Incidental Mutation 'R7212:Adamts13'
ID |
561118 |
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 |
045340-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.080)
|
Stock # |
R7212 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
26863428-26899640 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 26896326 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 1240
(C1240S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099955
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102891]
[ENSMUST00000114003]
[ENSMUST00000114004]
[ENSMUST00000114005]
[ENSMUST00000114006]
[ENSMUST00000114007]
|
AlphaFold |
Q769J6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000102891
AA Change: C1240S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000099955 Gene: ENSMUSG00000014852 AA Change: C1240S
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000114003
|
SMART Domains |
Protein: ENSMUSP00000109636 Gene: ENSMUSG00000015488
Domain | Start | End | E-Value | Type |
Cg6151-P
|
1 |
80 |
6.19e-34 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000114004
|
SMART Domains |
Protein: ENSMUSP00000109637 Gene: ENSMUSG00000015488
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
17 |
N/A |
INTRINSIC |
Cg6151-P
|
33 |
106 |
7.88e-18 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000114005
|
SMART Domains |
Protein: ENSMUSP00000109638 Gene: ENSMUSG00000015488
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
17 |
N/A |
INTRINSIC |
Cg6151-P
|
33 |
114 |
5.53e-22 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000114006
|
SMART Domains |
Protein: ENSMUSP00000109639 Gene: ENSMUSG00000015488
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
17 |
N/A |
INTRINSIC |
Cg6151-P
|
33 |
142 |
2.87e-61 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000114007
|
SMART Domains |
Protein: ENSMUSP00000109640 Gene: ENSMUSG00000015488
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
17 |
N/A |
INTRINSIC |
Cg6151-P
|
33 |
142 |
2.87e-61 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133126
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147216
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000133807
|
SMART Domains |
Protein: ENSMUSP00000122562 Gene: ENSMUSG00000015488
Domain | Start | End | E-Value | Type |
low complexity region
|
29 |
42 |
N/A |
INTRINSIC |
Cg6151-P
|
53 |
118 |
8.02e-10 |
SMART |
|
Meta Mutation Damage Score |
0.8718 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (70/70) |
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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700003E16Rik |
C |
T |
6: 83,138,654 (GRCm39) |
A193V |
probably benign |
Het |
Aatf |
C |
T |
11: 84,340,006 (GRCm39) |
R435Q |
probably damaging |
Het |
Abca13 |
A |
G |
11: 9,248,854 (GRCm39) |
H2867R |
probably benign |
Het |
Abcd2 |
C |
T |
15: 91,043,326 (GRCm39) |
A621T |
possibly damaging |
Het |
Actl11 |
T |
A |
9: 107,805,856 (GRCm39) |
S60T |
probably damaging |
Het |
Adam28 |
T |
A |
14: 68,874,846 (GRCm39) |
N277I |
probably damaging |
Het |
Arhgap27 |
C |
T |
11: 103,251,581 (GRCm39) |
R49Q |
probably damaging |
Het |
Armc10 |
T |
C |
5: 21,865,581 (GRCm39) |
S209P |
probably damaging |
Het |
Atp6v0a1 |
T |
C |
11: 100,934,783 (GRCm39) |
F617L |
probably benign |
Het |
Bap1 |
T |
A |
14: 30,973,580 (GRCm39) |
N2K |
probably damaging |
Het |
Bltp1 |
C |
A |
3: 37,102,158 (GRCm39) |
N1363K |
|
Het |
Cass4 |
T |
A |
2: 172,269,106 (GRCm39) |
L396* |
probably null |
Het |
Ccdc40 |
A |
G |
11: 119,155,270 (GRCm39) |
Q1170R |
probably damaging |
Het |
Cdhr5 |
C |
T |
7: 140,852,572 (GRCm39) |
R348H |
probably damaging |
Het |
Cenpj |
A |
G |
14: 56,790,109 (GRCm39) |
S647P |
probably benign |
Het |
Chordc1 |
T |
A |
9: 18,206,647 (GRCm39) |
|
probably null |
Het |
Chordc1 |
T |
C |
9: 18,212,308 (GRCm39) |
S41P |
probably damaging |
Het |
Ckm |
T |
C |
7: 19,148,978 (GRCm39) |
|
probably null |
Het |
Clca3a1 |
A |
C |
3: 144,711,727 (GRCm39) |
I756S |
probably damaging |
Het |
Clcn1 |
T |
C |
6: 42,268,323 (GRCm39) |
V165A |
possibly damaging |
Het |
Clec4a4 |
T |
A |
6: 122,968,704 (GRCm39) |
|
probably null |
Het |
Cog7 |
T |
C |
7: 121,576,537 (GRCm39) |
K130E |
probably damaging |
Het |
Coq7 |
A |
G |
7: 118,109,271 (GRCm39) |
I259T |
unknown |
Het |
Cp |
T |
C |
3: 20,029,130 (GRCm39) |
S536P |
probably damaging |
Het |
Cyp2d10 |
T |
A |
15: 82,288,447 (GRCm39) |
|
probably null |
Het |
Dcst2 |
A |
G |
3: 89,273,607 (GRCm39) |
I162V |
probably benign |
Het |
Dennd4c |
A |
G |
4: 86,721,228 (GRCm39) |
E630G |
probably damaging |
Het |
Dpt |
A |
T |
1: 164,624,484 (GRCm39) |
I62F |
probably benign |
Het |
Ednrb |
T |
A |
14: 104,080,444 (GRCm39) |
I157F |
probably damaging |
Het |
Ext1 |
A |
T |
15: 53,208,558 (GRCm39) |
W68R |
probably benign |
Het |
Fgf4 |
A |
G |
7: 144,416,523 (GRCm39) |
K152E |
probably benign |
Het |
G530012D18Rik |
A |
T |
1: 85,504,864 (GRCm39) |
T90S |
unknown |
Het |
Galnt17 |
T |
C |
5: 130,992,949 (GRCm39) |
T322A |
possibly damaging |
Het |
Gcm1 |
A |
T |
9: 77,966,925 (GRCm39) |
D48V |
possibly damaging |
Het |
Gdi1 |
G |
A |
X: 73,350,461 (GRCm39) |
R55H |
probably benign |
Het |
Gm49358 |
G |
T |
10: 86,661,071 (GRCm39) |
R353L |
probably damaging |
Het |
Golga4 |
A |
G |
9: 118,365,908 (GRCm39) |
E320G |
possibly damaging |
Het |
Herc3 |
T |
C |
6: 58,895,758 (GRCm39) |
I1002T |
probably damaging |
Het |
Hip1r |
T |
A |
5: 124,111,845 (GRCm39) |
V7E |
possibly damaging |
Het |
Hipk1 |
G |
A |
3: 103,684,926 (GRCm39) |
Q230* |
probably null |
Het |
Igsf9b |
C |
T |
9: 27,242,992 (GRCm39) |
P726L |
probably damaging |
Het |
Itgb6 |
T |
C |
2: 60,464,998 (GRCm39) |
I345V |
probably damaging |
Het |
Lhx4 |
G |
T |
1: 155,600,699 (GRCm39) |
Q29K |
probably benign |
Het |
Manba |
A |
G |
3: 135,273,396 (GRCm39) |
T777A |
probably benign |
Het |
Mcm3ap |
A |
G |
10: 76,337,145 (GRCm39) |
D1360G |
probably benign |
Het |
Meltf |
T |
A |
16: 31,709,632 (GRCm39) |
|
probably null |
Het |
Mmp14 |
T |
G |
14: 54,673,336 (GRCm39) |
D81E |
probably damaging |
Het |
Naalad2 |
T |
C |
9: 18,275,337 (GRCm39) |
|
probably null |
Het |
Nbeal1 |
G |
C |
1: 60,276,310 (GRCm39) |
V684L |
probably benign |
Het |
Or7a38 |
A |
T |
10: 78,753,339 (GRCm39) |
I222L |
possibly damaging |
Het |
Or8b35 |
T |
A |
9: 37,904,253 (GRCm39) |
M150K |
possibly damaging |
Het |
Pacs2 |
A |
G |
12: 113,025,312 (GRCm39) |
D488G |
possibly damaging |
Het |
Prr5 |
T |
G |
15: 84,629,993 (GRCm39) |
L108R |
probably null |
Het |
Psg23 |
A |
G |
7: 18,341,064 (GRCm39) |
S397P |
probably benign |
Het |
Rfpl4 |
C |
A |
7: 5,113,659 (GRCm39) |
R174L |
probably damaging |
Het |
Runx3 |
T |
A |
4: 134,880,090 (GRCm39) |
I3N |
probably damaging |
Het |
Scn5a |
A |
T |
9: 119,372,451 (GRCm39) |
N214K |
possibly damaging |
Het |
Slc27a1 |
T |
C |
8: 72,037,092 (GRCm39) |
I412T |
probably damaging |
Het |
Sptbn4 |
T |
G |
7: 27,116,210 (GRCm39) |
T530P |
probably benign |
Het |
Tex15 |
A |
T |
8: 34,060,854 (GRCm39) |
R95* |
probably null |
Het |
Tex15 |
T |
C |
8: 34,063,023 (GRCm39) |
S818P |
probably damaging |
Het |
Tmod1 |
A |
T |
4: 46,093,951 (GRCm39) |
K221* |
probably null |
Het |
Tpm3 |
G |
A |
3: 89,998,361 (GRCm39) |
D272N |
probably benign |
Het |
Trpm6 |
T |
C |
19: 18,831,155 (GRCm39) |
V1340A |
probably benign |
Het |
Ugt2b5 |
A |
T |
5: 87,273,131 (GRCm39) |
C512S |
probably benign |
Het |
Vmn2r82 |
A |
T |
10: 79,215,268 (GRCm39) |
E417V |
probably benign |
Het |
Wfdc11 |
T |
C |
2: 164,506,366 (GRCm39) |
N60S |
probably benign |
Het |
Zfp217 |
A |
T |
2: 169,956,072 (GRCm39) |
S975R |
probably benign |
Het |
Zfr |
C |
T |
15: 12,146,309 (GRCm39) |
Q287* |
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 |
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 |
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'- AGGCCTACTTACTCTGTTCTGG -3'
(R):5'- GGGCTGAGTTCCAATTACCAC -3'
Sequencing Primer
(F):5'- GTTCTGGCCACCTCACC -3'
(R):5'- CCCTCTTACTGGCTAATGTGACAAAG -3'
|
Posted On |
2019-06-26 |