Incidental Mutation 'R0348:Adamts13'
ID |
35966 |
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 |
038555-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.080)
|
Stock # |
R0348 (G1)
|
Quality Score |
132 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
26863428-26899640 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 26871092 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Alanine
at position 235
(D235A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000014996
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014996]
[ENSMUST00000102891]
|
AlphaFold |
Q769J6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000014996
AA Change: D235A
PolyPhen 2
Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000014996 Gene: ENSMUSG00000014852 AA Change: D235A
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: D235A
PolyPhen 2
Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000099955 Gene: ENSMUSG00000014852 AA Change: D235A
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: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.5%
|
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921536K21Rik |
T |
C |
11: 3,844,987 (GRCm39) |
D34G |
probably benign |
Het |
Adam6a |
T |
C |
12: 113,508,337 (GRCm39) |
S237P |
probably damaging |
Het |
Adgb |
T |
A |
10: 10,233,623 (GRCm39) |
M1259L |
probably benign |
Het |
Apbb1 |
T |
C |
7: 105,214,510 (GRCm39) |
Q529R |
probably damaging |
Het |
Bcl2 |
G |
A |
1: 106,640,292 (GRCm39) |
R107C |
probably damaging |
Het |
Camta1 |
T |
C |
4: 151,670,888 (GRCm39) |
T96A |
possibly damaging |
Het |
Ccdc148 |
A |
T |
2: 58,894,084 (GRCm39) |
|
probably null |
Het |
Cep170b |
T |
C |
12: 112,703,240 (GRCm39) |
Y568H |
probably damaging |
Het |
Clca4b |
A |
T |
3: 144,627,741 (GRCm39) |
I410N |
probably damaging |
Het |
Cnot10 |
G |
A |
9: 114,427,838 (GRCm39) |
T592I |
probably benign |
Het |
Col6a3 |
C |
T |
1: 90,755,771 (GRCm39) |
A173T |
probably damaging |
Het |
Ctcf |
T |
A |
8: 106,402,789 (GRCm39) |
C560* |
probably null |
Het |
Daglb |
G |
A |
5: 143,472,951 (GRCm39) |
V369I |
probably benign |
Het |
Defb19 |
G |
A |
2: 152,422,146 (GRCm39) |
L8F |
unknown |
Het |
Emcn |
G |
T |
3: 137,078,608 (GRCm39) |
E65* |
probably null |
Het |
Etl4 |
G |
T |
2: 20,782,940 (GRCm39) |
R753L |
probably damaging |
Het |
Fam151b |
T |
C |
13: 92,586,689 (GRCm39) |
Y248C |
probably benign |
Het |
Fmo1 |
T |
C |
1: 162,663,704 (GRCm39) |
D275G |
probably benign |
Het |
Gjd4 |
A |
G |
18: 9,280,964 (GRCm39) |
V38A |
possibly damaging |
Het |
Hivep1 |
T |
C |
13: 42,311,855 (GRCm39) |
V1365A |
possibly damaging |
Het |
Hivep2 |
T |
C |
10: 14,005,702 (GRCm39) |
S767P |
possibly damaging |
Het |
Hoxa6 |
T |
C |
6: 52,183,548 (GRCm39) |
T166A |
possibly damaging |
Het |
Ift80 |
G |
T |
3: 68,843,232 (GRCm39) |
L367I |
probably benign |
Het |
Igf2bp1 |
T |
C |
11: 95,859,719 (GRCm39) |
N369S |
possibly damaging |
Het |
Igsf11 |
C |
A |
16: 38,829,179 (GRCm39) |
D24E |
probably benign |
Het |
Ints5 |
C |
T |
19: 8,873,114 (GRCm39) |
L358F |
probably damaging |
Het |
Kbtbd3 |
A |
G |
9: 4,330,519 (GRCm39) |
T298A |
possibly damaging |
Het |
Kif28 |
C |
A |
1: 179,558,818 (GRCm39) |
V297F |
probably damaging |
Het |
Krt12 |
T |
C |
11: 99,308,771 (GRCm39) |
Y422C |
probably damaging |
Het |
Lig1 |
T |
A |
7: 13,043,122 (GRCm39) |
W856R |
probably damaging |
Het |
Liph |
C |
T |
16: 21,786,730 (GRCm39) |
|
probably null |
Het |
Lrig3 |
T |
A |
10: 125,849,317 (GRCm39) |
C1012* |
probably null |
Het |
Lrit1 |
A |
G |
14: 36,782,182 (GRCm39) |
E285G |
probably damaging |
Het |
Lrrc31 |
A |
G |
3: 30,743,377 (GRCm39) |
V196A |
probably benign |
Het |
Lrrn4 |
T |
C |
2: 132,712,363 (GRCm39) |
T487A |
probably benign |
Het |
Mllt10 |
T |
C |
2: 18,167,424 (GRCm39) |
Y372H |
probably damaging |
Het |
Mrpl50 |
A |
T |
4: 49,514,515 (GRCm39) |
V52E |
probably damaging |
Het |
Mthfd1l |
T |
C |
10: 4,006,766 (GRCm39) |
V676A |
probably damaging |
Het |
Ncl |
C |
T |
1: 86,284,362 (GRCm39) |
D245N |
possibly damaging |
Het |
Neil1 |
A |
T |
9: 57,054,065 (GRCm39) |
|
probably null |
Het |
Nfatc3 |
A |
G |
8: 106,818,827 (GRCm39) |
E515G |
probably damaging |
Het |
Nlrp4b |
A |
G |
7: 10,449,108 (GRCm39) |
E70G |
possibly damaging |
Het |
Nme3 |
A |
T |
17: 25,115,491 (GRCm39) |
I2F |
possibly damaging |
Het |
Nup210 |
G |
A |
6: 91,051,292 (GRCm39) |
H364Y |
probably benign |
Het |
Nxpe3 |
T |
A |
16: 55,686,898 (GRCm39) |
T37S |
probably benign |
Het |
Olfm1 |
T |
A |
2: 28,102,554 (GRCm39) |
M76K |
probably benign |
Het |
Pgbd5 |
A |
T |
8: 125,160,771 (GRCm39) |
V32E |
probably damaging |
Het |
Plcb4 |
T |
C |
2: 135,810,339 (GRCm39) |
M646T |
probably damaging |
Het |
Plekha7 |
G |
A |
7: 115,757,255 (GRCm39) |
P565L |
probably damaging |
Het |
Poc5 |
A |
G |
13: 96,535,374 (GRCm39) |
D213G |
probably null |
Het |
Poli |
A |
G |
18: 70,656,452 (GRCm39) |
I125T |
probably benign |
Het |
Ppm1f |
T |
C |
16: 16,721,254 (GRCm39) |
M1T |
probably null |
Het |
Psmd7 |
T |
C |
8: 108,307,523 (GRCm39) |
K320R |
unknown |
Het |
Rabggtb |
A |
G |
3: 153,615,954 (GRCm39) |
V128A |
probably damaging |
Het |
Rasa2 |
A |
T |
9: 96,454,012 (GRCm39) |
L308H |
probably damaging |
Het |
Serpina1d |
C |
T |
12: 103,730,034 (GRCm39) |
V383M |
probably benign |
Het |
Sipa1l1 |
T |
C |
12: 82,431,530 (GRCm39) |
|
probably null |
Het |
Sos1 |
T |
C |
17: 80,715,740 (GRCm39) |
T1006A |
probably benign |
Het |
Sugp1 |
T |
A |
8: 70,522,658 (GRCm39) |
Y453N |
probably damaging |
Het |
Taf3 |
A |
T |
2: 10,047,455 (GRCm39) |
D64E |
probably benign |
Het |
Tcf19 |
A |
T |
17: 35,826,801 (GRCm39) |
|
probably null |
Het |
Trim60 |
T |
A |
8: 65,453,868 (GRCm39) |
H127L |
probably damaging |
Het |
Tubb4a |
C |
T |
17: 57,387,770 (GRCm39) |
V419M |
probably damaging |
Het |
Vmn2r22 |
G |
T |
6: 123,614,684 (GRCm39) |
T302K |
probably damaging |
Het |
Vmn2r68 |
T |
G |
7: 84,870,884 (GRCm39) |
T800P |
possibly damaging |
Het |
Zfhx2 |
A |
C |
14: 55,300,965 (GRCm39) |
V2262G |
probably 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 |
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 |
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'- TCCCTTCCTCACATAGGTGGGAAAC -3'
(R):5'- ATTAGCTGGGTAGAGGCCCAACAG -3'
Sequencing Primer
(F):5'- CTCACATAGGTGGGAAACTGATTC -3'
(R):5'- AAAGGTCTGTCATGGAAGTGTG -3'
|
Posted On |
2013-05-09 |