Incidental Mutation 'PIT4151001:Adam20'
| ID |
557033 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam20
|
| Ensembl Gene |
ENSMUSG00000046282 |
| Gene Name |
a disintegrin and metallopeptidase domain 20 |
| Synonyms |
4930529F22Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
PIT4151001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
41246310-41250340 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 41248081 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 64
(V64I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057794
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056331]
|
| AlphaFold |
Q7M763 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000056331
AA Change: V64I
PolyPhen 2
Score 0.585 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000057794
Gene: ENSMUSG00000046282
AA Change: V64I
| 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: 92.7%
- 3x: 90.4%
- 10x: 84.6%
- 20x: 72.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
T |
C |
3: 121,930,670 (GRCm39) |
L1389P |
probably damaging |
Het |
| Acot10 |
C |
T |
15: 20,666,684 (GRCm39) |
G19D |
probably damaging |
Het |
| Ak6 |
T |
A |
13: 100,791,603 (GRCm39) |
D15E |
probably damaging |
Het |
| Atp1a2 |
A |
G |
1: 172,118,288 (GRCm39) |
Y129H |
probably damaging |
Het |
| Caskin1 |
C |
T |
17: 24,721,193 (GRCm39) |
T511I |
probably damaging |
Het |
| Casp9 |
C |
T |
4: 141,521,259 (GRCm39) |
R32* |
probably null |
Het |
| Ccdc40 |
A |
G |
11: 119,133,277 (GRCm39) |
E445G |
probably damaging |
Het |
| Cct8 |
T |
C |
16: 87,284,545 (GRCm39) |
E273G |
probably damaging |
Het |
| Chd5 |
G |
A |
4: 152,462,986 (GRCm39) |
V1380I |
probably damaging |
Het |
| Coro2b |
C |
T |
9: 62,336,286 (GRCm39) |
G272D |
probably damaging |
Het |
| Cyp4a10 |
C |
A |
4: 115,382,072 (GRCm39) |
H251Q |
probably damaging |
Het |
| Dgki |
A |
T |
6: 37,040,916 (GRCm39) |
H298Q |
probably benign |
Het |
| Dnmt3b |
T |
G |
2: 153,526,399 (GRCm39) |
|
probably null |
Het |
| Dzip1 |
A |
G |
14: 119,160,200 (GRCm39) |
F3L |
probably damaging |
Het |
| Egf |
A |
G |
3: 129,496,198 (GRCm39) |
S807P |
probably benign |
Het |
| Emc10 |
C |
T |
7: 44,142,627 (GRCm39) |
R105H |
|
Het |
| Enthd1 |
T |
C |
15: 80,336,937 (GRCm39) |
E499G |
probably damaging |
Het |
| Eps8l1 |
G |
A |
7: 4,474,414 (GRCm39) |
S295N |
probably benign |
Het |
| Fer1l5 |
T |
A |
1: 36,450,728 (GRCm39) |
M1242K |
probably benign |
Het |
| Gm3415 |
A |
G |
5: 146,493,079 (GRCm39) |
R36G |
probably benign |
Het |
| Gm5797 |
C |
A |
14: 7,330,318 (GRCm38) |
M114I |
possibly damaging |
Het |
| Gmppa |
A |
T |
1: 75,418,468 (GRCm39) |
R284* |
probably null |
Het |
| Homer1 |
G |
C |
13: 93,485,724 (GRCm39) |
K118N |
probably damaging |
Het |
| Ivl |
TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG |
TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG |
3: 92,479,608 (GRCm39) |
|
probably benign |
Het |
| Kcnc4 |
G |
A |
3: 107,366,019 (GRCm39) |
A63V |
probably damaging |
Het |
| Kif11 |
T |
A |
19: 37,373,045 (GRCm39) |
I88N |
probably damaging |
Het |
| Krba1 |
T |
C |
6: 48,379,831 (GRCm39) |
F9S |
probably damaging |
Het |
| Nckap1 |
A |
G |
2: 80,350,714 (GRCm39) |
|
probably null |
Het |
| Nox4 |
A |
T |
7: 86,954,097 (GRCm39) |
Y134F |
probably benign |
Het |
| Or4a79 |
T |
A |
2: 89,552,237 (GRCm39) |
T73S |
probably benign |
Het |
| Or51f23c-ps1 |
T |
C |
7: 102,431,465 (GRCm39) |
S261P |
probably benign |
Het |
| Or52e15 |
A |
G |
7: 104,645,424 (GRCm39) |
L229P |
probably damaging |
Het |
| Or5m13b |
T |
A |
2: 85,754,386 (GRCm39) |
M258K |
probably damaging |
Het |
| Or5m8 |
T |
C |
2: 85,822,538 (GRCm39) |
C126R |
probably damaging |
Het |
| Or8k22 |
G |
T |
2: 86,163,173 (GRCm39) |
H176N |
possibly damaging |
Het |
| Pcdh17 |
G |
T |
14: 84,684,798 (GRCm39) |
V422L |
probably benign |
Het |
| Pcx |
T |
A |
19: 4,653,157 (GRCm39) |
V275E |
probably damaging |
Het |
| Pde6h |
A |
T |
6: 136,938,185 (GRCm39) |
M53L |
possibly damaging |
Het |
| Phactr3 |
A |
T |
2: 177,975,861 (GRCm39) |
E535D |
probably damaging |
Het |
| Pkn3 |
C |
A |
2: 29,980,539 (GRCm39) |
T810N |
probably damaging |
Het |
| Pnpla5 |
T |
C |
15: 84,002,827 (GRCm39) |
E252G |
probably damaging |
Het |
| Pramel21 |
T |
A |
4: 143,342,722 (GRCm39) |
C276* |
probably null |
Het |
| Psg17 |
A |
G |
7: 18,548,530 (GRCm39) |
S414P |
probably benign |
Het |
| Pzp |
T |
A |
6: 128,502,259 (GRCm39) |
Q30L |
probably benign |
Het |
| Reln |
A |
T |
5: 22,491,894 (GRCm39) |
F113I |
possibly damaging |
Het |
| Ret |
T |
C |
6: 118,141,702 (GRCm39) |
D975G |
probably benign |
Het |
| Sarnp |
A |
G |
10: 128,713,235 (GRCm39) |
I209V |
probably benign |
Het |
| Sorl1 |
A |
T |
9: 41,879,918 (GRCm39) |
V2210D |
probably damaging |
Het |
| Stard9 |
C |
T |
2: 120,533,237 (GRCm39) |
Q3165* |
probably null |
Het |
| Tmem64 |
A |
T |
4: 15,283,159 (GRCm39) |
I319F |
probably damaging |
Het |
| Vmn1r176 |
A |
T |
7: 23,534,808 (GRCm39) |
V115D |
probably damaging |
Het |
| Vmn1r2 |
A |
G |
4: 3,172,623 (GRCm39) |
T181A |
probably benign |
Het |
| Vmn2r2 |
T |
C |
3: 64,024,334 (GRCm39) |
E749G |
possibly damaging |
Het |
| Vps35 |
G |
A |
8: 86,010,677 (GRCm39) |
T222I |
possibly damaging |
Het |
| Zfp532 |
A |
G |
18: 65,757,485 (GRCm39) |
T473A |
probably damaging |
Het |
| Zfyve16 |
A |
G |
13: 92,657,712 (GRCm39) |
V733A |
probably damaging |
Het |
| Zranb1 |
T |
A |
7: 132,551,723 (GRCm39) |
S125T |
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 |
|
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 |
|
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'- ATTAAAAGCCAGCACTGCATG -3'
(R):5'- GGCCATGGTAGTAGCAATCATTC -3'
Sequencing Primer
(F):5'- AACACAAAGGGCATCCTCCTTTG -3'
(R):5'- ATCATTCTGGACATAAGGCTGGTCC -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation