Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03209:Adamts13'

413232

Institutional Source

Australian Phenomics Network (link to record)

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

IGL03209

Quality Score

Status

Chromosome

Chromosomal Location

26863428-26899640 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 26882973 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 841 (A841V)

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: A841V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000014996
Gene: ENSMUSG00000014852
AA Change: A841V

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: A841V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000099955
Gene: ENSMUSG00000014852
AA Change: A841V

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alms1	A	G	6: 85,576,955 (GRCm39)		probably benign	Het
Arc	A	T	15: 74,543,833 (GRCm39)	L130Q	probably damaging	Het
Arhgap28	C	T	17: 68,175,951 (GRCm39)	V383I	probably damaging	Het
Atf6	T	C	1: 170,662,463 (GRCm39)	S266G	probably benign	Het
Cd59b	A	G	2: 103,914,905 (GRCm39)	E101G	probably benign	Het
Cdc26	T	C	4: 62,313,251 (GRCm39)	K30R	possibly damaging	Het
Clns1a	A	G	7: 97,360,937 (GRCm39)	D103G	probably null	Het
Crispld2	C	A	8: 120,757,837 (GRCm39)	A394E	possibly damaging	Het
Cyp51	A	T	5: 4,154,195 (GRCm39)	L38H	probably damaging	Het
Dnah7a	T	G	1: 53,725,773 (GRCm39)		probably benign	Het
Fbxw2	T	C	2: 34,712,675 (GRCm39)	R129G	probably damaging	Het
Fgd3	T	C	13: 49,439,294 (GRCm39)	Q234R	probably damaging	Het
Gdpgp1	A	G	7: 79,888,847 (GRCm39)	T293A	probably damaging	Het
Hspa12a	T	G	19: 58,810,493 (GRCm39)		probably null	Het
Ier5l	G	T	2: 30,363,067 (GRCm39)	D319E	possibly damaging	Het
Iigp1c	T	A	18: 60,379,143 (GRCm39)	I226N	probably damaging	Het
Ikzf1	T	C	11: 11,650,226 (GRCm39)	V3A	probably benign	Het
Itga2	T	C	13: 115,017,168 (GRCm39)	N180D	probably damaging	Het
Lipt1	T	C	1: 37,914,150 (GRCm39)	S69P	probably damaging	Het
Lvrn	A	G	18: 47,022,565 (GRCm39)	I734V	probably benign	Het
Man2c1	A	G	9: 57,049,114 (GRCm39)	T871A	probably benign	Het
Ndufs1	A	T	1: 63,203,896 (GRCm39)	C129S	probably damaging	Het
Neb	A	T	2: 52,180,831 (GRCm39)	F1232I	probably damaging	Het
Ngly1	T	A	14: 16,281,831 (GRCm38)	Y362*	probably null	Het
Or2h2c	A	T	17: 37,422,413 (GRCm39)	S154T	probably benign	Het
Or5ak23	A	T	2: 85,244,723 (GRCm39)	S167T	probably benign	Het
Patj	A	G	4: 98,353,377 (GRCm39)	D640G	probably null	Het
Plxnd1	A	T	6: 115,939,318 (GRCm39)	M1502K	probably damaging	Het
Sccpdh	T	C	1: 179,514,238 (GRCm39)	V429A	possibly damaging	Het
Slc25a48	T	C	13: 56,618,272 (GRCm39)	V303A	probably benign	Het
Sult2a6	T	C	7: 13,959,897 (GRCm39)	D212G	probably benign	Het
Tep1	A	T	14: 51,078,160 (GRCm39)		probably benign	Het
Tmem65	A	G	15: 58,656,751 (GRCm39)		probably benign	Het
Togaram2	T	C	17: 72,002,740 (GRCm39)		probably null	Het
Trim36	T	C	18: 46,300,575 (GRCm39)	T687A	probably benign	Het
Unc13b	T	A	4: 43,239,351 (GRCm39)	D3471E	probably damaging	Het
Urgcp	T	C	11: 5,667,238 (GRCm39)		probably null	Het
Zfhx4	A	T	3: 5,466,231 (GRCm39)	I2155F	probably damaging	Het
Zfp831	T	A	2: 174,487,059 (GRCm39)	V578E	probably benign	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
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
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

Posted On

2016-08-02