Incidental Mutation 'R2073:Adamts13'
| ID |
227295 |
| 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 |
040078-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.092)
|
| Stock # |
R2073 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
26863428-26899640 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 26896326 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 1240
(C1240S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099955
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102891]
[ENSMUST00000114003]
[ENSMUST00000114004]
[ENSMUST00000114005]
[ENSMUST00000114006]
[ENSMUST00000114007]
|
| AlphaFold |
Q769J6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102891
AA Change: C1240S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099955
Gene: ENSMUSG00000014852
AA Change: C1240S
| 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 benign
Transcript: ENSMUST00000114003
|
| SMART Domains |
Protein: ENSMUSP00000109636
Gene: ENSMUSG00000015488
| Domain | Start | End | E-Value | Type |
|---|
|
Cg6151-P
|
1 |
80 |
6.19e-34 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114004
|
| SMART Domains |
Protein: ENSMUSP00000109637
Gene: ENSMUSG00000015488
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
17 |
N/A |
INTRINSIC |
|
Cg6151-P
|
33 |
106 |
7.88e-18 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114005
|
| SMART Domains |
Protein: ENSMUSP00000109638
Gene: ENSMUSG00000015488
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
17 |
N/A |
INTRINSIC |
|
Cg6151-P
|
33 |
114 |
5.53e-22 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114006
|
| SMART Domains |
Protein: ENSMUSP00000109639
Gene: ENSMUSG00000015488
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
17 |
N/A |
INTRINSIC |
|
Cg6151-P
|
33 |
142 |
2.87e-61 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114007
|
| SMART Domains |
Protein: ENSMUSP00000109640
Gene: ENSMUSG00000015488
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
17 |
N/A |
INTRINSIC |
|
Cg6151-P
|
33 |
142 |
2.87e-61 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133126
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147216
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133807
|
| SMART Domains |
Protein: ENSMUSP00000122562
Gene: ENSMUSG00000015488
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
29 |
42 |
N/A |
INTRINSIC |
|
Cg6151-P
|
53 |
118 |
8.02e-10 |
SMART |
|
| Meta Mutation Damage Score |
0.8718 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
|
| 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: 86 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310057M21Rik |
T |
C |
7: 130,959,242 (GRCm39) |
R153G |
probably benign |
Het |
| 5730596B20Rik |
C |
A |
6: 52,155,962 (GRCm39) |
Y9* |
probably null |
Het |
| Aco1 |
G |
A |
4: 40,183,605 (GRCm39) |
G508S |
probably damaging |
Het |
| Acot3 |
A |
G |
12: 84,100,230 (GRCm39) |
H2R |
possibly damaging |
Het |
| Adra1b |
T |
C |
11: 43,726,698 (GRCm39) |
N73S |
probably damaging |
Het |
| Aebp2 |
G |
A |
6: 140,579,420 (GRCm39) |
S219N |
probably benign |
Het |
| Akap8l |
C |
T |
17: 32,551,457 (GRCm39) |
R511H |
probably damaging |
Het |
| Ank |
T |
C |
15: 27,565,108 (GRCm39) |
S270P |
probably benign |
Het |
| Ankle1 |
G |
A |
8: 71,861,973 (GRCm39) |
R492H |
possibly damaging |
Het |
| Ankub1 |
G |
A |
3: 57,599,713 (GRCm39) |
H19Y |
possibly damaging |
Het |
| Anln |
C |
A |
9: 22,244,464 (GRCm39) |
W1083L |
probably benign |
Het |
| Apaf1 |
G |
T |
10: 90,867,556 (GRCm39) |
S763* |
probably null |
Het |
| Apba3 |
A |
G |
10: 81,105,128 (GRCm39) |
T134A |
probably benign |
Het |
| Armh3 |
A |
T |
19: 45,953,820 (GRCm39) |
I188K |
probably damaging |
Het |
| Bod1l |
C |
T |
5: 41,976,532 (GRCm39) |
S1594N |
probably benign |
Het |
| C7 |
T |
C |
15: 5,019,910 (GRCm39) |
M746V |
probably benign |
Het |
| Cdkn2a |
T |
A |
4: 89,212,730 (GRCm39) |
I11F |
possibly damaging |
Het |
| Cideb |
T |
C |
14: 55,992,617 (GRCm39) |
M100V |
possibly damaging |
Het |
| Cntnap5c |
T |
C |
17: 58,612,547 (GRCm39) |
L862P |
possibly damaging |
Het |
| Coch |
A |
T |
12: 51,649,472 (GRCm39) |
D261V |
probably benign |
Het |
| Cyp2ab1 |
A |
G |
16: 20,132,639 (GRCm39) |
F220L |
possibly damaging |
Het |
| Ddx10 |
A |
T |
9: 53,151,805 (GRCm39) |
D73E |
probably benign |
Het |
| Dgkg |
A |
G |
16: 22,384,067 (GRCm39) |
F462S |
probably damaging |
Het |
| Dlgap3 |
C |
T |
4: 127,089,159 (GRCm39) |
H252Y |
probably damaging |
Het |
| Dmd |
G |
C |
X: 83,356,089 (GRCm39) |
A2257P |
probably benign |
Het |
| Dnaaf6rt |
A |
G |
1: 31,262,077 (GRCm39) |
S20G |
probably benign |
Het |
| Dnai4 |
G |
A |
4: 102,907,390 (GRCm39) |
T632M |
probably damaging |
Het |
| Dtnb |
A |
G |
12: 3,831,273 (GRCm39) |
T658A |
probably benign |
Het |
| Duox2 |
T |
A |
2: 122,125,639 (GRCm39) |
S323C |
probably damaging |
Het |
| Dync1h1 |
T |
A |
12: 110,581,026 (GRCm39) |
I251N |
probably damaging |
Het |
| Eml5 |
A |
G |
12: 98,768,705 (GRCm39) |
S1457P |
probably damaging |
Het |
| Fam114a1 |
T |
A |
5: 65,153,247 (GRCm39) |
|
probably null |
Het |
| Fcho1 |
A |
T |
8: 72,163,133 (GRCm39) |
L632Q |
probably damaging |
Het |
| Gm12695 |
T |
C |
4: 96,612,182 (GRCm39) |
Y527C |
possibly damaging |
Het |
| Gm16223 |
T |
C |
5: 42,371,942 (GRCm39) |
C111R |
unknown |
Het |
| H2-Q4 |
T |
A |
17: 35,599,378 (GRCm39) |
S154T |
possibly damaging |
Het |
| Hhat |
A |
G |
1: 192,409,687 (GRCm39) |
F125L |
possibly damaging |
Het |
| Ier5l |
T |
A |
2: 30,363,068 (GRCm39) |
D319V |
probably damaging |
Het |
| Kif5a |
T |
C |
10: 127,081,238 (GRCm39) |
D232G |
probably damaging |
Het |
| M1ap |
A |
G |
6: 82,958,863 (GRCm39) |
I165V |
probably benign |
Het |
| Map2k4 |
A |
C |
11: 65,584,282 (GRCm39) |
F334V |
probably damaging |
Het |
| Mmp19 |
G |
A |
10: 128,630,848 (GRCm39) |
R156H |
probably damaging |
Het |
| Mpped2 |
T |
A |
2: 106,575,147 (GRCm39) |
Y77* |
probably null |
Het |
| Nhs |
T |
A |
X: 160,625,717 (GRCm39) |
H544L |
probably damaging |
Het |
| Nr4a1 |
C |
A |
15: 101,171,948 (GRCm39) |
H541N |
probably damaging |
Het |
| Or4a74 |
A |
G |
2: 89,439,822 (GRCm39) |
V208A |
probably benign |
Het |
| Or5b122 |
A |
T |
19: 13,562,965 (GRCm39) |
Q99L |
probably damaging |
Het |
| Pak6 |
A |
C |
2: 118,519,332 (GRCm39) |
N17T |
probably damaging |
Het |
| Pcnt |
T |
A |
10: 76,216,214 (GRCm39) |
T2225S |
possibly damaging |
Het |
| Pdzd2 |
A |
G |
15: 12,385,905 (GRCm39) |
L955P |
probably damaging |
Het |
| Phf21a |
A |
G |
2: 92,178,381 (GRCm39) |
D357G |
probably damaging |
Het |
| Pkhd1l1 |
G |
T |
15: 44,422,035 (GRCm39) |
A3102S |
probably damaging |
Het |
| Plch2 |
A |
T |
4: 155,074,366 (GRCm39) |
L754Q |
probably damaging |
Het |
| Plekhd1 |
A |
G |
12: 80,768,066 (GRCm39) |
N335D |
probably benign |
Het |
| Pole |
C |
A |
5: 110,473,417 (GRCm39) |
T1737N |
probably damaging |
Het |
| Potefam1 |
T |
C |
2: 111,030,763 (GRCm39) |
E382G |
probably damaging |
Het |
| Pramel6 |
G |
A |
2: 87,339,088 (GRCm39) |
S96N |
probably damaging |
Het |
| Prdm14 |
A |
C |
1: 13,195,954 (GRCm39) |
Y36D |
possibly damaging |
Het |
| Psg27 |
T |
C |
7: 18,294,342 (GRCm39) |
D355G |
probably damaging |
Het |
| Rfc1 |
A |
T |
5: 65,459,282 (GRCm39) |
D225E |
probably damaging |
Het |
| Sec16a |
A |
G |
2: 26,330,251 (GRCm39) |
I588T |
probably damaging |
Het |
| Setd6 |
G |
A |
8: 96,443,416 (GRCm39) |
V60M |
probably damaging |
Het |
| Sgk3 |
A |
G |
1: 9,961,649 (GRCm39) |
I432V |
probably benign |
Het |
| Six2 |
A |
G |
17: 85,994,933 (GRCm39) |
S150P |
probably damaging |
Het |
| Slc1a6 |
T |
C |
10: 78,635,964 (GRCm39) |
V343A |
possibly damaging |
Het |
| Slc43a3 |
T |
C |
2: 84,774,956 (GRCm39) |
|
probably null |
Het |
| Smc3 |
A |
G |
19: 53,619,964 (GRCm39) |
D620G |
probably benign |
Het |
| Smg6 |
C |
G |
11: 74,821,120 (GRCm39) |
P464A |
probably damaging |
Het |
| Sox11 |
T |
C |
12: 27,392,278 (GRCm39) |
T44A |
possibly damaging |
Het |
| Spata22 |
A |
G |
11: 73,227,052 (GRCm39) |
R89G |
possibly damaging |
Het |
| Spmip6 |
A |
G |
4: 41,507,519 (GRCm39) |
|
probably null |
Het |
| Stk3 |
T |
C |
15: 34,959,195 (GRCm39) |
M256V |
possibly damaging |
Het |
| Syne2 |
A |
G |
12: 76,062,353 (GRCm39) |
D4226G |
possibly damaging |
Het |
| Tecpr2 |
T |
C |
12: 110,934,863 (GRCm39) |
S1370P |
possibly damaging |
Het |
| Tek |
A |
G |
4: 94,715,966 (GRCm39) |
I463V |
probably benign |
Het |
| Trib1 |
T |
A |
15: 59,526,189 (GRCm39) |
I253N |
probably damaging |
Het |
| Triobp |
G |
T |
15: 78,858,095 (GRCm39) |
G1232V |
probably damaging |
Het |
| Trpm6 |
G |
A |
19: 18,853,406 (GRCm39) |
V1809M |
probably damaging |
Het |
| Tsc22d4 |
A |
G |
5: 137,760,749 (GRCm39) |
K57E |
possibly damaging |
Het |
| Vmn2r109 |
T |
A |
17: 20,784,974 (GRCm39) |
K15N |
probably benign |
Het |
| Wnt9a |
A |
G |
11: 59,222,055 (GRCm39) |
N318D |
probably damaging |
Het |
| Wwp1 |
A |
G |
4: 19,662,181 (GRCm39) |
V138A |
possibly damaging |
Het |
| Zfp37 |
A |
T |
4: 62,109,945 (GRCm39) |
M411K |
probably damaging |
Het |
| Zfp715 |
T |
A |
7: 42,960,544 (GRCm39) |
T16S |
probably benign |
Het |
| Zfp932 |
A |
G |
5: 110,157,684 (GRCm39) |
T461A |
possibly damaging |
Het |
| Zscan29 |
A |
T |
2: 120,991,336 (GRCm39) |
C817* |
probably null |
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 |
|
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'- AGGCCTACTTACTCTGTTCTGG -3'
(R):5'- GGGCTGAGTTCCAATTACCAC -3'
Sequencing Primer
(F):5'- GTTCTGGCCACCTCACC -3'
(R):5'- CCCTCTTACTGGCTAATGTGACAAAG -3'
|
| Posted On |
2014-09-17 |
Incidental Mutation