Mutagenetix > Incidental Mutation

Incidental Mutation 'R1036:Adamts3'

93782

Institutional Source

Beutler Lab

Gene Symbol

Adamts3

Ensembl Gene

ENSMUSG00000043635

Gene Name

ADAM metallopeptidase with thrombospondin type 1 motif 3

Synonyms

1100001H14Rik, 6330442E02Rik

MMRRC Submission

039135-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1036 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

89824946-90031193 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 89843952 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000132219 (fasta)

Gene Model

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

AlphaFold

E9Q287

Predicted Effect

probably benign
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 benign
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

1x: 98.9%
3x: 97.9%
10x: 94.7%
20x: 86.2%

Validation Efficiency

100% (40/40)

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	G	A	5: 77,024,130 (GRCm39)	T174M	probably damaging	Het
Abca12	A	G	1: 71,302,569 (GRCm39)		probably null	Het
Abcg1	C	A	17: 31,330,243 (GRCm39)	Q515K	probably damaging	Het
Acaa1b	A	T	9: 118,979,884 (GRCm39)		probably benign	Het
Aoah	A	C	13: 21,024,339 (GRCm39)		probably benign	Het
Arhgap10	G	A	8: 78,037,398 (GRCm39)	P610L	probably damaging	Het
Casq2	G	T	3: 102,049,531 (GRCm39)	A295S	probably damaging	Het
Col6a4	A	G	9: 105,945,397 (GRCm39)	Y906H	probably damaging	Het
Dcaf13	T	A	15: 39,007,113 (GRCm39)	I349N	probably damaging	Het
Ecd	A	G	14: 20,383,386 (GRCm39)		probably benign	Het
Enpep	C	A	3: 129,077,758 (GRCm39)	V620L	probably damaging	Het
Fbln7	A	G	2: 128,735,815 (GRCm39)	S268G	possibly damaging	Het
Fcho1	C	T	8: 72,165,204 (GRCm39)	A418T	probably benign	Het
Gatd1	T	A	7: 140,989,045 (GRCm39)	T205S	probably damaging	Het
Gbe1	T	A	16: 70,325,775 (GRCm39)	V604E	probably damaging	Het
Ghsr	T	A	3: 27,428,869 (GRCm39)	I298N	probably damaging	Het
Glis1	T	C	4: 107,489,461 (GRCm39)	Y683H	probably benign	Het
Gpr162	T	A	6: 124,837,823 (GRCm39)	I276F	probably damaging	Het
Hps6	A	G	19: 45,992,680 (GRCm39)	T206A	probably benign	Het
Kcnk10	T	C	12: 98,462,445 (GRCm39)		probably benign	Het
Krt90	A	G	15: 101,471,151 (GRCm39)	V37A	probably benign	Het
Lmbr1	T	C	5: 29,463,745 (GRCm39)	K160E	probably damaging	Het
Nif3l1	A	G	1: 58,487,032 (GRCm39)	T73A	probably damaging	Het
Nup107	A	T	10: 117,593,199 (GRCm39)	D826E	probably damaging	Het
Nup210l	C	T	3: 90,100,247 (GRCm39)		probably benign	Het
Omd	A	G	13: 49,743,447 (GRCm39)	R166G	probably damaging	Het
Plekha4	T	C	7: 45,199,400 (GRCm39)		probably benign	Het
Ptgdr	A	G	14: 45,096,572 (GRCm39)	S47P	probably damaging	Het
Sec24c	A	G	14: 20,742,965 (GRCm39)	I940V	probably benign	Het
Shkbp1	A	G	7: 27,044,721 (GRCm39)	S457P	possibly damaging	Het
Skint1	T	C	4: 111,876,493 (GRCm39)	V138A	possibly damaging	Het
Slc38a9	A	G	13: 112,838,193 (GRCm39)		probably benign	Het
Spata31e5	A	G	1: 28,816,883 (GRCm39)	L383P	probably benign	Het
Srsf7	A	T	17: 80,513,266 (GRCm39)		probably benign	Het
Stau1	T	C	2: 166,793,235 (GRCm39)	K300R	probably damaging	Het
Stox1	A	T	10: 62,503,674 (GRCm39)	I127K	probably damaging	Het
Sympk	G	A	7: 18,782,378 (GRCm39)	R832Q	probably damaging	Het
Usp3	A	G	9: 66,437,513 (GRCm39)		probably benign	Het

Other mutations in Adamts3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00160:Adamts3	APN	5	90,009,184 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- ACACAGGAGCTGTACTGTTTGCC -3'
(R):5'- GCACTTGCTAACTACTGCCAACGC -3'

Sequencing Primer
(F):5'- CACTGGTTAGATGCAACATGC -3'
(R):5'- GCCAACGCATTTTGACTTGAAC -3'

Posted On

2014-01-05