Incidental Mutation 'R7392:Adamts13'
ID |
573483 |
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 |
045474-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.092)
|
Stock # |
R7392 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
26863428-26899640 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 26879336 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Cysteine
at position 630
(R630C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099955
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014996]
[ENSMUST00000102891]
|
AlphaFold |
Q769J6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000014996
AA Change: R630C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000014996 Gene: ENSMUSG00000014852 AA Change: R630C
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 damaging
Transcript: ENSMUST00000102891
AA Change: R630C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000099955 Gene: ENSMUSG00000014852 AA Change: R630C
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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
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: 83 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610021A01Rik |
T |
A |
7: 41,275,990 (GRCm39) |
F564L |
probably damaging |
Het |
Abcc2 |
T |
C |
19: 43,797,126 (GRCm39) |
I499T |
probably damaging |
Het |
Adgrv1 |
A |
T |
13: 81,708,808 (GRCm39) |
F1199I |
probably damaging |
Het |
Agbl5 |
G |
A |
5: 31,048,115 (GRCm39) |
|
probably null |
Het |
Anks1b |
A |
G |
10: 90,516,648 (GRCm39) |
D881G |
possibly damaging |
Het |
Arap2 |
A |
T |
5: 62,855,728 (GRCm39) |
S569R |
possibly damaging |
Het |
Arhgap15 |
T |
C |
2: 43,953,786 (GRCm39) |
S171P |
possibly damaging |
Het |
Arhgef11 |
G |
A |
3: 87,624,482 (GRCm39) |
|
probably null |
Het |
Baz1a |
C |
A |
12: 54,945,550 (GRCm39) |
L1271F |
probably damaging |
Het |
Bdnf |
A |
C |
2: 109,554,275 (GRCm39) |
K216N |
probably benign |
Het |
Bmp7 |
C |
T |
2: 172,711,998 (GRCm39) |
D409N |
probably damaging |
Het |
Bnip5 |
A |
T |
17: 29,127,351 (GRCm39) |
D219E |
probably benign |
Het |
Cacna1c |
T |
A |
6: 118,718,881 (GRCm39) |
I390F |
|
Het |
Chd8 |
A |
G |
14: 52,470,312 (GRCm39) |
S433P |
probably benign |
Het |
Clrn2 |
A |
G |
5: 45,621,251 (GRCm39) |
E215G |
possibly damaging |
Het |
Col19a1 |
T |
G |
1: 24,573,115 (GRCm39) |
D219A |
unknown |
Het |
Col2a1 |
G |
A |
15: 97,878,032 (GRCm39) |
R1036* |
probably null |
Het |
Copg1 |
T |
A |
6: 87,867,257 (GRCm39) |
V110D |
probably benign |
Het |
Cpd |
C |
T |
11: 76,692,605 (GRCm39) |
G744D |
probably damaging |
Het |
Crygs |
G |
A |
16: 22,625,252 (GRCm39) |
P63L |
probably benign |
Het |
Dcn |
A |
G |
10: 97,345,860 (GRCm39) |
D224G |
probably damaging |
Het |
Dnah7a |
T |
C |
1: 53,540,820 (GRCm39) |
E2518G |
probably benign |
Het |
Efcab6 |
C |
A |
15: 83,873,152 (GRCm39) |
R197L |
probably benign |
Het |
Efr3b |
T |
A |
12: 4,019,588 (GRCm39) |
Y723F |
probably benign |
Het |
Enam |
A |
G |
5: 88,649,523 (GRCm39) |
N344S |
probably damaging |
Het |
Erich4 |
A |
G |
7: 25,315,101 (GRCm39) |
I58T |
possibly damaging |
Het |
Esrp1 |
A |
G |
4: 11,338,809 (GRCm39) |
V665A |
probably benign |
Het |
Etf1 |
G |
A |
18: 35,039,103 (GRCm39) |
T388I |
probably benign |
Het |
Faf1 |
A |
G |
4: 109,652,040 (GRCm39) |
T244A |
probably benign |
Het |
Fbn1 |
T |
C |
2: 125,185,844 (GRCm39) |
D1610G |
probably damaging |
Het |
Fcgbpl1 |
C |
T |
7: 27,863,797 (GRCm39) |
T2523M |
possibly damaging |
Het |
Frem1 |
G |
T |
4: 82,932,064 (GRCm39) |
F212L |
probably benign |
Het |
Fuom |
T |
A |
7: 139,681,073 (GRCm39) |
D85V |
probably damaging |
Het |
Gcfc2 |
T |
C |
6: 81,919,993 (GRCm39) |
|
probably null |
Het |
Gpr37 |
C |
T |
6: 25,688,786 (GRCm39) |
A104T |
probably benign |
Het |
Hsp90ab1 |
G |
C |
17: 45,879,974 (GRCm39) |
T514S |
probably benign |
Het |
Ifnl2 |
A |
G |
7: 28,209,094 (GRCm39) |
F74L |
probably benign |
Het |
Ipo11 |
G |
A |
13: 107,028,199 (GRCm39) |
R367* |
probably null |
Het |
Itpr2 |
T |
C |
6: 146,260,838 (GRCm39) |
D963G |
possibly damaging |
Het |
Krt15 |
A |
T |
11: 100,026,386 (GRCm39) |
V100E |
possibly damaging |
Het |
Lrch3 |
T |
A |
16: 32,807,125 (GRCm39) |
L466* |
probably null |
Het |
Lrfn5 |
A |
T |
12: 61,887,090 (GRCm39) |
T293S |
probably benign |
Het |
Lrp5 |
A |
G |
19: 3,660,199 (GRCm39) |
I955T |
probably damaging |
Het |
Lrrc4b |
C |
T |
7: 44,111,439 (GRCm39) |
T437M |
probably damaging |
Het |
Man1a |
A |
G |
10: 53,795,283 (GRCm39) |
Y657H |
probably damaging |
Het |
Mapkap1 |
G |
T |
2: 34,325,166 (GRCm39) |
R94L |
probably damaging |
Het |
Mtmr4 |
T |
A |
11: 87,495,383 (GRCm39) |
L480Q |
probably damaging |
Het |
Mycbp2 |
T |
C |
14: 103,389,627 (GRCm39) |
I3504M |
probably damaging |
Het |
Mycbp2 |
A |
T |
14: 103,480,564 (GRCm39) |
C1169S |
probably damaging |
Het |
Myo15a |
T |
C |
11: 60,396,802 (GRCm39) |
S1455P |
|
Het |
Niban1 |
A |
G |
1: 151,571,975 (GRCm39) |
T307A |
probably damaging |
Het |
Nid2 |
A |
G |
14: 19,818,724 (GRCm39) |
D406G |
probably benign |
Het |
Nrip2 |
A |
G |
6: 128,381,913 (GRCm39) |
I69V |
probably benign |
Het |
Nthl1 |
G |
A |
17: 24,857,598 (GRCm39) |
V266I |
probably benign |
Het |
Or2ag16 |
T |
C |
7: 106,352,589 (GRCm39) |
E2G |
possibly damaging |
Het |
Or5an6 |
G |
T |
19: 12,371,829 (GRCm39) |
L67F |
probably damaging |
Het |
Or5b21 |
A |
G |
19: 12,839,951 (GRCm39) |
T271A |
probably benign |
Het |
Or5g23 |
A |
C |
2: 85,438,832 (GRCm39) |
C141G |
possibly damaging |
Het |
Or5p75-ps1 |
C |
A |
7: 108,107,291 (GRCm39) |
H9Q |
possibly damaging |
Het |
Or8k25 |
A |
G |
2: 86,243,496 (GRCm39) |
V300A |
probably benign |
Het |
Or8s5 |
A |
G |
15: 98,238,192 (GRCm39) |
V226A |
probably benign |
Het |
Pcdhb1 |
A |
C |
18: 37,398,171 (GRCm39) |
S41R |
possibly damaging |
Het |
Pdcd11 |
T |
A |
19: 47,116,436 (GRCm39) |
F1529I |
probably damaging |
Het |
Plcd3 |
C |
A |
11: 102,992,383 (GRCm39) |
|
probably benign |
Het |
Qdpr |
T |
C |
5: 45,596,718 (GRCm39) |
M149V |
probably benign |
Het |
R3hcc1 |
T |
A |
14: 69,943,329 (GRCm39) |
|
probably null |
Het |
Rasgrf2 |
T |
C |
13: 92,041,856 (GRCm39) |
Y392C |
|
Het |
Slc8a3 |
A |
C |
12: 81,361,577 (GRCm39) |
V414G |
probably damaging |
Het |
Slco1a6 |
A |
G |
6: 142,103,003 (GRCm39) |
S54P |
probably benign |
Het |
Sos1 |
C |
A |
17: 80,731,629 (GRCm39) |
V624F |
probably damaging |
Het |
Spdef |
T |
C |
17: 27,936,262 (GRCm39) |
D227G |
probably benign |
Het |
Sptb |
G |
T |
12: 76,671,003 (GRCm39) |
Q447K |
probably damaging |
Het |
Srsf12 |
A |
T |
4: 33,209,265 (GRCm39) |
R62W |
unknown |
Het |
Stag3 |
T |
C |
5: 138,289,628 (GRCm39) |
L266P |
probably damaging |
Het |
Sult2b1 |
T |
C |
7: 45,391,862 (GRCm39) |
|
probably benign |
Het |
Taf1a |
A |
G |
1: 183,190,095 (GRCm39) |
T66A |
|
Het |
Tfg |
A |
T |
16: 56,532,972 (GRCm39) |
|
probably null |
Het |
Trim34b |
A |
G |
7: 103,985,604 (GRCm39) |
N413S |
probably benign |
Het |
Txndc15 |
T |
A |
13: 55,869,399 (GRCm39) |
M184K |
probably damaging |
Het |
Umodl1 |
A |
C |
17: 31,201,306 (GRCm39) |
S412R |
probably damaging |
Het |
Zbtb8b |
T |
A |
4: 129,326,683 (GRCm39) |
M161L |
probably benign |
Het |
Zfp597 |
A |
T |
16: 3,684,369 (GRCm39) |
V129E |
probably benign |
Het |
Zfp790 |
T |
C |
7: 29,528,050 (GRCm39) |
I245T |
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 |
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 |
R7212:Adamts13
|
UTSW |
2 |
26,896,326 (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'- CTGTGAAGAGTGGTCCTATCC -3'
(R):5'- CCCAAATGACTGCCTCAAGG -3'
Sequencing Primer
(F):5'- CCACTTAATAGACTGCTGACCTGTG -3'
(R):5'- CTGCCTCAAGGATTAATAAGTGAGTG -3'
|
Posted On |
2019-09-13 |