Incidental Mutation 'R2072:Adamts13'
ID |
227194 |
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 |
040077-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.092)
|
Stock # |
R2072 (G1)
|
Quality Score |
164 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
26863428-26899640 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 26895437 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Asparagine
at position 1176
(T1176N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099955
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102891]
[ENSMUST00000114004]
[ENSMUST00000114005]
[ENSMUST00000114006]
[ENSMUST00000114007]
|
AlphaFold |
Q769J6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000102891
AA Change: T1176N
PolyPhen 2
Score 0.096 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000099955 Gene: ENSMUSG00000014852 AA Change: T1176N
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: 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 |
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147216
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
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: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
0610040J01Rik |
G |
C |
5: 64,056,080 (GRCm39) |
R272P |
possibly damaging |
Het |
Ablim3 |
A |
T |
18: 61,990,159 (GRCm39) |
D83E |
possibly damaging |
Het |
Aco1 |
G |
A |
4: 40,183,605 (GRCm39) |
G508S |
probably damaging |
Het |
Adgre5 |
T |
C |
8: 84,454,433 (GRCm39) |
T357A |
probably benign |
Het |
Akap8l |
C |
T |
17: 32,551,457 (GRCm39) |
R511H |
probably damaging |
Het |
Ankrd33 |
T |
C |
15: 101,017,517 (GRCm39) |
V310A |
probably benign |
Het |
Armh3 |
A |
T |
19: 45,953,820 (GRCm39) |
I188K |
probably damaging |
Het |
Bnipl |
C |
T |
3: 95,151,522 (GRCm39) |
G232E |
probably damaging |
Het |
Btbd17 |
A |
T |
11: 114,682,778 (GRCm39) |
|
probably null |
Het |
Cacna1s |
G |
A |
1: 136,007,242 (GRCm39) |
V173I |
probably benign |
Het |
Ccdc122 |
T |
C |
14: 77,306,391 (GRCm39) |
|
probably null |
Het |
Ces1a |
T |
A |
8: 93,774,703 (GRCm39) |
N12Y |
probably benign |
Het |
Chrdl1 |
T |
C |
X: 142,086,414 (GRCm39) |
I231V |
probably benign |
Het |
Ciita |
C |
T |
16: 10,336,217 (GRCm39) |
T958I |
probably benign |
Het |
Cnot1 |
G |
T |
8: 96,466,461 (GRCm39) |
T1592K |
possibly damaging |
Het |
Dcaf15 |
T |
C |
8: 84,828,370 (GRCm39) |
D240G |
probably damaging |
Het |
Dlgap1 |
C |
T |
17: 70,969,765 (GRCm39) |
R524C |
probably damaging |
Het |
Dmd |
G |
C |
X: 83,356,089 (GRCm39) |
A2257P |
probably benign |
Het |
Dsg1c |
A |
G |
18: 20,408,309 (GRCm39) |
M453V |
probably benign |
Het |
Ednrb |
G |
T |
14: 104,054,535 (GRCm39) |
N432K |
probably benign |
Het |
Fcgbp |
G |
A |
7: 27,819,814 (GRCm39) |
G2514S |
probably damaging |
Het |
Fez1 |
A |
G |
9: 36,779,241 (GRCm39) |
K306R |
probably benign |
Het |
Fmo4 |
A |
G |
1: 162,637,456 (GRCm39) |
V12A |
probably benign |
Het |
Fpgt |
T |
C |
3: 154,793,511 (GRCm39) |
Y172C |
probably damaging |
Het |
Fsip2 |
T |
A |
2: 82,839,159 (GRCm39) |
F6976I |
possibly damaging |
Het |
Galnt12 |
C |
T |
4: 47,108,477 (GRCm39) |
R205* |
probably null |
Het |
Grik5 |
A |
T |
7: 24,714,738 (GRCm39) |
M752K |
possibly damaging |
Het |
Herc2 |
A |
G |
7: 55,876,712 (GRCm39) |
N4516S |
probably damaging |
Het |
Ifrd2 |
A |
T |
9: 107,469,744 (GRCm39) |
D439V |
probably damaging |
Het |
Igsf3 |
A |
G |
3: 101,346,831 (GRCm39) |
T609A |
probably benign |
Het |
Kif5a |
T |
C |
10: 127,081,238 (GRCm39) |
D232G |
probably damaging |
Het |
Lgi2 |
A |
G |
5: 52,695,847 (GRCm39) |
S371P |
probably damaging |
Het |
Marchf3 |
A |
T |
18: 56,944,925 (GRCm39) |
V56E |
possibly damaging |
Het |
Mib2 |
T |
C |
4: 155,744,158 (GRCm39) |
D168G |
probably damaging |
Het |
Nhs |
T |
A |
X: 160,625,717 (GRCm39) |
H544L |
probably damaging |
Het |
Nlrp2 |
A |
G |
7: 5,328,005 (GRCm39) |
S683P |
probably damaging |
Het |
Onecut3 |
T |
G |
10: 80,330,848 (GRCm39) |
L3V |
unknown |
Het |
Or12j2 |
T |
C |
7: 139,916,566 (GRCm39) |
S264P |
possibly damaging |
Het |
Or4c35 |
C |
A |
2: 89,808,557 (GRCm39) |
T145K |
probably benign |
Het |
Or5b102 |
A |
T |
19: 13,041,044 (GRCm39) |
M90L |
probably benign |
Het |
Otogl |
C |
T |
10: 107,616,904 (GRCm39) |
C1791Y |
probably damaging |
Het |
Paip1 |
T |
C |
13: 119,566,798 (GRCm39) |
V128A |
possibly damaging |
Het |
Pcnx2 |
A |
T |
8: 126,488,481 (GRCm39) |
C1688S |
possibly damaging |
Het |
Pdzd2 |
A |
G |
15: 12,385,905 (GRCm39) |
L955P |
probably damaging |
Het |
Phlpp2 |
T |
C |
8: 110,655,124 (GRCm39) |
S605P |
possibly damaging |
Het |
Pkhd1l1 |
G |
T |
15: 44,422,035 (GRCm39) |
A3102S |
probably damaging |
Het |
Plxnb2 |
G |
T |
15: 89,042,654 (GRCm39) |
R1545S |
probably damaging |
Het |
Ppp4c |
T |
C |
7: 126,386,520 (GRCm39) |
|
probably null |
Het |
Prune1 |
C |
T |
3: 95,162,719 (GRCm39) |
R318Q |
probably benign |
Het |
Psg27 |
T |
C |
7: 18,294,342 (GRCm39) |
D355G |
probably damaging |
Het |
Psg27 |
A |
G |
7: 18,298,934 (GRCm39) |
L129P |
probably benign |
Het |
Psmc6 |
A |
G |
14: 45,567,323 (GRCm39) |
K7E |
possibly damaging |
Het |
Reln |
A |
T |
5: 22,124,175 (GRCm39) |
V2777E |
probably damaging |
Het |
Rigi |
A |
T |
4: 40,224,069 (GRCm39) |
|
probably null |
Het |
Scn11a |
G |
T |
9: 119,640,274 (GRCm39) |
A207E |
possibly damaging |
Het |
Slc5a5 |
C |
T |
8: 71,345,083 (GRCm39) |
G75R |
possibly damaging |
Het |
Smarcd2 |
A |
T |
11: 106,156,133 (GRCm39) |
L42* |
probably null |
Het |
Smg1 |
T |
C |
7: 117,762,389 (GRCm39) |
|
probably benign |
Het |
Smurf2 |
T |
A |
11: 106,732,595 (GRCm39) |
Q335L |
probably benign |
Het |
Sspo |
A |
T |
6: 48,450,451 (GRCm39) |
H2580L |
probably benign |
Het |
Stk3 |
T |
C |
15: 34,959,195 (GRCm39) |
M256V |
possibly damaging |
Het |
Syt1 |
A |
G |
10: 108,419,833 (GRCm39) |
I276T |
probably damaging |
Het |
Syt10 |
C |
T |
15: 89,674,979 (GRCm39) |
D456N |
probably damaging |
Het |
Taar9 |
A |
T |
10: 23,984,877 (GRCm39) |
C186S |
probably damaging |
Het |
Tnrc6b |
C |
T |
15: 80,767,166 (GRCm39) |
P977L |
possibly damaging |
Het |
Trp53bp2 |
A |
G |
1: 182,286,432 (GRCm39) |
T1091A |
probably benign |
Het |
Ttn |
G |
T |
2: 76,768,120 (GRCm39) |
T2947N |
probably damaging |
Het |
Ube2q1 |
T |
C |
3: 89,686,878 (GRCm39) |
|
probably null |
Het |
Ube3c |
A |
G |
5: 29,840,638 (GRCm39) |
E671G |
probably benign |
Het |
Upf3a |
A |
G |
8: 13,835,850 (GRCm39) |
K56R |
possibly damaging |
Het |
Vmn2r15 |
A |
T |
5: 109,434,619 (GRCm39) |
M695K |
possibly damaging |
Het |
Vmn2r3 |
A |
T |
3: 64,182,493 (GRCm39) |
M402K |
possibly damaging |
Het |
Zfp354b |
T |
A |
11: 50,813,279 (GRCm39) |
R549* |
probably null |
Het |
Zfp37 |
A |
T |
4: 62,109,945 (GRCm39) |
M411K |
probably damaging |
Het |
Zfp747 |
T |
A |
7: 126,973,142 (GRCm39) |
T343S |
possibly damaging |
Het |
Zfp853 |
T |
A |
5: 143,275,137 (GRCm39) |
Q161L |
unknown |
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 |
|
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'- TGATAAACTCGTGGTGATCTTCC -3'
(R):5'- AAGTGTGGCTTCCCTTTGC -3'
Sequencing Primer
(F):5'- GTGCCAGCCAATTTCTGCCAG -3'
(R):5'- TCCCTTTGCCAGGTGGGAAG -3'
|
Posted On |
2014-09-17 |