Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01114:Adamts13'

50550

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 #

IGL01114

Quality Score

Status

Chromosome

Chromosomal Location

26863428-26899640 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 26895202 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 1098 (I1098V)

Ref Sequence

ENSEMBL: ENSMUSP00000099955 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102891] [ENSMUST00000114004] [ENSMUST00000114005] [ENSMUST00000114006] [ENSMUST00000114007]

AlphaFold

Q769J6

Predicted Effect

probably benign
Transcript: ENSMUST00000102891
AA Change: I1098V

PolyPhen 2 Score 0.411 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000099955
Gene: ENSMUSG00000014852
AA Change: I1098V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000114004

SMART Domains

Protein: ENSMUSP00000109637
Gene: ENSMUSG00000015488

Domain	Start	End	E-Value	Type
low complexity region	5	17	N/A	INTRINSIC
Cg6151-P	33	106	7.88e-18	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000114005

SMART Domains

Protein: ENSMUSP00000109638
Gene: ENSMUSG00000015488

Domain	Start	End	E-Value	Type
low complexity region	5	17	N/A	INTRINSIC
Cg6151-P	33	114	5.53e-22	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000114006

SMART Domains

Protein: ENSMUSP00000109639
Gene: ENSMUSG00000015488

Domain	Start	End	E-Value	Type
low complexity region	5	17	N/A	INTRINSIC
Cg6151-P	33	142	2.87e-61	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000114007

SMART Domains

Protein: ENSMUSP00000109640
Gene: ENSMUSG00000015488

Domain	Start	End	E-Value	Type
low complexity region	5	17	N/A	INTRINSIC
Cg6151-P	33	142	2.87e-61	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133126

Predicted Effect

probably benign
Transcript: ENSMUST00000133807

SMART Domains

Protein: ENSMUSP00000122562
Gene: ENSMUSG00000015488

Domain	Start	End	E-Value	Type
low complexity region	29	42	N/A	INTRINSIC
Cg6151-P	53	118	8.02e-10	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147216

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700101I19Rik	T	C	1: 34,618,370 (GRCm39)		probably benign	Het
Abca15	T	G	7: 119,960,643 (GRCm39)	Y702D	probably damaging	Het
Abcc8	T	C	7: 45,754,088 (GRCm39)	K1576R	probably benign	Het
Acot12	T	A	13: 91,905,711 (GRCm39)		probably benign	Het
Adcy6	C	T	15: 98,496,857 (GRCm39)	V471M	probably damaging	Het
Ccdc170	C	A	10: 4,508,550 (GRCm39)	D591E	probably benign	Het
Corin	A	C	5: 72,462,354 (GRCm39)	D826E	probably damaging	Het
Cpsf2	T	G	12: 101,956,098 (GRCm39)	N300K	possibly damaging	Het
Csmd2	C	T	4: 128,262,923 (GRCm39)	T703I	probably benign	Het
D130043K22Rik	T	A	13: 25,041,139 (GRCm39)	L187Q	probably damaging	Het
D430041D05Rik	G	T	2: 104,088,511 (GRCm39)	S155*	probably null	Het
Dmrtc2	C	T	7: 24,572,001 (GRCm39)	P32L	probably damaging	Het
Dsel	G	A	1: 111,787,791 (GRCm39)	R915*	probably null	Het
Fam124b	T	C	1: 80,190,852 (GRCm39)	Y177C	possibly damaging	Het
Fam171b	G	A	2: 83,707,072 (GRCm39)	W314*	probably null	Het
Gpn1	G	T	5: 31,655,745 (GRCm39)	D103Y	probably damaging	Het
Gpr89	A	T	3: 96,800,865 (GRCm39)	F88I	probably damaging	Het
Ifi27l2a	T	C	12: 103,403,792 (GRCm39)		probably benign	Het
Kdm4d	A	G	9: 14,375,493 (GRCm39)	Y122H	probably damaging	Het
Oas1d	G	A	5: 121,054,907 (GRCm39)	V160I	probably benign	Het
Or5b108	A	G	19: 13,168,598 (GRCm39)	D189G	possibly damaging	Het
Or7e170	A	T	9: 19,794,844 (GRCm39)	Y252*	probably null	Het
Poglut3	T	C	9: 53,299,879 (GRCm39)		probably null	Het
Rrp1b	C	T	17: 32,271,793 (GRCm39)	P288S	probably benign	Het
Sin3b	A	G	8: 73,471,133 (GRCm39)	K360R	probably benign	Het
Sympk	A	G	7: 18,781,498 (GRCm39)	D818G	probably benign	Het
Tecpr2	A	G	12: 110,934,213 (GRCm39)	D1291G	possibly damaging	Het
Tep1	C	T	14: 51,088,096 (GRCm39)	V814M	probably damaging	Het
Tpsg1	T	C	17: 25,592,196 (GRCm39)	V17A	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
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
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

2013-06-21