Incidental Mutation 'R1638:Adamts13'
| ID |
173282 |
| 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 |
039674-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
R1638 (G1)
|
| Quality Score |
187 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
26863428-26899640 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 26886595 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 938
(E938G)
|
| 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: E938G
PolyPhen 2
Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000014996
Gene: ENSMUSG00000014852
AA Change: E938G
| 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: E938G
PolyPhen 2
Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000099955
Gene: ENSMUSG00000014852
AA Change: E938G
| 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 |
0.0941 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 97.9%
- 10x: 94.9%
- 20x: 87.8%
|
| Validation Efficiency |
99% (79/80) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
C |
A |
6: 121,631,571 (GRCm39) |
L623M |
probably benign |
Het |
| Agfg1 |
A |
T |
1: 82,871,259 (GRCm39) |
Q497L |
probably damaging |
Het |
| Ahnak |
A |
G |
19: 8,986,813 (GRCm39) |
H2699R |
probably benign |
Het |
| Antxrl |
G |
T |
14: 33,792,453 (GRCm39) |
|
probably null |
Het |
| Apol7c |
A |
T |
15: 77,410,418 (GRCm39) |
V176E |
probably damaging |
Het |
| Arid5b |
T |
C |
10: 68,113,777 (GRCm39) |
N87D |
possibly damaging |
Het |
| Atp2c1 |
A |
T |
9: 105,309,897 (GRCm39) |
I560N |
probably damaging |
Het |
| Atp2c2 |
T |
C |
8: 120,482,742 (GRCm39) |
F868S |
possibly damaging |
Het |
| Blnk |
G |
C |
19: 40,926,122 (GRCm39) |
F326L |
probably benign |
Het |
| Bltp1 |
C |
T |
3: 37,089,961 (GRCm39) |
R4130* |
probably null |
Het |
| Ckap2 |
C |
T |
8: 22,665,812 (GRCm39) |
V412I |
possibly damaging |
Het |
| Clmn |
A |
G |
12: 104,748,281 (GRCm39) |
V422A |
probably benign |
Het |
| Ctnnal1 |
A |
G |
4: 56,813,856 (GRCm39) |
S638P |
probably benign |
Het |
| Cyp2j5 |
T |
C |
4: 96,524,052 (GRCm39) |
S327G |
probably benign |
Het |
| Dhx38 |
G |
A |
8: 110,280,177 (GRCm39) |
T871M |
probably damaging |
Het |
| Dmxl1 |
A |
T |
18: 50,023,834 (GRCm39) |
K1706* |
probably null |
Het |
| Dnah11 |
A |
G |
12: 117,979,154 (GRCm39) |
L2648P |
possibly damaging |
Het |
| Elf2 |
G |
A |
3: 51,215,530 (GRCm39) |
T60I |
probably damaging |
Het |
| Fam120b |
T |
A |
17: 15,622,759 (GRCm39) |
C246S |
possibly damaging |
Het |
| Fcho2 |
G |
T |
13: 98,882,403 (GRCm39) |
T451K |
possibly damaging |
Het |
| Fzd9 |
T |
A |
5: 135,278,602 (GRCm39) |
I428F |
probably damaging |
Het |
| Galnt13 |
T |
A |
2: 54,744,667 (GRCm39) |
V122E |
probably damaging |
Het |
| Gm21738 |
T |
A |
14: 19,418,908 (GRCm38) |
Y8F |
probably benign |
Het |
| Gnptab |
A |
G |
10: 88,272,029 (GRCm39) |
I940V |
possibly damaging |
Het |
| Gp2 |
A |
G |
7: 119,050,721 (GRCm39) |
|
probably null |
Het |
| Gpr6 |
A |
G |
10: 40,946,530 (GRCm39) |
S351P |
probably benign |
Het |
| Gprin1 |
T |
C |
13: 54,887,689 (GRCm39) |
E195G |
possibly damaging |
Het |
| Grm8 |
A |
T |
6: 28,125,882 (GRCm39) |
Y81* |
probably null |
Het |
| Gtf3c3 |
A |
T |
1: 54,444,278 (GRCm39) |
N703K |
probably damaging |
Het |
| Hhipl2 |
G |
A |
1: 183,208,921 (GRCm39) |
V495I |
probably benign |
Het |
| Islr |
G |
A |
9: 58,065,502 (GRCm39) |
|
probably benign |
Het |
| Lrrc36 |
T |
C |
8: 106,176,273 (GRCm39) |
Y216H |
possibly damaging |
Het |
| Macroh2a1 |
T |
A |
13: 56,252,722 (GRCm39) |
N87Y |
probably damaging |
Het |
| Me2 |
A |
G |
18: 73,906,205 (GRCm39) |
I528T |
probably benign |
Het |
| Mecr |
A |
T |
4: 131,585,127 (GRCm39) |
I156F |
possibly damaging |
Het |
| Megf6 |
A |
G |
4: 154,346,967 (GRCm39) |
|
probably benign |
Het |
| Mn1 |
T |
A |
5: 111,569,435 (GRCm39) |
L1135H |
probably damaging |
Het |
| Naip5 |
A |
G |
13: 100,349,177 (GRCm39) |
S1384P |
probably damaging |
Het |
| Nav2 |
A |
G |
7: 49,102,213 (GRCm39) |
N337S |
probably benign |
Het |
| Ndn |
C |
T |
7: 61,998,256 (GRCm39) |
P34L |
probably benign |
Het |
| Neb |
A |
T |
2: 52,139,293 (GRCm39) |
H3107Q |
probably benign |
Het |
| Nebl |
A |
G |
2: 17,381,462 (GRCm39) |
V738A |
possibly damaging |
Het |
| Nsd2 |
G |
A |
5: 34,039,464 (GRCm39) |
R825Q |
possibly damaging |
Het |
| Nsun2 |
A |
G |
13: 69,775,705 (GRCm39) |
N383S |
probably damaging |
Het |
| Ntrk3 |
A |
T |
7: 77,897,036 (GRCm39) |
M667K |
probably damaging |
Het |
| Or10a48 |
A |
C |
7: 108,424,442 (GRCm39) |
C255G |
probably benign |
Het |
| Or11h6 |
G |
A |
14: 50,880,565 (GRCm39) |
V276M |
possibly damaging |
Het |
| Or1e29 |
A |
G |
11: 73,667,974 (GRCm39) |
Y60H |
possibly damaging |
Het |
| Or6c2 |
A |
T |
10: 129,362,488 (GRCm39) |
M131L |
probably benign |
Het |
| Pex6 |
T |
C |
17: 47,033,558 (GRCm39) |
V633A |
probably benign |
Het |
| Phactr1 |
C |
T |
13: 43,110,147 (GRCm39) |
T95M |
probably damaging |
Het |
| Pik3r4 |
A |
G |
9: 105,564,408 (GRCm39) |
D1334G |
probably damaging |
Het |
| Pkhd1l1 |
A |
C |
15: 44,460,513 (GRCm39) |
I4241L |
probably benign |
Het |
| Ppwd1 |
T |
C |
13: 104,356,771 (GRCm39) |
E248G |
probably damaging |
Het |
| Prepl |
A |
C |
17: 85,379,509 (GRCm39) |
M393R |
probably benign |
Het |
| Ptpn6 |
T |
C |
6: 124,698,148 (GRCm39) |
S532G |
probably benign |
Het |
| Rnase11 |
G |
T |
14: 51,287,058 (GRCm39) |
H165Q |
possibly damaging |
Het |
| Sf1 |
A |
G |
19: 6,422,090 (GRCm39) |
N172S |
possibly damaging |
Het |
| Shprh |
T |
A |
10: 11,032,822 (GRCm39) |
D269E |
probably benign |
Het |
| Slc16a1 |
T |
C |
3: 104,556,798 (GRCm39) |
I61T |
possibly damaging |
Het |
| Slc38a2 |
A |
C |
15: 96,590,417 (GRCm39) |
I309S |
probably damaging |
Het |
| Sry |
C |
G |
Y: 2,663,149 (GRCm39) |
Q170H |
unknown |
Het |
| Stk3 |
A |
C |
15: 35,008,454 (GRCm39) |
|
probably null |
Het |
| Tg |
C |
A |
15: 66,568,015 (GRCm39) |
C1306* |
probably null |
Het |
| Tnik |
A |
G |
3: 28,719,889 (GRCm39) |
M1254V |
probably damaging |
Het |
| U2surp |
T |
C |
9: 95,366,280 (GRCm39) |
E474G |
possibly damaging |
Het |
| Vmn1r224 |
T |
A |
17: 20,639,587 (GRCm39) |
F55I |
probably benign |
Het |
| Vmn1r32 |
A |
G |
6: 66,529,939 (GRCm39) |
I279T |
possibly damaging |
Het |
| Zc2hc1a |
A |
G |
3: 7,581,543 (GRCm39) |
D15G |
probably benign |
Het |
| Zfp827 |
C |
A |
8: 79,802,975 (GRCm39) |
P516T |
possibly damaging |
Het |
| Zfyve9 |
A |
T |
4: 108,542,104 (GRCm39) |
|
probably null |
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 |
|
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'- AGCTCGTGTAGAGGTCAAGAGATACTG -3'
(R):5'- TGAGTCTCCCACCTGAAGGAAGAAG -3'
Sequencing Primer
(F):5'- tggaaaccaggggatcagag -3'
(R):5'- GGCCAAGGCATCATAGGAG -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation