Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01138:Adamts13'

50603

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: 0.109) question?

Stock #

IGL01138

Quality Score

Status

Chromosome

Chromosomal Location

26973416-27009628 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 26983042 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 341 (S341P)

Ref Sequence

ENSEMBL: ENSMUSP00000099955 (fasta)

Gene Model

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

AlphaFold

Q769J6

Predicted Effect

probably damaging
Transcript: ENSMUST00000014996
AA Change: S341P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000014996
Gene: ENSMUSG00000014852
AA Change: S341P

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 damaging
Transcript: ENSMUST00000102891
AA Change: S341P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099955
Gene: ENSMUSG00000014852
AA Change: S341P

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930486L24Rik	A	G	13: 60,854,859	V27A	probably benign	Het
Abcg5	T	A	17: 84,664,847	R499S	possibly damaging	Het
Adgrg1	T	A	8: 95,003,457	C96S	probably damaging	Het
Arhgap44	A	G	11: 65,041,449	F215S	probably damaging	Het
Arhgef25	A	G	10: 127,184,170	F400L	probably damaging	Het
Baz1a	T	C	12: 54,930,325	E384G	probably damaging	Het
Col12a1	T	C	9: 79,678,053	D1314G	probably damaging	Het
Col6a3	T	A	1: 90,807,510	I806F	probably damaging	Het
Coro1c	G	A	5: 113,852,161		probably benign	Het
CT030661.1	G	A	17: 22,202,668		probably benign	Het
Dnmt3b	A	T	2: 153,661,441	D4V	probably benign	Het
Ermn	G	T	2: 58,052,695	L8M	possibly damaging	Het
F13b	T	A	1: 139,517,212	N533K	probably damaging	Het
Fam171a1	T	C	2: 3,202,620	V93A	possibly damaging	Het
Fam84b	T	A	15: 60,823,118	I260F	probably damaging	Het
Gpr107	T	A	2: 31,172,016	L152Q	probably benign	Het
Guca1a	C	A	17: 47,400,384	E12D	probably damaging	Het
Igtp	A	G	11: 58,206,144	N47S	possibly damaging	Het
Lrrc8e	A	G	8: 4,234,084	N103S	probably damaging	Het
Lsmem1	A	G	12: 40,180,699	L68P	probably damaging	Het
Maml3	A	G	3: 51,690,558	S902P	possibly damaging	Het
Mkln1	A	T	6: 31,432,990	N188Y	probably damaging	Het
Mlxip	C	T	5: 123,450,156	R771W	probably damaging	Het
Myf6	T	C	10: 107,494,398	R103G	probably damaging	Het
Ncam2	T	A	16: 81,517,579	I481K	probably damaging	Het
Nrap	T	A	19: 56,355,538	S645C	probably damaging	Het
Nup205	G	T	6: 35,208,084	E813*	probably null	Het
Olfr157	A	G	4: 43,835,617	L291P	probably damaging	Het
Plekhg5	C	T	4: 152,106,978	R410W	probably damaging	Het
Pnmal2	C	A	7: 16,945,163	T24K	unknown	Het
Polq	A	T	16: 37,045,869	Y476F	possibly damaging	Het
Prkd2	T	C	7: 16,848,811	S200P	probably damaging	Het
Rif1	C	A	2: 52,111,522	L1663I	probably damaging	Het
Serpina5	A	G	12: 104,103,744	Y300C	possibly damaging	Het
Shroom4	T	C	X: 6,585,203	S806P	probably damaging	Het
Sirpa	T	C	2: 129,630,165	V290A	probably damaging	Het
Slc25a47	C	T	12: 108,856,022	R246C	probably damaging	Het
Slc9a6	A	G	X: 56,623,431	D199G	probably damaging	Het
Smarca5	T	A	8: 80,701,076	K1048M	possibly damaging	Het
Sos2	C	T	12: 69,616,849		probably benign	Het
Trpm5	T	A	7: 143,074,569	M990L	probably benign	Het
Vmn2r99	A	T	17: 19,382,623	T547S	probably damaging	Het
Vps13b	T	C	15: 35,446,770		probably benign	Het

Other mutations in Adamts13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Adamts13	APN	2	27005361	missense	probably benign	0.04
IGL00465:Adamts13	APN	2	26973555	missense	probably benign	0.32
IGL01114:Adamts13	APN	2	27005190	missense	probably benign	0.41
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
R9112:Adamts13	UTSW	2	26990367	missense	possibly damaging	0.60
R9147:Adamts13	UTSW	2	26993012	missense	probably benign
R9148:Adamts13	UTSW	2	26993012	missense	probably benign
X0027:Adamts13	UTSW	2	26985546	nonsense	probably null

Posted On

2013-06-21