Incidental Mutation 'R0885:Adam20'
| ID |
81162 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam20
|
| Ensembl Gene |
ENSMUSG00000046282 |
| Gene Name |
a disintegrin and metallopeptidase domain 20 |
| Synonyms |
4930529F22Rik |
| MMRRC Submission |
039052-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0885 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
41246310-41250340 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 41249595 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 568
(H568Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057794
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056331]
|
| AlphaFold |
Q7M763 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000056331
AA Change: H568Q
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000057794
Gene: ENSMUSG00000046282
AA Change: H568Q
| 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: 99.3%
- 3x: 98.7%
- 10x: 96.9%
- 20x: 92.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700020L13Rik |
T |
A |
7: 29,980,094 (GRCm39) |
Y46* |
probably null |
Het |
| Adam18 |
T |
C |
8: 25,141,802 (GRCm39) |
K256E |
probably damaging |
Het |
| Ambp |
A |
G |
4: 63,069,705 (GRCm39) |
L107P |
probably damaging |
Het |
| Art1 |
T |
C |
7: 101,756,541 (GRCm39) |
F244S |
probably damaging |
Het |
| Asxl2 |
C |
A |
12: 3,551,458 (GRCm39) |
L1067I |
probably damaging |
Het |
| Atm |
T |
C |
9: 53,371,123 (GRCm39) |
T2242A |
probably benign |
Het |
| Atp2c1 |
C |
T |
9: 105,298,772 (GRCm39) |
|
probably null |
Het |
| Bptf |
A |
G |
11: 106,934,617 (GRCm39) |
Y2819H |
probably damaging |
Het |
| Caskin1 |
G |
A |
17: 24,724,668 (GRCm39) |
R1152H |
probably damaging |
Het |
| Chd7 |
T |
A |
4: 8,866,432 (GRCm39) |
L868Q |
probably damaging |
Het |
| Cyp2d40 |
T |
C |
15: 82,645,116 (GRCm39) |
E178G |
unknown |
Het |
| Dclk1 |
G |
T |
3: 55,394,728 (GRCm39) |
R103S |
probably damaging |
Het |
| Des |
A |
G |
1: 75,337,374 (GRCm39) |
T105A |
probably damaging |
Het |
| Ebf3 |
T |
C |
7: 136,827,613 (GRCm39) |
T262A |
probably benign |
Het |
| Epha4 |
A |
G |
1: 77,359,576 (GRCm39) |
V759A |
probably damaging |
Het |
| Fryl |
A |
T |
5: 73,246,539 (GRCm39) |
F1078I |
probably damaging |
Het |
| Il20 |
T |
C |
1: 130,838,518 (GRCm39) |
I60V |
probably benign |
Het |
| Kif3c |
A |
T |
12: 3,415,981 (GRCm39) |
M1L |
probably benign |
Het |
| Lhfpl5 |
A |
T |
17: 28,795,011 (GRCm39) |
I13F |
probably damaging |
Het |
| Lin28b |
C |
T |
10: 45,257,324 (GRCm39) |
G218E |
probably damaging |
Het |
| Lrp2 |
A |
T |
2: 69,312,697 (GRCm39) |
N2530K |
possibly damaging |
Het |
| Matn2 |
T |
A |
15: 34,316,751 (GRCm39) |
F31Y |
possibly damaging |
Het |
| Mcm6 |
T |
C |
1: 128,276,670 (GRCm39) |
N307D |
probably benign |
Het |
| Mmp16 |
A |
T |
4: 18,054,491 (GRCm39) |
R332S |
probably benign |
Het |
| Mpdz |
T |
A |
4: 81,287,829 (GRCm39) |
T477S |
probably benign |
Het |
| Mrgprb3 |
C |
A |
7: 48,292,844 (GRCm39) |
G236W |
probably damaging |
Het |
| Mrpl47 |
T |
C |
3: 32,784,335 (GRCm39) |
D145G |
probably damaging |
Het |
| Myo6 |
T |
C |
9: 80,149,503 (GRCm39) |
S150P |
probably damaging |
Het |
| Naca |
C |
A |
10: 127,876,048 (GRCm39) |
S360* |
probably null |
Het |
| Or2ak6 |
C |
T |
11: 58,592,913 (GRCm39) |
P129S |
possibly damaging |
Het |
| Phip |
C |
A |
9: 82,757,448 (GRCm39) |
A1575S |
probably benign |
Het |
| Pip4p1 |
T |
C |
14: 51,167,763 (GRCm39) |
E54G |
probably damaging |
Het |
| Plxna2 |
T |
C |
1: 194,326,864 (GRCm39) |
M266T |
probably benign |
Het |
| Ppp1r16a |
C |
T |
15: 76,577,869 (GRCm39) |
Q328* |
probably null |
Het |
| Prag1 |
T |
C |
8: 36,570,421 (GRCm39) |
F335L |
probably benign |
Het |
| Prmt2 |
A |
G |
10: 76,058,399 (GRCm39) |
Y137H |
probably damaging |
Het |
| Psme3ip1 |
C |
A |
8: 95,302,407 (GRCm39) |
C208F |
probably damaging |
Het |
| Ptgds |
T |
C |
2: 25,357,357 (GRCm39) |
D184G |
possibly damaging |
Het |
| Ptpn5 |
T |
C |
7: 46,738,359 (GRCm39) |
Y241C |
probably benign |
Het |
| Pxdn |
G |
A |
12: 30,053,401 (GRCm39) |
V1193M |
probably benign |
Het |
| Raet1e |
T |
A |
10: 22,057,986 (GRCm39) |
|
probably benign |
Het |
| Rttn |
A |
G |
18: 89,001,934 (GRCm39) |
D282G |
probably benign |
Het |
| Sis |
G |
A |
3: 72,819,282 (GRCm39) |
R1425* |
probably null |
Het |
| Slco2a1 |
G |
T |
9: 102,959,582 (GRCm39) |
M559I |
probably damaging |
Het |
| Spata4 |
C |
T |
8: 55,053,879 (GRCm39) |
A15V |
probably damaging |
Het |
| Spop |
T |
C |
11: 95,361,453 (GRCm39) |
S14P |
probably benign |
Het |
| Tcof1 |
A |
T |
18: 60,968,922 (GRCm39) |
D230E |
possibly damaging |
Het |
| Tubgcp5 |
T |
A |
7: 55,455,803 (GRCm39) |
L277* |
probably null |
Het |
| Ubxn10 |
A |
T |
4: 138,447,881 (GRCm39) |
V265E |
probably damaging |
Het |
| Ugt2b36 |
T |
A |
5: 87,239,848 (GRCm39) |
Y179F |
probably benign |
Het |
| Wdr37 |
A |
C |
13: 8,885,288 (GRCm39) |
|
probably null |
Het |
| Zfp593 |
A |
G |
4: 133,972,224 (GRCm39) |
V94A |
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 |
|
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 |
|
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'- TCTTCCAGAATGGTGCAACGGAC -3'
(R):5'- CAAAGCCACTTTCCAGGCAATGTG -3'
Sequencing Primer
(F):5'- TGGTGCAACGGACATTCAC -3'
(R):5'- TGGATGAACACTGTTCTAGCC -3'
|
| Posted On |
2013-11-07 |
Incidental Mutation