Incidental Mutation 'R0369:Adamts13'
| ID |
30355 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adamts13
|
| Ensembl Gene |
ENSMUSG00000014852 |
| Gene Name |
a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 13 |
| Synonyms |
vWF-CP mRNA for von Willebrand factor-cleaving, LOC279028 |
| MMRRC Submission |
038575-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
R0369 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
26973416-27009628 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 27005186 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 1096
(D1096E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099955
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102891]
[ENSMUST00000114004]
[ENSMUST00000114005]
[ENSMUST00000114006]
[ENSMUST00000114007]
|
| AlphaFold |
Q769J6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102891
AA Change: D1096E
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000099955
Gene: ENSMUSG00000014852
AA Change: D1096E
| 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: 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 |
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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147216
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 97.9%
- 10x: 94.8%
- 20x: 87.0%
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921528I07Rik |
G |
A |
9: 114,300,009 (GRCm38) |
|
noncoding transcript |
Het |
| Aadacl2 |
T |
A |
3: 60,024,722 (GRCm38) |
Y219* |
probably null |
Het |
| Adamts16 |
T |
G |
13: 70,779,552 (GRCm38) |
K523Q |
possibly damaging |
Het |
| Adcy2 |
A |
G |
13: 68,671,900 (GRCm38) |
F740S |
probably benign |
Het |
| Carmil1 |
T |
A |
13: 24,082,020 (GRCm38) |
N253I |
probably damaging |
Het |
| Ccdc97 |
T |
C |
7: 25,714,408 (GRCm38) |
T283A |
probably damaging |
Het |
| Cmpk2 |
G |
T |
12: 26,477,151 (GRCm38) |
E380* |
probably null |
Het |
| Csmd3 |
A |
G |
15: 47,970,147 (GRCm38) |
I911T |
probably damaging |
Het |
| Cyp2c39 |
T |
C |
19: 39,513,635 (GRCm38) |
L156P |
probably damaging |
Het |
| D7Ertd443e |
T |
C |
7: 134,298,137 (GRCm38) |
I499V |
possibly damaging |
Het |
| Dhx58 |
A |
C |
11: 100,701,548 (GRCm38) |
|
probably null |
Het |
| Dip2a |
C |
T |
10: 76,298,787 (GRCm38) |
G390S |
probably damaging |
Het |
| Dusp10 |
A |
G |
1: 184,069,056 (GRCm38) |
D340G |
probably damaging |
Het |
| Epha1 |
A |
T |
6: 42,365,473 (GRCm38) |
C314S |
probably damaging |
Het |
| Exph5 |
A |
T |
9: 53,373,302 (GRCm38) |
H561L |
probably benign |
Het |
| Fbxw26 |
A |
G |
9: 109,723,712 (GRCm38) |
|
probably null |
Het |
| Foxc1 |
A |
C |
13: 31,807,512 (GRCm38) |
N102T |
probably damaging |
Het |
| Fsip2 |
T |
C |
2: 82,984,564 (GRCm38) |
I3547T |
probably benign |
Het |
| Gm5464 |
G |
T |
14: 66,869,325 (GRCm38) |
|
probably benign |
Het |
| Gnptab |
C |
T |
10: 88,433,594 (GRCm38) |
R720C |
possibly damaging |
Het |
| Greb1l |
T |
C |
18: 10,469,375 (GRCm38) |
V130A |
possibly damaging |
Het |
| Hmg20a |
A |
T |
9: 56,487,650 (GRCm38) |
D216V |
probably damaging |
Het |
| Hnrnpul2 |
C |
A |
19: 8,824,413 (GRCm38) |
D328E |
probably damaging |
Het |
| Hsh2d |
G |
A |
8: 72,200,460 (GRCm38) |
D229N |
probably benign |
Het |
| Ift172 |
T |
C |
5: 31,253,641 (GRCm38) |
Y1691C |
probably damaging |
Het |
| Kremen2 |
T |
C |
17: 23,742,810 (GRCm38) |
D241G |
probably benign |
Het |
| Meis2 |
T |
C |
2: 116,063,416 (GRCm38) |
D5G |
possibly damaging |
Het |
| Mrps5 |
G |
A |
2: 127,591,829 (GRCm38) |
R46K |
probably benign |
Het |
| Myh14 |
C |
T |
7: 44,660,950 (GRCm38) |
V170M |
probably damaging |
Het |
| Nexn |
T |
C |
3: 152,248,257 (GRCm38) |
N123D |
probably benign |
Het |
| Olfr1423 |
A |
T |
19: 12,036,401 (GRCm38) |
S114T |
probably benign |
Het |
| Olfr606 |
T |
A |
7: 103,452,216 (GRCm38) |
I293N |
probably damaging |
Het |
| Olfr742 |
T |
A |
14: 50,515,825 (GRCm38) |
M207K |
probably benign |
Het |
| Pacs1 |
C |
T |
19: 5,141,698 (GRCm38) |
V704M |
probably damaging |
Het |
| Papolg |
A |
G |
11: 23,872,425 (GRCm38) |
|
probably null |
Het |
| Pdlim3 |
T |
C |
8: 45,917,506 (GRCm38) |
V281A |
probably benign |
Het |
| Plpp4 |
T |
G |
7: 129,323,466 (GRCm38) |
F142V |
probably damaging |
Het |
| Prb1 |
G |
A |
6: 132,207,657 (GRCm38) |
Q338* |
probably null |
Het |
| Psg26 |
G |
T |
7: 18,482,556 (GRCm38) |
Y119* |
probably null |
Het |
| Ptger4 |
A |
G |
15: 5,243,010 (GRCm38) |
C68R |
probably benign |
Het |
| Ptpre |
T |
A |
7: 135,670,715 (GRCm38) |
I399N |
probably damaging |
Het |
| Ripply2 |
A |
G |
9: 87,016,319 (GRCm38) |
Y72C |
probably damaging |
Het |
| Rp1l1 |
T |
A |
14: 64,029,388 (GRCm38) |
S808T |
possibly damaging |
Het |
| Scn5a |
G |
A |
9: 119,533,772 (GRCm38) |
T594I |
probably damaging |
Het |
| Sf3b1 |
T |
C |
1: 54,998,108 (GRCm38) |
D883G |
probably benign |
Het |
| Skint5 |
A |
T |
4: 113,512,023 (GRCm38) |
|
probably null |
Het |
| Terf1 |
A |
G |
1: 15,818,983 (GRCm38) |
H212R |
probably damaging |
Het |
| Tmco5 |
T |
G |
2: 116,880,788 (GRCm38) |
|
probably null |
Het |
| Tnfaip3 |
A |
T |
10: 19,006,912 (GRCm38) |
Y252* |
probably null |
Het |
| Tnrc6a |
T |
A |
7: 123,170,860 (GRCm38) |
N624K |
probably damaging |
Het |
| Top3a |
C |
A |
11: 60,742,789 (GRCm38) |
R827L |
probably damaging |
Het |
| Unc79 |
G |
A |
12: 103,088,772 (GRCm38) |
|
probably null |
Het |
| Usp20 |
T |
C |
2: 31,011,104 (GRCm38) |
S422P |
probably benign |
Het |
| Utrn |
T |
C |
10: 12,634,022 (GRCm38) |
E2402G |
probably benign |
Het |
| Wdr3 |
G |
A |
3: 100,156,418 (GRCm38) |
Q181* |
probably null |
Het |
| Zfp536 |
T |
C |
7: 37,567,948 (GRCm38) |
E681G |
probably damaging |
Het |
| Zfp91 |
C |
T |
19: 12,770,074 (GRCm38) |
V562I |
possibly damaging |
Het |
| Zfp942 |
A |
T |
17: 21,929,036 (GRCm38) |
I204N |
probably benign |
Het |
|
| Other mutations in Adamts13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00089:Adamts13
|
APN |
2 |
27,005,361 (GRCm38) |
missense |
probably benign |
0.04 |
|
IGL00465:Adamts13
|
APN |
2 |
26,973,555 (GRCm38) |
missense |
probably benign |
0.32 |
|
IGL01114:Adamts13
|
APN |
2 |
27,005,190 (GRCm38) |
missense |
probably benign |
0.41 |
|
IGL01138:Adamts13
|
APN |
2 |
26,983,042 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01154:Adamts13
|
APN |
2 |
27,006,194 (GRCm38) |
missense |
probably benign |
|
|
IGL01860:Adamts13
|
APN |
2 |
26,978,011 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL01924:Adamts13
|
APN |
2 |
26,996,583 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
IGL01991:Adamts13
|
APN |
2 |
26,990,598 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL02215:Adamts13
|
APN |
2 |
26,985,483 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02415:Adamts13
|
APN |
2 |
26,989,283 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
IGL02519:Adamts13
|
APN |
2 |
26,978,675 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02956:Adamts13
|
APN |
2 |
26,983,037 (GRCm38) |
missense |
probably benign |
0.18 |
|
IGL03209:Adamts13
|
APN |
2 |
26,992,961 (GRCm38) |
missense |
probably benign |
0.00 |
|
I1329:Adamts13
|
UTSW |
2 |
26,973,619 (GRCm38) |
missense |
possibly damaging |
0.52 |
|
IGL02837:Adamts13
|
UTSW |
2 |
26,991,420 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL03048:Adamts13
|
UTSW |
2 |
26,978,699 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0041:Adamts13
|
UTSW |
2 |
26,983,974 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0217:Adamts13
|
UTSW |
2 |
26,996,921 (GRCm38) |
splice site |
probably benign |
|
|
R0276:Adamts13
|
UTSW |
2 |
26,975,760 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R0309:Adamts13
|
UTSW |
2 |
26,986,989 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0348:Adamts13
|
UTSW |
2 |
26,981,080 (GRCm38) |
missense |
probably benign |
0.13 |
|
R0386:Adamts13
|
UTSW |
2 |
26,986,679 (GRCm38) |
splice site |
probably null |
|
|
R0553:Adamts13
|
UTSW |
2 |
26,991,334 (GRCm38) |
nonsense |
probably null |
|
|
R0714:Adamts13
|
UTSW |
2 |
26,986,985 (GRCm38) |
splice site |
probably benign |
|
|
R0862:Adamts13
|
UTSW |
2 |
27,006,324 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1320:Adamts13
|
UTSW |
2 |
26,989,246 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R1458:Adamts13
|
UTSW |
2 |
26,988,354 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1473:Adamts13
|
UTSW |
2 |
26,981,753 (GRCm38) |
nonsense |
probably null |
|
|
R1491:Adamts13
|
UTSW |
2 |
26,978,315 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1588:Adamts13
|
UTSW |
2 |
26,975,675 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1638:Adamts13
|
UTSW |
2 |
26,996,583 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R1724:Adamts13
|
UTSW |
2 |
26,991,294 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1924:Adamts13
|
UTSW |
2 |
26,984,141 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2001:Adamts13
|
UTSW |
2 |
26,973,990 (GRCm38) |
missense |
probably benign |
|
|
R2072:Adamts13
|
UTSW |
2 |
27,005,425 (GRCm38) |
missense |
probably benign |
0.10 |
|
R2073:Adamts13
|
UTSW |
2 |
27,006,314 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2409:Adamts13
|
UTSW |
2 |
26,978,362 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4362:Adamts13
|
UTSW |
2 |
27,004,782 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4363:Adamts13
|
UTSW |
2 |
27,004,782 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4422:Adamts13
|
UTSW |
2 |
27,005,400 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4769:Adamts13
|
UTSW |
2 |
27,008,711 (GRCm38) |
nonsense |
probably null |
|
|
R4785:Adamts13
|
UTSW |
2 |
26,983,042 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4831:Adamts13
|
UTSW |
2 |
26,983,130 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4832:Adamts13
|
UTSW |
2 |
26,989,402 (GRCm38) |
missense |
probably benign |
0.22 |
|
R4945:Adamts13
|
UTSW |
2 |
26,986,610 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5047:Adamts13
|
UTSW |
2 |
26,996,910 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5126:Adamts13
|
UTSW |
2 |
26,996,915 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5161:Adamts13
|
UTSW |
2 |
26,993,008 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5394:Adamts13
|
UTSW |
2 |
26,986,558 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5557:Adamts13
|
UTSW |
2 |
26,973,639 (GRCm38) |
missense |
probably benign |
0.05 |
|
R5660:Adamts13
|
UTSW |
2 |
26,996,749 (GRCm38) |
missense |
probably benign |
|
|
R5890:Adamts13
|
UTSW |
2 |
26,986,591 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R6168:Adamts13
|
UTSW |
2 |
27,004,886 (GRCm38) |
missense |
probably benign |
0.37 |
|
R6536:Adamts13
|
UTSW |
2 |
26,975,750 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6929:Adamts13
|
UTSW |
2 |
27,006,263 (GRCm38) |
nonsense |
probably null |
|
|
R7207:Adamts13
|
UTSW |
2 |
26,978,695 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7211:Adamts13
|
UTSW |
2 |
26,989,298 (GRCm38) |
missense |
probably benign |
0.40 |
|
R7212:Adamts13
|
UTSW |
2 |
27,006,314 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7392:Adamts13
|
UTSW |
2 |
26,989,324 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7583:Adamts13
|
UTSW |
2 |
26,973,953 (GRCm38) |
missense |
probably benign |
|
|
R7604:Adamts13
|
UTSW |
2 |
27,005,206 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7783:Adamts13
|
UTSW |
2 |
26,990,585 (GRCm38) |
missense |
not run |
|
|
R7814:Adamts13
|
UTSW |
2 |
26,996,549 (GRCm38) |
missense |
probably benign |
|
|
R8076:Adamts13
|
UTSW |
2 |
26,990,612 (GRCm38) |
missense |
probably benign |
0.06 |
|
R8245:Adamts13
|
UTSW |
2 |
26,990,556 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8526:Adamts13
|
UTSW |
2 |
26,978,000 (GRCm38) |
missense |
probably benign |
|
|
R9112:Adamts13
|
UTSW |
2 |
26,990,367 (GRCm38) |
missense |
possibly damaging |
0.60 |
|
R9147:Adamts13
|
UTSW |
2 |
26,993,012 (GRCm38) |
missense |
probably benign |
|
|
R9148:Adamts13
|
UTSW |
2 |
26,993,012 (GRCm38) |
missense |
probably benign |
|
|
R9704:Adamts13
|
UTSW |
2 |
27,005,225 (GRCm38) |
missense |
|
|
|
R9743:Adamts13
|
UTSW |
2 |
27,005,479 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9743:Adamts13
|
UTSW |
2 |
26,996,800 (GRCm38) |
missense |
probably benign |
0.16 |
|
X0027:Adamts13
|
UTSW |
2 |
26,985,546 (GRCm38) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCTTGGCACTGCCACACAAATG -3'
(R):5'- AAGCAACAGTAGCAGCAGCCTG -3'
Sequencing Primer
(F):5'- ATTCCGGTGGCACATCAG -3'
(R):5'- CCTGGGTCTGACTGGGAAG -3'
|
| Posted On |
2013-04-24 |
Incidental Mutation