Incidental Mutation 'R4831:Adamts13'
ID |
374493 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adamts13
|
Ensembl Gene |
ENSMUSG00000014852 |
Gene Name |
ADAM metallopeptidase with thrombospondin type 1 motif 13 |
Synonyms |
vWF-CP mRNA for von Willebrand factor-cleaving, LOC279028 |
MMRRC Submission |
042447-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.080)
|
Stock # |
R4831 (G1)
|
Quality Score |
137 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
26863428-26899640 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 26873142 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099955
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014996]
[ENSMUST00000014996]
[ENSMUST00000102891]
[ENSMUST00000102891]
|
AlphaFold |
Q769J6 |
Predicted Effect |
probably null
Transcript: ENSMUST00000014996
|
SMART Domains |
Protein: ENSMUSP00000014996 Gene: ENSMUSG00000014852
Domain | Start | End | E-Value | Type |
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
Pfam:Reprolysin_4
|
84 |
287 |
2.3e-11 |
PFAM |
Pfam:Reprolysin
|
84 |
291 |
1e-15 |
PFAM |
Pfam:Reprolysin_3
|
113 |
237 |
2e-10 |
PFAM |
Pfam:Reprolysin_2
|
132 |
281 |
5e-9 |
PFAM |
TSP1
|
392 |
444 |
3.29e-14 |
SMART |
TSP1
|
693 |
748 |
7.01e0 |
SMART |
TSP1
|
750 |
810 |
3.34e-6 |
SMART |
TSP1
|
904 |
959 |
5.85e0 |
SMART |
TSP1
|
961 |
1019 |
2.69e0 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000014996
|
SMART Domains |
Protein: ENSMUSP00000014996 Gene: ENSMUSG00000014852
Domain | Start | End | E-Value | Type |
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
Pfam:Reprolysin_4
|
84 |
287 |
2.3e-11 |
PFAM |
Pfam:Reprolysin
|
84 |
291 |
1e-15 |
PFAM |
Pfam:Reprolysin_3
|
113 |
237 |
2e-10 |
PFAM |
Pfam:Reprolysin_2
|
132 |
281 |
5e-9 |
PFAM |
TSP1
|
392 |
444 |
3.29e-14 |
SMART |
TSP1
|
693 |
748 |
7.01e0 |
SMART |
TSP1
|
750 |
810 |
3.34e-6 |
SMART |
TSP1
|
904 |
959 |
5.85e0 |
SMART |
TSP1
|
961 |
1019 |
2.69e0 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000102891
|
SMART Domains |
Protein: ENSMUSP00000099955 Gene: ENSMUSG00000014852
Domain | Start | End | E-Value | Type |
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
Pfam:Reprolysin_4
|
84 |
287 |
8.5e-11 |
PFAM |
Pfam:Reprolysin
|
96 |
291 |
4.9e-14 |
PFAM |
Pfam:Reprolysin_3
|
106 |
237 |
5.6e-11 |
PFAM |
TSP1
|
392 |
444 |
3.29e-14 |
SMART |
TSP1
|
693 |
748 |
7.01e0 |
SMART |
TSP1
|
750 |
810 |
3.34e-6 |
SMART |
TSP1
|
904 |
959 |
5.85e0 |
SMART |
TSP1
|
961 |
1019 |
2.69e0 |
SMART |
Blast:TSP1
|
1022 |
1079 |
4e-26 |
BLAST |
TSP1
|
1081 |
1137 |
4.58e-4 |
SMART |
Blast:CUB
|
1196 |
1293 |
2e-39 |
BLAST |
Blast:CUB
|
1303 |
1412 |
3e-63 |
BLAST |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000102891
|
SMART Domains |
Protein: ENSMUSP00000099955 Gene: ENSMUSG00000014852
Domain | Start | End | E-Value | Type |
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
Pfam:Reprolysin_4
|
84 |
287 |
8.5e-11 |
PFAM |
Pfam:Reprolysin
|
96 |
291 |
4.9e-14 |
PFAM |
Pfam:Reprolysin_3
|
106 |
237 |
5.6e-11 |
PFAM |
TSP1
|
392 |
444 |
3.29e-14 |
SMART |
TSP1
|
693 |
748 |
7.01e0 |
SMART |
TSP1
|
750 |
810 |
3.34e-6 |
SMART |
TSP1
|
904 |
959 |
5.85e0 |
SMART |
TSP1
|
961 |
1019 |
2.69e0 |
SMART |
Blast:TSP1
|
1022 |
1079 |
4e-26 |
BLAST |
TSP1
|
1081 |
1137 |
4.58e-4 |
SMART |
Blast:CUB
|
1196 |
1293 |
2e-39 |
BLAST |
Blast:CUB
|
1303 |
1412 |
3e-63 |
BLAST |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.3%
|
Validation Efficiency |
99% (96/97) |
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. In certain mouse strains (C57BL/6, for example) an intracisternal A-type particle (IAP) retrotransposon sequence is located in the intron 23 that causes an alternate splicing event resulting in a shorter transcript variants encoding shorter isoforms. The encoded preproprotein undergoes proteolytic processing to generate an active enzyme that cleaves von Willebrand factor (VWF) in circulating blood. [provided by RefSeq, Jul 2016] PHENOTYPE: Homozygous mutation of this gene results in thrombocytopenia, decreased survival, and increased susceptibility to developing thrombotic thrombocytopenic purpura after shiga toxin injection. On a different background, mutants are viable and fertile. [provided by MGI curators]
|
Allele List at MGI |
All alleles(10) : Targeted(7) Gene trapped(2) Spontaneous(1)
|
Other mutations in this stock |
Total: 92 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2810408A11Rik |
C |
T |
11: 69,791,403 (GRCm39) |
V59I |
possibly damaging |
Het |
4930544M13Rik |
T |
G |
13: 114,744,183 (GRCm39) |
|
noncoding transcript |
Het |
Abca13 |
A |
T |
11: 9,492,077 (GRCm39) |
K4373* |
probably null |
Het |
Abtb2 |
A |
T |
2: 103,513,820 (GRCm39) |
T410S |
probably benign |
Het |
Ahnak2 |
C |
G |
12: 112,742,183 (GRCm39) |
D630H |
probably damaging |
Het |
Aox3 |
T |
C |
1: 58,191,725 (GRCm39) |
S426P |
probably damaging |
Het |
Atxn10 |
C |
T |
15: 85,271,260 (GRCm39) |
S266F |
probably benign |
Het |
B4galnt4 |
G |
T |
7: 140,647,634 (GRCm39) |
M407I |
probably damaging |
Het |
B4galnt4 |
T |
A |
7: 140,644,470 (GRCm39) |
|
probably null |
Het |
Bclaf1 |
T |
A |
10: 20,197,872 (GRCm39) |
|
probably benign |
Het |
C4b |
C |
T |
17: 34,955,864 (GRCm39) |
|
probably null |
Het |
Cdc42bpg |
T |
C |
19: 6,361,365 (GRCm39) |
F297S |
probably damaging |
Het |
Cdh10 |
A |
T |
15: 19,013,664 (GRCm39) |
T755S |
probably benign |
Het |
Ceacam12 |
T |
A |
7: 17,811,305 (GRCm39) |
|
probably null |
Het |
Cfap65 |
C |
A |
1: 74,956,454 (GRCm39) |
V1042F |
possibly damaging |
Het |
Cfap77 |
T |
C |
2: 28,875,844 (GRCm39) |
I89V |
probably benign |
Het |
Cfh |
T |
C |
1: 140,014,125 (GRCm39) |
D688G |
probably benign |
Het |
Clip1 |
C |
G |
5: 123,721,664 (GRCm39) |
A1182P |
probably damaging |
Het |
Cyp2b10 |
T |
A |
7: 25,614,921 (GRCm39) |
Y309* |
probably null |
Het |
Dcaf5 |
T |
C |
12: 80,385,858 (GRCm39) |
E756G |
probably benign |
Het |
Dctn1 |
A |
T |
6: 83,176,753 (GRCm39) |
Q1231L |
possibly damaging |
Het |
Dennd1c |
T |
A |
17: 57,373,428 (GRCm39) |
R682* |
probably null |
Het |
Eml6 |
C |
A |
11: 29,727,052 (GRCm39) |
E1319* |
probably null |
Het |
Erap1 |
T |
C |
13: 74,838,766 (GRCm39) |
I904T |
probably damaging |
Het |
Eri1 |
A |
T |
8: 35,943,673 (GRCm39) |
I207N |
possibly damaging |
Het |
Farp1 |
G |
A |
14: 121,514,469 (GRCm39) |
A933T |
probably damaging |
Het |
Fcna |
T |
A |
2: 25,515,353 (GRCm39) |
Q210L |
probably benign |
Het |
Fhad1 |
A |
T |
4: 141,643,378 (GRCm39) |
|
probably null |
Het |
Fut8 |
T |
G |
12: 77,440,603 (GRCm39) |
Y197D |
probably damaging |
Het |
Garem1 |
G |
A |
18: 21,262,825 (GRCm39) |
T663I |
probably benign |
Het |
Gfm2 |
T |
C |
13: 97,301,546 (GRCm39) |
S450P |
probably damaging |
Het |
Gstk1 |
T |
G |
6: 42,222,938 (GRCm39) |
|
probably benign |
Het |
Helz2 |
C |
T |
2: 180,879,210 (GRCm39) |
A803T |
probably damaging |
Het |
Igsf9 |
T |
A |
1: 172,319,455 (GRCm39) |
I280N |
probably damaging |
Het |
Klhl10 |
A |
G |
11: 100,336,669 (GRCm39) |
K219E |
probably benign |
Het |
L3mbtl4 |
T |
A |
17: 68,768,558 (GRCm39) |
V222D |
probably damaging |
Het |
Lrrc9 |
A |
T |
12: 72,546,453 (GRCm39) |
N1214Y |
probably damaging |
Het |
Ltbp2 |
C |
T |
12: 84,840,414 (GRCm39) |
E1051K |
possibly damaging |
Het |
Mettl17 |
T |
C |
14: 52,122,440 (GRCm39) |
F13S |
probably benign |
Het |
Mettl24 |
C |
A |
10: 40,559,413 (GRCm39) |
A21D |
possibly damaging |
Het |
Mfsd6l |
T |
A |
11: 68,447,331 (GRCm39) |
C61S |
probably benign |
Het |
Mob4 |
T |
G |
1: 55,191,899 (GRCm39) |
D204E |
probably benign |
Het |
Mtus1 |
C |
G |
8: 41,536,189 (GRCm39) |
R509T |
probably damaging |
Het |
Nlrp4a |
T |
A |
7: 26,149,844 (GRCm39) |
F484I |
possibly damaging |
Het |
Nsrp1 |
T |
C |
11: 76,941,444 (GRCm39) |
N88S |
probably benign |
Het |
Odad2 |
G |
T |
18: 7,222,564 (GRCm39) |
H568Q |
possibly damaging |
Het |
Or10d5 |
C |
T |
9: 39,861,408 (GRCm39) |
V220I |
probably benign |
Het |
Or2g25 |
T |
A |
17: 37,970,969 (GRCm39) |
H85L |
probably benign |
Het |
Or51b6b |
T |
C |
7: 103,309,678 (GRCm39) |
T260A |
probably benign |
Het |
Or6c2 |
T |
A |
10: 129,362,449 (GRCm39) |
Y118N |
probably damaging |
Het |
Parg |
A |
G |
14: 31,924,408 (GRCm39) |
N69S |
probably benign |
Het |
Pcdh9 |
A |
C |
14: 94,125,377 (GRCm39) |
N264K |
probably damaging |
Het |
Pcdhb22 |
G |
T |
18: 37,653,615 (GRCm39) |
L694F |
probably damaging |
Het |
Pcnt |
T |
C |
10: 76,248,335 (GRCm39) |
E928G |
probably damaging |
Het |
Pdzk1 |
G |
A |
3: 96,775,751 (GRCm39) |
G373D |
probably benign |
Het |
Pea15a |
A |
G |
1: 172,026,740 (GRCm39) |
I89T |
probably damaging |
Het |
Phc1 |
T |
A |
6: 122,313,964 (GRCm39) |
|
probably benign |
Het |
Pikfyve |
T |
A |
1: 65,235,900 (GRCm39) |
C191S |
probably damaging |
Het |
Pitpnm1 |
T |
A |
19: 4,158,130 (GRCm39) |
D573E |
probably damaging |
Het |
Pld5 |
A |
G |
1: 176,102,450 (GRCm39) |
|
probably benign |
Het |
Plscr2 |
A |
T |
9: 92,173,130 (GRCm39) |
N89I |
possibly damaging |
Het |
Pm20d2 |
A |
C |
4: 33,179,293 (GRCm39) |
N315K |
probably damaging |
Het |
Pnpla1 |
T |
A |
17: 29,097,518 (GRCm39) |
M228K |
probably benign |
Het |
Prim2 |
T |
C |
1: 33,709,217 (GRCm39) |
|
probably benign |
Het |
Ralgapa2 |
A |
G |
2: 146,246,987 (GRCm39) |
|
probably benign |
Het |
Rgs22 |
G |
T |
15: 36,050,294 (GRCm39) |
H719N |
probably benign |
Het |
Ror2 |
C |
T |
13: 53,272,880 (GRCm39) |
D250N |
probably damaging |
Het |
Saal1 |
A |
G |
7: 46,349,071 (GRCm39) |
V281A |
probably benign |
Het |
Selenof |
A |
T |
3: 144,296,411 (GRCm39) |
K94N |
probably damaging |
Het |
Slamf9 |
T |
A |
1: 172,304,831 (GRCm39) |
C148* |
probably null |
Het |
Slc4a7 |
T |
C |
14: 14,772,699 (GRCm38) |
|
probably null |
Het |
Slco1a5 |
A |
G |
6: 142,180,431 (GRCm39) |
I657T |
probably benign |
Het |
St3gal2 |
A |
T |
8: 111,684,480 (GRCm39) |
H46L |
probably benign |
Het |
Sucnr1 |
T |
G |
3: 59,994,069 (GRCm39) |
M199R |
probably damaging |
Het |
Taok1 |
T |
A |
11: 77,444,500 (GRCm39) |
E525V |
probably null |
Het |
Tbc1d10c |
T |
A |
19: 4,235,445 (GRCm39) |
E298V |
probably damaging |
Het |
Tll2 |
T |
A |
19: 41,118,951 (GRCm39) |
H259L |
probably damaging |
Het |
Tpcn1 |
A |
T |
5: 120,691,554 (GRCm39) |
F300Y |
probably damaging |
Het |
Uba6 |
T |
A |
5: 86,279,197 (GRCm39) |
I642L |
probably benign |
Het |
Ubqln5 |
T |
A |
7: 103,778,829 (GRCm39) |
|
probably benign |
Het |
Vmn1r27 |
A |
T |
6: 58,192,827 (GRCm39) |
L9Q |
possibly damaging |
Het |
Vmn2r100 |
C |
T |
17: 19,741,672 (GRCm39) |
T128I |
probably benign |
Het |
Vmn2r109 |
C |
T |
17: 20,761,494 (GRCm39) |
G621D |
probably benign |
Het |
Vmn2r49 |
C |
T |
7: 9,720,352 (GRCm39) |
D380N |
probably benign |
Het |
Vps13a |
C |
T |
19: 16,655,356 (GRCm39) |
V1891I |
probably benign |
Het |
Wbp2 |
G |
T |
11: 115,971,463 (GRCm39) |
Y147* |
probably null |
Het |
Wdr46 |
T |
A |
17: 34,160,810 (GRCm39) |
N191K |
probably benign |
Het |
Wdr46 |
T |
C |
17: 34,168,373 (GRCm39) |
|
probably benign |
Het |
Wnt2 |
A |
C |
6: 18,023,285 (GRCm39) |
F121L |
probably benign |
Het |
Xpnpep1 |
T |
A |
19: 53,003,053 (GRCm39) |
D100V |
probably benign |
Het |
Xpo4 |
T |
C |
14: 57,827,559 (GRCm39) |
Y879C |
probably damaging |
Het |
Zswim4 |
A |
T |
8: 84,938,948 (GRCm39) |
V978D |
probably damaging |
Het |
|
Other mutations in Adamts13 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00089:Adamts13
|
APN |
2 |
26,895,373 (GRCm39) |
missense |
probably benign |
0.04 |
IGL00465:Adamts13
|
APN |
2 |
26,863,567 (GRCm39) |
missense |
probably benign |
0.32 |
IGL01114:Adamts13
|
APN |
2 |
26,895,202 (GRCm39) |
missense |
probably benign |
0.41 |
IGL01138:Adamts13
|
APN |
2 |
26,873,054 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01154:Adamts13
|
APN |
2 |
26,896,206 (GRCm39) |
missense |
probably benign |
|
IGL01860:Adamts13
|
APN |
2 |
26,868,023 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01924:Adamts13
|
APN |
2 |
26,886,595 (GRCm39) |
missense |
possibly damaging |
0.80 |
IGL01991:Adamts13
|
APN |
2 |
26,880,610 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02215:Adamts13
|
APN |
2 |
26,875,495 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02415:Adamts13
|
APN |
2 |
26,879,295 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL02519:Adamts13
|
APN |
2 |
26,868,687 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02956:Adamts13
|
APN |
2 |
26,873,049 (GRCm39) |
missense |
probably benign |
0.18 |
IGL03209:Adamts13
|
APN |
2 |
26,882,973 (GRCm39) |
missense |
probably benign |
0.00 |
I1329:Adamts13
|
UTSW |
2 |
26,863,631 (GRCm39) |
missense |
possibly damaging |
0.52 |
IGL02837:Adamts13
|
UTSW |
2 |
26,881,432 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03048:Adamts13
|
UTSW |
2 |
26,868,711 (GRCm39) |
critical splice donor site |
probably null |
|
R0041:Adamts13
|
UTSW |
2 |
26,873,986 (GRCm39) |
missense |
probably damaging |
1.00 |
R0217:Adamts13
|
UTSW |
2 |
26,886,933 (GRCm39) |
splice site |
probably benign |
|
R0276:Adamts13
|
UTSW |
2 |
26,865,772 (GRCm39) |
missense |
possibly damaging |
0.91 |
R0309:Adamts13
|
UTSW |
2 |
26,877,001 (GRCm39) |
missense |
probably damaging |
0.99 |
R0348:Adamts13
|
UTSW |
2 |
26,871,092 (GRCm39) |
missense |
probably benign |
0.13 |
R0369:Adamts13
|
UTSW |
2 |
26,895,198 (GRCm39) |
missense |
probably benign |
0.00 |
R0386:Adamts13
|
UTSW |
2 |
26,876,691 (GRCm39) |
splice site |
probably null |
|
R0553:Adamts13
|
UTSW |
2 |
26,881,346 (GRCm39) |
nonsense |
probably null |
|
R0714:Adamts13
|
UTSW |
2 |
26,876,997 (GRCm39) |
splice site |
probably benign |
|
R0862:Adamts13
|
UTSW |
2 |
26,896,336 (GRCm39) |
critical splice donor site |
probably null |
|
R1320:Adamts13
|
UTSW |
2 |
26,879,258 (GRCm39) |
missense |
probably damaging |
0.97 |
R1458:Adamts13
|
UTSW |
2 |
26,878,366 (GRCm39) |
missense |
probably damaging |
1.00 |
R1473:Adamts13
|
UTSW |
2 |
26,871,765 (GRCm39) |
nonsense |
probably null |
|
R1491:Adamts13
|
UTSW |
2 |
26,868,327 (GRCm39) |
missense |
probably damaging |
1.00 |
R1588:Adamts13
|
UTSW |
2 |
26,865,687 (GRCm39) |
missense |
probably benign |
0.01 |
R1638:Adamts13
|
UTSW |
2 |
26,886,595 (GRCm39) |
missense |
possibly damaging |
0.80 |
R1724:Adamts13
|
UTSW |
2 |
26,881,306 (GRCm39) |
missense |
probably benign |
0.00 |
R1924:Adamts13
|
UTSW |
2 |
26,874,153 (GRCm39) |
missense |
probably damaging |
1.00 |
R2001:Adamts13
|
UTSW |
2 |
26,864,002 (GRCm39) |
missense |
probably benign |
|
R2072:Adamts13
|
UTSW |
2 |
26,895,437 (GRCm39) |
missense |
probably benign |
0.10 |
R2073:Adamts13
|
UTSW |
2 |
26,896,326 (GRCm39) |
missense |
probably damaging |
1.00 |
R2409:Adamts13
|
UTSW |
2 |
26,868,374 (GRCm39) |
missense |
probably benign |
0.00 |
R4362:Adamts13
|
UTSW |
2 |
26,894,794 (GRCm39) |
missense |
probably damaging |
1.00 |
R4363:Adamts13
|
UTSW |
2 |
26,894,794 (GRCm39) |
missense |
probably damaging |
1.00 |
R4422:Adamts13
|
UTSW |
2 |
26,895,412 (GRCm39) |
missense |
probably benign |
0.00 |
R4769:Adamts13
|
UTSW |
2 |
26,898,723 (GRCm39) |
nonsense |
probably null |
|
R4785:Adamts13
|
UTSW |
2 |
26,873,054 (GRCm39) |
missense |
probably damaging |
1.00 |
R4832:Adamts13
|
UTSW |
2 |
26,879,414 (GRCm39) |
missense |
probably benign |
0.22 |
R4945:Adamts13
|
UTSW |
2 |
26,876,622 (GRCm39) |
missense |
probably damaging |
1.00 |
R5047:Adamts13
|
UTSW |
2 |
26,886,922 (GRCm39) |
missense |
probably damaging |
0.98 |
R5126:Adamts13
|
UTSW |
2 |
26,886,927 (GRCm39) |
critical splice donor site |
probably null |
|
R5161:Adamts13
|
UTSW |
2 |
26,883,020 (GRCm39) |
missense |
probably benign |
0.00 |
R5394:Adamts13
|
UTSW |
2 |
26,876,570 (GRCm39) |
missense |
probably benign |
0.00 |
R5557:Adamts13
|
UTSW |
2 |
26,863,651 (GRCm39) |
missense |
probably benign |
0.05 |
R5660:Adamts13
|
UTSW |
2 |
26,886,761 (GRCm39) |
missense |
probably benign |
|
R5890:Adamts13
|
UTSW |
2 |
26,876,603 (GRCm39) |
missense |
probably damaging |
0.96 |
R6168:Adamts13
|
UTSW |
2 |
26,894,898 (GRCm39) |
missense |
probably benign |
0.37 |
R6536:Adamts13
|
UTSW |
2 |
26,865,762 (GRCm39) |
missense |
probably damaging |
0.99 |
R6929:Adamts13
|
UTSW |
2 |
26,896,275 (GRCm39) |
nonsense |
probably null |
|
R7207:Adamts13
|
UTSW |
2 |
26,868,707 (GRCm39) |
missense |
probably damaging |
1.00 |
R7211:Adamts13
|
UTSW |
2 |
26,879,310 (GRCm39) |
missense |
probably benign |
0.40 |
R7212:Adamts13
|
UTSW |
2 |
26,896,326 (GRCm39) |
missense |
probably damaging |
1.00 |
R7392:Adamts13
|
UTSW |
2 |
26,879,336 (GRCm39) |
missense |
probably damaging |
1.00 |
R7583:Adamts13
|
UTSW |
2 |
26,863,965 (GRCm39) |
missense |
probably benign |
|
R7604:Adamts13
|
UTSW |
2 |
26,895,218 (GRCm39) |
missense |
probably benign |
0.00 |
R7783:Adamts13
|
UTSW |
2 |
26,880,597 (GRCm39) |
missense |
not run |
|
R7814:Adamts13
|
UTSW |
2 |
26,886,561 (GRCm39) |
missense |
probably benign |
|
R8076:Adamts13
|
UTSW |
2 |
26,880,624 (GRCm39) |
missense |
probably benign |
0.06 |
R8245:Adamts13
|
UTSW |
2 |
26,880,568 (GRCm39) |
missense |
probably damaging |
1.00 |
R8526:Adamts13
|
UTSW |
2 |
26,868,012 (GRCm39) |
missense |
probably benign |
|
R9112:Adamts13
|
UTSW |
2 |
26,880,379 (GRCm39) |
missense |
possibly damaging |
0.60 |
R9147:Adamts13
|
UTSW |
2 |
26,883,024 (GRCm39) |
missense |
probably benign |
|
R9148:Adamts13
|
UTSW |
2 |
26,883,024 (GRCm39) |
missense |
probably benign |
|
R9704:Adamts13
|
UTSW |
2 |
26,895,237 (GRCm39) |
missense |
|
|
R9743:Adamts13
|
UTSW |
2 |
26,895,491 (GRCm39) |
critical splice donor site |
probably null |
|
R9743:Adamts13
|
UTSW |
2 |
26,886,812 (GRCm39) |
missense |
probably benign |
0.16 |
X0027:Adamts13
|
UTSW |
2 |
26,875,558 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- TCCGAGCAGGGAATTAACTC -3'
(R):5'- GGAGCTTGCTGTCACTCAAC -3'
Sequencing Primer
(F):5'- TCCGAGCAGGGAATTAACTCATCTAG -3'
(R):5'- TGAGAAGTGGTACCAGGCCC -3'
|
Posted On |
2016-03-16 |