Incidental Mutation 'R5890:Adamts13'
| ID |
457065 |
| 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 |
044091-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.092)
|
| Stock # |
R5890 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
26863428-26899640 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 26876603 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 506
(R506W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000014996
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014996]
[ENSMUST00000102891]
|
| AlphaFold |
Q769J6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000014996
AA Change: R506W
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000014996
Gene: ENSMUSG00000014852
AA Change: R506W
| 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 |
possibly damaging
Transcript: ENSMUST00000102891
AA Change: R506W
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000099955
Gene: ENSMUSG00000014852
AA Change: R506W
| 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: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.9%
|
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
A |
G |
6: 142,550,554 (GRCm39) |
|
probably null |
Het |
| Acsm3 |
C |
A |
7: 119,374,457 (GRCm39) |
T303N |
probably benign |
Het |
| Adck5 |
C |
T |
15: 76,477,785 (GRCm39) |
T166M |
probably damaging |
Het |
| Adcy8 |
T |
A |
15: 64,687,266 (GRCm39) |
I413F |
probably damaging |
Het |
| Adgrl2 |
A |
T |
3: 148,564,811 (GRCm39) |
D252E |
probably damaging |
Het |
| Aldh16a1 |
T |
A |
7: 44,793,969 (GRCm39) |
T636S |
probably benign |
Het |
| Ampd1 |
C |
A |
3: 102,997,391 (GRCm39) |
F264L |
probably damaging |
Het |
| Arhgap17 |
T |
C |
7: 122,885,981 (GRCm39) |
|
probably benign |
Het |
| Babam2 |
A |
G |
5: 32,222,151 (GRCm39) |
|
probably benign |
Het |
| Bltp2 |
C |
T |
11: 78,164,096 (GRCm39) |
Q40* |
probably null |
Het |
| Bod1l |
T |
A |
5: 41,977,921 (GRCm39) |
E1131V |
probably benign |
Het |
| Cbs |
C |
T |
17: 31,832,193 (GRCm39) |
V553M |
probably damaging |
Het |
| Cd72 |
T |
C |
4: 43,454,475 (GRCm39) |
K18R |
probably damaging |
Het |
| Cep89 |
A |
G |
7: 35,128,587 (GRCm39) |
Y580C |
probably damaging |
Het |
| Chrnb1 |
T |
A |
11: 69,683,555 (GRCm39) |
I264F |
possibly damaging |
Het |
| Cntf |
A |
G |
19: 12,741,357 (GRCm39) |
W168R |
probably damaging |
Het |
| Cxxc1 |
T |
A |
18: 74,354,237 (GRCm39) |
D648E |
possibly damaging |
Het |
| Cyp2c68 |
A |
T |
19: 39,700,936 (GRCm39) |
L294Q |
probably damaging |
Het |
| Dab2ip |
T |
C |
2: 35,605,414 (GRCm39) |
S532P |
probably damaging |
Het |
| Defb3 |
G |
A |
8: 19,345,200 (GRCm39) |
C52Y |
probably damaging |
Het |
| Dennd5a |
T |
G |
7: 109,533,428 (GRCm39) |
E114A |
probably benign |
Het |
| Dnah12 |
T |
C |
14: 26,428,039 (GRCm39) |
F222L |
probably benign |
Het |
| Dock9 |
A |
C |
14: 121,905,820 (GRCm39) |
|
probably null |
Het |
| Fras1 |
A |
T |
5: 96,793,807 (GRCm39) |
H1043L |
probably benign |
Het |
| Gamt |
C |
A |
10: 80,095,741 (GRCm39) |
R63L |
possibly damaging |
Het |
| Gm1527 |
A |
G |
3: 28,969,544 (GRCm39) |
H298R |
probably benign |
Het |
| Gphb5 |
C |
T |
12: 75,462,596 (GRCm39) |
|
probably null |
Het |
| Greb1 |
A |
T |
12: 16,783,422 (GRCm39) |
V104D |
possibly damaging |
Het |
| Hck |
A |
G |
2: 152,970,996 (GRCm39) |
D86G |
probably damaging |
Het |
| Jhy |
T |
A |
9: 40,833,958 (GRCm39) |
K321* |
probably null |
Het |
| Kcna5 |
C |
T |
6: 126,511,699 (GRCm39) |
R143H |
probably damaging |
Het |
| Kif19a |
G |
T |
11: 114,680,264 (GRCm39) |
W867L |
possibly damaging |
Het |
| Map3k4 |
G |
A |
17: 12,490,303 (GRCm39) |
A376V |
probably damaging |
Het |
| Mars1 |
A |
T |
10: 127,133,914 (GRCm39) |
M661K |
probably benign |
Het |
| Mecp2 |
C |
T |
X: 73,079,043 (GRCm39) |
V496M |
probably damaging |
Het |
| Mfsd2b |
A |
T |
12: 4,917,651 (GRCm39) |
C132S |
probably damaging |
Het |
| Mfsd4a |
T |
C |
1: 131,966,666 (GRCm39) |
Y356C |
probably damaging |
Het |
| Mif4gd |
G |
T |
11: 115,500,188 (GRCm39) |
A89E |
probably benign |
Het |
| Mkln1 |
A |
T |
6: 31,467,482 (GRCm39) |
E593D |
probably benign |
Het |
| Mlh1 |
G |
T |
9: 111,057,563 (GRCm39) |
N749K |
possibly damaging |
Het |
| Mrgprb2 |
T |
A |
7: 48,201,707 (GRCm39) |
*339C |
probably null |
Het |
| Nphp4 |
T |
C |
4: 152,631,536 (GRCm39) |
V812A |
probably benign |
Het |
| Nrcam |
G |
T |
12: 44,623,554 (GRCm39) |
V1048L |
probably benign |
Het |
| Obsl1 |
G |
A |
1: 75,470,503 (GRCm39) |
A856V |
probably damaging |
Het |
| Osgepl1 |
T |
A |
1: 53,357,326 (GRCm39) |
F163I |
probably damaging |
Het |
| Pcdha6 |
C |
A |
18: 37,102,121 (GRCm39) |
T438K |
possibly damaging |
Het |
| Pcdhb20 |
A |
T |
18: 37,638,286 (GRCm39) |
M271L |
probably benign |
Het |
| Phip |
T |
C |
9: 82,789,005 (GRCm39) |
T770A |
probably benign |
Het |
| Ppm1d |
A |
G |
11: 85,217,734 (GRCm39) |
T166A |
probably damaging |
Het |
| Ptprf |
A |
T |
4: 118,081,932 (GRCm39) |
I1102K |
probably benign |
Het |
| Sbsn |
T |
C |
7: 30,452,692 (GRCm39) |
V569A |
possibly damaging |
Het |
| Skida1 |
T |
A |
2: 18,050,814 (GRCm39) |
|
probably benign |
Het |
| Smg1 |
T |
A |
7: 117,789,809 (GRCm39) |
|
probably benign |
Het |
| Sorcs2 |
A |
G |
5: 36,386,535 (GRCm39) |
Y168H |
probably damaging |
Het |
| Sufu |
A |
T |
19: 46,443,172 (GRCm39) |
|
probably null |
Het |
| Tbc1d24 |
A |
T |
17: 24,404,500 (GRCm39) |
W215R |
probably damaging |
Het |
| Tenm4 |
T |
C |
7: 96,552,067 (GRCm39) |
L2502P |
probably damaging |
Het |
| Tgm4 |
A |
T |
9: 122,890,703 (GRCm39) |
E10V |
probably damaging |
Het |
| Trip11 |
T |
C |
12: 101,852,231 (GRCm39) |
E611G |
probably damaging |
Het |
| Ttn |
C |
A |
2: 76,540,243 (GRCm39) |
A34248S |
possibly damaging |
Het |
| Ube3a |
T |
A |
7: 58,921,776 (GRCm39) |
N49K |
probably damaging |
Het |
| Ube3c |
A |
G |
5: 29,863,290 (GRCm39) |
D855G |
possibly damaging |
Het |
| Ugt8a |
A |
G |
3: 125,669,202 (GRCm39) |
S301P |
probably benign |
Het |
| Wdfy4 |
T |
A |
14: 32,824,534 (GRCm39) |
N1295I |
possibly damaging |
Het |
| Wdr47 |
G |
T |
3: 108,517,328 (GRCm39) |
G43C |
probably damaging |
Het |
| Wdtc1 |
A |
C |
4: 133,021,673 (GRCm39) |
L601W |
unknown |
Het |
| Zfp236 |
A |
G |
18: 82,658,276 (GRCm39) |
F614S |
possibly damaging |
Het |
| Zfp637 |
T |
A |
6: 117,822,047 (GRCm39) |
D58E |
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 |
|
|
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'- CTGGCAGGGTTACTACAACAGG -3'
(R):5'- GACTCCAAGTTTCCGTCCTG -3'
Sequencing Primer
(F):5'- CAGGGTTACTACAACAGGTTCTAAAG -3'
(R):5'- GGGCAACTCCATAGATCATCTCTC -3'
|
| Posted On |
2017-02-15 |
Incidental Mutation