Incidental Mutation 'R5394:Adamts13'
| ID |
426004 |
| 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 |
042966-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.092)
|
| Stock # |
R5394 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
26863428-26899640 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 26876570 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 495
(V495I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099955
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014996]
[ENSMUST00000102891]
|
| AlphaFold |
Q769J6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000014996
AA Change: V495I
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000014996
Gene: ENSMUSG00000014852
AA Change: V495I
| 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 benign
Transcript: ENSMUST00000102891
AA Change: V495I
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000099955
Gene: ENSMUSG00000014852
AA Change: V495I
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
97% (96/99) |
| 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: 88 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503B20Rik |
A |
G |
3: 146,356,363 (GRCm39) |
F182L |
probably damaging |
Het |
| 4930503B20Rik |
T |
C |
3: 146,356,713 (GRCm39) |
Y65C |
probably damaging |
Het |
| 4930590J08Rik |
A |
G |
6: 91,896,174 (GRCm39) |
T341A |
probably benign |
Het |
| Alms1 |
C |
A |
6: 85,600,070 (GRCm39) |
T2101K |
probably benign |
Het |
| Als2 |
T |
C |
1: 59,214,105 (GRCm39) |
D1361G |
probably benign |
Het |
| Ankdd1a |
A |
T |
9: 65,412,496 (GRCm39) |
M275K |
probably benign |
Het |
| Arfip2 |
A |
T |
7: 105,286,183 (GRCm39) |
Y161* |
probably null |
Het |
| Asap3 |
A |
T |
4: 135,968,570 (GRCm39) |
E707D |
probably benign |
Het |
| Atm |
C |
T |
9: 53,419,077 (GRCm39) |
|
probably null |
Het |
| Atp9b |
A |
T |
18: 80,820,052 (GRCm39) |
S577R |
probably benign |
Het |
| Bltp1 |
G |
T |
3: 36,971,817 (GRCm39) |
V517F |
probably damaging |
Het |
| Camk1d |
G |
C |
2: 5,308,177 (GRCm39) |
D274E |
probably benign |
Het |
| Cebpz |
C |
T |
17: 79,229,634 (GRCm39) |
D907N |
probably benign |
Het |
| Cmtm1 |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
8: 105,036,102 (GRCm39) |
|
probably benign |
Het |
| Cnst |
T |
A |
1: 179,429,301 (GRCm39) |
|
probably benign |
Het |
| Cog2 |
G |
T |
8: 125,259,268 (GRCm39) |
V196L |
probably benign |
Het |
| Col11a1 |
A |
G |
3: 113,987,833 (GRCm39) |
|
probably null |
Het |
| Cops6 |
T |
A |
5: 138,161,762 (GRCm39) |
|
probably null |
Het |
| Cspg4 |
A |
G |
9: 56,797,484 (GRCm39) |
E1316G |
probably damaging |
Het |
| Cwc22 |
G |
C |
2: 77,759,683 (GRCm39) |
D122E |
possibly damaging |
Het |
| Dapk2 |
G |
A |
9: 66,176,000 (GRCm39) |
V300M |
probably benign |
Het |
| Dcp1b |
C |
A |
6: 119,152,328 (GRCm39) |
D25E |
probably damaging |
Het |
| Ddx10 |
A |
T |
9: 53,145,157 (GRCm39) |
Y273* |
probably null |
Het |
| Dhx58 |
T |
C |
11: 100,589,034 (GRCm39) |
E504G |
probably benign |
Het |
| Dync2h1 |
C |
T |
9: 7,120,899 (GRCm39) |
W2129* |
probably null |
Het |
| Egr4 |
A |
T |
6: 85,489,442 (GRCm39) |
L206Q |
probably damaging |
Het |
| Eif4g3 |
A |
G |
4: 137,830,709 (GRCm39) |
|
probably null |
Het |
| Fbxo46 |
A |
G |
7: 18,870,541 (GRCm39) |
N387D |
possibly damaging |
Het |
| Fpr-rs3 |
T |
G |
17: 20,844,470 (GRCm39) |
M224L |
probably benign |
Het |
| Gm14325 |
G |
A |
2: 177,474,777 (GRCm39) |
H102Y |
possibly damaging |
Het |
| Gxylt2 |
A |
G |
6: 100,682,075 (GRCm39) |
K91E |
probably benign |
Het |
| Hecw1 |
A |
T |
13: 14,497,174 (GRCm39) |
V278E |
probably damaging |
Het |
| Hydin |
A |
G |
8: 111,266,474 (GRCm39) |
|
probably null |
Het |
| Iars1 |
T |
C |
13: 49,875,641 (GRCm39) |
L776P |
probably damaging |
Het |
| Kcnh2 |
T |
A |
5: 24,537,039 (GRCm39) |
T182S |
probably benign |
Het |
| Kplce |
T |
C |
3: 92,776,005 (GRCm39) |
E226G |
probably damaging |
Het |
| Lats2 |
T |
G |
14: 57,928,810 (GRCm39) |
S1022R |
probably benign |
Het |
| Lef1 |
C |
T |
3: 130,988,308 (GRCm39) |
P264S |
probably damaging |
Het |
| Lyrm1 |
A |
C |
7: 119,513,471 (GRCm39) |
I79L |
possibly damaging |
Het |
| Macroh2a2 |
G |
A |
10: 61,587,466 (GRCm39) |
T156M |
possibly damaging |
Het |
| Man2b2 |
T |
G |
5: 36,971,862 (GRCm39) |
Q618P |
probably benign |
Het |
| Mei1 |
T |
C |
15: 81,976,957 (GRCm39) |
V180A |
possibly damaging |
Het |
| Mmp15 |
A |
T |
8: 96,093,032 (GRCm39) |
N137I |
probably damaging |
Het |
| Mms22l |
A |
G |
4: 24,517,115 (GRCm39) |
D222G |
possibly damaging |
Het |
| Mmut |
T |
A |
17: 41,258,075 (GRCm39) |
S414T |
probably benign |
Het |
| Myo18a |
T |
C |
11: 77,744,176 (GRCm39) |
M1846T |
probably benign |
Het |
| Neo1 |
A |
T |
9: 58,897,517 (GRCm39) |
N146K |
probably benign |
Het |
| Nos3 |
A |
G |
5: 24,588,888 (GRCm39) |
T1174A |
probably benign |
Het |
| Or10d4b |
A |
T |
9: 39,534,430 (GRCm39) |
T4S |
probably benign |
Het |
| Or10x1 |
T |
C |
1: 174,196,836 (GRCm39) |
Y118H |
probably damaging |
Het |
| Or4c125 |
A |
T |
2: 89,169,806 (GRCm39) |
I280N |
probably damaging |
Het |
| Or51f1 |
A |
T |
7: 102,505,686 (GRCm39) |
S268T |
probably damaging |
Het |
| Pax8 |
A |
T |
2: 24,332,922 (GRCm39) |
|
probably benign |
Het |
| Pde5a |
G |
A |
3: 122,611,658 (GRCm39) |
C532Y |
probably damaging |
Het |
| Pigq |
T |
C |
17: 26,150,446 (GRCm39) |
D442G |
possibly damaging |
Het |
| Pik3c2g |
T |
C |
6: 139,665,808 (GRCm39) |
V43A |
probably benign |
Het |
| Pik3cb |
T |
C |
9: 98,970,716 (GRCm39) |
N325S |
probably benign |
Het |
| Pot1b |
T |
C |
17: 56,007,063 (GRCm39) |
K18R |
probably benign |
Het |
| Ppp1r42 |
A |
T |
1: 10,069,630 (GRCm39) |
L144Q |
probably damaging |
Het |
| Prdm13 |
T |
A |
4: 21,679,455 (GRCm39) |
Q345L |
unknown |
Het |
| Pyroxd2 |
T |
A |
19: 42,728,898 (GRCm39) |
K167N |
probably benign |
Het |
| Rnf123 |
T |
C |
9: 107,947,930 (GRCm39) |
Y131C |
probably damaging |
Het |
| Rnf25 |
T |
C |
1: 74,634,411 (GRCm39) |
D204G |
probably damaging |
Het |
| Rpf2 |
G |
A |
10: 40,109,181 (GRCm39) |
T60I |
possibly damaging |
Het |
| Scaf11 |
T |
C |
15: 96,317,339 (GRCm39) |
N742D |
probably benign |
Het |
| Shank1 |
G |
A |
7: 44,002,075 (GRCm39) |
D1257N |
possibly damaging |
Het |
| Shc2 |
A |
G |
10: 79,465,933 (GRCm39) |
V168A |
probably damaging |
Het |
| Slc16a4 |
G |
A |
3: 107,199,758 (GRCm39) |
V2M |
probably benign |
Het |
| Slc24a3 |
T |
C |
2: 145,455,494 (GRCm39) |
V461A |
probably benign |
Het |
| Slc45a2 |
C |
T |
15: 11,027,871 (GRCm39) |
T480I |
probably damaging |
Het |
| Slc4a4 |
T |
A |
5: 89,345,623 (GRCm39) |
|
probably null |
Het |
| Snx30 |
T |
A |
4: 59,879,329 (GRCm39) |
D189E |
probably benign |
Het |
| Sspo |
A |
G |
6: 48,472,194 (GRCm39) |
Q4653R |
possibly damaging |
Het |
| Tpte |
G |
T |
8: 22,817,806 (GRCm39) |
R264I |
probably damaging |
Het |
| Tsc22d4 |
T |
A |
5: 137,757,036 (GRCm39) |
|
probably benign |
Het |
| Ubn1 |
T |
C |
16: 4,892,233 (GRCm39) |
L585P |
possibly damaging |
Het |
| Usp24 |
A |
T |
4: 106,265,210 (GRCm39) |
D1781V |
probably damaging |
Het |
| Utp20 |
A |
T |
10: 88,608,777 (GRCm39) |
Y1514* |
probably null |
Het |
| Vmn1r55 |
A |
T |
7: 5,149,995 (GRCm39) |
Y143N |
probably damaging |
Het |
| Vmn2r65 |
A |
G |
7: 84,595,862 (GRCm39) |
V274A |
probably benign |
Het |
| Wdr17 |
A |
G |
8: 55,092,524 (GRCm39) |
S1087P |
possibly damaging |
Het |
| Wnt5b |
C |
A |
6: 119,417,283 (GRCm39) |
R156L |
probably damaging |
Het |
| Zan |
T |
C |
5: 137,433,896 (GRCm39) |
D2279G |
unknown |
Het |
| Zan |
T |
C |
5: 137,462,336 (GRCm39) |
T948A |
unknown |
Het |
| Zfp758 |
T |
C |
17: 22,591,049 (GRCm39) |
S4P |
probably damaging |
Het |
| Zfp839 |
A |
G |
12: 110,822,020 (GRCm39) |
E278G |
probably benign |
Het |
| Zfp994 |
T |
A |
17: 22,419,506 (GRCm39) |
H481L |
probably damaging |
Het |
| Zswim9 |
G |
A |
7: 12,994,909 (GRCm39) |
R416C |
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 |
|
R4831:Adamts13
|
UTSW |
2 |
26,873,142 (GRCm39) |
critical splice donor site |
probably null |
|
|
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 |
|
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'- GCCTCATAAGCAAAGCTGAGG -3'
(R):5'- AGGGCAACTCCATAGATCATCTC -3'
Sequencing Primer
(F):5'- CTGAGGCTGGTGGGACAG -3'
(R):5'- CAGAAGCCTTCTACTAGAACAGG -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation