Mutagenetix > Incidental Mutations

Incidental Mutation 'R6976:Adamts4'

568374

Institutional Source

Beutler Lab

Gene Symbol

Adamts4

Ensembl Gene

ENSMUSG00000006403

Gene Name

a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 4

Synonyms

aggrecanase-1, ADAM-TS4

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6976 (G1)

Quality Score

76.0075

Status

Validated

Chromosome

Chromosomal Location

171250421-171260637 bp(+) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

G to T at 171252308 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000151387 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000111314] [ENSMUST00000111315] [ENSMUST00000191871] [ENSMUST00000194778] [ENSMUST00000219033]

Predicted Effect

probably benign
Transcript: ENSMUST00000111314

SMART Domains

Protein: ENSMUSP00000106946
Gene: ENSMUSG00000006403

Domain	Start	End	E-Value	Type
low complexity region	8	21	N/A	INTRINSIC
Pfam:Reprolysin_5	27	214	1.8e-12	PFAM
Pfam:Reprolysin	29	239	1e-19	PFAM
Pfam:Reprolysin_4	33	235	1.2e-10	PFAM
Pfam:Reprolysin_3	50	183	5.4e-12	PFAM
Pfam:Reprolysin_2	50	229	1.9e-9	PFAM
Blast:ACR	240	319	4e-24	BLAST
TSP1	334	386	3.52e-14	SMART
Pfam:ADAM_spacer1	497	614	5.2e-33	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111315

SMART Domains

Protein: ENSMUSP00000106947
Gene: ENSMUSG00000006403

Domain	Start	End	E-Value	Type
signal peptide	1	49	N/A	INTRINSIC
Pfam:Pep_M12B_propep	54	177	5.6e-17	PFAM
Pfam:Reprolysin_5	212	399	6.5e-12	PFAM
Pfam:Reprolysin	214	424	4.6e-19	PFAM
Pfam:Reprolysin_4	219	420	4.6e-10	PFAM
Pfam:Reprolysin_3	235	368	1.9e-11	PFAM
Pfam:Reprolysin_2	236	414	7.2e-9	PFAM
Blast:ACR	425	504	4e-24	BLAST
TSP1	519	571	3.52e-14	SMART
Pfam:ADAM_spacer1	682	799	1.8e-32	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000191871

SMART Domains

Protein: ENSMUSP00000141942
Gene: ENSMUSG00000013593

Domain	Start	End	E-Value	Type
Pfam:Complex1_49kDa	114	146	5.3e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000194778

SMART Domains

Protein: ENSMUSP00000141370
Gene: ENSMUSG00000013593

Domain	Start	End	E-Value	Type
Pfam:Complex1_49kDa	166	231	3.4e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000219033

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

100% (50/50)

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. The encoded preproprotein undergoes proteolytic processing to generate an active zinc-dependent aggrecanase enzyme that degrades cartilage. [provided by RefSeq, Jul 2016]
PHENOTYPE: Homozygous mutant mice do not exhibit any morphological abnormalities. However, they do display impaired coordination and an increased susceptibility to pharmacologically induced seizures. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss2	T	A	2: 155,556,009		probably null	Het
Adgrv1	T	A	13: 81,520,997	K2480M	probably damaging	Het
Ankhd1	A	C	18: 36,648,254	S2120R	probably benign	Het
Ash1l	T	A	3: 88,981,657	V281E	possibly damaging	Het
Bdh1	G	A	16: 31,438,029	A35T	probably benign	Het
Brpf3	A	G	17: 28,835,777	M1098V	probably damaging	Het
Cel	G	A	2: 28,556,842	S439F	probably damaging	Het
Dnah11	T	C	12: 118,198,643	S64G	probably benign	Het
Dpp7	T	C	2: 25,354,824		probably null	Het
Fam83c	T	A	2: 155,830,237	Y426F	possibly damaging	Het
Fasn	A	G	11: 120,819,867	I322T	probably damaging	Het
Glod4	A	G	11: 76,243,580	F22S	probably damaging	Het
Gm3127	A	G	14: 4,172,441	T231A	possibly damaging	Het
Gm49383	A	G	12: 69,196,956	S444P	possibly damaging	Het
Gnaz	T	C	10: 74,991,436	S7P	possibly damaging	Het
Grin2b	C	T	6: 135,780,200	S421N	probably benign	Het
Grm1	T	C	10: 10,689,180	D1128G	probably benign	Het
Hoxb13	A	G	11: 96,196,218	T284A	probably benign	Het
Il9r	G	A	11: 32,193,177	Q260*	probably null	Het
Lrrfip1	T	A	1: 91,115,015	C381S	probably benign	Het
Mitd1	A	T	1: 37,882,697	D85E	probably benign	Het
Muc4	G	A	16: 32,762,518	D2556N	possibly damaging	Het
Nlrc4	A	G	17: 74,445,939	I483T	probably damaging	Het
Olfr699	A	T	7: 106,790,227	M258K	probably damaging	Het
Olfr70	A	G	4: 43,697,170	M1T	probably null	Het
Olfr967	A	G	9: 39,751,244	N286S	probably damaging	Het
Pcdhb7	C	A	18: 37,343,578	A589E	probably benign	Het
Pcdhgb5	G	A	18: 37,731,268	E39K	probably damaging	Het
Pja2	T	C	17: 64,308,959	K314E	probably damaging	Het
Plcb1	A	G	2: 135,262,239	E276G	possibly damaging	Het
Ppp2r5c	A	G	12: 110,544,145	E122G	probably damaging	Het
Prrc2c	A	T	1: 162,692,844	N732K	probably damaging	Het
Rb1cc1	T	A	1: 6,262,902	D1348E	probably benign	Het
Sh3rf1	G	T	8: 61,361,732	E442*	probably null	Het
Snapc1	A	G	12: 73,970,200	D204G	probably damaging	Het
Sry	C	T	Y: 2,662,938	D241N	unknown	Het
Strn4	T	A	7: 16,830,354	M303K	probably benign	Het
Tas2r118	A	G	6: 23,969,471	I197T	probably benign	Het
Tnni3k	A	G	3: 154,792,776	Y809H	probably benign	Het
Tnpo3	A	T	6: 29,572,595	C419*	probably null	Het
Trpm6	T	C	19: 18,783,163	S143P	probably benign	Het
Ttc23l	A	T	15: 10,537,580	C201*	probably null	Het
Ubr4	A	G	4: 139,393,077	N271S	probably damaging	Het
Vmn1r70	T	C	7: 10,634,044	M134T	probably benign	Het
Vmn2r27	C	T	6: 124,224,353	W215*	probably null	Het
Xirp1	A	T	9: 120,017,918	M633K	probably damaging	Het
Zfp174	T	C	16: 3,847,940	I23T	possibly damaging	Het
Zfp536	T	A	7: 37,480,403	S926C	probably damaging	Het
Zfp943	T	C	17: 21,990,941	S65P	possibly damaging	Het

Other mutations in Adamts4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01472:Adamts4	APN	1	171252850	missense	probably damaging	1.00
IGL02496:Adamts4	APN	1	171250943	missense	probably benign	0.00
IGL02510:Adamts4	APN	1	171251390	missense	probably benign	0.08
IGL02695:Adamts4	APN	1	171252634	missense	probably damaging	1.00
IGL02952:Adamts4	APN	1	171251348	missense	probably damaging	1.00
IGL03010:Adamts4	APN	1	171251416	missense	probably damaging	1.00
IGL03304:Adamts4	APN	1	171252869	splice site	probably benign
PIT4305001:Adamts4	UTSW	1	171259041	missense	probably benign
R0331:Adamts4	UTSW	1	171250972	missense	probably benign	0.00
R1302:Adamts4	UTSW	1	171253183	missense	probably damaging	1.00
R1460:Adamts4	UTSW	1	171256440	splice site	probably benign
R1502:Adamts4	UTSW	1	171258990	missense	probably damaging	1.00
R1544:Adamts4	UTSW	1	171252742	missense	probably benign	0.09
R1815:Adamts4	UTSW	1	171256336	missense	probably damaging	0.99
R1982:Adamts4	UTSW	1	171258934	missense	probably benign	0.00
R1986:Adamts4	UTSW	1	171256675	missense	possibly damaging	0.94
R2281:Adamts4	UTSW	1	171256229	missense	probably damaging	1.00
R4261:Adamts4	UTSW	1	171259104	missense	probably benign	0.01
R4750:Adamts4	UTSW	1	171251066	missense	probably benign
R4868:Adamts4	UTSW	1	171252431	intron	probably benign
R4924:Adamts4	UTSW	1	171259074	missense	probably damaging	0.97
R5418:Adamts4	UTSW	1	171252574	missense	probably damaging	1.00
R5468:Adamts4	UTSW	1	171252609	missense	probably benign
R5566:Adamts4	UTSW	1	171250850	start codon destroyed	probably null	0.90
R5781:Adamts4	UTSW	1	171251015	missense	possibly damaging	0.89
R6043:Adamts4	UTSW	1	171252601	missense	probably damaging	1.00
R6053:Adamts4	UTSW	1	171252715	missense	possibly damaging	0.85
R6187:Adamts4	UTSW	1	171250993	missense	probably damaging	1.00
R6614:Adamts4	UTSW	1	171256624	missense	probably benign	0.07
R7291:Adamts4	UTSW	1	171256528	missense	probably benign
R7363:Adamts4	UTSW	1	171259039	missense	probably benign	0.40
R7490:Adamts4	UTSW	1	171256600	nonsense	probably null
R7797:Adamts4	UTSW	1	171257818	missense	probably damaging	1.00
R8191:Adamts4	UTSW	1	171252723	missense
R8408:Adamts4	UTSW	1	171252745	missense	possibly damaging	0.56
R8684:Adamts4	UTSW	1	171258972	missense	probably damaging	1.00
X0062:Adamts4	UTSW	1	171256549	missense	probably damaging	1.00
Z1176:Adamts4	UTSW	1	171258783	missense	probably benign	0.00
Z1176:Adamts4	UTSW	1	171258784	missense	probably benign	0.29

Predicted Primers

PCR Primer
(F):5'- TAGCTGCTGACTGAATTGTTCC -3'
(R):5'- ATCTACTCAGAGAAGCGAAGC -3'

Sequencing Primer
(F):5'- GAATTGTTCCTCCAACCACACAGTG -3'
(R):5'- GAGGGTCCTGAGATCTCTCTC -3'

Posted On

2019-07-11