Incidental Mutation 'R9706:Adam20'
| ID |
729807 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam20
|
| Ensembl Gene |
ENSMUSG00000046282 |
| Gene Name |
a disintegrin and metallopeptidase domain 20 |
| Synonyms |
4930529F22Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9706 (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 41248490 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 200
(R200H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057794
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056331]
|
| AlphaFold |
Q7M763 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000056331
AA Change: R200H
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000057794
Gene: ENSMUSG00000046282
AA Change: R200H
| 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: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atad3a |
C |
T |
4: 155,834,929 (GRCm39) |
|
probably null |
Het |
| Atg16l1 |
T |
C |
1: 87,713,977 (GRCm39) |
F463L |
possibly damaging |
Het |
| Camsap3 |
C |
T |
8: 3,658,689 (GRCm39) |
T1209I |
possibly damaging |
Het |
| Cldn10 |
T |
A |
14: 119,099,189 (GRCm39) |
M101K |
probably damaging |
Het |
| Crb2 |
G |
A |
2: 37,681,215 (GRCm39) |
G686D |
probably damaging |
Het |
| Creb3 |
T |
A |
4: 43,565,520 (GRCm39) |
L209* |
probably null |
Het |
| Crocc |
C |
A |
4: 140,746,046 (GRCm39) |
R1855L |
possibly damaging |
Het |
| Decr2 |
A |
T |
17: 26,302,869 (GRCm39) |
M169K |
probably benign |
Het |
| Defb22 |
T |
C |
2: 152,327,820 (GRCm39) |
T122A |
unknown |
Het |
| Dnaaf6rt |
A |
C |
1: 31,262,252 (GRCm39) |
E78A |
possibly damaging |
Het |
| Dnah17 |
A |
T |
11: 118,017,026 (GRCm39) |
I238N |
probably damaging |
Het |
| Efcab14 |
T |
A |
4: 115,625,901 (GRCm39) |
S457T |
possibly damaging |
Het |
| Ephb3 |
A |
T |
16: 21,039,193 (GRCm39) |
I604F |
probably damaging |
Het |
| Fam184a |
T |
C |
10: 53,575,249 (GRCm39) |
D120G |
probably damaging |
Het |
| Fcrlb |
T |
A |
1: 170,735,474 (GRCm39) |
T267S |
possibly damaging |
Het |
| Gm15446 |
A |
T |
5: 110,091,161 (GRCm39) |
Q471L |
probably damaging |
Het |
| H2-Q4 |
A |
T |
17: 35,599,129 (GRCm39) |
Y133F |
probably damaging |
Het |
| H2-T24 |
A |
T |
17: 36,325,735 (GRCm39) |
H285Q |
probably benign |
Het |
| Hc |
A |
C |
2: 34,914,196 (GRCm39) |
V837G |
probably damaging |
Het |
| Hmcn2 |
G |
A |
2: 31,305,279 (GRCm39) |
V3151I |
probably benign |
Het |
| Inpp5e |
T |
A |
2: 26,292,126 (GRCm39) |
M311L |
probably benign |
Het |
| Inpp5j |
A |
G |
11: 3,449,960 (GRCm39) |
F644S |
possibly damaging |
Het |
| Krt79 |
T |
G |
15: 101,839,196 (GRCm39) |
E424D |
probably benign |
Het |
| Lingo3 |
A |
T |
10: 80,670,288 (GRCm39) |
F547L |
probably damaging |
Het |
| Lrrc47 |
T |
G |
4: 154,096,487 (GRCm39) |
L94R |
probably damaging |
Het |
| Lrriq1 |
A |
G |
10: 102,881,902 (GRCm39) |
F155S |
|
Het |
| Masp2 |
A |
G |
4: 148,696,597 (GRCm39) |
E398G |
probably benign |
Het |
| Mcm3ap |
C |
T |
10: 76,312,352 (GRCm39) |
S477L |
probably damaging |
Het |
| Mllt10 |
T |
C |
2: 18,151,655 (GRCm39) |
V256A |
possibly damaging |
Het |
| Muc1 |
T |
A |
3: 89,138,888 (GRCm39) |
I499K |
probably benign |
Het |
| Nup50 |
G |
A |
15: 84,811,648 (GRCm39) |
|
probably null |
Het |
| Or13a21 |
A |
T |
7: 139,999,266 (GRCm39) |
I140N |
probably damaging |
Het |
| Or4p20 |
T |
A |
2: 88,253,779 (GRCm39) |
M197L |
probably benign |
Het |
| Or52e18 |
A |
G |
7: 104,609,195 (GRCm39) |
V248A |
probably damaging |
Het |
| Or5ar1 |
T |
A |
2: 85,671,658 (GRCm39) |
H159L |
probably damaging |
Het |
| Pclo |
A |
T |
5: 14,905,683 (GRCm39) |
H4971L |
unknown |
Het |
| Pcsk1 |
G |
T |
13: 75,247,473 (GRCm39) |
|
probably null |
Het |
| Pik3r5 |
C |
A |
11: 68,381,426 (GRCm39) |
T204N |
probably benign |
Het |
| Prrc2b |
T |
C |
2: 32,107,300 (GRCm39) |
V1621A |
probably benign |
Het |
| Ptchd4 |
A |
G |
17: 42,814,806 (GRCm39) |
*902W |
probably null |
Het |
| R3hdm2 |
A |
G |
10: 127,334,298 (GRCm39) |
D907G |
probably benign |
Het |
| R3hdm4 |
A |
T |
10: 79,752,655 (GRCm39) |
|
probably null |
Het |
| Rbpms2 |
C |
T |
9: 65,558,285 (GRCm39) |
A107V |
probably benign |
Het |
| Rgs14 |
G |
A |
13: 55,531,934 (GRCm39) |
E544K |
probably benign |
Het |
| Sacs |
C |
T |
14: 61,445,822 (GRCm39) |
Q2623* |
probably null |
Het |
| Sec16b |
G |
A |
1: 157,378,695 (GRCm39) |
|
probably null |
Het |
| Spire1 |
C |
T |
18: 67,636,508 (GRCm39) |
R386Q |
probably benign |
Het |
| Sqle |
A |
T |
15: 59,201,625 (GRCm39) |
Y492F |
probably damaging |
Het |
| Stk38l |
C |
T |
6: 146,677,104 (GRCm39) |
T427I |
probably benign |
Het |
| Tbx5 |
C |
A |
5: 119,979,909 (GRCm39) |
L152I |
probably benign |
Het |
| Vmn2r101 |
T |
C |
17: 19,809,925 (GRCm39) |
M237T |
probably damaging |
Het |
| Vmn2r58 |
A |
T |
7: 41,510,000 (GRCm39) |
F526I |
probably damaging |
Het |
| Vwf |
G |
A |
6: 125,601,536 (GRCm39) |
R826Q |
|
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 |
|
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 |
|
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'- CCTGTTATGGAGGCTTTCAAGG -3'
(R):5'- GGGCACAAGATTTCCTTCATTC -3'
Sequencing Primer
(F):5'- TGGAGGCTTTCAAGGAATATTACAG -3'
(R):5'- AGATTTCCTTCATTCCACAACTCAAG -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation