Incidental Mutation 'IGL03090:Adam20'
| ID |
418313 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL03090
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
41246310-41250340 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 41247965 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 25
(Y25C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057794
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056331]
|
| AlphaFold |
Q7M763 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000056331
AA Change: Y25C
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000057794
Gene: ENSMUSG00000046282
AA Change: Y25C
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210152
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agap3 |
A |
C |
5: 24,706,204 (GRCm39) |
T823P |
possibly damaging |
Het |
| Arap3 |
T |
C |
18: 38,122,165 (GRCm39) |
E641G |
probably benign |
Het |
| Armc6 |
C |
T |
8: 70,684,004 (GRCm39) |
R16Q |
probably benign |
Het |
| Asb15 |
T |
A |
6: 24,567,185 (GRCm39) |
I502K |
possibly damaging |
Het |
| Atp8b3 |
T |
A |
10: 80,366,438 (GRCm39) |
N275I |
probably damaging |
Het |
| Calr |
G |
A |
8: 85,573,373 (GRCm39) |
P19S |
possibly damaging |
Het |
| Cdc6 |
T |
A |
11: 98,810,122 (GRCm39) |
L477* |
probably null |
Het |
| Clba1 |
T |
C |
12: 112,779,340 (GRCm39) |
|
probably null |
Het |
| Cnnm4 |
A |
G |
1: 36,510,952 (GRCm39) |
D60G |
probably benign |
Het |
| Col12a1 |
G |
T |
9: 79,585,652 (GRCm39) |
Q1242K |
probably damaging |
Het |
| Dusp18 |
T |
A |
11: 3,847,466 (GRCm39) |
I152N |
probably damaging |
Het |
| Eef1akmt1 |
T |
C |
14: 57,795,543 (GRCm39) |
T69A |
probably damaging |
Het |
| Efhb |
T |
C |
17: 53,769,958 (GRCm39) |
Q117R |
probably benign |
Het |
| Fancd2 |
T |
A |
6: 113,514,558 (GRCm39) |
|
probably null |
Het |
| Fat3 |
C |
T |
9: 16,288,535 (GRCm39) |
W329* |
probably null |
Het |
| Frem3 |
A |
G |
8: 81,344,858 (GRCm39) |
Y1727C |
probably benign |
Het |
| Fut2 |
C |
T |
7: 45,300,193 (GRCm39) |
G193E |
possibly damaging |
Het |
| Gatb |
C |
A |
3: 85,526,330 (GRCm39) |
|
probably benign |
Het |
| Gpr33 |
A |
T |
12: 52,070,809 (GRCm39) |
S77T |
probably damaging |
Het |
| Gramd1c |
A |
T |
16: 43,802,463 (GRCm39) |
D649E |
probably benign |
Het |
| Herc2 |
T |
A |
7: 55,854,221 (GRCm39) |
L3745H |
probably damaging |
Het |
| Klk1b11 |
T |
A |
7: 43,426,977 (GRCm39) |
M87K |
probably benign |
Het |
| Krt39 |
T |
G |
11: 99,409,833 (GRCm39) |
|
probably benign |
Het |
| Lamc3 |
T |
A |
2: 31,798,710 (GRCm39) |
|
probably benign |
Het |
| Lars2 |
T |
G |
9: 123,285,025 (GRCm39) |
M786R |
probably damaging |
Het |
| Lmcd1 |
T |
A |
6: 112,287,460 (GRCm39) |
S49T |
probably benign |
Het |
| Lrba |
T |
C |
3: 86,680,448 (GRCm39) |
Y2689H |
probably benign |
Het |
| Map3k6 |
T |
C |
4: 132,970,677 (GRCm39) |
V188A |
probably benign |
Het |
| Mbd6 |
A |
C |
10: 127,123,013 (GRCm39) |
L49W |
probably damaging |
Het |
| Myo5a |
A |
T |
9: 75,028,115 (GRCm39) |
Y100F |
probably damaging |
Het |
| Myo9a |
T |
A |
9: 59,801,418 (GRCm39) |
|
probably benign |
Het |
| Ncoa7 |
T |
C |
10: 30,538,396 (GRCm39) |
D663G |
probably damaging |
Het |
| Nup214 |
A |
T |
2: 31,908,254 (GRCm39) |
M1075L |
probably benign |
Het |
| Pkd1l3 |
C |
A |
8: 110,382,165 (GRCm39) |
Y240* |
probably null |
Het |
| Pomk |
T |
A |
8: 26,473,338 (GRCm39) |
N205I |
probably damaging |
Het |
| Sdr16c5 |
A |
G |
4: 4,006,575 (GRCm39) |
|
probably benign |
Het |
| Setd1a |
A |
G |
7: 127,385,672 (GRCm39) |
E250G |
possibly damaging |
Het |
| Slc26a6 |
A |
G |
9: 108,737,890 (GRCm39) |
E541G |
probably benign |
Het |
| Slc4a3 |
A |
G |
1: 75,531,661 (GRCm39) |
E876G |
probably benign |
Het |
| Srrm4 |
A |
G |
5: 116,587,643 (GRCm39) |
|
probably benign |
Het |
| Stx12 |
A |
G |
4: 132,590,540 (GRCm39) |
V119A |
probably benign |
Het |
| Tmem8b |
T |
A |
4: 43,689,721 (GRCm39) |
S333T |
probably damaging |
Het |
| Usp31 |
T |
C |
7: 121,278,753 (GRCm39) |
|
probably benign |
Het |
| Utp18 |
T |
C |
11: 93,759,245 (GRCm39) |
R410G |
probably damaging |
Het |
| Vmn1r172 |
T |
C |
7: 23,359,463 (GRCm39) |
I116T |
probably damaging |
Het |
| Vwa8 |
T |
A |
14: 79,172,041 (GRCm39) |
L274Q |
possibly damaging |
Het |
| Wdfy3 |
A |
T |
5: 102,014,142 (GRCm39) |
F2655I |
probably damaging |
Het |
| Zfp423 |
A |
T |
8: 88,508,071 (GRCm39) |
Y737N |
probably damaging |
Het |
| Zyx |
C |
A |
6: 42,334,276 (GRCm39) |
S500* |
probably null |
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 |
|
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 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation