Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00160:Adamts3'

1646

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Adamts3

Ensembl Gene

ENSMUSG00000043635

Gene Name

ADAM metallopeptidase with thrombospondin type 1 motif 3

Synonyms

1100001H14Rik, 6330442E02Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00160

Quality Score

Status

Chromosome

Chromosomal Location

89824946-90031193 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 90009184 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 160 (V160I)

Ref Sequence

ENSEMBL: ENSMUSP00000142771 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061427] [ENSMUST00000163159] [ENSMUST00000198151]

AlphaFold

E9Q287

Predicted Effect

probably damaging
Transcript: ENSMUST00000061427
AA Change: V160I

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000058552
Gene: ENSMUSG00000043635
AA Change: V160I

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:Pep_M12B_propep	42	201	5.1e-40	PFAM
Pfam:Reprolysin_5	254	439	5.4e-15	PFAM
Pfam:Reprolysin_4	256	454	1.9e-10	PFAM
Pfam:Reprolysin	257	460	3.6e-22	PFAM
Pfam:Reprolysin_2	274	451	7.7e-13	PFAM
Pfam:Reprolysin_3	278	409	1.5e-12	PFAM
TSP1	554	606	1.26e-15	SMART
Pfam:ADAM_spacer1	713	827	3e-34	PFAM
TSP1	848	905	4.35e-2	SMART
TSP1	908	967	4.95e-2	SMART
TSP1	969	1016	6.58e-5	SMART
low complexity region	1114	1128	N/A	INTRINSIC
low complexity region	1157	1177	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000163159
AA Change: V160I

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000132219
Gene: ENSMUSG00000043635
AA Change: V160I

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:Pep_M12B_propep	43	201	1.5e-40	PFAM
Pfam:Reprolysin_5	254	439	2.2e-15	PFAM
Pfam:Reprolysin_4	256	454	7.7e-11	PFAM
Pfam:Reprolysin	257	460	3.7e-21	PFAM
Pfam:Reprolysin_2	274	451	4.3e-14	PFAM
Pfam:Reprolysin_3	278	409	1.3e-12	PFAM
TSP1	554	606	1.26e-15	SMART
Pfam:ADAM_spacer1	713	828	3.6e-28	PFAM
TSP1	849	906	4.35e-2	SMART
TSP1	909	968	4.95e-2	SMART
TSP1	970	1017	6.58e-5	SMART
low complexity region	1115	1129	N/A	INTRINSIC
low complexity region	1158	1178	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196507

Predicted Effect

probably damaging
Transcript: ENSMUST00000198151
AA Change: V160I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000142771
Gene: ENSMUSG00000043635
AA Change: V160I

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:Pep_M12B_propep	42	174	2.3e-29	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature protease. This protease, a member of the procollagen aminopropeptidase subfamily of proteins, may play a role in the processing of type II fibrillar collagen in articular cartilage. [provided by RefSeq, Feb 2016]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	C	T	2: 68,563,219 (GRCm39)	A387V	probably benign	Het
Arhgef26	T	C	3: 62,247,804 (GRCm39)	V296A	probably benign	Het
Bdp1	A	T	13: 100,197,706 (GRCm39)	M893K	probably benign	Het
Camk2d	T	A	3: 126,631,921 (GRCm39)	C407*	probably null	Het
Ces1h	T	C	8: 94,084,091 (GRCm39)	D373G	probably benign	Het
Ces2f	A	T	8: 105,676,605 (GRCm39)	N100Y	probably damaging	Het
Ces2f	A	T	8: 105,676,604 (GRCm39)	Q99H	probably damaging	Het
Dlg5	T	C	14: 24,241,229 (GRCm39)	T223A	probably damaging	Het
Dnai7	T	A	6: 145,121,016 (GRCm39)	H601L	probably benign	Het
Dnmt3l	A	G	10: 77,893,189 (GRCm39)	D322G	probably damaging	Het
Fam243	T	C	16: 92,117,890 (GRCm39)	K133E	possibly damaging	Het
Fbxl20	C	T	11: 97,981,500 (GRCm39)	G396D	possibly damaging	Het
Garre1	G	A	7: 33,938,431 (GRCm39)	H1035Y	possibly damaging	Het
Gldc	T	C	19: 30,092,640 (GRCm39)	T760A	probably damaging	Het
Gm6483	T	A	8: 19,741,663 (GRCm39)		noncoding transcript	Het
Hcrtr2	A	T	9: 76,135,437 (GRCm39)	V460D	possibly damaging	Het
Kif14	G	A	1: 136,396,756 (GRCm39)	S354N	probably benign	Het
Men1	G	A	19: 6,387,237 (GRCm39)		probably null	Het
Mrgpra2a	A	T	7: 47,076,286 (GRCm39)	M324K	probably damaging	Het
N4bp3	C	T	11: 51,536,143 (GRCm39)	A230T	probably benign	Het
Nphs1	T	G	7: 30,181,976 (GRCm39)	W1204G	possibly damaging	Het
Obscn	C	A	11: 58,892,883 (GRCm39)	A6788S	probably benign	Het
Ofcc1	T	C	13: 40,296,280 (GRCm39)	D518G	probably damaging	Het
Optc	T	C	1: 133,829,846 (GRCm39)	Y188C	probably damaging	Het
Prss45	C	A	9: 110,670,073 (GRCm39)	A285E	probably damaging	Het
Rcan2	C	T	17: 44,347,960 (GRCm39)	T223I	possibly damaging	Het
Snrnp70	A	G	7: 45,026,778 (GRCm39)		probably null	Het
Sorbs1	T	A	19: 40,306,473 (GRCm39)	T1064S	probably damaging	Het
Sptb	T	C	12: 76,669,943 (GRCm39)	K462E	probably damaging	Het
Sstr1	A	G	12: 58,259,536 (GRCm39)	E53G	probably benign	Het
Stxbp2	A	T	8: 3,686,354 (GRCm39)		probably null	Het
Tex35	G	A	1: 156,927,326 (GRCm39)		probably benign	Het
Thnsl1	T	C	2: 21,217,260 (GRCm39)	F338S	possibly damaging	Het
Trpv1	C	T	11: 73,151,188 (GRCm39)	A424V	probably damaging	Het
Unc80	A	T	1: 66,693,554 (GRCm39)	H2535L	possibly damaging	Het
Usp46	T	C	5: 74,163,347 (GRCm39)	E333G	probably null	Het
Vmn1r27	T	C	6: 58,192,119 (GRCm39)	Y245C	probably benign	Het
Zfp488	T	C	14: 33,693,026 (GRCm39)	M46V	probably benign	Het
Zfp566	G	T	7: 29,777,936 (GRCm39)	Q82K	probably benign	Het
Znhit6	T	C	3: 145,283,915 (GRCm39)	S62P	probably damaging	Het
Znrf3	T	C	11: 5,239,039 (GRCm39)	H108R	probably damaging	Het

Other mutations in Adamts3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00340:Adamts3	APN	5	89,849,525 (GRCm39)	missense	probably damaging	1.00
IGL00923:Adamts3	APN	5	89,832,235 (GRCm39)	missense	probably benign	0.06
IGL01420:Adamts3	APN	5	89,850,916 (GRCm39)	missense	possibly damaging	0.57
IGL01522:Adamts3	APN	5	89,850,802 (GRCm39)	missense	probably benign	0.14
IGL01676:Adamts3	APN	5	90,029,402 (GRCm39)	missense	possibly damaging	0.54
IGL01676:Adamts3	APN	5	89,825,613 (GRCm39)	missense	probably benign	0.00
IGL01678:Adamts3	APN	5	89,855,715 (GRCm39)	missense	probably damaging	1.00
IGL01936:Adamts3	APN	5	90,009,282 (GRCm39)	missense	probably benign	0.00
IGL01956:Adamts3	APN	5	89,825,770 (GRCm39)	missense	probably damaging	0.99
IGL02342:Adamts3	APN	5	89,839,332 (GRCm39)	splice site	probably null
IGL02415:Adamts3	APN	5	89,854,506 (GRCm39)	splice site	probably null
IGL03261:Adamts3	APN	5	90,030,756 (GRCm39)	utr 5 prime	probably benign
IGL03301:Adamts3	APN	5	89,855,263 (GRCm39)	missense	probably damaging	1.00
R0041:Adamts3	UTSW	5	89,832,326 (GRCm39)	missense	probably benign
R0079:Adamts3	UTSW	5	89,840,912 (GRCm39)	missense	probably benign	0.00
R0096:Adamts3	UTSW	5	89,849,576 (GRCm39)	nonsense	probably null
R0096:Adamts3	UTSW	5	89,849,576 (GRCm39)	nonsense	probably null
R0477:Adamts3	UTSW	5	89,832,366 (GRCm39)	missense	probably benign
R0605:Adamts3	UTSW	5	90,009,334 (GRCm39)	missense	possibly damaging	0.96
R1036:Adamts3	UTSW	5	89,843,952 (GRCm39)	splice site	probably benign
R1462:Adamts3	UTSW	5	90,009,208 (GRCm39)	missense	probably benign	0.17
R1462:Adamts3	UTSW	5	90,009,208 (GRCm39)	missense	probably benign	0.17
R1621:Adamts3	UTSW	5	89,869,560 (GRCm39)	missense	probably damaging	1.00
R1799:Adamts3	UTSW	5	89,923,280 (GRCm39)	missense	probably benign	0.00
R2163:Adamts3	UTSW	5	89,856,577 (GRCm39)	missense	probably damaging	0.99
R2412:Adamts3	UTSW	5	89,849,630 (GRCm39)	missense	probably damaging	0.99
R2420:Adamts3	UTSW	5	89,831,034 (GRCm39)	missense	probably damaging	0.97
R2421:Adamts3	UTSW	5	89,831,034 (GRCm39)	missense	probably damaging	0.97
R2422:Adamts3	UTSW	5	89,831,034 (GRCm39)	missense	probably damaging	0.97
R2921:Adamts3	UTSW	5	90,009,393 (GRCm39)	missense	possibly damaging	0.90
R2922:Adamts3	UTSW	5	90,009,393 (GRCm39)	missense	possibly damaging	0.90
R2923:Adamts3	UTSW	5	90,009,393 (GRCm39)	missense	possibly damaging	0.90
R3402:Adamts3	UTSW	5	89,849,592 (GRCm39)	missense	probably benign	0.04
R3431:Adamts3	UTSW	5	89,855,312 (GRCm39)	splice site	probably benign
R3432:Adamts3	UTSW	5	89,855,312 (GRCm39)	splice site	probably benign
R3813:Adamts3	UTSW	5	89,825,785 (GRCm39)	missense	possibly damaging	0.67
R3816:Adamts3	UTSW	5	89,853,123 (GRCm39)	missense	probably damaging	0.99
R3905:Adamts3	UTSW	5	90,009,214 (GRCm39)	missense	probably damaging	1.00
R3906:Adamts3	UTSW	5	90,009,214 (GRCm39)	missense	probably damaging	1.00
R3907:Adamts3	UTSW	5	90,009,214 (GRCm39)	missense	probably damaging	1.00
R3908:Adamts3	UTSW	5	90,009,214 (GRCm39)	missense	probably damaging	1.00
R4557:Adamts3	UTSW	5	89,848,346 (GRCm39)	missense	probably benign	0.03
R4684:Adamts3	UTSW	5	89,850,866 (GRCm39)	missense	probably damaging	0.98
R4844:Adamts3	UTSW	5	89,825,675 (GRCm39)	missense	probably damaging	0.99
R4925:Adamts3	UTSW	5	89,832,182 (GRCm39)	missense	probably benign	0.01
R5097:Adamts3	UTSW	5	89,840,909 (GRCm39)	missense	probably damaging	0.97
R5100:Adamts3	UTSW	5	89,856,502 (GRCm39)	missense	probably damaging	1.00
R5237:Adamts3	UTSW	5	89,923,236 (GRCm39)	missense	probably benign
R5265:Adamts3	UTSW	5	90,009,411 (GRCm39)	missense	possibly damaging	0.91
R5322:Adamts3	UTSW	5	89,855,159 (GRCm39)	splice site	probably null
R5413:Adamts3	UTSW	5	89,856,626 (GRCm39)	missense	probably damaging	1.00
R5459:Adamts3	UTSW	5	89,839,332 (GRCm39)	splice site	probably null
R5738:Adamts3	UTSW	5	89,856,527 (GRCm39)	missense	probably damaging	1.00
R5979:Adamts3	UTSW	5	90,009,528 (GRCm39)	missense	probably damaging	0.96
R5992:Adamts3	UTSW	5	89,839,194 (GRCm39)	missense	probably damaging	1.00
R6364:Adamts3	UTSW	5	89,869,673 (GRCm39)	missense	possibly damaging	0.92
R6572:Adamts3	UTSW	5	90,009,468 (GRCm39)	missense	possibly damaging	0.87
R7098:Adamts3	UTSW	5	90,009,354 (GRCm39)	missense	probably damaging	1.00
R7172:Adamts3	UTSW	5	90,030,860 (GRCm39)	start gained	probably benign
R7263:Adamts3	UTSW	5	89,825,601 (GRCm39)	missense	probably benign	0.03
R7401:Adamts3	UTSW	5	89,855,309 (GRCm39)	critical splice acceptor site	probably null
R7599:Adamts3	UTSW	5	90,009,256 (GRCm39)	missense	probably benign	0.00
R7829:Adamts3	UTSW	5	90,009,349 (GRCm39)	missense	probably damaging	1.00
R7835:Adamts3	UTSW	5	89,848,299 (GRCm39)	missense	possibly damaging	0.70
R7892:Adamts3	UTSW	5	90,009,288 (GRCm39)	missense	probably benign	0.10
R8021:Adamts3	UTSW	5	89,831,043 (GRCm39)	missense	possibly damaging	0.47
R8289:Adamts3	UTSW	5	89,923,282 (GRCm39)	missense	possibly damaging	0.89
R8350:Adamts3	UTSW	5	89,850,815 (GRCm39)	missense	probably damaging	1.00
R8468:Adamts3	UTSW	5	89,842,627 (GRCm39)	missense	probably benign	0.19
R8827:Adamts3	UTSW	5	89,839,324 (GRCm39)	missense	probably benign	0.03
R8864:Adamts3	UTSW	5	89,854,981 (GRCm39)	intron	probably benign
R8906:Adamts3	UTSW	5	89,825,575 (GRCm39)	missense	probably damaging	0.98
R9000:Adamts3	UTSW	5	89,854,570 (GRCm39)	missense	probably benign	0.17
R9005:Adamts3	UTSW	5	89,825,693 (GRCm39)	missense	probably benign	0.08
R9378:Adamts3	UTSW	5	89,848,269 (GRCm39)	nonsense	probably null
R9505:Adamts3	UTSW	5	89,855,751 (GRCm39)	missense	probably damaging	1.00
R9516:Adamts3	UTSW	5	89,834,750 (GRCm39)	missense	probably damaging	1.00
X0064:Adamts3	UTSW	5	89,850,901 (GRCm39)	missense	possibly damaging	0.75
Z1088:Adamts3	UTSW	5	89,832,308 (GRCm39)	missense	probably damaging	0.99
Z1176:Adamts3	UTSW	5	89,923,210 (GRCm39)	missense	not run
Z1177:Adamts3	UTSW	5	89,923,210 (GRCm39)	missense	not run
Z1177:Adamts3	UTSW	5	89,855,723 (GRCm39)	nonsense	probably null

Posted On

2011-07-12