Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02342:Adamts3'

289168

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Adamts3

Ensembl Gene

ENSMUSG00000043635

Gene Name

a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 3

Synonyms

6330442E02Rik, 1100001H14Rik

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02342

Quality Score

Status

Chromosome

Chromosomal Location

89677087-89883334 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 89691473 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000132219 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000061427

SMART Domains

Protein: ENSMUSP00000058552
Gene: ENSMUSG00000043635

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 null
Transcript: ENSMUST00000163159

SMART Domains

Protein: ENSMUSP00000132219
Gene: ENSMUSG00000043635

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

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9030612E09Rik	C	A	10: 43,175,001	P97Q	probably damaging	Het
Abcb10	A	T	8: 123,962,034	V501E	probably damaging	Het
Acsf3	T	C	8: 122,817,498	Y572H	probably benign	Het
Alox8	A	G	11: 69,186,227	L480P	probably damaging	Het
Arhgap35	G	A	7: 16,562,380	T920I	probably benign	Het
Brca2	C	A	5: 150,542,824	L2018M	possibly damaging	Het
Brdt	C	A	5: 107,342,203	H45N	probably damaging	Het
C1s2	A	G	6: 124,632,116	F155L	probably damaging	Het
Ccser2	A	G	14: 36,918,605		probably benign	Het
Cd8a	T	A	6: 71,373,739	C63S	probably damaging	Het
Clk2	A	T	3: 89,175,691	T424S	probably benign	Het
Cntn1	A	G	15: 92,246,017	E287G	probably benign	Het
Cobl	A	C	11: 12,253,672	V928G	possibly damaging	Het
Col12a1	A	G	9: 79,649,896		probably null	Het
Crnkl1	A	T	2: 145,924,713		probably null	Het
Defb26	T	C	2: 152,508,201	N53S	possibly damaging	Het
Duox1	A	T	2: 122,347,312	T1526S	probably damaging	Het
Dync2h1	A	G	9: 7,142,246	L1233P	probably damaging	Het
Eif5a2	A	G	3: 28,793,761	E116G	possibly damaging	Het
Fam208a	T	A	14: 27,476,667	S1319T	possibly damaging	Het
Fam71f1	A	G	6: 29,323,830	T185A	possibly damaging	Het
Gdap2	G	A	3: 100,178,316	A185T	probably damaging	Het
Grm8	T	C	6: 27,363,804	R571G	probably benign	Het
Hfe2	G	A	3: 96,528,172	D249N	possibly damaging	Het
Hsp90b1	T	C	10: 86,695,739		probably null	Het
Ighv1-75	T	G	12: 115,834,258		probably benign	Het
Ikzf1	A	G	11: 11,700,216		probably benign	Het
Kdm4d	A	G	9: 14,463,564	W333R	probably damaging	Het
Lama3	A	T	18: 12,491,476	N1426I	probably damaging	Het
Lmbrd1	A	G	1: 24,704,878	Y119C	probably damaging	Het
Mctp1	A	G	13: 77,024,857	Y884C	probably damaging	Het
Naip6	G	T	13: 100,303,240	P340T	possibly damaging	Het
Nfkbib	G	T	7: 28,762,103	H70N	probably damaging	Het
Nol4	A	T	18: 22,770,869		probably benign	Het
Obscn	C	T	11: 59,001,088	A6873T	probably benign	Het
Olfr66	T	A	7: 103,881,380	I288F	probably benign	Het
Olfr705	A	G	7: 106,714,025	S219P	probably benign	Het
Olfr986	T	A	9: 40,187,527	N137K	probably benign	Het
Paqr6	A	G	3: 88,366,184	Y136C	probably damaging	Het
Pcdh18	T	A	3: 49,756,044	D274V	probably damaging	Het
Phip	A	G	9: 82,886,692	Y1196H	probably damaging	Het
Prc1	T	C	7: 80,309,442	L345S	probably damaging	Het
Smpdl3a	A	G	10: 57,809,180		probably benign	Het
Ssfa2	A	G	2: 79,660,285	N943S	probably benign	Het
Tac1	G	T	6: 7,559,119		probably null	Het
Tg	A	G	15: 66,764,291	T576A	probably benign	Het
Thbs2	A	T	17: 14,676,316	D770E	probably damaging	Het
Tmem117	T	C	15: 95,011,450	V248A	possibly damaging	Het
Trpm8	T	C	1: 88,328,250	I209T	possibly damaging	Het
Ttc30a1	G	T	2: 75,980,632	T369K	probably benign	Het
Wrap53	A	G	11: 69,563,591	F244L	probably damaging	Het
Wrap73	A	T	4: 154,148,780	Q137L	probably benign	Het
Zfhx4	A	T	3: 5,402,374	T2531S	probably benign	Het

Other mutations in Adamts3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00160:Adamts3	APN	5	89861325	missense	probably damaging	1.00
IGL00340:Adamts3	APN	5	89701666	missense	probably damaging	1.00
IGL00923:Adamts3	APN	5	89684376	missense	probably benign	0.06
IGL01420:Adamts3	APN	5	89703057	missense	possibly damaging	0.57
IGL01522:Adamts3	APN	5	89702943	missense	probably benign	0.14
IGL01676:Adamts3	APN	5	89677754	missense	probably benign	0.00
IGL01676:Adamts3	APN	5	89881543	missense	possibly damaging	0.54
IGL01678:Adamts3	APN	5	89707856	missense	probably damaging	1.00
IGL01936:Adamts3	APN	5	89861423	missense	probably benign	0.00
IGL01956:Adamts3	APN	5	89677911	missense	probably damaging	0.99
IGL02415:Adamts3	APN	5	89706647	splice site	probably null
IGL03261:Adamts3	APN	5	89882897	utr 5 prime	probably benign
IGL03301:Adamts3	APN	5	89707404	missense	probably damaging	1.00
R0041:Adamts3	UTSW	5	89684467	missense	probably benign
R0079:Adamts3	UTSW	5	89693053	missense	probably benign	0.00
R0096:Adamts3	UTSW	5	89701717	nonsense	probably null
R0096:Adamts3	UTSW	5	89701717	nonsense	probably null
R0477:Adamts3	UTSW	5	89684507	missense	probably benign
R0605:Adamts3	UTSW	5	89861475	missense	possibly damaging	0.96
R1036:Adamts3	UTSW	5	89696093	splice site	probably benign
R1462:Adamts3	UTSW	5	89861349	missense	probably benign	0.17
R1462:Adamts3	UTSW	5	89861349	missense	probably benign	0.17
R1621:Adamts3	UTSW	5	89721701	missense	probably damaging	1.00
R1799:Adamts3	UTSW	5	89775421	missense	probably benign	0.00
R2163:Adamts3	UTSW	5	89708718	missense	probably damaging	0.99
R2412:Adamts3	UTSW	5	89701771	missense	probably damaging	0.99
R2420:Adamts3	UTSW	5	89683175	missense	probably damaging	0.97
R2421:Adamts3	UTSW	5	89683175	missense	probably damaging	0.97
R2422:Adamts3	UTSW	5	89683175	missense	probably damaging	0.97
R2921:Adamts3	UTSW	5	89861534	missense	possibly damaging	0.90
R2922:Adamts3	UTSW	5	89861534	missense	possibly damaging	0.90
R2923:Adamts3	UTSW	5	89861534	missense	possibly damaging	0.90
R3402:Adamts3	UTSW	5	89701733	missense	probably benign	0.04
R3431:Adamts3	UTSW	5	89707453	splice site	probably benign
R3432:Adamts3	UTSW	5	89707453	splice site	probably benign
R3813:Adamts3	UTSW	5	89677926	missense	possibly damaging	0.67
R3816:Adamts3	UTSW	5	89705264	missense	probably damaging	0.99
R3905:Adamts3	UTSW	5	89861355	missense	probably damaging	1.00
R3906:Adamts3	UTSW	5	89861355	missense	probably damaging	1.00
R3907:Adamts3	UTSW	5	89861355	missense	probably damaging	1.00
R3908:Adamts3	UTSW	5	89861355	missense	probably damaging	1.00
R4557:Adamts3	UTSW	5	89700487	missense	probably benign	0.03
R4684:Adamts3	UTSW	5	89703007	missense	probably damaging	0.98
R4844:Adamts3	UTSW	5	89677816	missense	probably damaging	0.99
R4925:Adamts3	UTSW	5	89684323	missense	probably benign	0.01
R5097:Adamts3	UTSW	5	89693050	missense	probably damaging	0.97
R5100:Adamts3	UTSW	5	89708643	missense	probably damaging	1.00
R5237:Adamts3	UTSW	5	89775377	missense	probably benign
R5265:Adamts3	UTSW	5	89861552	missense	possibly damaging	0.91
R5322:Adamts3	UTSW	5	89707300	splice site	probably null
R5413:Adamts3	UTSW	5	89708767	missense	probably damaging	1.00
R5459:Adamts3	UTSW	5	89691473	splice site	probably null
R5738:Adamts3	UTSW	5	89708668	missense	probably damaging	1.00
R5979:Adamts3	UTSW	5	89861669	missense	probably damaging	0.96
R5992:Adamts3	UTSW	5	89691335	missense	probably damaging	1.00
R6364:Adamts3	UTSW	5	89721814	missense	possibly damaging	0.92
R6572:Adamts3	UTSW	5	89861609	missense	possibly damaging	0.87
R7098:Adamts3	UTSW	5	89861495	missense	probably damaging	1.00
R7172:Adamts3	UTSW	5	89883001	start gained	probably benign
R7263:Adamts3	UTSW	5	89677742	missense	probably benign	0.03
R7401:Adamts3	UTSW	5	89707450	critical splice acceptor site	probably null
R7599:Adamts3	UTSW	5	89861397	missense	probably benign	0.00
R7829:Adamts3	UTSW	5	89861490	missense	probably damaging	1.00
R7835:Adamts3	UTSW	5	89700440	missense	possibly damaging	0.70
R7892:Adamts3	UTSW	5	89861429	missense	probably benign	0.10
R7918:Adamts3	UTSW	5	89700440	missense	possibly damaging	0.70
R7975:Adamts3	UTSW	5	89861429	missense	probably benign	0.10
X0064:Adamts3	UTSW	5	89703042	missense	possibly damaging	0.75
Z1088:Adamts3	UTSW	5	89684449	missense	probably damaging	0.99

Posted On

2015-04-16