Incidental Mutation 'R4829:Adamts20'
| ID |
372704 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adamts20
|
| Ensembl Gene |
ENSMUSG00000022449 |
| Gene Name |
ADAM metallopeptidase with thrombospondin type 1 motif 20 |
| Synonyms |
ADAMTS-20, bt |
| MMRRC Submission |
042445-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.233)
|
| Stock # |
R4829 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
94166177-94329966 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 94224277 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 1184
(D1184E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121696
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035342]
[ENSMUST00000155907]
|
| AlphaFold |
P59511 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035342
AA Change: D1184E
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000036330
Gene: ENSMUSG00000022449
AA Change: D1184E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
41 |
186 |
1.4e-30 |
PFAM |
|
Pfam:Reprolysin_5
|
253 |
445 |
3.6e-13 |
PFAM |
|
Pfam:Reprolysin_4
|
253 |
460 |
1.1e-7 |
PFAM |
|
Pfam:Reprolysin
|
255 |
464 |
1.5e-26 |
PFAM |
|
Pfam:Reprolysin_2
|
272 |
454 |
1.8e-10 |
PFAM |
|
Pfam:Reprolysin_3
|
276 |
410 |
5.8e-10 |
PFAM |
|
TSP1
|
556 |
608 |
7.73e-11 |
SMART |
|
Pfam:ADAM_spacer1
|
718 |
836 |
2.6e-34 |
PFAM |
|
TSP1
|
846 |
901 |
1.47e-1 |
SMART |
|
TSP1
|
904 |
958 |
2.83e0 |
SMART |
|
TSP1
|
965 |
1019 |
4.28e-4 |
SMART |
|
TSP1
|
1020 |
1074 |
1.89e-5 |
SMART |
|
TSP1
|
1075 |
1131 |
4.87e-8 |
SMART |
|
TSP1
|
1152 |
1201 |
6.05e-4 |
SMART |
|
TSP1
|
1204 |
1260 |
1.22e-8 |
SMART |
|
TSP1
|
1304 |
1356 |
1.37e-2 |
SMART |
|
TSP1
|
1357 |
1411 |
6e-8 |
SMART |
|
TSP1
|
1416 |
1470 |
1.69e-2 |
SMART |
|
TSP1
|
1471 |
1526 |
2.3e0 |
SMART |
|
TSP1
|
1530 |
1579 |
1.23e0 |
SMART |
|
TSP1
|
1653 |
1706 |
5.27e-4 |
SMART |
|
Pfam:GON
|
1708 |
1905 |
5.8e-80 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155907
AA Change: D1184E
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000121696
Gene: ENSMUSG00000022449
AA Change: D1184E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
40 |
186 |
1e-31 |
PFAM |
|
Pfam:Reprolysin_5
|
253 |
445 |
2.7e-13 |
PFAM |
|
Pfam:Reprolysin_4
|
253 |
460 |
7.2e-8 |
PFAM |
|
Pfam:Reprolysin
|
255 |
464 |
2.4e-28 |
PFAM |
|
Pfam:Reprolysin_2
|
272 |
454 |
4e-10 |
PFAM |
|
Pfam:Reprolysin_3
|
276 |
410 |
1.1e-10 |
PFAM |
|
TSP1
|
556 |
608 |
7.73e-11 |
SMART |
|
Pfam:ADAM_spacer1
|
718 |
836 |
2e-34 |
PFAM |
|
TSP1
|
846 |
901 |
1.47e-1 |
SMART |
|
TSP1
|
904 |
958 |
2.83e0 |
SMART |
|
TSP1
|
965 |
1019 |
4.28e-4 |
SMART |
|
TSP1
|
1020 |
1074 |
1.89e-5 |
SMART |
|
TSP1
|
1075 |
1131 |
4.87e-8 |
SMART |
|
TSP1
|
1152 |
1201 |
6.05e-4 |
SMART |
|
TSP1
|
1204 |
1260 |
1.22e-8 |
SMART |
|
TSP1
|
1304 |
1356 |
1.37e-2 |
SMART |
|
TSP1
|
1357 |
1411 |
6e-8 |
SMART |
|
| Meta Mutation Damage Score |
0.0631 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.8%
|
| Validation Efficiency |
98% (109/111) |
| MGI Phenotype |
FUNCTION: This gene encodes a member of "a disintegrin and metalloproteinase with thrombospondin motifs" (ADAMTS) family of multi-domain matrix-associated metalloendopeptidases that have diverse roles in tissue morphogenesis and pathophysiological remodeling, in inflammation and in vascular biology. The encoded preproprotein undergoes proteolytic processing to generate an active protease. Certain mutations in this gene cause defective development of neural crest-derived melanoblasts resulting in a "belted" phenotype that is characterized by white spots in the lumbar region. [provided by RefSeq, Jul 2016]
PHENOTYPE: Mice homozygous for spontaneous or ENU-induced mutations exhibit abnormal coat/hair pigmentation, including a typical white belt phenotype. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(17) : Targeted, other(1) Spontaneous(11) Chemically induced(5) |
| Other mutations in this stock |
Total: 95 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
T |
C |
3: 137,774,780 (GRCm39) |
V1323A |
probably damaging |
Het |
| Abcb1a |
T |
C |
5: 8,773,214 (GRCm39) |
L814P |
probably damaging |
Het |
| Acat1 |
C |
A |
9: 53,502,756 (GRCm39) |
G191V |
probably damaging |
Het |
| Acsbg3 |
A |
G |
17: 57,190,500 (GRCm39) |
|
probably null |
Het |
| Adss1 |
T |
C |
12: 112,601,147 (GRCm39) |
L283P |
probably damaging |
Het |
| Arid4a |
A |
G |
12: 71,070,272 (GRCm39) |
|
probably null |
Het |
| Arid4b |
T |
A |
13: 14,359,023 (GRCm39) |
D599E |
probably benign |
Het |
| AW146154 |
T |
C |
7: 41,130,057 (GRCm39) |
K353R |
possibly damaging |
Het |
| Axdnd1 |
G |
T |
1: 156,204,216 (GRCm39) |
R547S |
possibly damaging |
Het |
| Bcat1 |
A |
T |
6: 144,961,201 (GRCm39) |
F134Y |
probably damaging |
Het |
| Camk2d |
C |
A |
3: 126,573,646 (GRCm39) |
|
probably benign |
Het |
| Catsperg2 |
T |
G |
7: 29,400,550 (GRCm39) |
K268T |
probably damaging |
Het |
| Ccar1 |
A |
C |
10: 62,581,114 (GRCm39) |
F1103L |
unknown |
Het |
| Ccdc141 |
T |
A |
2: 76,905,260 (GRCm39) |
E395D |
probably damaging |
Het |
| Cdc37l1 |
A |
G |
19: 28,967,983 (GRCm39) |
T16A |
probably benign |
Het |
| Cdca2 |
T |
A |
14: 67,931,202 (GRCm39) |
|
probably null |
Het |
| Cfap96 |
T |
C |
8: 46,420,952 (GRCm39) |
I159V |
probably damaging |
Het |
| Cntn5 |
T |
G |
9: 9,976,288 (GRCm39) |
K219Q |
probably damaging |
Het |
| Col23a1 |
C |
A |
11: 51,448,413 (GRCm39) |
A202E |
unknown |
Het |
| Csmd1 |
G |
A |
8: 16,177,310 (GRCm39) |
L1318F |
probably damaging |
Het |
| Csnk1g3 |
C |
T |
18: 54,028,895 (GRCm39) |
A16V |
possibly damaging |
Het |
| Cspg4b |
A |
G |
13: 113,504,696 (GRCm39) |
I1942V |
probably benign |
Het |
| Dab2 |
A |
G |
15: 6,454,162 (GRCm39) |
D224G |
probably damaging |
Het |
| Ddr1 |
A |
T |
17: 35,996,005 (GRCm39) |
C625S |
probably damaging |
Het |
| Dennd4a |
T |
C |
9: 64,796,338 (GRCm39) |
V788A |
probably damaging |
Het |
| Dgcr2 |
T |
C |
16: 17,660,617 (GRCm39) |
E402G |
possibly damaging |
Het |
| Dhcr7 |
T |
G |
7: 143,391,654 (GRCm39) |
I81S |
probably damaging |
Het |
| Exd1 |
C |
T |
2: 119,350,807 (GRCm39) |
A485T |
probably benign |
Het |
| Fat1 |
C |
T |
8: 45,489,199 (GRCm39) |
T3467I |
probably damaging |
Het |
| Fblim1 |
T |
C |
4: 141,312,020 (GRCm39) |
E235G |
probably damaging |
Het |
| Fbxo38 |
T |
A |
18: 62,651,662 (GRCm39) |
M548L |
probably benign |
Het |
| Fstl5 |
T |
C |
3: 76,229,489 (GRCm39) |
Y97H |
probably damaging |
Het |
| Glb1l |
A |
T |
1: 75,176,994 (GRCm39) |
S481T |
probably damaging |
Het |
| Gp2 |
A |
T |
7: 119,056,407 (GRCm39) |
V22E |
possibly damaging |
Het |
| Grin1 |
A |
G |
2: 25,208,736 (GRCm39) |
S55P |
possibly damaging |
Het |
| Herc2 |
A |
G |
7: 55,756,240 (GRCm39) |
D760G |
probably benign |
Het |
| Hpn |
A |
G |
7: 30,798,300 (GRCm39) |
|
probably benign |
Het |
| Hsf2 |
T |
C |
10: 57,372,266 (GRCm39) |
V73A |
probably damaging |
Het |
| Ighv1-42 |
T |
C |
12: 114,900,788 (GRCm39) |
Y80C |
probably benign |
Het |
| Ighv1-64 |
T |
C |
12: 115,471,346 (GRCm39) |
K57R |
probably benign |
Het |
| Klc1 |
T |
C |
12: 111,762,037 (GRCm39) |
I569T |
probably damaging |
Het |
| Klra3 |
T |
G |
6: 130,300,579 (GRCm39) |
K263N |
probably benign |
Het |
| Lrcol1 |
C |
A |
5: 110,502,393 (GRCm39) |
H90N |
probably benign |
Het |
| Mamdc4 |
T |
C |
2: 25,455,368 (GRCm39) |
E921G |
possibly damaging |
Het |
| Mark1 |
G |
A |
1: 184,637,724 (GRCm39) |
R622W |
possibly damaging |
Het |
| Mdga1 |
A |
G |
17: 30,065,343 (GRCm39) |
S696P |
possibly damaging |
Het |
| Mmp1b |
C |
T |
9: 7,370,729 (GRCm39) |
|
probably null |
Het |
| Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
| Mtnr1a |
T |
C |
8: 45,538,652 (GRCm39) |
|
probably benign |
Het |
| Myo5a |
T |
C |
9: 75,043,689 (GRCm39) |
I226T |
probably damaging |
Het |
| Ncoa6 |
G |
T |
2: 155,257,147 (GRCm39) |
P799T |
probably damaging |
Het |
| Npc1l1 |
C |
T |
11: 6,164,010 (GRCm39) |
|
probably null |
Het |
| Nxph3 |
T |
C |
11: 95,402,321 (GRCm39) |
E31G |
probably benign |
Het |
| Obscn |
T |
C |
11: 58,945,072 (GRCm39) |
I4649V |
probably null |
Het |
| Or10d4b |
A |
T |
9: 39,534,734 (GRCm39) |
H103L |
probably damaging |
Het |
| Or8b12b |
G |
T |
9: 37,684,243 (GRCm39) |
C96F |
probably damaging |
Het |
| Or8g35 |
A |
T |
9: 39,381,663 (GRCm39) |
Y120N |
probably damaging |
Het |
| Or8h10 |
G |
A |
2: 86,808,918 (GRCm39) |
S74L |
probably damaging |
Het |
| P3h3 |
G |
A |
6: 124,818,601 (GRCm39) |
|
probably benign |
Het |
| Pcnx2 |
A |
T |
8: 126,587,797 (GRCm39) |
|
probably null |
Het |
| Pirb |
C |
T |
7: 3,720,602 (GRCm39) |
G299S |
probably benign |
Het |
| Pla2g4d |
A |
G |
2: 120,097,224 (GRCm39) |
S792P |
probably damaging |
Het |
| Plppr4 |
A |
T |
3: 117,129,240 (GRCm39) |
L76M |
possibly damaging |
Het |
| Ppp2r3d |
A |
T |
9: 101,089,709 (GRCm39) |
S205T |
possibly damaging |
Het |
| Prkdc |
G |
A |
16: 15,519,939 (GRCm39) |
D1126N |
possibly damaging |
Het |
| Prrt4 |
G |
A |
6: 29,177,181 (GRCm39) |
S196L |
probably benign |
Het |
| Ptpn21 |
A |
C |
12: 98,655,555 (GRCm39) |
S471A |
probably damaging |
Het |
| Ptprk |
C |
A |
10: 28,456,480 (GRCm39) |
S9* |
probably null |
Het |
| Rassf4 |
A |
T |
6: 116,622,103 (GRCm39) |
I163K |
possibly damaging |
Het |
| Rgs22 |
C |
A |
15: 36,104,034 (GRCm39) |
R142S |
probably damaging |
Het |
| Rit2 |
C |
A |
18: 31,345,726 (GRCm39) |
L73F |
probably damaging |
Het |
| Rrbp1 |
A |
C |
2: 143,831,607 (GRCm39) |
S187A |
probably benign |
Het |
| Rspo2 |
A |
T |
15: 42,956,583 (GRCm39) |
Y83* |
probably null |
Het |
| Scn5a |
C |
T |
9: 119,363,773 (GRCm39) |
V456M |
probably benign |
Het |
| Scn9a |
T |
A |
2: 66,382,057 (GRCm39) |
H290L |
probably benign |
Het |
| Smarca4 |
T |
C |
9: 21,550,623 (GRCm39) |
I452T |
probably damaging |
Het |
| Smc2 |
T |
A |
4: 52,449,612 (GRCm39) |
I198K |
probably damaging |
Het |
| Smim14 |
G |
A |
5: 65,617,946 (GRCm39) |
|
probably benign |
Het |
| Spg11 |
A |
C |
2: 121,938,936 (GRCm39) |
N339K |
probably benign |
Het |
| Spta1 |
A |
G |
1: 174,065,493 (GRCm39) |
E2014G |
probably benign |
Het |
| Stk4 |
T |
C |
2: 163,941,747 (GRCm39) |
|
probably null |
Het |
| Sypl1 |
C |
T |
12: 33,017,645 (GRCm39) |
T121M |
probably damaging |
Het |
| Tas2r120 |
T |
A |
6: 132,634,331 (GRCm39) |
F138I |
probably benign |
Het |
| Tcstv4 |
G |
A |
13: 120,769,926 (GRCm39) |
C82Y |
possibly damaging |
Het |
| Tet2 |
A |
C |
3: 133,182,381 (GRCm39) |
C1194W |
possibly damaging |
Het |
| Tex29 |
T |
C |
8: 11,905,668 (GRCm39) |
|
probably benign |
Het |
| Tnfrsf22 |
T |
A |
7: 143,197,067 (GRCm39) |
T91S |
possibly damaging |
Het |
| Tnik |
A |
T |
3: 28,593,690 (GRCm39) |
|
probably benign |
Het |
| Tnr |
A |
T |
1: 159,685,974 (GRCm39) |
I402F |
probably benign |
Het |
| Unc93b1 |
A |
T |
19: 3,994,293 (GRCm39) |
S475C |
probably damaging |
Het |
| Utrn |
T |
A |
10: 12,539,205 (GRCm39) |
E1937D |
probably benign |
Het |
| Vmn1r227 |
A |
T |
17: 20,955,927 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r101 |
G |
A |
17: 19,832,229 (GRCm39) |
V742I |
probably benign |
Het |
| Vmn2r81 |
T |
C |
10: 79,083,635 (GRCm39) |
L3P |
possibly damaging |
Het |
| Zfp882 |
T |
G |
8: 72,668,233 (GRCm39) |
H353Q |
probably damaging |
Het |
|
| Other mutations in Adamts20 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00433:Adamts20
|
APN |
15 |
94,292,522 (GRCm39) |
missense |
probably benign |
|
|
IGL00491:Adamts20
|
APN |
15 |
94,171,113 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL00502:Adamts20
|
APN |
15 |
94,301,278 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00672:Adamts20
|
APN |
15 |
94,238,986 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00840:Adamts20
|
APN |
15 |
94,180,363 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00909:Adamts20
|
APN |
15 |
94,277,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01101:Adamts20
|
APN |
15 |
94,241,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01137:Adamts20
|
APN |
15 |
94,292,492 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01457:Adamts20
|
APN |
15 |
94,229,329 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01685:Adamts20
|
APN |
15 |
94,301,327 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL01949:Adamts20
|
APN |
15 |
94,223,987 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL02525:Adamts20
|
APN |
15 |
94,180,959 (GRCm39) |
splice site |
probably null |
|
|
IGL03088:Adamts20
|
APN |
15 |
94,227,795 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03175:Adamts20
|
APN |
15 |
94,171,136 (GRCm39) |
nonsense |
probably null |
|
|
belt
|
UTSW |
15 |
94,243,871 (GRCm39) |
missense |
probably damaging |
1.00 |
|
buckeye
|
UTSW |
15 |
94,238,968 (GRCm39) |
missense |
probably damaging |
1.00 |
|
jack_white
|
UTSW |
15 |
0 () |
unclassified |
|
|
|
meowth
|
UTSW |
15 |
94,229,339 (GRCm39) |
missense |
probably damaging |
1.00 |
|
nidoking
|
UTSW |
15 |
94,301,326 (GRCm39) |
missense |
probably damaging |
1.00 |
|
panda
|
UTSW |
15 |
94,224,580 (GRCm39) |
intron |
probably benign |
|
|
pikachu
|
UTSW |
15 |
94,243,871 (GRCm39) |
missense |
probably damaging |
1.00 |
|
poliwag
|
UTSW |
15 |
94,292,503 (GRCm39) |
nonsense |
probably null |
|
|
splotch2
|
UTSW |
15 |
94,233,442 (GRCm39) |
intron |
probably benign |
|
|
wash
|
UTSW |
15 |
94,245,551 (GRCm39) |
nonsense |
probably null |
|
|
whitebelly
|
UTSW |
15 |
0 () |
unclassified |
|
|
|
whopper
|
UTSW |
15 |
94,245,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0483:Adamts20
|
UTSW |
15 |
94,251,452 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0514:Adamts20
|
UTSW |
15 |
94,168,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0568:Adamts20
|
UTSW |
15 |
94,189,594 (GRCm39) |
splice site |
probably benign |
|
|
R0730:Adamts20
|
UTSW |
15 |
94,245,571 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0973:Adamts20
|
UTSW |
15 |
94,184,252 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1339:Adamts20
|
UTSW |
15 |
94,220,777 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1721:Adamts20
|
UTSW |
15 |
94,236,340 (GRCm39) |
missense |
probably benign |
0.44 |
|
R1809:Adamts20
|
UTSW |
15 |
94,238,968 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1832:Adamts20
|
UTSW |
15 |
94,184,225 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1846:Adamts20
|
UTSW |
15 |
94,243,871 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1867:Adamts20
|
UTSW |
15 |
94,236,340 (GRCm39) |
missense |
probably benign |
0.44 |
|
R1875:Adamts20
|
UTSW |
15 |
94,229,277 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1930:Adamts20
|
UTSW |
15 |
94,301,891 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1931:Adamts20
|
UTSW |
15 |
94,301,891 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1932:Adamts20
|
UTSW |
15 |
94,301,891 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2001:Adamts20
|
UTSW |
15 |
94,245,599 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R2116:Adamts20
|
UTSW |
15 |
94,253,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2162:Adamts20
|
UTSW |
15 |
94,229,339 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2350:Adamts20
|
UTSW |
15 |
94,181,797 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2887:Adamts20
|
UTSW |
15 |
94,228,459 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2889:Adamts20
|
UTSW |
15 |
94,228,459 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2890:Adamts20
|
UTSW |
15 |
94,228,459 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3109:Adamts20
|
UTSW |
15 |
94,243,785 (GRCm39) |
splice site |
probably benign |
|
|
R3719:Adamts20
|
UTSW |
15 |
94,259,719 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3832:Adamts20
|
UTSW |
15 |
94,229,339 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3901:Adamts20
|
UTSW |
15 |
94,226,726 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4398:Adamts20
|
UTSW |
15 |
94,231,576 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4402:Adamts20
|
UTSW |
15 |
94,277,827 (GRCm39) |
missense |
probably benign |
|
|
R4431:Adamts20
|
UTSW |
15 |
94,241,924 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4479:Adamts20
|
UTSW |
15 |
94,301,326 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4482:Adamts20
|
UTSW |
15 |
94,243,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4503:Adamts20
|
UTSW |
15 |
94,277,631 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4671:Adamts20
|
UTSW |
15 |
94,301,206 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R4700:Adamts20
|
UTSW |
15 |
94,292,503 (GRCm39) |
nonsense |
probably null |
|
|
R4707:Adamts20
|
UTSW |
15 |
94,231,528 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R4725:Adamts20
|
UTSW |
15 |
94,249,643 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4771:Adamts20
|
UTSW |
15 |
94,249,516 (GRCm39) |
splice site |
probably null |
|
|
R4937:Adamts20
|
UTSW |
15 |
94,277,656 (GRCm39) |
missense |
probably benign |
|
|
R4960:Adamts20
|
UTSW |
15 |
94,277,655 (GRCm39) |
missense |
probably benign |
|
|
R5270:Adamts20
|
UTSW |
15 |
94,180,400 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5388:Adamts20
|
UTSW |
15 |
94,243,659 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5410:Adamts20
|
UTSW |
15 |
94,179,838 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5453:Adamts20
|
UTSW |
15 |
94,223,969 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R5611:Adamts20
|
UTSW |
15 |
94,171,161 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R5687:Adamts20
|
UTSW |
15 |
94,223,852 (GRCm39) |
missense |
probably benign |
0.36 |
|
R5758:Adamts20
|
UTSW |
15 |
94,292,531 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5801:Adamts20
|
UTSW |
15 |
94,245,551 (GRCm39) |
nonsense |
probably null |
|
|
R5834:Adamts20
|
UTSW |
15 |
94,251,465 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5993:Adamts20
|
UTSW |
15 |
94,236,604 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5997:Adamts20
|
UTSW |
15 |
94,277,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6044:Adamts20
|
UTSW |
15 |
94,180,364 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6058:Adamts20
|
UTSW |
15 |
94,227,928 (GRCm39) |
nonsense |
probably null |
|
|
R6217:Adamts20
|
UTSW |
15 |
94,236,596 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6283:Adamts20
|
UTSW |
15 |
94,249,602 (GRCm39) |
missense |
probably benign |
|
|
R6354:Adamts20
|
UTSW |
15 |
94,245,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6415:Adamts20
|
UTSW |
15 |
94,222,540 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6419:Adamts20
|
UTSW |
15 |
94,231,556 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R6476:Adamts20
|
UTSW |
15 |
94,259,691 (GRCm39) |
missense |
probably benign |
0.22 |
|
R6485:Adamts20
|
UTSW |
15 |
94,241,852 (GRCm39) |
missense |
probably benign |
0.17 |
|
R6517:Adamts20
|
UTSW |
15 |
94,180,985 (GRCm39) |
splice site |
probably null |
|
|
R6675:Adamts20
|
UTSW |
15 |
94,229,197 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6863:Adamts20
|
UTSW |
15 |
94,277,627 (GRCm39) |
nonsense |
probably null |
|
|
R7186:Adamts20
|
UTSW |
15 |
94,220,689 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R7263:Adamts20
|
UTSW |
15 |
94,220,772 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R7441:Adamts20
|
UTSW |
15 |
94,251,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7519:Adamts20
|
UTSW |
15 |
94,223,869 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R7747:Adamts20
|
UTSW |
15 |
94,189,468 (GRCm39) |
nonsense |
probably null |
|
|
R7770:Adamts20
|
UTSW |
15 |
94,231,579 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7816:Adamts20
|
UTSW |
15 |
94,220,725 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7827:Adamts20
|
UTSW |
15 |
94,223,814 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7853:Adamts20
|
UTSW |
15 |
94,243,871 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7894:Adamts20
|
UTSW |
15 |
94,249,641 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7951:Adamts20
|
UTSW |
15 |
94,238,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8233:Adamts20
|
UTSW |
15 |
94,189,533 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8458:Adamts20
|
UTSW |
15 |
94,251,521 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8709:Adamts20
|
UTSW |
15 |
94,238,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8719:Adamts20
|
UTSW |
15 |
94,241,903 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8728:Adamts20
|
UTSW |
15 |
94,229,281 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8787:Adamts20
|
UTSW |
15 |
94,184,294 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8801:Adamts20
|
UTSW |
15 |
94,258,490 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9055:Adamts20
|
UTSW |
15 |
94,181,867 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9069:Adamts20
|
UTSW |
15 |
94,236,349 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9297:Adamts20
|
UTSW |
15 |
94,301,321 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9318:Adamts20
|
UTSW |
15 |
94,301,321 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9362:Adamts20
|
UTSW |
15 |
94,236,626 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9658:Adamts20
|
UTSW |
15 |
94,249,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9747:Adamts20
|
UTSW |
15 |
94,180,943 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9769:Adamts20
|
UTSW |
15 |
94,251,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9795:Adamts20
|
UTSW |
15 |
94,301,180 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCAGCATTACAGTGGAATATACGCC -3'
(R):5'- CGCCATGTGATATCACCCTC -3'
Sequencing Primer
(F):5'- CAGTGGAATATACGCCATCCATTTC -3'
(R):5'- GAGCCTCCAAATCTGTATTGGTCAG -3'
|
| Posted On |
2016-03-01 |
Incidental Mutation