Incidental Mutation 'R0714:Adamts13'
ID |
85889 |
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 |
038897-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.080)
|
Stock # |
R0714 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
26863428-26899640 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 26876997 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099955
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014996]
[ENSMUST00000102891]
|
AlphaFold |
Q769J6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000014996
|
SMART Domains |
Protein: ENSMUSP00000014996 Gene: ENSMUSG00000014852
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
|
SMART Domains |
Protein: ENSMUSP00000099955 Gene: ENSMUSG00000014852
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: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.5%
|
Validation Efficiency |
100% (52/52) |
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd17b |
G |
A |
19: 21,655,973 (GRCm39) |
R85H |
probably damaging |
Het |
Alb |
T |
C |
5: 90,610,665 (GRCm39) |
S82P |
possibly damaging |
Het |
Arhgap10 |
G |
A |
8: 78,078,316 (GRCm39) |
|
probably benign |
Het |
Aspscr1 |
T |
A |
11: 120,594,493 (GRCm39) |
|
probably null |
Het |
Capn3 |
A |
T |
2: 120,322,361 (GRCm39) |
Q359L |
probably benign |
Het |
Ccdc110 |
A |
T |
8: 46,396,047 (GRCm39) |
D646V |
possibly damaging |
Het |
Ccr2 |
G |
A |
9: 123,905,966 (GRCm39) |
G82D |
probably benign |
Het |
Col6a4 |
A |
G |
9: 105,895,102 (GRCm39) |
|
probably benign |
Het |
Dhx29 |
T |
C |
13: 113,064,499 (GRCm39) |
V58A |
possibly damaging |
Het |
Dhx35 |
C |
A |
2: 158,686,103 (GRCm39) |
Q593K |
probably benign |
Het |
Dmd |
T |
C |
X: 83,353,503 (GRCm39) |
L2240P |
probably benign |
Het |
Emc7 |
A |
G |
2: 112,293,277 (GRCm39) |
N162S |
possibly damaging |
Het |
Exoc7 |
A |
T |
11: 116,184,120 (GRCm39) |
N483K |
probably benign |
Het |
Fbxo34 |
T |
C |
14: 47,767,486 (GRCm39) |
V282A |
probably damaging |
Het |
Fndc3c1 |
A |
T |
X: 105,468,972 (GRCm39) |
Y1087* |
probably null |
Het |
Kat2a |
A |
G |
11: 100,602,178 (GRCm39) |
V192A |
probably damaging |
Het |
Larp7 |
T |
C |
3: 127,340,833 (GRCm39) |
D64G |
probably damaging |
Het |
Lnx1 |
A |
G |
5: 74,768,570 (GRCm39) |
|
probably benign |
Het |
Mib2 |
C |
T |
4: 155,743,917 (GRCm39) |
G42S |
probably damaging |
Het |
Nckipsd |
C |
A |
9: 108,691,333 (GRCm39) |
|
probably benign |
Het |
Ndufab1 |
A |
G |
7: 121,695,960 (GRCm39) |
|
probably benign |
Het |
Nedd4 |
G |
A |
9: 72,638,728 (GRCm39) |
|
probably benign |
Het |
Nrsn2 |
G |
A |
2: 152,216,042 (GRCm39) |
R54* |
probably null |
Het |
Nt5dc3 |
T |
A |
10: 86,648,238 (GRCm39) |
V171E |
probably damaging |
Het |
Nudt8 |
A |
G |
19: 4,052,023 (GRCm39) |
*211W |
probably null |
Het |
Nxph4 |
A |
G |
10: 127,362,808 (GRCm39) |
S28P |
probably damaging |
Het |
Or4f14b |
A |
G |
2: 111,774,898 (GRCm39) |
V301A |
probably benign |
Het |
Or8k17 |
A |
C |
2: 86,066,498 (GRCm39) |
L227R |
probably damaging |
Het |
Or9g4b |
A |
G |
2: 85,616,743 (GRCm39) |
D296G |
probably damaging |
Het |
Pcdhb15 |
A |
G |
18: 37,607,674 (GRCm39) |
Y302C |
probably damaging |
Het |
Pkdrej |
A |
G |
15: 85,699,712 (GRCm39) |
S2075P |
possibly damaging |
Het |
Sdhc |
A |
T |
1: 170,957,488 (GRCm39) |
|
probably benign |
Het |
Sidt2 |
A |
G |
9: 45,858,358 (GRCm39) |
|
probably benign |
Het |
Sik2 |
T |
C |
9: 50,818,736 (GRCm39) |
M413V |
probably benign |
Het |
Slc5a4b |
A |
G |
10: 75,917,341 (GRCm39) |
F232L |
probably benign |
Het |
Slx1b |
A |
T |
7: 126,291,620 (GRCm39) |
I148N |
probably damaging |
Het |
Spag17 |
C |
G |
3: 99,987,472 (GRCm39) |
S1587R |
probably damaging |
Het |
St13 |
T |
C |
15: 81,267,228 (GRCm39) |
D74G |
probably benign |
Het |
St7l |
G |
A |
3: 104,782,244 (GRCm39) |
R207H |
probably benign |
Het |
Syne2 |
AGAGTGAG |
AGAGTGAGTGAG |
12: 76,144,734 (GRCm39) |
|
probably null |
Het |
Tacc3 |
T |
C |
5: 33,828,741 (GRCm39) |
|
probably benign |
Het |
Tbx22 |
G |
A |
X: 106,728,731 (GRCm39) |
V421I |
probably benign |
Het |
Tmc3 |
G |
A |
7: 83,265,969 (GRCm39) |
A705T |
possibly damaging |
Het |
Tmem130 |
C |
T |
5: 144,674,619 (GRCm39) |
V369M |
probably damaging |
Het |
Tonsl |
T |
C |
15: 76,517,921 (GRCm39) |
|
probably benign |
Het |
Trpm6 |
T |
A |
19: 18,815,451 (GRCm39) |
I1179N |
possibly damaging |
Het |
Ttc13 |
A |
T |
8: 125,401,105 (GRCm39) |
S624T |
probably damaging |
Het |
Utp23 |
T |
G |
15: 51,745,665 (GRCm39) |
V55G |
possibly damaging |
Het |
Vps11 |
A |
G |
9: 44,270,953 (GRCm39) |
V143A |
possibly damaging |
Het |
Vps50 |
G |
T |
6: 3,571,105 (GRCm39) |
V618F |
probably benign |
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 |
|
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'- GGGACCCTAAGCCTCTGTTTGTTG -3'
(R):5'- GGTGCTACAAGCCTGGTTACAGAAG -3'
Sequencing Primer
(F):5'- TGGATGACCCAAGTGATTCTC -3'
(R):5'- CCTGGTTACAGAAGCAGCG -3'
|
Posted On |
2013-11-18 |