Incidental Mutation 'IGL03048:Adamts13'
ID |
391800 |
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 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.080)
|
Stock # |
IGL03048 (G1)
|
Quality Score |
223 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
26863428-26899640 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 26868711 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 null
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 null
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 |
|
Meta Mutation Damage Score |
0.9495 |
Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
Validation Efficiency |
100% (40/40) |
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Anapc4 |
C |
T |
5: 52,997,075 (GRCm39) |
T116I |
probably benign |
Het |
Arhgap45 |
C |
T |
10: 79,852,851 (GRCm39) |
R14C |
probably damaging |
Het |
Bysl |
T |
C |
17: 47,913,560 (GRCm39) |
|
probably null |
Het |
Ccdc166 |
T |
A |
15: 75,854,050 (GRCm39) |
N10I |
possibly damaging |
Het |
Chd1l |
T |
C |
3: 97,505,079 (GRCm39) |
S163G |
probably benign |
Het |
Col6a3 |
A |
G |
1: 90,737,970 (GRCm39) |
V576A |
possibly damaging |
Het |
Cpped1 |
T |
C |
16: 11,646,339 (GRCm39) |
T162A |
probably benign |
Het |
Dcbld1 |
A |
T |
10: 52,180,722 (GRCm39) |
I200F |
probably damaging |
Het |
Dock6 |
T |
C |
9: 21,720,866 (GRCm39) |
E1713G |
probably damaging |
Het |
Eif4a3l1 |
A |
T |
6: 136,306,198 (GRCm39) |
T220S |
probably damaging |
Het |
Evx1 |
T |
C |
6: 52,292,739 (GRCm39) |
L130P |
probably benign |
Het |
Fam168a |
A |
G |
7: 100,484,545 (GRCm39) |
T228A |
probably damaging |
Het |
Fcna |
G |
C |
2: 25,520,693 (GRCm39) |
|
probably benign |
Het |
Firrm |
G |
A |
1: 163,792,094 (GRCm39) |
A608V |
probably benign |
Het |
Foxp4 |
A |
T |
17: 48,191,765 (GRCm39) |
M124K |
unknown |
Het |
Gabrr3 |
A |
G |
16: 59,250,493 (GRCm39) |
H164R |
probably benign |
Het |
Gapdhrt |
T |
A |
14: 11,281,873 (GRCm38) |
I21F |
probably benign |
Het |
Greb1 |
C |
T |
12: 16,783,332 (GRCm39) |
C134Y |
probably damaging |
Het |
Hddc2 |
G |
A |
10: 31,192,332 (GRCm39) |
V79I |
possibly damaging |
Het |
Lbr |
T |
C |
1: 181,666,109 (GRCm39) |
|
probably benign |
Het |
Mamdc4 |
C |
T |
2: 25,459,084 (GRCm39) |
R229K |
possibly damaging |
Het |
Mtor |
T |
C |
4: 148,630,847 (GRCm39) |
|
probably benign |
Het |
Ncoa1 |
T |
C |
12: 4,317,922 (GRCm39) |
R1137G |
probably damaging |
Het |
Nlrp4d |
T |
C |
7: 10,092,881 (GRCm39) |
|
noncoding transcript |
Het |
Oasl1 |
T |
A |
5: 115,075,400 (GRCm39) |
S487T |
possibly damaging |
Het |
Oprm1 |
T |
C |
10: 6,779,064 (GRCm39) |
I91T |
probably damaging |
Het |
Or11j4 |
G |
T |
14: 50,630,245 (GRCm39) |
V11L |
possibly damaging |
Het |
Or1e26 |
G |
C |
11: 73,479,831 (GRCm39) |
H244Q |
possibly damaging |
Het |
Or8g33 |
A |
G |
9: 39,338,065 (GRCm39) |
F101L |
probably benign |
Het |
Pdzk1ip1 |
T |
A |
4: 114,950,181 (GRCm39) |
D147E |
probably benign |
Het |
Per1 |
A |
G |
11: 68,995,552 (GRCm39) |
K711E |
probably damaging |
Het |
Rab3gap1 |
A |
G |
1: 127,865,214 (GRCm39) |
N734S |
probably damaging |
Het |
Rapgefl1 |
T |
C |
11: 98,727,990 (GRCm39) |
L4P |
possibly damaging |
Het |
Sgk2 |
A |
G |
2: 162,837,680 (GRCm39) |
Y101C |
probably damaging |
Het |
Tmem129 |
A |
G |
5: 33,812,811 (GRCm39) |
V179A |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,719,259 (GRCm39) |
|
probably benign |
Het |
Ttyh2 |
T |
A |
11: 114,587,521 (GRCm39) |
M174K |
probably benign |
Het |
Vmn2r13 |
G |
A |
5: 109,304,151 (GRCm39) |
A760V |
probably damaging |
Het |
Vmn2r82 |
A |
T |
10: 79,232,460 (GRCm39) |
I820F |
probably damaging |
Het |
Zswim4 |
T |
C |
8: 84,938,604 (GRCm39) |
M1093V |
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 |
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 |
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'- ATGAACTTCAGCTTCCCTGC -3'
(R):5'- AGCATCAGATTTCCCCGATC -3'
Sequencing Primer
(F):5'- GCTGGTGCCACTGTCCTTG -3'
(R):5'- GATCTCAGCTTTCCCTACCAAGAC -3'
|
Posted On |
2016-06-07 |