Incidental Mutation 'R7211:Adamts13'
ID |
561033 |
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 |
045339-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.080)
|
Stock # |
R7211 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
26863428-26899640 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 26879310 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 621
(T621I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099955
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014996]
[ENSMUST00000102891]
|
AlphaFold |
Q769J6 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000014996
AA Change: T621I
PolyPhen 2
Score 0.570 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000014996 Gene: ENSMUSG00000014852 AA Change: T621I
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: T621I
PolyPhen 2
Score 0.395 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000099955 Gene: ENSMUSG00000014852 AA Change: T621I
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
Validation Efficiency |
99% (84/85) |
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: 82 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
a |
T |
A |
2: 154,887,699 (GRCm39) |
V53E |
probably damaging |
Het |
A1cf |
A |
G |
19: 31,904,541 (GRCm39) |
Y268C |
probably benign |
Het |
Adam34l |
T |
A |
8: 44,078,914 (GRCm39) |
S437C |
probably damaging |
Het |
Akr1b7 |
A |
T |
6: 34,398,049 (GRCm39) |
N293Y |
probably benign |
Het |
Angpt2 |
T |
A |
8: 18,791,147 (GRCm39) |
T50S |
probably benign |
Het |
Anks1b |
C |
A |
10: 90,346,932 (GRCm39) |
A744D |
possibly damaging |
Het |
Aqr |
A |
G |
2: 113,965,204 (GRCm39) |
V587A |
probably benign |
Het |
Atm |
A |
G |
9: 53,399,860 (GRCm39) |
V1540A |
probably benign |
Het |
Brd10 |
A |
G |
19: 29,763,712 (GRCm39) |
F121S |
|
Het |
C4b |
A |
G |
17: 34,954,508 (GRCm39) |
V887A |
possibly damaging |
Het |
Cd200r1 |
A |
G |
16: 44,609,120 (GRCm39) |
T26A |
probably benign |
Het |
Ciao1 |
A |
G |
2: 127,088,928 (GRCm39) |
|
probably null |
Het |
Clba1 |
T |
A |
12: 112,774,632 (GRCm39) |
|
probably null |
Het |
Clca3a2 |
A |
G |
3: 144,519,775 (GRCm39) |
C200R |
probably benign |
Het |
Col6a5 |
T |
A |
9: 105,805,363 (GRCm39) |
Q1181L |
unknown |
Het |
Copb2 |
T |
A |
9: 98,456,198 (GRCm39) |
I244N |
probably damaging |
Het |
Cpb2 |
A |
G |
14: 75,512,430 (GRCm39) |
Y281C |
probably damaging |
Het |
Disp3 |
C |
A |
4: 148,325,979 (GRCm39) |
V1260F |
probably damaging |
Het |
Dnajc2 |
C |
T |
5: 21,981,777 (GRCm39) |
R123Q |
probably damaging |
Het |
Dpysl2 |
T |
C |
14: 67,067,425 (GRCm39) |
N162S |
probably damaging |
Het |
Dsp |
T |
A |
13: 38,372,511 (GRCm39) |
|
probably null |
Het |
Edc4 |
T |
A |
8: 106,612,941 (GRCm39) |
|
probably null |
Het |
Efcab3 |
C |
A |
11: 104,601,539 (GRCm39) |
A284D |
probably benign |
Het |
Efcab3 |
G |
T |
11: 104,615,435 (GRCm39) |
|
probably null |
Het |
Epm2a |
T |
C |
10: 11,219,419 (GRCm39) |
Y69H |
probably benign |
Het |
Frzb |
C |
A |
2: 80,248,669 (GRCm39) |
E262* |
probably null |
Het |
Gaa |
T |
C |
11: 119,175,030 (GRCm39) |
V877A |
possibly damaging |
Het |
Gpnmb |
T |
C |
6: 49,028,949 (GRCm39) |
I489T |
possibly damaging |
Het |
Gpr31b |
T |
C |
17: 13,271,104 (GRCm39) |
T22A |
probably benign |
Het |
Gys1 |
T |
A |
7: 45,097,684 (GRCm39) |
F477Y |
possibly damaging |
Het |
Hoxc11 |
A |
C |
15: 102,863,487 (GRCm39) |
E176A |
possibly damaging |
Het |
Kcnk13 |
T |
A |
12: 100,028,076 (GRCm39) |
F384I |
probably damaging |
Het |
Ky |
A |
G |
9: 102,386,349 (GRCm39) |
E59G |
probably benign |
Het |
Lama4 |
T |
A |
10: 38,881,491 (GRCm39) |
D93E |
probably damaging |
Het |
Lrrc23 |
A |
T |
6: 124,755,152 (GRCm39) |
N128K |
probably benign |
Het |
Lrrc71 |
G |
T |
3: 87,650,633 (GRCm39) |
Q210K |
possibly damaging |
Het |
Map1a |
G |
A |
2: 121,135,124 (GRCm39) |
R1980H |
probably benign |
Het |
Med15 |
T |
C |
16: 17,515,977 (GRCm39) |
D15G |
unknown |
Het |
Mfng |
A |
T |
15: 78,657,268 (GRCm39) |
S69T |
probably benign |
Het |
Muc16 |
T |
G |
9: 18,409,866 (GRCm39) |
S181R |
probably damaging |
Het |
Mug1 |
A |
T |
6: 121,857,498 (GRCm39) |
Q1074L |
possibly damaging |
Het |
Myorg |
A |
G |
4: 41,498,028 (GRCm39) |
I534T |
probably damaging |
Het |
Nbea |
T |
A |
3: 55,912,322 (GRCm39) |
N1155I |
probably benign |
Het |
Nbeal1 |
T |
G |
1: 60,240,110 (GRCm39) |
L159V |
probably damaging |
Het |
Nudt1 |
C |
A |
5: 140,323,402 (GRCm39) |
P118Q |
possibly damaging |
Het |
Or2q1 |
A |
T |
6: 42,794,950 (GRCm39) |
T182S |
probably benign |
Het |
Or8g37 |
A |
C |
9: 39,731,154 (GRCm39) |
Q73P |
possibly damaging |
Het |
Pcdhga6 |
T |
A |
18: 37,842,173 (GRCm39) |
V631D |
probably benign |
Het |
Pcna |
A |
C |
2: 132,091,792 (GRCm39) |
V203G |
probably damaging |
Het |
Pgf |
G |
T |
12: 85,222,549 (GRCm39) |
N33K |
probably benign |
Het |
Pgm2 |
T |
C |
5: 64,263,193 (GRCm39) |
L280P |
probably damaging |
Het |
Plcg1 |
G |
A |
2: 160,573,794 (GRCm39) |
A20T |
probably benign |
Het |
Pou2af2 |
G |
T |
9: 51,201,733 (GRCm39) |
Q108K |
probably damaging |
Het |
Prdx5 |
G |
T |
19: 6,884,958 (GRCm39) |
D126E |
probably damaging |
Het |
Prkag2 |
T |
C |
5: 25,200,296 (GRCm39) |
T20A |
probably benign |
Het |
Prr14l |
T |
A |
5: 32,987,431 (GRCm39) |
Q688L |
probably damaging |
Het |
Pxdn |
T |
G |
12: 30,034,903 (GRCm39) |
D253E |
possibly damaging |
Het |
Rbm18 |
A |
T |
2: 36,012,905 (GRCm39) |
C53* |
probably null |
Het |
Rprm |
A |
T |
2: 53,975,270 (GRCm39) |
L16Q |
probably benign |
Het |
Saysd1 |
A |
G |
14: 20,127,576 (GRCm39) |
F116S |
probably damaging |
Het |
Scg3 |
A |
G |
9: 75,589,366 (GRCm39) |
S96P |
probably benign |
Het |
Scgb1b3 |
C |
T |
7: 31,075,078 (GRCm39) |
L16F |
unknown |
Het |
Sh3tc2 |
A |
G |
18: 62,122,474 (GRCm39) |
T412A |
probably benign |
Het |
Skint6 |
T |
C |
4: 113,095,566 (GRCm39) |
N31S |
probably benign |
Het |
Slc22a2 |
T |
C |
17: 12,805,770 (GRCm39) |
|
probably null |
Het |
Slc8a2 |
C |
T |
7: 15,874,538 (GRCm39) |
T262I |
possibly damaging |
Het |
Smarcc1 |
A |
T |
9: 109,979,082 (GRCm39) |
K188N |
probably damaging |
Het |
Taf6 |
T |
C |
5: 138,177,088 (GRCm39) |
T660A |
possibly damaging |
Het |
Tbx2 |
C |
T |
11: 85,725,540 (GRCm39) |
R164C |
probably damaging |
Het |
Tec |
T |
C |
5: 72,939,355 (GRCm39) |
D220G |
probably null |
Het |
Tfec |
A |
T |
6: 16,867,464 (GRCm39) |
W59R |
probably damaging |
Het |
Tmtc2 |
G |
T |
10: 105,409,587 (GRCm39) |
S8R |
probably benign |
Het |
Tmtc3 |
A |
T |
10: 100,283,467 (GRCm39) |
M696K |
probably benign |
Het |
Trpc3 |
A |
T |
3: 36,694,882 (GRCm39) |
S691T |
possibly damaging |
Het |
Ttf2 |
A |
T |
3: 100,866,623 (GRCm39) |
M503K |
probably benign |
Het |
Ttll7 |
A |
G |
3: 146,619,031 (GRCm39) |
H312R |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,598,032 (GRCm39) |
Y19627C |
probably damaging |
Het |
Ugt2b35 |
T |
C |
5: 87,149,177 (GRCm39) |
S143P |
probably benign |
Het |
Usp53 |
A |
G |
3: 122,751,299 (GRCm39) |
S253P |
probably damaging |
Het |
Utp18 |
A |
G |
11: 93,776,206 (GRCm39) |
V93A |
probably benign |
Het |
Utrn |
T |
C |
10: 12,277,079 (GRCm39) |
N3413D |
possibly damaging |
Het |
Zhx1 |
T |
C |
15: 57,916,647 (GRCm39) |
D533G |
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 |
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 |
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 |
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'- TAGACCCTGTTGGCTGAGAG -3'
(R):5'- GCAGATAGCCAGAGTCACTAG -3'
Sequencing Primer
(F):5'- CCTGTTGGCTGAGAGCTTCC -3'
(R):5'- CCAGAGTCACTAGGAGAGGCC -3'
|
Posted On |
2019-06-26 |