Mutagenetix > Incidental Mutations

Incidental Mutation 'R7583:Adamts13'

586848

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

Accession Numbers

NCBI RefSeq: NM_001001322.2; MGI:2685556

Is this an essential gene?

Probably non essential (E-score: 0.139) question?

Stock #

R7583 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

26973416-27009628 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 26973953 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 48 (K48E)

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: K48E

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

SMART Domains

Protein: ENSMUSP00000014996
Gene: ENSMUSG00000014852
AA Change: K48E

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: K48E

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

SMART Domains

Protein: ENSMUSP00000099955
Gene: ENSMUSG00000014852
AA Change: K48E

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

99% (95/96)

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	A	T	2: 68,739,326	D462V	probably damaging	Het
Abcc1	T	C	16: 14,404,038	W222R	probably damaging	Het
Adgrd1	A	C	5: 129,179,588	T674P	probably benign	Het
Agbl4	A	T	4: 111,118,953	Y169F	possibly damaging	Het
Ahnak	T	A	19: 9,006,093	N1580K	possibly damaging	Het
Angptl8	A	C	9: 21,835,914		probably null	Het
Ap3d1	G	A	10: 80,709,458	T1053I	probably benign	Het
Atad2	T	C	15: 58,126,664	T139A	probably benign	Het
Bdp1	T	A	13: 100,049,812	T1711S	probably damaging	Het
Bod1l	T	C	5: 41,833,790	I141V	probably damaging	Het
Cavin2	A	T	1: 51,289,618	N78I	possibly damaging	Het
Ccnb1	T	C	13: 100,779,754	H406R	probably benign	Het
Cd200r4	A	G	16: 44,833,421	T194A	probably damaging	Het
Cdt1	G	A	8: 122,570,256	R263H	probably damaging	Het
Cep85l	A	T	10: 53,281,354	I751N	probably damaging	Het
Clasp2	A	G	9: 113,908,687	D1043G	probably benign	Het
Cmip	A	T	8: 117,454,952	N578I	probably damaging	Het
Col2a1	T	G	15: 97,976,184	K1440N	unknown	Het
Cpne2	A	T	8: 94,555,581	M252L	probably benign	Het
Crb2	A	G	2: 37,790,595	T512A	probably benign	Het
Csmd1	A	G	8: 15,998,833	Y2290H	probably damaging	Het
Ctnnd1	A	T	2: 84,612,061	D642E	probably damaging	Het
Ctns	A	G	11: 73,188,470	S141P	probably benign	Het
Cwh43	A	G	5: 73,434,289	Q575R	probably benign	Het
Cyp2b19	C	A	7: 26,759,064	T68K	probably damaging	Het
Dcaf6	A	G	1: 165,333,310	S849P	probably damaging	Het
Dnm3	T	A	1: 162,477,774	Q17L	possibly damaging	Het
Enpp3	A	T	10: 24,836,092	M1K	probably null	Het
Fam124a	T	A	14: 62,606,559	C505*	probably null	Het
Fam160b1	T	A	19: 57,378,602	D192E	probably benign	Het
Fsip2	A	G	2: 82,975,241	I635V	probably benign	Het
Gm5878	A	T	6: 85,118,700		probably null	Het
Gm6205	A	T	5: 94,682,894	T84S	possibly damaging	Het
Gpld1	C	A	13: 24,975,760	A437D	probably damaging	Het
Grk5	G	T	19: 61,083,204	V401L	possibly damaging	Het
Gucy2g	A	T	19: 55,235,615	L259Q	probably damaging	Het
Habp2	T	A	19: 56,311,804	D191E	probably benign	Het
Helz2	T	A	2: 181,237,572	H751L	probably benign	Het
Hgsnat	A	G	8: 25,971,564		probably null	Het
Hivep1	T	A	13: 42,164,240	V2064E	probably damaging	Het
Ikbke	C	T	1: 131,276,479	A26T	probably damaging	Het
Ivd	C	A	2: 118,862,131	D37E	probably damaging	Het
Kif26b	G	A	1: 178,530,445	W40*	probably null	Het
Klrc2	A	G	6: 129,659,311	S114P	probably damaging	Het
Lama1	A	T	17: 67,761,621	T772S		Het
Lamc1	T	A	1: 153,243,232	K880N	possibly damaging	Het
Lmf1	G	A	17: 25,655,449	D12N		Het
Lpin2	G	T	17: 71,231,396	E384*	probably null	Het
Lrrc23	T	C	6: 124,779,578		probably benign	Het
Lrrc31	T	C	3: 30,691,099		probably null	Het
Luc7l2	A	G	6: 38,551,885	Q13R	probably damaging	Het
Ly6c1	G	T	15: 75,048,497	H5Q	probably damaging	Het
Lyst	A	T	13: 13,635,887	H714L	probably damaging	Het
Man2a2	C	T	7: 80,366,944	R374H	probably damaging	Het
Mchr1	A	T	15: 81,237,441	T131S	probably benign	Het
Msto1	T	C	3: 88,912,929		probably null	Het
Myh1	C	T	11: 67,220,913	T1698I	probably benign	Het
Ncapd3	G	T	9: 27,071,848	C964F	probably damaging	Het
Nefh	T	C	11: 4,941,089	E510G	probably damaging	Het
Olfr1246	A	T	2: 89,590,751	Y121*	probably null	Het
Olfr1513	T	C	14: 52,349,903	T48A	possibly damaging	Het
Olfr357	A	C	2: 36,997,080	K90T	probably damaging	Het
Olfr362	A	T	2: 37,105,527	L41*	probably null	Het
Olfr538	A	G	7: 140,574,210	E19G	probably benign	Het
P4ha1	T	A	10: 59,369,640	S497R	probably benign	Het
Palb2	T	C	7: 122,127,342	D435G	probably benign	Het
Papola	C	T	12: 105,811,045	P282L	probably damaging	Het
Pcdhgb1	A	G	18: 37,682,324	R623G	probably damaging	Het
Pcolce	T	G	5: 137,607,445	K229Q	probably benign	Het
Pkhd1l1	T	C	15: 44,568,364		probably null	Het
Ppp6r3	T	A	19: 3,490,790	T443S	probably benign	Het
Psg20	T	A	7: 18,682,483	D236V	probably damaging	Het
Ptgr2	T	G	12: 84,308,405	S304R	probably damaging	Het
Ptpn22	A	T	3: 103,902,114	D681V	probably benign	Het
Rab3gap1	T	C	1: 127,930,875	S574P	probably benign	Het
Slc36a1	A	G	11: 55,213,928		probably null	Het
Slc9a5	A	G	8: 105,363,272	S621G	possibly damaging	Het
Sntg1	A	G	1: 8,445,025		probably null	Het
Snx17	A	G	5: 31,196,533	N222D	possibly damaging	Het
Spata19	G	T	9: 27,400,433	S116I	possibly damaging	Het
Spn	G	A	7: 127,137,062	A91V	probably damaging	Het
Srrm3	T	C	5: 135,852,281	V145A	probably benign	Het
St7	A	T	6: 17,942,754	T575S	possibly damaging	Het
Taf2	A	T	15: 55,064,676	Y110*	probably null	Het
Tcf20	T	C	15: 82,855,276	E658G	possibly damaging	Het
Tdrd6	G	T	17: 43,624,238	A1973E	probably benign	Het
Tg	T	G	15: 66,764,418	L2237W	probably damaging	Het
Ticrr	C	A	7: 79,696,739	Y1882*	probably null	Het
Trim45	T	A	3: 100,925,023	C191S	probably damaging	Het
Upf3a	G	A	8: 13,785,889		probably null	Het
Vmn2r42	A	T	7: 8,194,741	L293*	probably null	Het
Vmn2r62	T	A	7: 42,788,042	Q339H	possibly damaging	Het
Wdr24	A	T	17: 25,825,830	R220W	probably null	Het
Wdr5	T	A	2: 27,518,775	S22T	probably benign	Het
Zfp37	G	A	4: 62,192,016		probably benign	Het
Zfp735	A	T	11: 73,711,107	L292F	possibly damaging	Het
Zfp985	T	A	4: 147,583,489	C271*	probably null	Het
Zranb1	G	A	7: 132,983,896	R691Q	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
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
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

Predicted Primers

PCR Primer
(F):5'- TTGCAATCACTTGGGAGAGGG -3'
(R):5'- GAGACTAGCTTCTCTGACTTCC -3'

Sequencing Primer
(F):5'- GGAGGAAATTCGTTTACTCTGGTAAC -3'
(R):5'- CCTCCTTCTATGACTGAGAGAAC -3'

Posted On

2019-10-24