
Rabep1 |
A |
T |
11: 70,810,068 (GRCm39) |
L500F |
probably damaging |
Het |
Rhof |
T |
A |
5: 123,257,581 (GRCm39) |
D183V |
probably damaging |
Het |
Shprh |
T |
C |
10: 11,027,678 (GRCm39) |
V95A |
probably benign |
Het |
Spata31d1b |
A |
T |
13: 59,864,964 (GRCm39) |
N704I |
unknown |
Het |
Tas1r2 |
A |
T |
4: 139,389,460 (GRCm39) |
Y452F |
probably benign |
Het |
Tc2n |
A |
T |
12: 101,617,444 (GRCm39) |
F325Y |
possibly damaging |
Het |
Tiam2 |
G |
T |
17: 3,501,087 (GRCm39) |
V909L |
probably benign |
Het |
Tlx1 |
A |
T |
19: 45,139,524 (GRCm39) |
Y57F |
probably benign |
Het |
Uck1 |
C |
A |
2: 32,150,153 (GRCm39) |
|
probably benign |
Het |
Vmn2r58 |
A |
T |
7: 41,513,576 (GRCm39) |
W356R |
probably damaging |
Het |
Wars1 |
G |
A |
12: 108,848,818 (GRCm39) |
A43V |
probably damaging |
Het |
Wrn |
A |
T |
8: 33,770,852 (GRCm39) |
I694N |
possibly damaging |
Het |
Zfp120 |
A |
G |
2: 149,959,168 (GRCm39) |
Y385H |
probably benign |
Het |
|
Other mutations in Adam20 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00595:Adam20
|
APN |
8 |
41,249,084 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01357:Adam20
|
APN |
8 |
41,249,597 (GRCm39) |
missense |
probably benign |
0.09 |
IGL01877:Adam20
|
APN |
8 |
41,248,982 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02295:Adam20
|
APN |
8 |
41,249,873 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02683:Adam20
|
APN |
8 |
41,248,621 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03090:Adam20
|
APN |
8 |
41,247,965 (GRCm39) |
missense |
probably benign |
0.00 |
BB007:Adam20
|
UTSW |
8 |
41,250,107 (GRCm39) |
missense |
probably benign |
0.00 |
BB017:Adam20
|
UTSW |
8 |
41,250,107 (GRCm39) |
missense |
probably benign |
0.00 |
PIT4151001:Adam20
|
UTSW |
8 |
41,248,081 (GRCm39) |
missense |
possibly damaging |
0.58 |
PIT4696001:Adam20
|
UTSW |
8 |
41,247,985 (GRCm39) |
missense |
probably benign |
0.20 |
R0607:Adam20
|
UTSW |
8 |
41,248,517 (GRCm39) |
missense |
probably benign |
0.02 |
R0885:Adam20
|
UTSW |
8 |
41,249,595 (GRCm39) |
missense |
probably benign |
0.02 |
R1018:Adam20
|
UTSW |
8 |
41,249,146 (GRCm39) |
nonsense |
probably null |
|
R1147:Adam20
|
UTSW |
8 |
41,248,655 (GRCm39) |
missense |
possibly damaging |
0.82 |
R1147:Adam20
|
UTSW |
8 |
41,248,655 (GRCm39) |
missense |
possibly damaging |
0.82 |
R1421:Adam20
|
UTSW |
8 |
41,249,784 (GRCm39) |
missense |
possibly damaging |
0.48 |
R1739:Adam20
|
UTSW |
8 |
41,249,595 (GRCm39) |
missense |
probably benign |
0.02 |
R1778:Adam20
|
UTSW |
8 |
41,249,698 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1844:Adam20
|
UTSW |
8 |
41,249,080 (GRCm39) |
missense |
probably benign |
|
R3814:Adam20
|
UTSW |
8 |
41,248,712 (GRCm39) |
missense |
probably damaging |
1.00 |
R3877:Adam20
|
UTSW |
8 |
41,249,671 (GRCm39) |
missense |
possibly damaging |
0.75 |
R4193:Adam20
|
UTSW |
8 |
41,248,352 (GRCm39) |
missense |
probably damaging |
0.99 |
R4357:Adam20
|
UTSW |
8 |
41,248,084 (GRCm39) |
missense |
possibly damaging |
0.61 |
R4846:Adam20
|
UTSW |
8 |
41,248,048 (GRCm39) |
missense |
probably benign |
0.10 |
R5452:Adam20
|
UTSW |
8 |
41,248,801 (GRCm39) |
missense |
probably damaging |
0.96 |
R6559:Adam20
|
UTSW |
8 |
41,249,329 (GRCm39) |
missense |
probably benign |
0.03 |
R6708:Adam20
|
UTSW |
8 |
41,249,531 (GRCm39) |
missense |
probably damaging |
1.00 |
R6730:Adam20
|
UTSW |
8 |
41,249,696 (GRCm39) |
missense |
probably benign |
0.23 |
R7194:Adam20
|
UTSW |
8 |
41,249,449 (GRCm39) |
missense |
probably benign |
0.45 |
R7323:Adam20
|
UTSW |
8 |
41,248,421 (GRCm39) |
missense |
probably benign |
0.45 |
R7917:Adam20
|
UTSW |
8 |
41,249,408 (GRCm39) |
missense |
probably damaging |
1.00 |
R7930:Adam20
|
UTSW |
8 |
41,250,107 (GRCm39) |
missense |
probably benign |
0.00 |
R7954:Adam20
|
UTSW |
8 |
41,249,581 (GRCm39) |
missense |
probably damaging |
1.00 |
R7964:Adam20
|
UTSW |
8 |
41,249,944 (GRCm39) |
missense |
probably damaging |
0.97 |
R8006:Adam20
|
UTSW |
8 |
41,248,944 (GRCm39) |
missense |
probably benign |
0.02 |
R8125:Adam20
|
UTSW |
8 |
41,247,973 (GRCm39) |
missense |
probably benign |
0.01 |
R8134:Adam20
|
UTSW |
8 |
41,249,101 (GRCm39) |
missense |
probably benign |
0.02 |
R8435:Adam20
|
UTSW |
8 |
41,248,072 (GRCm39) |
missense |
probably damaging |
1.00 |
R8695:Adam20
|
UTSW |
8 |
41,248,865 (GRCm39) |
missense |
probably benign |
0.13 |
R8757:Adam20
|
UTSW |
8 |
41,248,943 (GRCm39) |
missense |
probably benign |
0.00 |
R8871:Adam20
|
UTSW |
8 |
41,248,601 (GRCm39) |
missense |
probably damaging |
0.98 |
R8935:Adam20
|
UTSW |
8 |
41,247,989 (GRCm39) |
missense |
probably benign |
0.00 |
R9110:Adam20
|
UTSW |
8 |
41,248,907 (GRCm39) |
missense |
probably benign |
0.14 |
R9696:Adam20
|
UTSW |
8 |
41,249,633 (GRCm39) |
missense |
probably damaging |
0.99 |
R9703:Adam20
|
UTSW |
8 |
41,248,971 (GRCm39) |
missense |
probably damaging |
1.00 |
R9706:Adam20
|
UTSW |
8 |
41,248,490 (GRCm39) |
missense |
probably benign |
0.00 |
R9712:Adam20
|
UTSW |
8 |
41,248,490 (GRCm39) |
missense |
probably benign |
0.00 |
R9713:Adam20
|
UTSW |
8 |
41,248,490 (GRCm39) |
missense |
probably benign |
0.00 |
R9715:Adam20
|
UTSW |
8 |
41,248,490 (GRCm39) |
missense |
probably benign |
0.00 |
X0062:Adam20
|
UTSW |
8 |
41,250,061 (GRCm39) |
missense |
probably benign |
0.03 |
|
Predicted Primers |
PCR Primer
(F):5'- GGTACTGTCTGTCTGCCATC -3'
(R):5'- CCTCTTCTCGGCAAACTGTG -3'
Sequencing Primer
(F):5'- TCTGCCATCTCATAATTGTGGAG -3'
(R):5'- AGCGCCATCATTAAGGGC -3'
|
Posted On |
2021-01-18 |