Mutagenetix > Incidental Mutation

Incidental Mutation 'R2409:Adamts13'

248116

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

040375-MU

Accession Numbers

Essential gene?

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

Stock #

R2409 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

26863428-26899640 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 26868374 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 162 (T162A)

Ref Sequence

ENSEMBL: ENSMUSP00000099955 (fasta)

Gene Model

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

AlphaFold

Q769J6

Predicted Effect

probably benign
Transcript: ENSMUST00000014996
AA Change: T162A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000014996
Gene: ENSMUSG00000014852
AA Change: T162A

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: T162A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000099955
Gene: ENSMUSG00000014852
AA Change: T162A

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

0.1381

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.9%
20x: 94.0%

Validation Efficiency

100% (32/32)

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	C	T	5: 8,788,747 (GRCm39)	T1042I	probably benign	Het
Adamts7	T	A	9: 90,062,740 (GRCm39)	I398N	probably damaging	Het
Cib2	A	G	9: 54,452,751 (GRCm39)		probably null	Het
Cyp3a16	T	C	5: 145,377,177 (GRCm39)	K470R	probably benign	Het
Dpy19l2	A	G	9: 24,569,924 (GRCm39)	M343T	probably benign	Het
Dyrk2	A	G	10: 118,696,532 (GRCm39)	V242A	probably benign	Het
Extl3	T	C	14: 65,315,017 (GRCm39)	D55G	probably benign	Het
Fabp7	A	G	10: 57,661,772 (GRCm39)	K82E	possibly damaging	Het
Fat1	G	T	8: 45,493,567 (GRCm39)		probably benign	Het
Gen1	A	G	12: 11,299,165 (GRCm39)	I280T	possibly damaging	Het
Gm5117	T	C	8: 32,227,306 (GRCm39)		noncoding transcript	Het
Gucy1b2	CCGTGTTT	C	14: 62,643,628 (GRCm39)		probably null	Het
Il3ra	G	A	14: 14,349,377 (GRCm38)		probably null	Het
Myo1f	A	G	17: 33,795,641 (GRCm39)	N66D	probably damaging	Het
Nfkb1	C	T	3: 135,319,704 (GRCm39)	E264K	possibly damaging	Het
Nsf	C	T	11: 103,821,578 (GRCm39)	E26K	possibly damaging	Het
Or7d10	G	T	9: 19,832,072 (GRCm39)	R189L	probably benign	Het
Or7d10	G	C	9: 19,832,077 (GRCm39)	D191H	probably damaging	Het
Prdm10	A	G	9: 31,260,418 (GRCm39)	H624R	possibly damaging	Het
Rgs5	G	T	1: 169,504,451 (GRCm39)	V34F	possibly damaging	Het
Sec14l4	T	C	11: 3,990,048 (GRCm39)	S116P	probably benign	Het
Septin1	T	C	7: 126,815,143 (GRCm39)		probably null	Het
Septin9	T	A	11: 117,251,287 (GRCm39)	I535N	probably damaging	Het
Sh2b1	C	T	7: 126,070,651 (GRCm39)	G350D	probably damaging	Het
Slc6a21	T	C	7: 44,929,750 (GRCm39)	V107A	probably benign	Het
Trim26	C	A	17: 37,161,895 (GRCm39)	H105N	probably damaging	Het
Trim71	A	T	9: 114,342,781 (GRCm39)	D500E	possibly damaging	Het
Vmn2r78	T	A	7: 86,569,953 (GRCm39)		probably benign	Het
Vmn2r84	A	G	10: 130,227,940 (GRCm39)	S99P	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
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

Predicted Primers

PCR Primer
(F):5'- TCCTGCAGAACTGGTAAAGACTG -3'
(R):5'- ATCACAAGGACAGTGGCACC -3'

Sequencing Primer
(F):5'- CAGTTTCTCCATCTGTAAAGCGGG -3'
(R):5'- TATGGGAACCTCGGATAC -3'

Posted On

2014-11-11