Incidental Mutation 'R5452:Adam20'
| ID |
432580 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam20
|
| Ensembl Gene |
ENSMUSG00000046282 |
| Gene Name |
a disintegrin and metallopeptidase domain 20 |
| Synonyms |
4930529F22Rik |
| MMRRC Submission |
042848-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5452 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
41246310-41250340 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 41248801 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 304
(I304F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057794
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056331]
|
| AlphaFold |
Q7M763 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000056331
AA Change: I304F
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000057794
Gene: ENSMUSG00000046282
AA Change: I304F
| 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: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts5 |
A |
G |
16: 85,666,800 (GRCm39) |
|
probably benign |
Het |
| Akr1c6 |
A |
G |
13: 4,504,544 (GRCm39) |
R132G |
probably benign |
Het |
| Ash1l |
T |
A |
3: 88,892,183 (GRCm39) |
M1354K |
possibly damaging |
Het |
| C6 |
T |
C |
15: 4,844,311 (GRCm39) |
I911T |
possibly damaging |
Het |
| Calm2 |
T |
C |
17: 87,743,150 (GRCm39) |
|
probably null |
Het |
| Ccdc80 |
G |
A |
16: 44,938,528 (GRCm39) |
R745Q |
probably damaging |
Het |
| Celsr3 |
T |
C |
9: 108,721,233 (GRCm39) |
I2685T |
possibly damaging |
Het |
| Chkb |
T |
C |
15: 89,313,788 (GRCm39) |
|
probably benign |
Het |
| Dennd5b |
T |
A |
6: 148,943,011 (GRCm39) |
|
probably null |
Het |
| Dnah2 |
T |
C |
11: 69,415,209 (GRCm39) |
Y175C |
probably damaging |
Het |
| Dnajc13 |
A |
G |
9: 104,069,313 (GRCm39) |
S1154P |
probably benign |
Het |
| Ephb4 |
T |
C |
5: 137,359,404 (GRCm39) |
S325P |
probably damaging |
Het |
| Fzd9 |
C |
T |
5: 135,279,714 (GRCm39) |
R57H |
probably damaging |
Het |
| Gemin6 |
T |
G |
17: 80,535,178 (GRCm39) |
V46G |
probably damaging |
Het |
| Gm9949 |
A |
G |
18: 62,313,587 (GRCm39) |
|
probably benign |
Het |
| Gnb4 |
A |
T |
3: 32,643,994 (GRCm39) |
M188K |
probably benign |
Het |
| Hr |
G |
T |
14: 70,794,067 (GRCm39) |
G109V |
probably damaging |
Het |
| Lrp1b |
A |
G |
2: 40,812,328 (GRCm39) |
S2426P |
probably damaging |
Het |
| Map2k4 |
A |
G |
11: 65,610,413 (GRCm39) |
W88R |
probably damaging |
Het |
| Map4 |
C |
T |
9: 109,866,851 (GRCm39) |
|
probably benign |
Het |
| Moxd2 |
C |
T |
6: 40,859,048 (GRCm39) |
|
probably null |
Het |
| Mrgprx1 |
T |
C |
7: 47,671,556 (GRCm39) |
I64V |
probably benign |
Het |
| Mtrex |
T |
C |
13: 113,049,715 (GRCm39) |
S232G |
probably null |
Het |
| Or5p68 |
A |
C |
7: 107,945,312 (GRCm39) |
I292S |
probably damaging |
Het |
| Padi2 |
T |
C |
4: 140,659,382 (GRCm39) |
F229S |
probably benign |
Het |
| Pappa2 |
T |
C |
1: 158,666,172 (GRCm39) |
N1136S |
probably benign |
Het |
| Pcdhb1 |
A |
T |
18: 37,398,811 (GRCm39) |
N254I |
possibly damaging |
Het |
| Plcb2 |
A |
G |
2: 118,548,727 (GRCm39) |
Y400H |
probably damaging |
Het |
| Plce1 |
A |
C |
19: 38,608,926 (GRCm39) |
T412P |
probably benign |
Het |
| Prg4 |
T |
C |
1: 150,331,519 (GRCm39) |
|
probably benign |
Het |
| Prkdc |
A |
G |
16: 15,586,501 (GRCm39) |
N2510S |
possibly damaging |
Het |
| Psme4 |
T |
A |
11: 30,741,168 (GRCm39) |
S107T |
probably benign |
Het |
| Resf1 |
C |
A |
6: 149,230,611 (GRCm39) |
S1219* |
probably null |
Het |
| Rint1 |
G |
T |
5: 23,999,363 (GRCm39) |
A51S |
probably benign |
Het |
| Rsad1 |
T |
A |
11: 94,434,515 (GRCm39) |
R306S |
probably damaging |
Het |
| Sema3c |
T |
G |
5: 17,922,068 (GRCm39) |
|
probably null |
Het |
| Sirt3 |
G |
A |
7: 140,444,928 (GRCm39) |
T290I |
probably damaging |
Het |
| Spam1 |
G |
A |
6: 24,800,731 (GRCm39) |
G490D |
probably benign |
Het |
| Speer4f2 |
C |
T |
5: 17,581,498 (GRCm39) |
R147W |
possibly damaging |
Het |
| Sppl2c |
A |
T |
11: 104,078,126 (GRCm39) |
I309L |
probably benign |
Het |
| Srxn1 |
G |
A |
2: 151,947,799 (GRCm39) |
V66M |
probably damaging |
Het |
| St3gal4 |
C |
T |
9: 34,964,752 (GRCm39) |
R152H |
probably damaging |
Het |
| Sv2c |
A |
T |
13: 96,114,591 (GRCm39) |
F532I |
probably damaging |
Het |
| Tacc1 |
C |
A |
8: 25,654,431 (GRCm39) |
K705N |
probably null |
Het |
| Tekt3 |
G |
T |
11: 62,985,619 (GRCm39) |
S475I |
probably damaging |
Het |
| Tjap1 |
T |
C |
17: 46,571,101 (GRCm39) |
T139A |
probably damaging |
Het |
| Tnfrsf8 |
T |
A |
4: 145,019,214 (GRCm39) |
K207M |
possibly damaging |
Het |
| Tnn |
T |
C |
1: 159,937,831 (GRCm39) |
T965A |
probably benign |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Trmt2a |
A |
G |
16: 18,068,814 (GRCm39) |
H270R |
probably damaging |
Het |
| Ttc21a |
T |
C |
9: 119,780,037 (GRCm39) |
L448P |
probably benign |
Het |
| Ttll4 |
C |
A |
1: 74,718,480 (GRCm39) |
N110K |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
| Tut7 |
A |
G |
13: 59,948,471 (GRCm39) |
Y215H |
probably damaging |
Het |
| Ubr1 |
A |
G |
2: 120,698,783 (GRCm39) |
Y1595H |
possibly damaging |
Het |
| Unc45a |
G |
A |
7: 79,978,787 (GRCm39) |
P621S |
probably damaging |
Het |
| Xrn2 |
A |
T |
2: 146,866,633 (GRCm39) |
|
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 |
|
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 |
|
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'- GTTGACTGTGAGCGAATTCG -3'
(R):5'- AGCTGCTATCATGCTCCATACC -3'
Sequencing Primer
(F):5'- CACACGTGTTAGTGGAAGTATTC -3'
(R):5'- CCAGATTATGACCAATCTCATGTGC -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation