Incidental Mutation 'R8076:Adamts13'
| ID |
629002 |
| 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 |
067510-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
R8076 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
26863428-26899640 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 26880624 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Threonine
at position 736
(P736T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099955
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014996]
[ENSMUST00000102891]
|
| AlphaFold |
Q769J6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000014996
AA Change: P736T
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000014996
Gene: ENSMUSG00000014852
AA Change: P736T
| 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 benign
Transcript: ENSMUST00000102891
AA Change: P736T
PolyPhen 2
Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000099955
Gene: ENSMUSG00000014852
AA Change: P736T
| 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 |
0.1520 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.8%
- 20x: 95.1%
|
| Validation Efficiency |
98% (62/63) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam9 |
T |
A |
8: 25,452,938 (GRCm39) |
R790* |
probably null |
Het |
| Aldh3b2 |
T |
A |
19: 4,028,859 (GRCm39) |
F176L |
possibly damaging |
Het |
| Aldoart2 |
A |
G |
12: 55,612,696 (GRCm39) |
E207G |
probably benign |
Het |
| Arid4b |
A |
T |
13: 14,361,535 (GRCm39) |
E753D |
probably benign |
Het |
| Cd160 |
T |
A |
3: 96,709,662 (GRCm39) |
T158S |
probably benign |
Het |
| Cd209g |
T |
A |
8: 4,185,195 (GRCm39) |
M1K |
probably null |
Het |
| Chrm4 |
A |
G |
2: 91,758,204 (GRCm39) |
Y204C |
probably damaging |
Het |
| Cyld |
T |
A |
8: 89,456,346 (GRCm39) |
N465K |
probably benign |
Het |
| Dchs1 |
A |
T |
7: 105,405,128 (GRCm39) |
H2471Q |
possibly damaging |
Het |
| Dchs1 |
A |
G |
7: 105,411,189 (GRCm39) |
V1612A |
probably damaging |
Het |
| Ddx24 |
A |
G |
12: 103,382,477 (GRCm39) |
V702A |
probably damaging |
Het |
| Dnah8 |
A |
G |
17: 31,003,127 (GRCm39) |
T3609A |
possibly damaging |
Het |
| Dock5 |
A |
T |
14: 68,040,426 (GRCm39) |
|
probably null |
Het |
| Dpy19l2 |
C |
T |
9: 24,591,988 (GRCm39) |
R205H |
probably damaging |
Het |
| Eif3a |
A |
T |
19: 60,762,363 (GRCm39) |
D473E |
probably damaging |
Het |
| Elapor1 |
G |
T |
3: 108,399,398 (GRCm39) |
T64K |
probably benign |
Het |
| Elobl |
T |
C |
11: 88,855,796 (GRCm39) |
E89G |
possibly damaging |
Het |
| Fam186a |
A |
T |
15: 99,841,351 (GRCm39) |
I1631N |
possibly damaging |
Het |
| Fbn2 |
C |
T |
18: 58,159,496 (GRCm39) |
W2411* |
probably null |
Het |
| Fbxl17 |
A |
G |
17: 63,367,360 (GRCm39) |
I671T |
probably damaging |
Het |
| Glul |
C |
T |
1: 153,782,868 (GRCm39) |
T193I |
possibly damaging |
Het |
| Grm7 |
A |
G |
6: 111,543,000 (GRCm39) |
Y907C |
probably damaging |
Het |
| H4c16 |
A |
G |
6: 136,781,124 (GRCm39) |
M85T |
probably benign |
Het |
| Hr |
A |
G |
14: 70,795,381 (GRCm39) |
T309A |
probably benign |
Het |
| Ighg3 |
A |
G |
12: 113,324,158 (GRCm39) |
S110P |
probably benign |
Het |
| Llgl2 |
A |
G |
11: 115,737,755 (GRCm39) |
E180G |
possibly damaging |
Het |
| Mat2b |
A |
T |
11: 40,576,092 (GRCm39) |
L112Q |
probably damaging |
Het |
| Mcoln2 |
T |
C |
3: 145,896,169 (GRCm39) |
M497T |
probably damaging |
Het |
| Mmp24 |
C |
A |
2: 155,649,481 (GRCm39) |
Y299* |
probably null |
Het |
| Mtor |
T |
C |
4: 148,610,260 (GRCm39) |
|
probably null |
Het |
| Olig2 |
C |
A |
16: 91,023,299 (GRCm39) |
D4E |
probably damaging |
Het |
| Or10ag2 |
A |
T |
2: 87,248,889 (GRCm39) |
I164L |
probably benign |
Het |
| Pard3 |
T |
C |
8: 128,142,077 (GRCm39) |
S878P |
probably damaging |
Het |
| Pcgf5 |
C |
T |
19: 36,417,483 (GRCm39) |
P137L |
probably damaging |
Het |
| Pck1 |
A |
G |
2: 172,997,071 (GRCm39) |
N238D |
probably damaging |
Het |
| Pstpip1 |
T |
C |
9: 56,035,064 (GRCm39) |
S346P |
probably benign |
Het |
| Qsox2 |
G |
A |
2: 26,114,897 (GRCm39) |
H40Y |
possibly damaging |
Het |
| Rbpj |
T |
C |
5: 53,799,479 (GRCm39) |
I129T |
probably damaging |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Saal1 |
G |
A |
7: 46,360,031 (GRCm39) |
P9L |
probably benign |
Het |
| Sema3c |
A |
G |
5: 17,932,362 (GRCm39) |
I622V |
probably benign |
Het |
| Sigirr |
C |
T |
7: 140,671,785 (GRCm39) |
V333M |
probably benign |
Het |
| Sort1 |
T |
C |
3: 108,246,183 (GRCm39) |
S387P |
probably damaging |
Het |
| Spata31h1 |
A |
C |
10: 82,132,520 (GRCm39) |
Y163* |
probably null |
Het |
| Spta1 |
T |
A |
1: 174,014,797 (GRCm39) |
S426T |
probably benign |
Het |
| Stag3 |
G |
A |
5: 138,281,404 (GRCm39) |
S124N |
probably damaging |
Het |
| Stard10 |
A |
G |
7: 100,993,176 (GRCm39) |
Y244C |
probably damaging |
Het |
| Tcea3 |
T |
A |
4: 135,995,440 (GRCm39) |
I261N |
probably damaging |
Het |
| Tdrd1 |
A |
G |
19: 56,832,267 (GRCm39) |
K395E |
probably damaging |
Het |
| Tenm2 |
T |
A |
11: 35,918,048 (GRCm39) |
D1905V |
probably benign |
Het |
| Trim12c |
T |
C |
7: 103,990,037 (GRCm39) |
Y480C |
unknown |
Het |
| Trip11 |
A |
G |
12: 101,849,741 (GRCm39) |
V1441A |
probably damaging |
Het |
| Ttc21a |
G |
A |
9: 119,795,392 (GRCm39) |
R1107Q |
probably benign |
Het |
| Wdr41 |
A |
G |
13: 95,153,838 (GRCm39) |
I296V |
probably benign |
Het |
| Zdbf2 |
T |
A |
1: 63,345,260 (GRCm39) |
V1213E |
possibly damaging |
Het |
| Zfp37 |
T |
C |
4: 62,109,553 (GRCm39) |
N545D |
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 |
|
R7783:Adamts13
|
UTSW |
2 |
26,880,597 (GRCm39) |
missense |
not run |
|
|
R7814:Adamts13
|
UTSW |
2 |
26,886,561 (GRCm39) |
missense |
probably benign |
|
|
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'- TTCAACTGAAGCAGCAGGC -3'
(R):5'- TGTCCTCACTCACAGAACGAAG -3'
Sequencing Primer
(F):5'- TAAGCGTGGACCCTGCTCAG -3'
(R):5'- TCACTCACAGAACGAAGACACTG -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation