Incidental Mutation 'R6730:Adam20'
| ID |
530022 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam20
|
| Ensembl Gene |
ENSMUSG00000046282 |
| Gene Name |
a disintegrin and metallopeptidase domain 20 |
| Synonyms |
4930529F22Rik |
| MMRRC Submission |
044848-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6730 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
41246310-41250340 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 41249696 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 602
(V602A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057794
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056331]
|
| AlphaFold |
Q7M763 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000056331
AA Change: V602A
PolyPhen 2
Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000057794
Gene: ENSMUSG00000046282
AA Change: V602A
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.5%
|
| Validation Efficiency |
100% (44/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930455H04Rik |
T |
A |
3: 116,777,124 (GRCm39) |
*59R |
probably null |
Het |
| Adam10 |
G |
T |
9: 70,647,458 (GRCm39) |
|
probably null |
Het |
| Adam2 |
A |
T |
14: 66,275,025 (GRCm39) |
N569K |
possibly damaging |
Het |
| Adgrb3 |
T |
C |
1: 25,133,375 (GRCm39) |
Y1237C |
probably damaging |
Het |
| Ago3 |
T |
C |
4: 126,265,338 (GRCm39) |
T318A |
probably null |
Het |
| Aknad1 |
G |
A |
3: 108,659,655 (GRCm39) |
G223D |
possibly damaging |
Het |
| Camkv |
T |
C |
9: 107,825,516 (GRCm39) |
S478P |
possibly damaging |
Het |
| Ccl27a |
T |
A |
4: 41,773,342 (GRCm39) |
H39L |
probably damaging |
Het |
| Ccser2 |
C |
A |
14: 36,601,043 (GRCm39) |
S447I |
probably damaging |
Het |
| Clvs2 |
A |
G |
10: 33,404,517 (GRCm39) |
L233P |
probably damaging |
Het |
| Csn1s2b |
T |
A |
5: 87,970,127 (GRCm39) |
H124Q |
probably benign |
Het |
| Dnhd1 |
T |
C |
7: 105,353,082 (GRCm39) |
L2745P |
probably benign |
Het |
| Dync1i2 |
T |
A |
2: 71,077,484 (GRCm39) |
F219L |
probably benign |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Ephb6 |
C |
T |
6: 41,594,308 (GRCm39) |
Q613* |
probably null |
Het |
| Erc2 |
A |
C |
14: 27,620,524 (GRCm39) |
D50A |
possibly damaging |
Het |
| Fam149a |
T |
A |
8: 45,834,211 (GRCm39) |
D196V |
probably damaging |
Het |
| Ficd |
T |
C |
5: 113,876,773 (GRCm39) |
V316A |
probably damaging |
Het |
| Gstm6 |
T |
A |
3: 107,850,041 (GRCm39) |
K18* |
probably null |
Het |
| Ighv1-62-1 |
A |
T |
12: 115,350,512 (GRCm39) |
W52R |
probably benign |
Het |
| Klhl18 |
C |
T |
9: 110,257,979 (GRCm39) |
C417Y |
probably damaging |
Het |
| Ly9 |
T |
A |
1: 171,432,737 (GRCm39) |
Y92F |
probably benign |
Het |
| Mettl18 |
C |
T |
1: 163,824,750 (GRCm39) |
T357I |
probably damaging |
Het |
| Myoz2 |
C |
A |
3: 122,810,276 (GRCm39) |
G100C |
probably damaging |
Het |
| Or10a49 |
A |
T |
7: 108,467,780 (GRCm39) |
F194I |
probably benign |
Het |
| Or4k47 |
A |
G |
2: 111,452,080 (GRCm39) |
V113A |
probably damaging |
Het |
| Or7h8 |
T |
C |
9: 20,123,798 (GRCm39) |
I51T |
probably benign |
Het |
| Pars2 |
C |
T |
4: 106,510,628 (GRCm39) |
L128F |
probably damaging |
Het |
| Pcsk6 |
G |
T |
7: 65,629,996 (GRCm39) |
R374L |
probably damaging |
Het |
| Ptpn3 |
T |
C |
4: 57,270,088 (GRCm39) |
T25A |
probably benign |
Het |
| Rab11fip1 |
G |
A |
8: 27,633,257 (GRCm39) |
P1150S |
probably damaging |
Het |
| Rabep1 |
A |
G |
11: 70,831,212 (GRCm39) |
Q831R |
possibly damaging |
Het |
| Rad17 |
T |
C |
13: 100,786,253 (GRCm39) |
|
probably benign |
Het |
| Rxfp1 |
T |
A |
3: 79,557,898 (GRCm39) |
R527* |
probably null |
Het |
| Scnn1b |
C |
T |
7: 121,502,100 (GRCm39) |
P253S |
probably damaging |
Het |
| Skic2 |
G |
A |
17: 35,064,166 (GRCm39) |
R507* |
probably null |
Het |
| Slc2a7 |
T |
C |
4: 150,242,605 (GRCm39) |
F231S |
probably damaging |
Het |
| Svil |
A |
G |
18: 5,049,311 (GRCm39) |
N196S |
probably benign |
Het |
| Tent5c |
T |
A |
3: 100,380,273 (GRCm39) |
N161I |
probably benign |
Het |
| Urb1 |
T |
C |
16: 90,575,971 (GRCm39) |
S862G |
possibly damaging |
Het |
| Usp30 |
T |
C |
5: 114,241,770 (GRCm39) |
S87P |
probably damaging |
Het |
| Vmn1r177 |
T |
A |
7: 23,565,237 (GRCm39) |
H213L |
probably damaging |
Het |
| Vmn2r106 |
T |
A |
17: 20,499,096 (GRCm39) |
I272L |
possibly damaging |
Het |
| Vmn2r120 |
T |
A |
17: 57,832,012 (GRCm39) |
D259V |
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 |
|
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 |
|
R8530:Adam20
|
UTSW |
8 |
41,249,071 (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'- CAGTTGCTACAGAGAACTCAAC -3'
(R):5'- CCACTTTCCAGGCAATGTGG -3'
Sequencing Primer
(F):5'- TGCTACAGAGAACTCAACACCCAAG -3'
(R):5'- GGCAGTGATGTAAATTGTTGCACAC -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation