Incidental Mutation 'R1473:Adamts13'
| ID |
165892 |
| 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 |
039526-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
R1473 (G1)
|
| Quality Score |
190 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
26863428-26899640 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 26871765 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 310
(Y310*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099955
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014996]
[ENSMUST00000102891]
|
| AlphaFold |
Q769J6 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000014996
AA Change: Y310*
|
| SMART Domains |
Protein: ENSMUSP00000014996
Gene: ENSMUSG00000014852
AA Change: Y310*
| 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
AA Change: Y310*
|
| SMART Domains |
Protein: ENSMUSP00000099955
Gene: ENSMUSG00000014852
AA Change: Y310*
| 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 |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.2%
|
| Validation Efficiency |
98% (88/90) |
| 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: 89 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim1 |
T |
C |
19: 57,056,668 (GRCm39) |
D342G |
probably damaging |
Het |
| Acad8 |
T |
C |
9: 26,890,337 (GRCm39) |
T293A |
probably benign |
Het |
| Adcy6 |
T |
A |
15: 98,490,624 (GRCm39) |
Y1102F |
probably damaging |
Het |
| Ahctf1 |
G |
A |
1: 179,603,673 (GRCm39) |
T791M |
probably benign |
Het |
| Ahctf1 |
A |
G |
1: 179,626,844 (GRCm39) |
V18A |
probably damaging |
Het |
| Ahcyl |
T |
A |
16: 45,975,182 (GRCm39) |
E65V |
probably damaging |
Het |
| Ampd3 |
T |
G |
7: 110,404,142 (GRCm39) |
S564R |
probably damaging |
Het |
| Anapc1 |
A |
T |
2: 128,459,617 (GRCm39) |
I1814K |
possibly damaging |
Het |
| Arl4c |
A |
T |
1: 88,629,331 (GRCm39) |
L19Q |
probably damaging |
Het |
| Atp6v0e2 |
T |
C |
6: 48,516,198 (GRCm39) |
Y49H |
probably damaging |
Het |
| Ccdc121rt3 |
T |
C |
5: 112,502,415 (GRCm39) |
T430A |
probably benign |
Het |
| Ccdc24 |
G |
T |
4: 117,727,101 (GRCm39) |
|
probably benign |
Het |
| Ceacam23 |
A |
G |
7: 17,639,016 (GRCm39) |
|
noncoding transcript |
Het |
| Clcn6 |
A |
C |
4: 148,108,613 (GRCm39) |
F139V |
possibly damaging |
Het |
| Col2a1 |
A |
G |
15: 97,880,789 (GRCm39) |
|
probably benign |
Het |
| Crip2 |
T |
A |
12: 113,107,120 (GRCm39) |
C29S |
probably damaging |
Het |
| Cyp2a4 |
A |
C |
7: 26,014,188 (GRCm39) |
N455T |
probably benign |
Het |
| Dhcr7 |
T |
C |
7: 143,400,805 (GRCm39) |
Y323H |
probably damaging |
Het |
| Dhcr7 |
A |
G |
7: 143,395,105 (GRCm39) |
D113G |
probably damaging |
Het |
| Dnah7a |
A |
C |
1: 53,535,173 (GRCm39) |
S2696A |
probably benign |
Het |
| Dnajc12 |
A |
G |
10: 63,233,023 (GRCm39) |
T55A |
probably benign |
Het |
| Drosha |
G |
A |
15: 12,912,606 (GRCm39) |
E1075K |
probably benign |
Het |
| Duox2 |
A |
G |
2: 122,117,602 (GRCm39) |
S911P |
possibly damaging |
Het |
| Ephb2 |
G |
A |
4: 136,421,369 (GRCm39) |
A327V |
possibly damaging |
Het |
| Espl1 |
C |
T |
15: 102,228,878 (GRCm39) |
T1711I |
possibly damaging |
Het |
| Fmnl2 |
A |
G |
2: 52,748,219 (GRCm39) |
K22R |
possibly damaging |
Het |
| Fzd6 |
T |
C |
15: 38,894,358 (GRCm39) |
F175L |
probably damaging |
Het |
| Gm6526 |
A |
G |
14: 43,986,303 (GRCm39) |
I76M |
probably damaging |
Het |
| Gm9881 |
A |
T |
16: 90,967,623 (GRCm39) |
F34I |
unknown |
Het |
| Gm9892 |
T |
C |
8: 52,649,649 (GRCm39) |
D148G |
possibly damaging |
Het |
| Grb10 |
C |
T |
11: 11,884,249 (GRCm39) |
V486I |
probably damaging |
Het |
| Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
| H2bc18 |
G |
T |
3: 96,177,388 (GRCm39) |
L107F |
probably damaging |
Het |
| Hdac4 |
T |
C |
1: 91,957,690 (GRCm39) |
H108R |
possibly damaging |
Het |
| Hmcn1 |
G |
A |
1: 150,648,303 (GRCm39) |
T661I |
probably benign |
Het |
| Icam1 |
T |
A |
9: 20,939,172 (GRCm39) |
I515N |
probably damaging |
Het |
| Ifi208 |
A |
G |
1: 173,523,220 (GRCm39) |
R497G |
possibly damaging |
Het |
| Igsf10 |
A |
T |
3: 59,226,188 (GRCm39) |
V2495E |
probably damaging |
Het |
| Iqgap1 |
T |
C |
7: 80,383,759 (GRCm39) |
M1102V |
probably benign |
Het |
| Itgb4 |
A |
T |
11: 115,874,873 (GRCm39) |
N410I |
probably benign |
Het |
| Jup |
T |
C |
11: 100,270,427 (GRCm39) |
H360R |
possibly damaging |
Het |
| Kif20b |
T |
A |
19: 34,951,896 (GRCm39) |
S1685T |
possibly damaging |
Het |
| Lins1 |
T |
C |
7: 66,361,794 (GRCm39) |
|
probably null |
Het |
| Lrig1 |
T |
A |
6: 94,584,294 (GRCm39) |
T917S |
probably benign |
Het |
| Mast2 |
A |
G |
4: 116,169,152 (GRCm39) |
S814P |
probably damaging |
Het |
| Mast4 |
T |
C |
13: 102,909,027 (GRCm39) |
T483A |
probably damaging |
Het |
| Mcpt1 |
T |
C |
14: 56,256,990 (GRCm39) |
M176T |
probably benign |
Het |
| Mettl22 |
A |
G |
16: 8,291,825 (GRCm39) |
Q38R |
probably damaging |
Het |
| Mrm2 |
T |
C |
5: 140,314,443 (GRCm39) |
T131A |
probably benign |
Het |
| Mtcl2 |
A |
T |
2: 156,862,368 (GRCm39) |
Y1520* |
probably null |
Het |
| Nde1 |
T |
G |
16: 14,003,728 (GRCm39) |
F71V |
probably benign |
Het |
| Nxn |
C |
T |
11: 76,154,013 (GRCm39) |
G274D |
possibly damaging |
Het |
| Or4c123 |
A |
T |
2: 89,127,250 (GRCm39) |
Y121* |
probably null |
Het |
| Or5h17 |
A |
T |
16: 58,820,275 (GRCm39) |
T76S |
probably benign |
Het |
| Or6k14 |
G |
T |
1: 173,927,315 (GRCm39) |
C97F |
probably damaging |
Het |
| Or6p1 |
T |
A |
1: 174,258,209 (GRCm39) |
W72R |
probably damaging |
Het |
| Osbp2 |
T |
C |
11: 3,667,175 (GRCm39) |
|
probably null |
Het |
| Otud7a |
C |
A |
7: 63,404,377 (GRCm39) |
|
probably benign |
Het |
| Phf3 |
G |
A |
1: 30,845,021 (GRCm39) |
L1313F |
probably damaging |
Het |
| Pkhd1 |
A |
T |
1: 20,593,207 (GRCm39) |
D1635E |
probably benign |
Het |
| Plpp1 |
A |
G |
13: 112,996,198 (GRCm39) |
H171R |
probably damaging |
Het |
| Pofut1 |
A |
G |
2: 153,103,166 (GRCm39) |
M172V |
probably damaging |
Het |
| Prmt5 |
A |
G |
14: 54,746,372 (GRCm39) |
F580L |
probably damaging |
Het |
| Rab11fip3 |
A |
T |
17: 26,210,296 (GRCm39) |
L987Q |
probably damaging |
Het |
| Retnlb |
T |
A |
16: 48,639,028 (GRCm39) |
C76* |
probably null |
Het |
| Rnf38 |
T |
C |
4: 44,131,584 (GRCm39) |
N399S |
probably benign |
Het |
| Sbk1 |
A |
G |
7: 125,891,424 (GRCm39) |
E286G |
possibly damaging |
Het |
| Scin |
T |
A |
12: 40,127,501 (GRCm39) |
T430S |
probably benign |
Het |
| Sgsm1 |
T |
A |
5: 113,411,123 (GRCm39) |
T868S |
probably benign |
Het |
| Sipa1l1 |
G |
A |
12: 82,387,885 (GRCm39) |
R37H |
probably damaging |
Het |
| Smchd1 |
A |
T |
17: 71,668,832 (GRCm39) |
|
probably benign |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
| Stk32c |
C |
T |
7: 138,705,095 (GRCm39) |
R23Q |
probably damaging |
Het |
| Sult1d1 |
A |
G |
5: 87,712,598 (GRCm39) |
M82T |
probably benign |
Het |
| Tat |
T |
C |
8: 110,723,550 (GRCm39) |
L346P |
probably damaging |
Het |
| Tenm3 |
C |
A |
8: 48,763,660 (GRCm39) |
G789V |
probably damaging |
Het |
| Thsd7a |
C |
T |
6: 12,338,621 (GRCm39) |
S1203N |
probably benign |
Het |
| Tmem191 |
G |
A |
16: 17,095,826 (GRCm39) |
|
probably null |
Het |
| Tmem268 |
A |
G |
4: 63,498,575 (GRCm39) |
T239A |
probably damaging |
Het |
| Tmem82 |
A |
C |
4: 141,343,589 (GRCm39) |
L227R |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,557,376 (GRCm39) |
I29906N |
probably damaging |
Het |
| Txndc15 |
T |
C |
13: 55,869,387 (GRCm39) |
|
probably benign |
Het |
| Ubqln4 |
A |
G |
3: 88,473,152 (GRCm39) |
I536V |
probably benign |
Het |
| Unc80 |
C |
T |
1: 66,560,740 (GRCm39) |
H823Y |
possibly damaging |
Het |
| Vmn2r102 |
A |
T |
17: 19,914,843 (GRCm39) |
I803F |
probably benign |
Het |
| Vmn2r6 |
G |
T |
3: 64,445,579 (GRCm39) |
Y715* |
probably null |
Het |
| Vmn2r74 |
A |
T |
7: 85,610,618 (GRCm39) |
C25S |
probably damaging |
Het |
| Wdr38 |
A |
G |
2: 38,890,991 (GRCm39) |
T261A |
probably benign |
Het |
| Zfp653 |
T |
C |
9: 21,969,516 (GRCm39) |
E250G |
possibly 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 |
|
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 |
|
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'- GCTATTTTACGCTGACCCCACTGG -3'
(R):5'- AAGCCCTTTATGCTGAGCCCAC -3'
Sequencing Primer
(F):5'- GTGTCCACTCAGGTTTTGAGC -3'
(R):5'- gtaaaaatgactatgacgcaaacc -3'
|
| Posted On |
2014-03-28 |
Incidental Mutation