Mutagenetix > Incidental Mutations

Incidental Mutation 'R4750:Adamts4'

357460

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

042031-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4750 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

171250421-171260637 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 171251066 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 85 (V85D)

Ref Sequence

ENSEMBL: ENSMUSP00000151387 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000013737] [ENSMUST00000111314] [ENSMUST00000111315] [ENSMUST00000111318] [ENSMUST00000191871] [ENSMUST00000194778] [ENSMUST00000219033]

Predicted Effect

probably benign
Transcript: ENSMUST00000013737

SMART Domains

Protein: ENSMUSP00000013737
Gene: ENSMUSG00000013593

Domain	Start	End	E-Value	Type
Pfam:Complex1_49kDa	193	463	1.1e-131	PFAM

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
AA Change: V73D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000106947
Gene: ENSMUSG00000006403
AA Change: V73D

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: ENSMUST00000111318

SMART Domains

Protein: ENSMUSP00000106950
Gene: ENSMUSG00000013593

Domain	Start	End	E-Value	Type
Pfam:Complex1_49kDa	193	236	2e-21	PFAM
Pfam:Complex1_49kDa	232	437	1.7e-105	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136976

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
AA Change: V85D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

97% (89/92)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110008P14Rik	C	T	2: 32,379,413		probably null	Het
1700074P13Rik	A	G	6: 40,921,021	W243R	probably damaging	Het
2510039O18Rik	T	A	4: 147,941,488	L155Q	probably damaging	Het
Aadac	T	C	3: 60,035,817	F48L	probably benign	Het
Aadat	T	A	8: 60,526,600	N165K	probably benign	Het
Acan	C	A	7: 79,092,718	D557E	probably damaging	Het
Agt	A	G	8: 124,556,937	V481A	probably benign	Het
Angpt1	T	C	15: 42,676,401	N21D	probably benign	Het
Ankrd52	A	C	10: 128,378,089	D38A	probably damaging	Het
Ap1g2	G	T	14: 55,104,365	Q247K	probably damaging	Het
Apaf1	T	C	10: 91,060,188	R341G	probably damaging	Het
Arf2	T	C	11: 103,979,759		probably null	Het
Arhgef1	A	G	7: 24,918,576		probably benign	Het
Bbox1	T	A	2: 110,265,521	Y366F	possibly damaging	Het
Bmp3	A	G	5: 98,872,558	E280G	possibly damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,712,500		probably benign	Het
Cdh12	T	A	15: 21,583,808	V578D	possibly damaging	Het
Cdk19	T	C	10: 40,476,199	S282P	probably damaging	Het
Cfap46	A	G	7: 139,679,323		probably null	Het
Cfhr3	T	A	1: 139,584,828		noncoding transcript	Het
Ctrc	T	A	4: 141,841,523	Y123F	probably benign	Het
Enpp4	A	G	17: 44,102,355	M96T	probably damaging	Het
Exosc10	T	A	4: 148,562,394	S154T	possibly damaging	Het
Fbxo21	G	A	5: 118,000,468	R486H	probably benign	Het
Foxj3	C	A	4: 119,616,590	A204E	probably damaging	Het
Gas6	T	G	8: 13,476,227	D237A	probably benign	Het
Gimap8	A	G	6: 48,650,427	S112G	probably benign	Het
Gm4787	T	C	12: 81,378,367	N339S	possibly damaging	Het
Gm6185	T	C	1: 161,182,363		noncoding transcript	Het
Gramd3	A	G	18: 56,432,300	E9G	probably benign	Het
Hmgxb3	A	T	18: 61,167,496	D169E	probably benign	Het
Isl2	T	A	9: 55,544,312	V162D	probably benign	Het
Kcns3	T	A	12: 11,091,654	D348V	probably damaging	Het
Kcp	G	A	6: 29,484,626	P1318S	probably benign	Het
Kif12	T	A	4: 63,167,783	Q415L	probably damaging	Het
Lama3	T	A	18: 12,504,359	H45Q	probably benign	Het
Lonp2	A	T	8: 86,631,502	K117M	probably benign	Het
Loxl4	T	A	19: 42,605,004	N243Y	probably damaging	Het
Lrif1	C	A	3: 106,735,564	Q662K	probably benign	Het
Lrrc37a	T	A	11: 103,455,480	I3187L	probably benign	Het
Lsg1	A	G	16: 30,565,449	I521T	probably damaging	Het
Mecom	T	G	3: 29,957,530	K865Q	probably damaging	Het
Myh10	T	C	11: 68,785,314	I790T	probably damaging	Het
Nek7	C	T	1: 138,498,673	S234N	probably damaging	Het
Nepro	T	C	16: 44,730,182	L179P	probably damaging	Het
Nexn	A	G	3: 152,237,722	C649R	probably damaging	Het
Nsmf	T	C	2: 25,055,026	S34P	probably damaging	Het
Olfr1140	C	T	2: 87,746,508	T104I	probably benign	Het
Olfr1339	T	A	4: 118,734,733	V68D	possibly damaging	Het
Olfr1350	A	G	7: 6,570,851	I287V	probably benign	Het
Olfr1364	A	G	13: 21,573,743	S238P	possibly damaging	Het
Olfr354	T	A	2: 36,907,716	S257T	probably benign	Het
Olfr406	T	A	11: 74,269,420	F10L	probably benign	Het
Olfr417	A	G	1: 174,368,922	I2V	probably benign	Het
Olfr685	A	T	7: 105,180,926	I144N	probably damaging	Het
Olfr702	A	G	7: 106,824,307	F73S	probably damaging	Het
P2rx5	G	T	11: 73,164,877	K53N	probably damaging	Het
Pcdhb20	C	A	18: 37,506,131	A570E	possibly damaging	Het
Pip4k2c	T	C	10: 127,211,417	H32R	unknown	Het
Pkhd1	T	A	1: 20,524,112	D1259V	possibly damaging	Het
Plekha7	A	T	7: 116,137,311	V889E	probably damaging	Het
Polr2b	A	C	5: 77,332,039	E546D	possibly damaging	Het
Ppm1l	A	G	3: 69,549,328	T193A	probably damaging	Het
Ppp1r37	G	T	7: 19,531,520	D710E	probably benign	Het
Prdm4	A	G	10: 85,899,221	F679L	probably damaging	Het
Prkcd	A	G	14: 30,610,301	M1T	probably null	Het
Rcor3	A	G	1: 192,130,449	Y77H	probably damaging	Het
Rdh5	T	C	10: 128,918,366	E66G	possibly damaging	Het
Slc12a5	A	G	2: 164,982,931	M396V	probably benign	Het
Slco5a1	T	G	1: 12,879,280	T629P	probably damaging	Het
Smarca5	A	C	8: 80,733,707	N133K	probably benign	Het
Spag5	T	C	11: 78,320,052	M927T	probably benign	Het
Spint4	A	T	2: 164,700,146	D39V	probably damaging	Het
Syt6	T	A	3: 103,630,917	*512R	probably null	Het
Tmem247	T	C	17: 86,922,342	C204R	probably damaging	Het
Tmem72	A	G	6: 116,695,434	Y149H	probably damaging	Het
Trpm6	T	C	19: 18,876,064	V1816A	probably damaging	Het
Usp35	A	G	7: 97,310,339	V1008A	possibly damaging	Het
Washc4	T	C	10: 83,591,052	S1075P	probably damaging	Het
Wdr34	T	C	2: 30,033,920	T198A	probably benign	Het
Xylb	G	T	9: 119,359,313	G62*	probably null	Het
Zfp142	T	C	1: 74,572,458	E623G	probably damaging	Het
Zfp239	A	G	6: 117,871,739	Y146C	probably 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
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
R6976:Adamts4	UTSW	1	171252308	intron	probably benign
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
X0062:Adamts4	UTSW	1	171256549	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTGCAAAGATTCCAACCCTG -3'
(R):5'- GTACTGCAGTACCCCTAATAGG -3'

Sequencing Primer
(F):5'- AAGATTCCAACCCTGCTTGC -3'
(R):5'- GACTCCGGATCTCCATTGATG -3'

Posted On

2015-11-11