Incidental Mutation 'R5557:Adamts13'
| ID |
435429 |
| 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 |
043114-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
R5557 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
26863428-26899640 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 26863651 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 35
(S35P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000014996
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014996]
[ENSMUST00000102891]
|
| AlphaFold |
Q769J6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000014996
AA Change: S35P
PolyPhen 2
Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000014996
Gene: ENSMUSG00000014852
AA Change: S35P
| 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: S35P
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000099955
Gene: ENSMUSG00000014852
AA Change: S35P
| 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 |
0.0948 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.7%
|
| Validation Efficiency |
100% (72/72) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810055G02Rik |
T |
A |
19: 3,767,501 (GRCm39) |
F363I |
possibly damaging |
Het |
| Abcb1a |
T |
A |
5: 8,764,949 (GRCm39) |
N646K |
probably benign |
Het |
| Abi2 |
C |
A |
1: 60,478,071 (GRCm39) |
|
probably benign |
Het |
| B4galt3 |
A |
G |
1: 171,100,089 (GRCm39) |
|
probably null |
Het |
| Bag5 |
T |
C |
12: 111,676,524 (GRCm39) |
N433S |
probably benign |
Het |
| Birc7 |
T |
A |
2: 180,574,772 (GRCm39) |
V218D |
probably benign |
Het |
| Catsperg1 |
T |
G |
7: 28,895,296 (GRCm39) |
N332T |
possibly damaging |
Het |
| Ccdc191 |
A |
C |
16: 43,728,976 (GRCm39) |
T179P |
probably damaging |
Het |
| Col4a3 |
C |
T |
1: 82,692,968 (GRCm39) |
|
probably benign |
Het |
| Crlf1 |
A |
G |
8: 70,951,317 (GRCm39) |
I65M |
probably benign |
Het |
| Dennd4a |
T |
G |
9: 64,811,509 (GRCm39) |
D1376E |
probably benign |
Het |
| Dennd4b |
G |
A |
3: 90,175,675 (GRCm39) |
R148Q |
probably damaging |
Het |
| Dlg4 |
C |
T |
11: 69,933,106 (GRCm39) |
P504L |
probably damaging |
Het |
| Dop1b |
A |
G |
16: 93,560,819 (GRCm39) |
T886A |
probably damaging |
Het |
| Dst |
T |
A |
1: 34,321,667 (GRCm39) |
V4394E |
probably damaging |
Het |
| Endov |
T |
C |
11: 119,393,186 (GRCm39) |
M112T |
possibly damaging |
Het |
| Eps8 |
T |
C |
6: 137,456,094 (GRCm39) |
M796V |
possibly damaging |
Het |
| Fam107b |
T |
A |
2: 3,771,791 (GRCm39) |
Y7* |
probably null |
Het |
| Farsb |
C |
T |
1: 78,445,888 (GRCm39) |
|
probably null |
Het |
| Fasn |
A |
G |
11: 120,703,252 (GRCm39) |
M1591T |
probably benign |
Het |
| Fbn2 |
C |
T |
18: 58,248,731 (GRCm39) |
A384T |
probably benign |
Het |
| Fnta |
T |
C |
8: 26,489,564 (GRCm39) |
D349G |
probably damaging |
Het |
| Glis3 |
G |
T |
19: 28,241,409 (GRCm39) |
H842N |
probably benign |
Het |
| Gm17067 |
G |
A |
7: 42,357,945 (GRCm39) |
P186S |
probably damaging |
Het |
| Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
| Hk3 |
A |
T |
13: 55,159,888 (GRCm39) |
L362* |
probably null |
Het |
| Ing3 |
A |
G |
6: 21,968,908 (GRCm39) |
H130R |
possibly damaging |
Het |
| Inpp4b |
A |
T |
8: 82,678,888 (GRCm39) |
Q306L |
probably damaging |
Het |
| Kcnq2 |
T |
C |
2: 180,776,690 (GRCm39) |
K66E |
probably benign |
Het |
| Kif21b |
C |
A |
1: 136,097,797 (GRCm39) |
N1352K |
probably damaging |
Het |
| Lrig3 |
A |
T |
10: 125,808,003 (GRCm39) |
N84Y |
probably damaging |
Het |
| Mill2 |
T |
A |
7: 18,589,884 (GRCm39) |
Y55* |
probably null |
Het |
| Mmachc |
T |
C |
4: 116,563,097 (GRCm39) |
H86R |
probably damaging |
Het |
| Ncbp1 |
T |
C |
4: 46,165,259 (GRCm39) |
V524A |
probably benign |
Het |
| Or10ag54 |
A |
T |
2: 87,099,736 (GRCm39) |
T204S |
possibly damaging |
Het |
| Or1q1 |
T |
A |
2: 36,887,358 (GRCm39) |
C179S |
probably damaging |
Het |
| Or4c102 |
G |
A |
2: 88,422,897 (GRCm39) |
V250M |
probably damaging |
Het |
| Or5af1 |
G |
A |
11: 58,722,813 (GRCm39) |
V278I |
probably benign |
Het |
| Or5b101 |
C |
A |
19: 13,005,004 (GRCm39) |
A230S |
probably benign |
Het |
| Or7g19 |
T |
C |
9: 18,856,466 (GRCm39) |
I174T |
possibly damaging |
Het |
| Pigu |
G |
T |
2: 155,120,549 (GRCm39) |
Y404* |
probably null |
Het |
| Plaa |
A |
T |
4: 94,472,244 (GRCm39) |
|
probably null |
Het |
| Plcg2 |
A |
T |
8: 118,313,296 (GRCm39) |
I487F |
probably damaging |
Het |
| Plekhh2 |
T |
C |
17: 84,867,580 (GRCm39) |
I162T |
probably benign |
Het |
| Ptprz1 |
T |
A |
6: 23,001,000 (GRCm39) |
V1030D |
probably benign |
Het |
| Raver2 |
C |
A |
4: 100,993,336 (GRCm39) |
S505R |
probably benign |
Het |
| Samd7 |
A |
T |
3: 30,810,769 (GRCm39) |
Q262L |
probably benign |
Het |
| Scn9a |
T |
A |
2: 66,377,447 (GRCm39) |
N412Y |
probably damaging |
Het |
| Sytl1 |
C |
A |
4: 132,986,667 (GRCm39) |
R91M |
probably damaging |
Het |
| Tead3 |
A |
T |
17: 28,555,244 (GRCm39) |
|
probably benign |
Het |
| Tgm1 |
A |
G |
14: 55,943,100 (GRCm39) |
M580T |
probably benign |
Het |
| Themis |
A |
T |
10: 28,657,882 (GRCm39) |
Q150L |
possibly damaging |
Het |
| Tmem213 |
T |
C |
6: 38,086,466 (GRCm39) |
S41P |
possibly damaging |
Het |
| Tnks1bp1 |
T |
C |
2: 84,894,144 (GRCm39) |
V695A |
probably damaging |
Het |
| Trim23 |
A |
T |
13: 104,324,017 (GRCm39) |
T159S |
probably damaging |
Het |
| Trim66 |
T |
C |
7: 109,082,944 (GRCm39) |
Y166C |
probably benign |
Het |
| Troap |
A |
T |
15: 98,973,675 (GRCm39) |
T111S |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,720,734 (GRCm39) |
|
probably null |
Het |
| Tub |
T |
G |
7: 108,624,925 (GRCm39) |
S180A |
probably damaging |
Het |
| Vcan |
A |
G |
13: 89,851,231 (GRCm39) |
V1243A |
possibly damaging |
Het |
| Zfp608 |
T |
C |
18: 55,120,942 (GRCm39) |
D215G |
possibly damaging |
Het |
| Zfp638 |
T |
A |
6: 83,944,345 (GRCm39) |
V1021E |
probably damaging |
Het |
| Zim1 |
T |
A |
7: 6,680,710 (GRCm39) |
I318F |
probably 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 |
|
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'- AGAGTAAACACTGCCTGATGTCC -3'
(R):5'- TAGGCAGGGAAGATCAGTCC -3'
Sequencing Primer
(F):5'- GCCAGCAAGTGAACATTGC -3'
(R):5'- GGGAAGATCAGTCCACATACTGC -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation