Mutagenetix > Incidental Mutation

Incidental Mutation 'R0276:Adamts13'

35346

Institutional Source

Beutler Lab

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

MMRRC Submission

038498-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

R0276 (G1)

Quality Score

223

Status

Validated

Chromosome

Chromosomal Location

26973416-27009628 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 26975760 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 109 (N109S)

Ref Sequence

ENSEMBL: ENSMUSP00000014996 (fasta)

Gene Model

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

AlphaFold

Q769J6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000014996
AA Change: N109S

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000014996
Gene: ENSMUSG00000014852
AA Change: N109S

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: N109S

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000099955
Gene: ENSMUSG00000014852
AA Change: N109S

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

0.2777

Coding Region Coverage

1x: 98.7%
3x: 97.8%
10x: 96.2%
20x: 93.8%

Validation Efficiency

98% (101/103)

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy10	T	A	1: 165,572,591 (GRCm38)	M1523K	possibly damaging	Het
Agtpbp1	C	T	13: 59,462,031 (GRCm38)	S1095N	possibly damaging	Het
Ang2	C	T	14: 51,195,518 (GRCm38)	V136I	probably damaging	Het
Arhgap10	A	T	8: 77,413,581 (GRCm38)	M250K	probably benign	Het
Arhgap33	A	T	7: 30,523,244 (GRCm38)	W1088R	probably benign	Het
Arhgef15	T	C	11: 68,953,472 (GRCm38)		probably benign	Het
Aspm	T	C	1: 139,478,471 (GRCm38)	S1699P	possibly damaging	Het
Atp12a	C	A	14: 56,387,694 (GRCm38)	D1014E	probably damaging	Het
Atp1a4	T	A	1: 172,257,901 (GRCm38)	K45M	probably damaging	Het
Atp8a1	A	T	5: 67,786,673 (GRCm38)		probably benign	Het
Baiap3	A	C	17: 25,243,687 (GRCm38)	F1099C	probably damaging	Het
Bcas3	T	A	11: 85,470,837 (GRCm38)		probably null	Het
Bms1	G	A	6: 118,408,134 (GRCm38)	T371M	possibly damaging	Het
Camta1	C	A	4: 151,075,140 (GRCm38)	R1614L	probably damaging	Het
Capn3	T	C	2: 120,488,065 (GRCm38)		probably benign	Het
Ccdc180	A	G	4: 45,923,534 (GRCm38)	D1105G	probably damaging	Het
Ccdc33	G	T	9: 58,058,392 (GRCm38)	P364Q	probably damaging	Het
Ccdc36	A	T	9: 108,428,440 (GRCm38)	M11K	possibly damaging	Het
Clstn3	A	G	6: 124,431,740 (GRCm38)		probably benign	Het
Cntrl	A	T	2: 35,151,732 (GRCm38)	Y619F	possibly damaging	Het
Col12a1	A	T	9: 79,630,741 (GRCm38)	Y2514*	probably null	Het
Cpt1b	T	C	15: 89,419,959 (GRCm38)	H503R	probably benign	Het
Crb1	T	A	1: 139,323,335 (GRCm38)	T293S	possibly damaging	Het
D130043K22Rik	C	T	13: 24,858,045 (GRCm38)	T319I	possibly damaging	Het
Dzip1l	G	A	9: 99,660,998 (GRCm38)	R502Q	probably benign	Het
Efcab5	G	A	11: 77,140,923 (GRCm38)	R42W	probably damaging	Het
Efcab5	A	G	11: 77,129,876 (GRCm38)	M673T	probably damaging	Het
F2rl3	A	G	8: 72,762,798 (GRCm38)	T218A	probably benign	Het
Fam135a	C	T	1: 24,067,964 (GRCm38)	R31H	probably damaging	Het
Fam84b	G	T	15: 60,823,674 (GRCm38)	Y74*	probably null	Het
Fcer2a	A	T	8: 3,689,811 (GRCm38)	N53K	possibly damaging	Het
Gm14085	T	A	2: 122,521,928 (GRCm38)	S389T	probably damaging	Het
Golgb1	A	C	16: 36,913,876 (GRCm38)	K1162Q	probably damaging	Het
Gpr137b	A	T	13: 13,367,575 (GRCm38)		probably benign	Het
Haspin	A	T	11: 73,136,487 (GRCm38)	L592Q	probably damaging	Het
Helq	A	G	5: 100,790,147 (GRCm38)	F478L	probably damaging	Het
Il17rb	T	A	14: 30,004,380 (GRCm38)	T84S	probably damaging	Het
Itga4	T	C	2: 79,321,493 (GRCm38)	L880P	probably damaging	Het
Itih5	A	G	2: 10,185,564 (GRCm38)	I61V	possibly damaging	Het
Ivl	G	A	3: 92,571,514 (GRCm38)	L415F	unknown	Het
Kif2a	A	G	13: 106,976,650 (GRCm38)		probably benign	Het
Kmt2d	T	C	15: 98,850,311 (GRCm38)		probably benign	Het
Lars2	A	G	9: 123,438,121 (GRCm38)		probably benign	Het
Lilrb4a	T	C	10: 51,491,581 (GRCm38)	V73A	probably benign	Het
Lrrc8a	A	G	2: 30,256,788 (GRCm38)	D538G	possibly damaging	Het
Lrrk1	G	A	7: 66,296,263 (GRCm38)		probably benign	Het
Mc2r	A	T	18: 68,408,132 (GRCm38)	I30K	possibly damaging	Het
Mybbp1a	C	A	11: 72,450,107 (GRCm38)		probably null	Het
Napg	C	T	18: 62,986,963 (GRCm38)	R149C	probably damaging	Het
Ncam2	A	G	16: 81,517,629 (GRCm38)		probably benign	Het
Nlk	T	C	11: 78,571,475 (GRCm38)	I509V	probably benign	Het
Nlrp2	A	T	7: 5,328,109 (GRCm38)	N429K	probably benign	Het
Nlrp9b	A	G	7: 20,028,498 (GRCm38)	T247A	probably benign	Het
Noxo1	A	T	17: 24,700,162 (GRCm38)		probably null	Het
Olfr1212	T	A	2: 88,958,755 (GRCm38)	C96*	probably null	Het
Olfr139	A	G	11: 74,045,118 (GRCm38)	I52T	probably damaging	Het
Olfr353	A	T	2: 36,890,023 (GRCm38)	M275K	probably benign	Het
Olfr701	A	T	7: 106,818,697 (GRCm38)	I205L	probably benign	Het
Olfr734	C	A	14: 50,320,179 (GRCm38)	A219S	probably benign	Het
Oxr1	T	C	15: 41,820,062 (GRCm38)	S294P	probably damaging	Het
Pfpl	A	G	19: 12,429,237 (GRCm38)	Y284C	probably damaging	Het
Pi16	A	T	17: 29,326,943 (GRCm38)	T232S	probably benign	Het
Plcxd2	A	T	16: 46,009,707 (GRCm38)	N50K	probably benign	Het
Plekhn1	T	A	4: 156,228,246 (GRCm38)	N52Y	probably damaging	Het
Prl2c5	T	C	13: 13,183,049 (GRCm38)		probably benign	Het
Prrc2b	G	A	2: 32,219,654 (GRCm38)	V1080I	probably damaging	Het
Psg28	A	T	7: 18,430,396 (GRCm38)	N130K	probably benign	Het
Psme4	C	A	11: 30,811,980 (GRCm38)	T440K	probably damaging	Het
Ptcd2	T	C	13: 99,321,596 (GRCm38)	K296E	probably benign	Het
Ptprq	T	C	10: 107,542,735 (GRCm38)		probably null	Het
Rab5b	A	C	10: 128,686,746 (GRCm38)		probably null	Het
Rft1	T	A	14: 30,690,583 (GRCm38)	S534T	probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,110,324 (GRCm38)		probably benign	Het
Rsu1	A	T	2: 13,170,135 (GRCm38)		probably benign	Het
Senp6	A	G	9: 80,136,747 (GRCm38)	M887V	probably benign	Het
Sgcz	T	A	8: 37,952,919 (GRCm38)	M60L	probably benign	Het
Siglec1	G	A	2: 131,083,941 (GRCm38)	Q282*	probably null	Het
Sipa1l2	T	C	8: 125,421,940 (GRCm38)	T1655A	probably damaging	Het
Slc43a3	G	A	2: 84,937,663 (GRCm38)		probably benign	Het
Snx29	T	C	16: 11,738,373 (GRCm38)	V756A	probably benign	Het
Spta1	T	A	1: 174,217,894 (GRCm38)	H1539Q	probably damaging	Het
Stk3	A	C	15: 35,099,469 (GRCm38)	S104A	probably damaging	Het
Stk38	C	A	17: 28,992,416 (GRCm38)		probably null	Het
Stx6	T	C	1: 155,174,163 (GRCm38)		probably benign	Het
Thbs4	G	A	13: 92,775,532 (GRCm38)	T230I	probably benign	Het
Thrsp	A	G	7: 97,417,502 (GRCm38)	M1T	probably null	Het
Tmem63b	A	T	17: 45,675,373 (GRCm38)		probably benign	Het
Top2a	A	G	11: 99,009,907 (GRCm38)		probably benign	Het
Tpd52l2	T	C	2: 181,502,059 (GRCm38)		probably null	Het
Trak1	A	G	9: 121,454,338 (GRCm38)	E390G	probably damaging	Het
Trappc3	T	A	4: 126,273,952 (GRCm38)	D101E	possibly damaging	Het
Trhr	A	G	15: 44,197,086 (GRCm38)	M1V	probably null	Het
Triobp	T	A	15: 78,973,676 (GRCm38)	I1159K	probably benign	Het
Unc45a	A	G	7: 80,326,297 (GRCm38)		probably benign	Het
Usb1	A	G	8: 95,333,457 (GRCm38)	D12G	probably damaging	Het
Ushbp1	C	T	8: 71,394,649 (GRCm38)	C113Y	possibly damaging	Het
Vim	A	G	2: 13,574,859 (GRCm38)	K143R	probably benign	Het
Vmn2r75	T	C	7: 86,148,307 (GRCm38)	K766R	probably benign	Het
Wdr92	T	C	11: 17,229,821 (GRCm38)	I274T	probably benign	Het
Xpo5	T	G	17: 46,241,507 (GRCm38)	C1089G	probably 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
IGL01924:Adamts13	APN	2	26,996,583 (GRCm38)	missense	possibly damaging	0.80
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
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

Predicted Primers

PCR Primer
(F):5'- ACCTGCTTTCCAGCCTGAACTG -3'
(R):5'- ACTCACCGTGCTCAAATGTACTGAC -3'

Sequencing Primer
(F):5'- CGACATGAAATCAGCCTTTTGAC -3'
(R):5'- GCTCAAATGTACTGACTTGTGACC -3'

Posted On

2013-05-09