Incidental Mutation 'IGL01924:Adamts13'
| ID |
180213 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Adamts13
|
| Ensembl Gene |
ENSMUSG00000014852 |
| Gene Name |
a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 13 |
| Synonyms |
vWF-CP mRNA for von Willebrand factor-cleaving, LOC279028 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
IGL01924
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
26973416-27009628 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 26996583 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 938
(E938G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099955
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014996]
[ENSMUST00000102891]
|
| AlphaFold |
Q769J6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000014996
AA Change: E938G
PolyPhen 2
Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000014996
Gene: ENSMUSG00000014852
AA Change: E938G
| 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 |
possibly damaging
Transcript: ENSMUST00000102891
AA Change: E938G
PolyPhen 2
Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000099955
Gene: ENSMUSG00000014852
AA Change: E938G
| 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 |
0.0941 |
| Coding Region Coverage |
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
C |
T |
5: 114,223,986 (GRCm38) |
|
probably benign |
Het |
| Aox2 |
C |
T |
1: 58,287,743 (GRCm38) |
T167I |
possibly damaging |
Het |
| Apba3 |
G |
T |
10: 81,273,073 (GRCm38) |
A557S |
probably benign |
Het |
| Atad2b |
T |
C |
12: 5,034,093 (GRCm38) |
L1382P |
probably damaging |
Het |
| Atrn |
C |
T |
2: 130,935,565 (GRCm38) |
T178I |
probably damaging |
Het |
| B4galnt1 |
A |
G |
10: 127,166,761 (GRCm38) |
S88G |
probably benign |
Het |
| Baz2b |
T |
C |
2: 59,935,271 (GRCm38) |
K887E |
probably damaging |
Het |
| Ccdc162 |
A |
C |
10: 41,569,887 (GRCm38) |
F430V |
probably damaging |
Het |
| Cdc42bpb |
T |
A |
12: 111,317,453 (GRCm38) |
|
probably benign |
Het |
| Chit1 |
A |
G |
1: 134,149,410 (GRCm38) |
D317G |
probably benign |
Het |
| Chrnb1 |
A |
T |
11: 69,795,019 (GRCm38) |
|
probably benign |
Het |
| Cobl |
G |
T |
11: 12,254,596 (GRCm38) |
T620K |
probably benign |
Het |
| Creld1 |
T |
C |
6: 113,483,960 (GRCm38) |
F20L |
probably benign |
Het |
| Csmd2 |
A |
T |
4: 128,559,947 (GRCm38) |
D3475V |
unknown |
Het |
| Cyp3a57 |
A |
G |
5: 145,372,629 (GRCm38) |
D259G |
probably benign |
Het |
| Dbnl |
A |
G |
11: 5,797,142 (GRCm38) |
Y224C |
probably damaging |
Het |
| Det1 |
A |
T |
7: 78,843,823 (GRCm38) |
C144* |
probably null |
Het |
| Fbxo47 |
G |
T |
11: 97,856,160 (GRCm38) |
A360D |
probably damaging |
Het |
| Frrs1 |
G |
A |
3: 116,885,239 (GRCm38) |
G237R |
probably damaging |
Het |
| Gatsl2 |
T |
C |
5: 134,135,602 (GRCm38) |
F134S |
probably benign |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm38) |
Y194F |
probably benign |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Gm4788 |
G |
A |
1: 139,739,206 (GRCm38) |
L444F |
probably damaging |
Het |
| Gm5862 |
A |
C |
5: 26,022,771 (GRCm38) |
W41G |
probably benign |
Het |
| Gria2 |
T |
C |
3: 80,710,331 (GRCm38) |
T372A |
probably benign |
Het |
| Hmcn2 |
A |
T |
2: 31,398,917 (GRCm38) |
Q2246L |
probably benign |
Het |
| Ide |
T |
C |
19: 37,272,164 (GRCm38) |
M930V |
unknown |
Het |
| Kdm5a |
T |
C |
6: 120,394,255 (GRCm38) |
|
probably null |
Het |
| Khnyn |
A |
G |
14: 55,894,969 (GRCm38) |
T625A |
probably benign |
Het |
| Lrrtm1 |
T |
C |
6: 77,244,186 (GRCm38) |
F209L |
possibly damaging |
Het |
| Med13 |
C |
A |
11: 86,308,696 (GRCm38) |
|
probably benign |
Het |
| Myom2 |
A |
G |
8: 15,069,685 (GRCm38) |
E147G |
probably benign |
Het |
| Myrip |
T |
A |
9: 120,388,264 (GRCm38) |
V88D |
probably damaging |
Het |
| Nbeal2 |
T |
C |
9: 110,631,414 (GRCm38) |
H1784R |
probably benign |
Het |
| Nlrp4e |
T |
A |
7: 23,320,830 (GRCm38) |
C247* |
probably null |
Het |
| Nup54 |
G |
A |
5: 92,424,435 (GRCm38) |
P252L |
probably benign |
Het |
| Olfr610 |
A |
G |
7: 103,506,796 (GRCm38) |
I50T |
possibly damaging |
Het |
| Otoa |
C |
A |
7: 121,105,968 (GRCm38) |
N244K |
probably damaging |
Het |
| Pbrm1 |
G |
A |
14: 31,082,604 (GRCm38) |
R960H |
probably damaging |
Het |
| Ptcd3 |
A |
T |
6: 71,898,427 (GRCm38) |
N190K |
probably damaging |
Het |
| Rhobtb1 |
T |
A |
10: 69,270,304 (GRCm38) |
L233H |
probably damaging |
Het |
| Sec24c |
T |
A |
14: 20,689,689 (GRCm38) |
F545I |
probably damaging |
Het |
| Slc6a15 |
T |
C |
10: 103,404,825 (GRCm38) |
|
probably null |
Het |
| Slitrk1 |
G |
A |
14: 108,911,239 (GRCm38) |
A680V |
probably benign |
Het |
| Smpd1 |
C |
T |
7: 105,555,448 (GRCm38) |
S178L |
probably benign |
Het |
| Spindoc |
A |
G |
19: 7,382,677 (GRCm38) |
L42P |
probably damaging |
Het |
| Tenm4 |
A |
G |
7: 96,895,212 (GRCm38) |
E2145G |
probably damaging |
Het |
| Tmem144 |
G |
T |
3: 79,839,194 (GRCm38) |
A18E |
probably damaging |
Het |
| Tmem213 |
A |
T |
6: 38,109,438 (GRCm38) |
S10C |
possibly damaging |
Het |
| Trav6-3 |
A |
T |
14: 53,430,343 (GRCm38) |
I102L |
probably benign |
Het |
| Trip11 |
T |
G |
12: 101,886,884 (GRCm38) |
N483T |
possibly damaging |
Het |
| Unc13b |
C |
T |
4: 43,239,385 (GRCm38) |
R1056* |
probably null |
Het |
| Wdr27 |
T |
G |
17: 14,917,226 (GRCm38) |
K433N |
probably damaging |
Het |
| Wls |
C |
A |
3: 159,901,443 (GRCm38) |
S189* |
probably null |
Het |
| Yeats2 |
A |
G |
16: 20,206,167 (GRCm38) |
N706D |
probably damaging |
Het |
| Zbp1 |
A |
G |
2: 173,212,254 (GRCm38) |
V158A |
probably benign |
Het |
| Zfp595 |
G |
T |
13: 67,317,783 (GRCm38) |
H139N |
possibly damaging |
Het |
|
| Other mutations in Adamts13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00089:Adamts13
|
APN |
2 |
27,005,361 (GRCm38) |
missense |
probably benign |
0.04 |
|
IGL00465:Adamts13
|
APN |
2 |
26,973,555 (GRCm38) |
missense |
probably benign |
0.32 |
|
IGL01114:Adamts13
|
APN |
2 |
27,005,190 (GRCm38) |
missense |
probably benign |
0.41 |
|
IGL01138:Adamts13
|
APN |
2 |
26,983,042 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01154:Adamts13
|
APN |
2 |
27,006,194 (GRCm38) |
missense |
probably benign |
|
|
IGL01860:Adamts13
|
APN |
2 |
26,978,011 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL01991:Adamts13
|
APN |
2 |
26,990,598 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL02215:Adamts13
|
APN |
2 |
26,985,483 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02415:Adamts13
|
APN |
2 |
26,989,283 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
IGL02519:Adamts13
|
APN |
2 |
26,978,675 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02956:Adamts13
|
APN |
2 |
26,983,037 (GRCm38) |
missense |
probably benign |
0.18 |
|
IGL03209:Adamts13
|
APN |
2 |
26,992,961 (GRCm38) |
missense |
probably benign |
0.00 |
|
I1329:Adamts13
|
UTSW |
2 |
26,973,619 (GRCm38) |
missense |
possibly damaging |
0.52 |
|
IGL02837:Adamts13
|
UTSW |
2 |
26,991,420 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL03048:Adamts13
|
UTSW |
2 |
26,978,699 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0041:Adamts13
|
UTSW |
2 |
26,983,974 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0217:Adamts13
|
UTSW |
2 |
26,996,921 (GRCm38) |
splice site |
probably benign |
|
|
R0276:Adamts13
|
UTSW |
2 |
26,975,760 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R0309:Adamts13
|
UTSW |
2 |
26,986,989 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0348:Adamts13
|
UTSW |
2 |
26,981,080 (GRCm38) |
missense |
probably benign |
0.13 |
|
R0369:Adamts13
|
UTSW |
2 |
27,005,186 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0386:Adamts13
|
UTSW |
2 |
26,986,679 (GRCm38) |
splice site |
probably null |
|
|
R0553:Adamts13
|
UTSW |
2 |
26,991,334 (GRCm38) |
nonsense |
probably null |
|
|
R0714:Adamts13
|
UTSW |
2 |
26,986,985 (GRCm38) |
splice site |
probably benign |
|
|
R0862:Adamts13
|
UTSW |
2 |
27,006,324 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1320:Adamts13
|
UTSW |
2 |
26,989,246 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R1458:Adamts13
|
UTSW |
2 |
26,988,354 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1473:Adamts13
|
UTSW |
2 |
26,981,753 (GRCm38) |
nonsense |
probably null |
|
|
R1491:Adamts13
|
UTSW |
2 |
26,978,315 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1588:Adamts13
|
UTSW |
2 |
26,975,675 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1638:Adamts13
|
UTSW |
2 |
26,996,583 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R1724:Adamts13
|
UTSW |
2 |
26,991,294 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1924:Adamts13
|
UTSW |
2 |
26,984,141 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2001:Adamts13
|
UTSW |
2 |
26,973,990 (GRCm38) |
missense |
probably benign |
|
|
R2072:Adamts13
|
UTSW |
2 |
27,005,425 (GRCm38) |
missense |
probably benign |
0.10 |
|
R2073:Adamts13
|
UTSW |
2 |
27,006,314 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2409:Adamts13
|
UTSW |
2 |
26,978,362 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4362:Adamts13
|
UTSW |
2 |
27,004,782 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4363:Adamts13
|
UTSW |
2 |
27,004,782 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4422:Adamts13
|
UTSW |
2 |
27,005,400 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4769:Adamts13
|
UTSW |
2 |
27,008,711 (GRCm38) |
nonsense |
probably null |
|
|
R4785:Adamts13
|
UTSW |
2 |
26,983,042 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4831:Adamts13
|
UTSW |
2 |
26,983,130 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4832:Adamts13
|
UTSW |
2 |
26,989,402 (GRCm38) |
missense |
probably benign |
0.22 |
|
R4945:Adamts13
|
UTSW |
2 |
26,986,610 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5047:Adamts13
|
UTSW |
2 |
26,996,910 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5126:Adamts13
|
UTSW |
2 |
26,996,915 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5161:Adamts13
|
UTSW |
2 |
26,993,008 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5394:Adamts13
|
UTSW |
2 |
26,986,558 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5557:Adamts13
|
UTSW |
2 |
26,973,639 (GRCm38) |
missense |
probably benign |
0.05 |
|
R5660:Adamts13
|
UTSW |
2 |
26,996,749 (GRCm38) |
missense |
probably benign |
|
|
R5890:Adamts13
|
UTSW |
2 |
26,986,591 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R6168:Adamts13
|
UTSW |
2 |
27,004,886 (GRCm38) |
missense |
probably benign |
0.37 |
|
R6536:Adamts13
|
UTSW |
2 |
26,975,750 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6929:Adamts13
|
UTSW |
2 |
27,006,263 (GRCm38) |
nonsense |
probably null |
|
|
R7207:Adamts13
|
UTSW |
2 |
26,978,695 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7211:Adamts13
|
UTSW |
2 |
26,989,298 (GRCm38) |
missense |
probably benign |
0.40 |
|
R7212:Adamts13
|
UTSW |
2 |
27,006,314 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7392:Adamts13
|
UTSW |
2 |
26,989,324 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7583:Adamts13
|
UTSW |
2 |
26,973,953 (GRCm38) |
missense |
probably benign |
|
|
R7604:Adamts13
|
UTSW |
2 |
27,005,206 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7783:Adamts13
|
UTSW |
2 |
26,990,585 (GRCm38) |
missense |
not run |
|
|
R7814:Adamts13
|
UTSW |
2 |
26,996,549 (GRCm38) |
missense |
probably benign |
|
|
R8076:Adamts13
|
UTSW |
2 |
26,990,612 (GRCm38) |
missense |
probably benign |
0.06 |
|
R8245:Adamts13
|
UTSW |
2 |
26,990,556 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8526:Adamts13
|
UTSW |
2 |
26,978,000 (GRCm38) |
missense |
probably benign |
|
|
R9112:Adamts13
|
UTSW |
2 |
26,990,367 (GRCm38) |
missense |
possibly damaging |
0.60 |
|
R9147:Adamts13
|
UTSW |
2 |
26,993,012 (GRCm38) |
missense |
probably benign |
|
|
R9148:Adamts13
|
UTSW |
2 |
26,993,012 (GRCm38) |
missense |
probably benign |
|
|
R9704:Adamts13
|
UTSW |
2 |
27,005,225 (GRCm38) |
missense |
|
|
|
R9743:Adamts13
|
UTSW |
2 |
27,005,479 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9743:Adamts13
|
UTSW |
2 |
26,996,800 (GRCm38) |
missense |
probably benign |
0.16 |
|
X0027:Adamts13
|
UTSW |
2 |
26,985,546 (GRCm38) |
nonsense |
probably null |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation