Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00465:Adamts13'

332133

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

NCBI RefSeq: NM_001001322.2; MGI:2685556

Is this an essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

IGL00465

Quality Score

Status

Chromosome

Chromosomal Location

26973416-27009628 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 26973555 bp

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 7 (W7R)

Ref Sequence

ENSEMBL: ENSMUSP00000014996 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014996] [ENSMUST00000102891]

Predicted Effect

probably benign
Transcript: ENSMUST00000014996
AA Change: W7R

PolyPhen 2 Score 0.319 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000014996
Gene: ENSMUSG00000014852
AA Change: W7R

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: W7R

PolyPhen 2 Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000099955
Gene: ENSMUSG00000014852
AA Change: W7R

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

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5830411N06Rik	A	G	7: 140,294,842	Y411C	probably damaging	Het
A1bg	A	T	15: 60,921,253	S2T	probably damaging	Het
Anks6	T	A	4: 47,046,054	D279V	probably damaging	Het
C4bp	A	T	1: 130,639,134	L335Q	probably damaging	Het
Cd109	A	T	9: 78,660,934	K299*	probably null	Het
Cd200r2	A	T	16: 44,909,288	H102L	probably damaging	Het
Col12a1	A	G	9: 79,697,581	Y662H	probably damaging	Het
Cyp2c37	T	C	19: 40,001,997	F380L	probably benign	Het
Deup1	A	G	9: 15,561,370	S549P	probably damaging	Het
Dysf	G	T	6: 84,199,848		probably null	Het
Etaa1	A	T	11: 17,947,825	C166*	probably null	Het
Fam227b	T	C	2: 126,144,325		probably null	Het
Gucy1b2	T	G	14: 62,403,200	Q752P	probably benign	Het
Hal	T	C	10: 93,490,069		probably null	Het
Hao1	C	A	2: 134,554,270	K21N	probably damaging	Het
Itga4	T	C	2: 79,292,050	F536L	probably benign	Het
Lmod3	A	T	6: 97,247,861	I333N	probably damaging	Het
Mgme1	T	A	2: 144,279,516	D297E	probably damaging	Het
Myh2	G	T	11: 67,178,833		probably benign	Het
Myo7a	A	G	7: 98,102,626	M70T	probably damaging	Het
Nav3	T	C	10: 109,852,746	T557A	probably damaging	Het
Nif3l1	C	A	1: 58,455,686	H271Q	possibly damaging	Het
Nostrin	A	G	2: 69,185,554		probably benign	Het
Nxn	C	A	11: 76,274,655		probably benign	Het
Pcdhb22	A	T	18: 37,520,132	D551V	probably damaging	Het
Pde4d	A	G	13: 109,936,687	D339G	possibly damaging	Het
Pkp4	T	A	2: 59,338,755	S408T	probably damaging	Het
Pxmp2	T	C	5: 110,283,716	T54A	probably benign	Het
Rif1	T	A	2: 52,121,007	V2362E	probably damaging	Het
Rps6kl1	A	G	12: 85,139,429	S276P	probably benign	Het
Scaf4	C	A	16: 90,247,281	M601I	unknown	Het
Setd7	T	A	3: 51,550,308	T33S	probably benign	Het
Shroom1	T	A	11: 53,464,094	D280E	probably benign	Het
Slc35f2	G	T	9: 53,798,014		probably null	Het
Slitrk3	T	A	3: 73,051,103	N112I	probably damaging	Het
Spag1	A	G	15: 36,183,821		probably benign	Het
Stx6	C	T	1: 155,201,933		probably benign	Het
Sun1	A	T	5: 139,234,685		probably null	Het
Tbl1xr1	G	A	3: 22,192,268		probably null	Het
Tmc2	T	C	2: 130,261,304	S787P	possibly damaging	Het
Traf3ip3	C	T	1: 193,194,820		probably benign	Het
Trip12	T	G	1: 84,763,861	H559P	probably damaging	Het
Trpm1	G	T	7: 64,247,467	M272I	possibly damaging	Het
Ttc21b	T	C	2: 66,242,775	E189G	probably benign	Het
Tubd1	T	C	11: 86,555,068		probably benign	Het
Vps13a	T	A	19: 16,752,175	T167S	probably damaging	Het
Zbtb3	A	G	19: 8,803,665	D214G	possibly damaging	Het
Zfp658	A	G	7: 43,567,356	D50G	probably benign	Het
Zfp976	T	A	7: 42,613,685	I243L	unknown	Het

Other mutations in Adamts13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Adamts13	APN	2	27005361	missense	probably benign	0.04
IGL01114:Adamts13	APN	2	27005190	missense	probably benign	0.41
IGL01138:Adamts13	APN	2	26983042	missense	probably damaging	1.00
IGL01154:Adamts13	APN	2	27006194	missense	probably benign
IGL01860:Adamts13	APN	2	26978011	missense	probably damaging	0.99
IGL01924:Adamts13	APN	2	26996583	missense	possibly damaging	0.80
IGL01991:Adamts13	APN	2	26990598	missense	probably damaging	0.97
IGL02215:Adamts13	APN	2	26985483	missense	probably damaging	1.00
IGL02415:Adamts13	APN	2	26989283	missense	possibly damaging	0.95
IGL02519:Adamts13	APN	2	26978675	missense	probably damaging	1.00
IGL02956:Adamts13	APN	2	26983037	missense	probably benign	0.18
IGL03209:Adamts13	APN	2	26992961	missense	probably benign	0.00
I1329:Adamts13	UTSW	2	26973619	missense	possibly damaging	0.52
IGL02837:Adamts13	UTSW	2	26991420	missense	probably benign	0.01
IGL03048:Adamts13	UTSW	2	26978699	critical splice donor site	probably null
R0041:Adamts13	UTSW	2	26983974	missense	probably damaging	1.00
R0217:Adamts13	UTSW	2	26996921	splice site	probably benign
R0276:Adamts13	UTSW	2	26975760	missense	possibly damaging	0.91
R0309:Adamts13	UTSW	2	26986989	missense	probably damaging	0.99
R0348:Adamts13	UTSW	2	26981080	missense	probably benign	0.13
R0369:Adamts13	UTSW	2	27005186	missense	probably benign	0.00
R0386:Adamts13	UTSW	2	26986679	splice site	probably null
R0553:Adamts13	UTSW	2	26991334	nonsense	probably null
R0714:Adamts13	UTSW	2	26986985	splice site	probably benign
R0862:Adamts13	UTSW	2	27006324	critical splice donor site	probably null
R1320:Adamts13	UTSW	2	26989246	missense	probably damaging	0.97
R1458:Adamts13	UTSW	2	26988354	missense	probably damaging	1.00
R1473:Adamts13	UTSW	2	26981753	nonsense	probably null
R1491:Adamts13	UTSW	2	26978315	missense	probably damaging	1.00
R1588:Adamts13	UTSW	2	26975675	missense	probably benign	0.01
R1638:Adamts13	UTSW	2	26996583	missense	possibly damaging	0.80
R1724:Adamts13	UTSW	2	26991294	missense	probably benign	0.00
R1924:Adamts13	UTSW	2	26984141	missense	probably damaging	1.00
R2001:Adamts13	UTSW	2	26973990	missense	probably benign
R2072:Adamts13	UTSW	2	27005425	missense	probably benign	0.10
R2073:Adamts13	UTSW	2	27006314	missense	probably damaging	1.00
R2409:Adamts13	UTSW	2	26978362	missense	probably benign	0.00
R4362:Adamts13	UTSW	2	27004782	missense	probably damaging	1.00
R4363:Adamts13	UTSW	2	27004782	missense	probably damaging	1.00
R4422:Adamts13	UTSW	2	27005400	missense	probably benign	0.00
R4769:Adamts13	UTSW	2	27008711	nonsense	probably null
R4785:Adamts13	UTSW	2	26983042	missense	probably damaging	1.00
R4831:Adamts13	UTSW	2	26983130	critical splice donor site	probably null
R4832:Adamts13	UTSW	2	26989402	missense	probably benign	0.22
R4945:Adamts13	UTSW	2	26986610	missense	probably damaging	1.00
R5047:Adamts13	UTSW	2	26996910	missense	probably damaging	0.98
R5126:Adamts13	UTSW	2	26996915	critical splice donor site	probably null
R5161:Adamts13	UTSW	2	26993008	missense	probably benign	0.00
R5394:Adamts13	UTSW	2	26986558	missense	probably benign	0.00
R5557:Adamts13	UTSW	2	26973639	missense	probably benign	0.05
R5660:Adamts13	UTSW	2	26996749	missense	probably benign
R5890:Adamts13	UTSW	2	26986591	missense	probably damaging	0.96
R6168:Adamts13	UTSW	2	27004886	missense	probably benign	0.37
R6536:Adamts13	UTSW	2	26975750	missense	probably damaging	0.99
R6929:Adamts13	UTSW	2	27006263	nonsense	probably null
R7207:Adamts13	UTSW	2	26978695	missense	probably damaging	1.00
R7211:Adamts13	UTSW	2	26989298	missense	probably benign	0.40
R7212:Adamts13	UTSW	2	27006314	missense	probably damaging	1.00
R7392:Adamts13	UTSW	2	26989324	missense	probably damaging	1.00
R7583:Adamts13	UTSW	2	26973953	missense	probably benign
R7604:Adamts13	UTSW	2	27005206	missense	probably benign	0.00
R7783:Adamts13	UTSW	2	26990585	missense	not run
R7814:Adamts13	UTSW	2	26996549	missense	probably benign
R8076:Adamts13	UTSW	2	26990612	missense	probably benign	0.06
R8245:Adamts13	UTSW	2	26990556	missense	probably damaging	1.00
R8526:Adamts13	UTSW	2	26978000	missense	probably benign
X0027:Adamts13	UTSW	2	26985546	nonsense	probably null

Posted On

2015-08-05