Incidental Mutation 'R7783:Adamts13'
ID |
599354 |
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 |
045839-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.092)
|
Stock # |
R7783 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
26863428-26899640 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 26880597 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Serine
at position 727
(A727S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099955
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102891]
|
AlphaFold |
Q769J6 |
Predicted Effect |
not run
Transcript: ENSMUST00000102891
AA Change: A727S
|
SMART Domains |
Protein: ENSMUSP00000099955 Gene: ENSMUSG00000014852 AA Change: A727S
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: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb9 |
G |
T |
5: 124,216,875 (GRCm39) |
Y447* |
probably null |
Het |
Abl2 |
T |
C |
1: 156,386,641 (GRCm39) |
V8A |
probably benign |
Het |
Adam33 |
C |
T |
2: 130,900,257 (GRCm39) |
R103K |
unknown |
Het |
Ajm1 |
A |
T |
2: 25,467,820 (GRCm39) |
L697Q |
probably damaging |
Het |
Alpk2 |
A |
T |
18: 65,439,325 (GRCm39) |
C689* |
probably null |
Het |
Amt |
C |
T |
9: 108,174,414 (GRCm39) |
Q60* |
probably null |
Het |
Ankrd12 |
A |
G |
17: 66,334,245 (GRCm39) |
|
probably null |
Het |
Ankrd28 |
A |
T |
14: 31,428,770 (GRCm39) |
N920K |
probably damaging |
Het |
Ankrd36 |
T |
C |
11: 5,585,359 (GRCm39) |
L390P |
probably damaging |
Het |
Arvcf |
T |
G |
16: 18,207,063 (GRCm39) |
H7Q |
probably benign |
Het |
Asns |
A |
G |
6: 7,677,978 (GRCm39) |
S367P |
probably damaging |
Het |
BC005537 |
C |
T |
13: 24,987,382 (GRCm39) |
R7W |
possibly damaging |
Het |
C7 |
T |
A |
15: 5,037,192 (GRCm39) |
H562L |
probably benign |
Het |
Ccdc77 |
T |
C |
6: 120,327,334 (GRCm39) |
D37G |
probably damaging |
Het |
Cdc14a |
C |
T |
3: 116,198,236 (GRCm39) |
A58T |
probably damaging |
Het |
Cdc42bpb |
C |
T |
12: 111,302,459 (GRCm39) |
|
probably null |
Het |
Cilk1 |
G |
T |
9: 78,042,927 (GRCm39) |
V51F |
probably damaging |
Het |
Corin |
A |
T |
5: 72,458,967 (GRCm39) |
F1068L |
probably benign |
Het |
Epb42 |
T |
G |
2: 120,864,916 (GRCm39) |
K58N |
probably benign |
Het |
Ercc3 |
T |
A |
18: 32,381,296 (GRCm39) |
S371T |
probably damaging |
Het |
Fam193a |
A |
C |
5: 34,588,524 (GRCm39) |
K358Q |
probably damaging |
Het |
Fem1a |
G |
A |
17: 56,564,522 (GRCm39) |
C205Y |
probably benign |
Het |
Fh1 |
G |
A |
1: 175,439,744 (GRCm39) |
T233M |
probably damaging |
Het |
Ftsj3 |
CCTTCTTCTTCTTCTTCT |
CCTTCTTCTTCTTCT |
11: 106,143,377 (GRCm39) |
|
probably benign |
Het |
Gabra6 |
T |
C |
11: 42,207,289 (GRCm39) |
N265S |
probably damaging |
Het |
Gm10801 |
C |
CGTG |
2: 98,494,152 (GRCm39) |
|
probably null |
Het |
Grm6 |
T |
A |
11: 50,753,909 (GRCm39) |
C738S |
probably damaging |
Het |
Gtsf1 |
C |
T |
15: 103,336,996 (GRCm39) |
|
probably benign |
Het |
Hcrtr2 |
T |
A |
9: 76,140,196 (GRCm39) |
Y364F |
probably damaging |
Het |
Ifit1bl1 |
T |
C |
19: 34,571,336 (GRCm39) |
I374V |
probably benign |
Het |
Il31ra |
A |
T |
13: 112,677,785 (GRCm39) |
F250L |
probably benign |
Het |
Iqgap1 |
A |
G |
7: 80,458,807 (GRCm39) |
V37A |
probably benign |
Het |
Izumo3 |
A |
T |
4: 92,033,260 (GRCm39) |
I182K |
probably damaging |
Het |
Kidins220 |
G |
A |
12: 25,038,555 (GRCm39) |
A36T |
probably damaging |
Het |
Lrrtm1 |
G |
T |
6: 77,221,236 (GRCm39) |
R231L |
probably damaging |
Het |
Mical2 |
A |
T |
7: 112,012,183 (GRCm39) |
S678C |
probably damaging |
Het |
Mme |
T |
G |
3: 63,272,288 (GRCm39) |
F629C |
probably damaging |
Het |
Muc5b |
T |
A |
7: 141,411,078 (GRCm39) |
H1341Q |
unknown |
Het |
Or13a28 |
A |
G |
7: 140,217,637 (GRCm39) |
T8A |
possibly damaging |
Het |
Or13p5 |
T |
A |
4: 118,592,099 (GRCm39) |
D124E |
probably damaging |
Het |
Or2y1e |
A |
G |
11: 49,219,029 (GRCm39) |
S264G |
probably benign |
Het |
Or5e1 |
A |
T |
7: 108,354,776 (GRCm39) |
T238S |
probably damaging |
Het |
Or5p70 |
A |
G |
7: 107,995,296 (GRCm39) |
H323R |
probably benign |
Het |
Parm1 |
A |
T |
5: 91,741,724 (GRCm39) |
M31L |
probably benign |
Het |
Pcdhb18 |
G |
A |
18: 37,622,874 (GRCm39) |
C68Y |
probably benign |
Het |
Pkn3 |
A |
T |
2: 29,969,634 (GRCm39) |
E35V |
probably damaging |
Het |
Pla2g4a |
A |
T |
1: 149,748,495 (GRCm39) |
Y238N |
probably damaging |
Het |
Pld6 |
T |
C |
11: 59,678,097 (GRCm39) |
D122G |
probably damaging |
Het |
Prag1 |
G |
T |
8: 36,570,409 (GRCm39) |
A331S |
possibly damaging |
Het |
Rbm44 |
A |
G |
1: 91,096,551 (GRCm39) |
D970G |
probably benign |
Het |
Rps6kc1 |
A |
G |
1: 190,505,851 (GRCm39) |
V1037A |
probably benign |
Het |
Slc12a7 |
T |
C |
13: 73,953,588 (GRCm39) |
V766A |
probably benign |
Het |
Spata18 |
A |
G |
5: 73,825,953 (GRCm39) |
T87A |
|
Het |
St3gal3 |
T |
C |
4: 117,797,320 (GRCm39) |
M308V |
probably benign |
Het |
Stx19 |
T |
C |
16: 62,642,649 (GRCm39) |
L155S |
probably benign |
Het |
Tespa1 |
A |
T |
10: 130,192,752 (GRCm39) |
T145S |
probably damaging |
Het |
Timm21 |
A |
C |
18: 84,965,846 (GRCm39) |
F221V |
possibly damaging |
Het |
Tlr1 |
A |
T |
5: 65,082,264 (GRCm39) |
F771Y |
probably damaging |
Het |
Tmem150a |
C |
A |
6: 72,335,606 (GRCm39) |
L125I |
unknown |
Het |
Try4 |
T |
C |
6: 41,279,229 (GRCm39) |
L4P |
possibly damaging |
Het |
Txlna |
C |
T |
4: 129,525,950 (GRCm39) |
R299H |
probably damaging |
Het |
Txndc16 |
A |
T |
14: 45,382,417 (GRCm39) |
N609K |
probably benign |
Het |
Upf1 |
T |
C |
8: 70,805,508 (GRCm39) |
T46A |
probably benign |
Het |
Zfp266 |
T |
C |
9: 20,411,626 (GRCm39) |
N184D |
probably benign |
Het |
Zfp407 |
A |
G |
18: 84,228,047 (GRCm39) |
V1854A |
possibly damaging |
Het |
Zfp626 |
T |
A |
7: 27,517,795 (GRCm39) |
C259S |
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 |
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 |
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 |
|
Posted On |
2019-11-26 |