Incidental Mutation 'R6168:Adamts13'
ID |
490231 |
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 |
044430-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.080)
|
Stock # |
R6168 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
26863428-26899640 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 26894898 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Serine
at position 1069
(A1069S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099955
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102891]
|
AlphaFold |
Q769J6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000102891
AA Change: A1069S
PolyPhen 2
Score 0.366 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000099955 Gene: ENSMUSG00000014852 AA Change: A1069S
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 |
noncoding transcript
Transcript: ENSMUST00000147216
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.1%
|
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4932414N04Rik |
C |
T |
2: 68,571,827 (GRCm39) |
L568F |
possibly damaging |
Het |
Adam3 |
A |
T |
8: 25,171,630 (GRCm39) |
|
probably null |
Het |
Adarb1 |
A |
G |
10: 77,158,153 (GRCm39) |
L98P |
probably damaging |
Het |
Ahnak2 |
T |
C |
12: 112,747,750 (GRCm39) |
E1035G |
probably benign |
Het |
Alox12b |
T |
A |
11: 69,060,460 (GRCm39) |
I672N |
probably damaging |
Het |
Ark2n |
A |
G |
18: 77,761,653 (GRCm39) |
S220P |
probably damaging |
Het |
Ash1l |
C |
T |
3: 88,960,080 (GRCm39) |
R2271* |
probably null |
Het |
Atf7ip |
A |
G |
6: 136,536,817 (GRCm39) |
T17A |
probably damaging |
Het |
Col6a5 |
A |
G |
9: 105,752,986 (GRCm39) |
|
probably null |
Het |
Crcp |
A |
G |
5: 130,066,737 (GRCm39) |
N41S |
probably damaging |
Het |
Defb15 |
A |
C |
8: 22,420,069 (GRCm39) |
N19K |
possibly damaging |
Het |
Dnah7a |
T |
A |
1: 53,450,727 (GRCm39) |
D3901V |
probably damaging |
Het |
Dnah7b |
A |
C |
1: 46,329,863 (GRCm39) |
T3236P |
probably damaging |
Het |
Dnmbp |
A |
G |
19: 43,838,679 (GRCm39) |
S608P |
probably damaging |
Het |
Efcab12 |
T |
C |
6: 115,791,577 (GRCm39) |
K532E |
probably damaging |
Het |
Fbrsl1 |
C |
T |
5: 110,543,922 (GRCm39) |
V54M |
probably damaging |
Het |
Gm14496 |
T |
A |
2: 181,642,750 (GRCm39) |
V807E |
probably damaging |
Het |
Hoxa2 |
A |
G |
6: 52,140,461 (GRCm39) |
L175P |
probably damaging |
Het |
Igkv4-58 |
A |
C |
6: 69,477,281 (GRCm39) |
D105E |
probably damaging |
Het |
Igkv8-27 |
A |
T |
6: 70,148,880 (GRCm39) |
S91R |
probably benign |
Het |
Itgax |
T |
C |
7: 127,732,269 (GRCm39) |
V175A |
probably damaging |
Het |
Kcnc2 |
A |
G |
10: 112,291,661 (GRCm39) |
D283G |
probably benign |
Het |
Lepr |
G |
A |
4: 101,592,789 (GRCm39) |
G135R |
probably damaging |
Het |
Mcf2l |
A |
G |
8: 13,051,823 (GRCm39) |
S378G |
probably benign |
Het |
Mta1 |
T |
A |
12: 113,086,739 (GRCm39) |
D145E |
probably damaging |
Het |
Nkd1 |
T |
A |
8: 89,311,859 (GRCm39) |
N44K |
probably damaging |
Het |
Notch2 |
A |
G |
3: 98,052,533 (GRCm39) |
K2010E |
probably damaging |
Het |
Nsd3 |
G |
A |
8: 26,181,188 (GRCm39) |
G930S |
probably null |
Het |
Or2w1 |
T |
G |
13: 21,317,399 (GRCm39) |
I151M |
possibly damaging |
Het |
Or6c203 |
A |
G |
10: 129,010,035 (GRCm39) |
F285S |
probably damaging |
Het |
Or8g35 |
A |
G |
9: 39,381,953 (GRCm39) |
L23P |
probably damaging |
Het |
Or8k3 |
T |
G |
2: 86,058,938 (GRCm39) |
I126L |
probably damaging |
Het |
Or8u8 |
T |
C |
2: 86,012,309 (GRCm39) |
I49V |
probably damaging |
Het |
Pde4c |
G |
A |
8: 71,202,688 (GRCm39) |
E625K |
probably benign |
Het |
Pdgfb |
T |
C |
15: 79,884,587 (GRCm39) |
T151A |
probably benign |
Het |
Pik3r5 |
T |
C |
11: 68,383,501 (GRCm39) |
V440A |
probably benign |
Het |
Piwil2 |
T |
C |
14: 70,632,800 (GRCm39) |
T591A |
probably benign |
Het |
Ppm1l |
A |
G |
3: 69,456,740 (GRCm39) |
D219G |
probably damaging |
Het |
Psmc6 |
T |
C |
14: 45,581,140 (GRCm39) |
I312T |
probably damaging |
Het |
Rasl10a |
T |
C |
11: 5,008,442 (GRCm39) |
V46A |
possibly damaging |
Het |
Rhov |
T |
C |
2: 119,101,453 (GRCm39) |
Y51C |
probably damaging |
Het |
S100a16 |
C |
T |
3: 90,449,879 (GRCm39) |
Q121* |
probably null |
Het |
Slc5a12 |
T |
C |
2: 110,447,089 (GRCm39) |
V199A |
probably damaging |
Het |
Slc6a7 |
A |
T |
18: 61,134,734 (GRCm39) |
M447K |
probably benign |
Het |
Tarbp1 |
A |
G |
8: 127,175,144 (GRCm39) |
V764A |
possibly damaging |
Het |
Vmn1r197 |
T |
C |
13: 22,512,678 (GRCm39) |
Y200H |
possibly damaging |
Het |
Vmn2r102 |
G |
A |
17: 19,914,402 (GRCm39) |
A656T |
possibly damaging |
Het |
Vmn2r49 |
G |
T |
7: 9,718,713 (GRCm39) |
D450E |
probably benign |
Het |
Wdr7 |
T |
A |
18: 63,911,048 (GRCm39) |
N813K |
probably damaging |
Het |
Yeats2 |
T |
C |
16: 19,998,308 (GRCm39) |
S288P |
probably benign |
Het |
Zfta |
T |
C |
19: 7,400,305 (GRCm39) |
V257A |
probably benign |
Het |
Zswim6 |
G |
A |
13: 107,924,299 (GRCm39) |
|
noncoding transcript |
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 |
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 |
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'- GCCCAAATAGCTGTCATTGG -3'
(R):5'- GTTTGGATCACCTCGCCTTG -3'
Sequencing Primer
(F):5'- CCCAAATAGCTGTCATTGGAATCTTC -3'
(R):5'- GTGTCCCTGGCTCTAAGAGTACAC -3'
|
Posted On |
2017-10-10 |