Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02496:Adamts4'

295824

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Adamts4

Ensembl Gene

ENSMUSG00000006403

Gene Name

ADAM metallopeptidase with thrombospondin type 1 motif 4

Synonyms

aggrecanase-1, ADAM-TS4

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02496

Quality Score

Status

Chromosome

Chromosomal Location

171077990-171088206 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 171078512 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 44 (R44Q)

Ref Sequence

ENSEMBL: ENSMUSP00000151387 (fasta)

Gene Model

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

AlphaFold

Q8BNJ2

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: R32Q

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000106947
Gene: ENSMUSG00000006403
AA Change: R32Q

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: R44Q

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Coding Region Coverage

Validation Efficiency

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	G	1: 71,327,712 (GRCm39)	H1456P	possibly damaging	Het
Abcg1	C	A	17: 31,324,578 (GRCm39)	H274Q	probably damaging	Het
Amigo2	A	T	15: 97,143,494 (GRCm39)	C309*	probably null	Het
Ccdc88c	A	C	12: 100,919,552 (GRCm39)	S446A	probably benign	Het
Cd9	A	T	6: 125,449,458 (GRCm39)	V28E	probably damaging	Het
Cops2	A	T	2: 125,678,163 (GRCm39)		probably benign	Het
Csn1s1	C	T	5: 87,825,453 (GRCm39)		probably benign	Het
Cul9	G	T	17: 46,851,302 (GRCm39)	R373S	possibly damaging	Het
D630045J12Rik	G	T	6: 38,126,640 (GRCm39)	H1457N	probably damaging	Het
Dennd2b	C	A	7: 109,155,442 (GRCm39)	R436L	possibly damaging	Het
Dnah9	A	G	11: 65,920,189 (GRCm39)	S2235P	probably damaging	Het
Efr3b	C	T	12: 4,033,391 (GRCm39)	V139I	probably benign	Het
Fbxo10	A	T	4: 45,043,883 (GRCm39)	W647R	probably damaging	Het
Flnb	T	A	14: 7,930,919 (GRCm38)		probably benign	Het
Flnc	G	T	6: 29,440,684 (GRCm39)	V301L	probably damaging	Het
Hfm1	T	C	5: 107,049,627 (GRCm39)	S445G	probably benign	Het
Hif3a	A	G	7: 16,773,603 (GRCm39)		probably benign	Het
Hsd17b4	T	C	18: 50,288,220 (GRCm39)	Y217H	probably damaging	Het
Iba57	T	C	11: 59,049,772 (GRCm39)	T192A	probably benign	Het
Igkv5-48	A	T	6: 69,703,671 (GRCm39)	I78N	probably damaging	Het
Inhbe	A	T	10: 127,186,797 (GRCm39)	W128R	probably damaging	Het
Ism1	T	C	2: 139,599,121 (GRCm39)	C365R	probably damaging	Het
Kif19a	A	T	11: 114,670,470 (GRCm39)	T127S	probably damaging	Het
Kmt2d	C	A	15: 98,755,439 (GRCm39)		probably benign	Het
Mmp20	A	G	9: 7,654,042 (GRCm39)	R321G	probably damaging	Het
Msl2	T	C	9: 100,977,854 (GRCm39)	M76T	possibly damaging	Het
Nme9	T	C	9: 99,351,684 (GRCm39)	C223R	probably damaging	Het
Nucb1	G	T	7: 45,144,467 (GRCm39)		probably benign	Het
Ocrl	G	A	X: 47,022,315 (GRCm39)	D262N	probably benign	Het
Or13a18	A	C	7: 140,190,081 (GRCm39)	M1L	probably benign	Het
Or5b98	T	A	19: 12,931,556 (GRCm39)	I201N	possibly damaging	Het
Or6b1	A	C	6: 42,815,738 (GRCm39)	I308L	probably benign	Het
P4ha1	A	G	10: 59,206,824 (GRCm39)		probably null	Het
Parp8	T	C	13: 116,998,838 (GRCm39)		probably benign	Het
Pcdhb6	A	G	18: 37,468,507 (GRCm39)	D476G	probably damaging	Het
Pikfyve	A	G	1: 65,303,535 (GRCm39)	E1685G	possibly damaging	Het
Plod2	T	A	9: 92,489,147 (GRCm39)	L714Q	probably damaging	Het
Plscr2	A	G	9: 92,171,716 (GRCm39)	I103V	probably benign	Het
Plscr3	C	A	11: 69,738,209 (GRCm39)		probably benign	Het
Pmaip1	A	G	18: 66,596,370 (GRCm39)	R80G	probably damaging	Het
Ppm1d	C	T	11: 85,230,492 (GRCm39)	P370L	possibly damaging	Het
Prr36	C	A	8: 4,266,407 (GRCm39)	E48*	probably null	Het
Ptgir	G	A	7: 16,641,409 (GRCm39)	V234I	possibly damaging	Het
Ptk7	A	T	17: 46,901,070 (GRCm39)	V219E	probably benign	Het
Rab39b	T	A	X: 74,618,609 (GRCm39)	I74F	probably damaging	Het
Rasal2	A	T	1: 156,977,449 (GRCm39)	M1075K	possibly damaging	Het
Rpl37a	G	A	1: 72,750,885 (GRCm39)	A20T	probably null	Het
Serpinb10	A	C	1: 107,466,155 (GRCm39)		probably null	Het
Sipa1l1	T	A	12: 82,471,868 (GRCm39)	Y1283N	probably damaging	Het
Slc22a23	T	A	13: 34,528,468 (GRCm39)	I105F	possibly damaging	Het
Slc25a20	T	A	9: 108,559,599 (GRCm39)	I221N	probably damaging	Het
Smarcal1	A	T	1: 72,659,247 (GRCm39)	H691L	probably damaging	Het
Smo	A	C	6: 29,758,480 (GRCm39)	T542P	probably damaging	Het
Spats2	T	A	15: 99,071,329 (GRCm39)	I51N	probably damaging	Het
Spon1	G	T	7: 113,635,897 (GRCm39)	V704L	probably benign	Het
Tex9	T	A	9: 72,389,774 (GRCm39)	Q112L	probably benign	Het
Tgfbr2	T	C	9: 115,919,486 (GRCm39)	E580G	probably benign	Het
Top2b	T	A	14: 16,387,335 (GRCm38)	V141E	probably benign	Het
Trhde	A	T	10: 114,636,466 (GRCm39)	L247*	probably null	Het
Umodl1	G	T	17: 31,217,628 (GRCm39)	V1145F	probably damaging	Het
Vasp	C	A	7: 18,992,748 (GRCm39)		probably benign	Het
Vmn1r8	G	T	6: 57,013,556 (GRCm39)	L202F	probably damaging	Het
Vmn2r111	T	C	17: 22,787,837 (GRCm39)	T505A	probably benign	Het
Wdr27	A	G	17: 15,112,693 (GRCm39)		probably benign	Het
Wfdc1	T	G	8: 120,406,909 (GRCm39)	V109G	probably damaging	Het
Zan	C	A	5: 137,463,056 (GRCm39)	E708*	probably null	Het
Zbtb1	T	A	12: 76,432,169 (GRCm39)	F52I	possibly damaging	Het
Zfp236	A	G	18: 82,648,117 (GRCm39)	S1015P	probably damaging	Het
Zfp532	T	C	18: 65,757,113 (GRCm39)	S349P	probably damaging	Het
Znfx1	A	T	2: 166,889,550 (GRCm39)	C731S	possibly damaging	Het

Other mutations in Adamts4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01472:Adamts4	APN	1	171,080,419 (GRCm39)	missense	probably damaging	1.00
IGL02510:Adamts4	APN	1	171,078,959 (GRCm39)	missense	probably benign	0.08
IGL02695:Adamts4	APN	1	171,080,203 (GRCm39)	missense	probably damaging	1.00
IGL02952:Adamts4	APN	1	171,078,917 (GRCm39)	missense	probably damaging	1.00
IGL03010:Adamts4	APN	1	171,078,985 (GRCm39)	missense	probably damaging	1.00
IGL03304:Adamts4	APN	1	171,080,438 (GRCm39)	splice site	probably benign
PIT4305001:Adamts4	UTSW	1	171,086,610 (GRCm39)	missense	probably benign
R0331:Adamts4	UTSW	1	171,078,541 (GRCm39)	missense	probably benign	0.00
R1302:Adamts4	UTSW	1	171,080,752 (GRCm39)	missense	probably damaging	1.00
R1460:Adamts4	UTSW	1	171,084,009 (GRCm39)	splice site	probably benign
R1502:Adamts4	UTSW	1	171,086,559 (GRCm39)	missense	probably damaging	1.00
R1544:Adamts4	UTSW	1	171,080,311 (GRCm39)	missense	probably benign	0.09
R1815:Adamts4	UTSW	1	171,083,905 (GRCm39)	missense	probably damaging	0.99
R1982:Adamts4	UTSW	1	171,086,503 (GRCm39)	missense	probably benign	0.00
R1986:Adamts4	UTSW	1	171,084,244 (GRCm39)	missense	possibly damaging	0.94
R2281:Adamts4	UTSW	1	171,083,798 (GRCm39)	missense	probably damaging	1.00
R4261:Adamts4	UTSW	1	171,086,673 (GRCm39)	missense	probably benign	0.01
R4750:Adamts4	UTSW	1	171,078,635 (GRCm39)	missense	probably benign
R4868:Adamts4	UTSW	1	171,080,000 (GRCm39)	intron	probably benign
R4924:Adamts4	UTSW	1	171,086,643 (GRCm39)	missense	probably damaging	0.97
R5418:Adamts4	UTSW	1	171,080,143 (GRCm39)	missense	probably damaging	1.00
R5468:Adamts4	UTSW	1	171,080,178 (GRCm39)	missense	probably benign
R5566:Adamts4	UTSW	1	171,078,419 (GRCm39)	start codon destroyed	probably null	0.90
R5781:Adamts4	UTSW	1	171,078,584 (GRCm39)	missense	possibly damaging	0.89
R6043:Adamts4	UTSW	1	171,080,170 (GRCm39)	missense	probably damaging	1.00
R6053:Adamts4	UTSW	1	171,080,284 (GRCm39)	missense	possibly damaging	0.85
R6187:Adamts4	UTSW	1	171,078,562 (GRCm39)	missense	probably damaging	1.00
R6614:Adamts4	UTSW	1	171,084,193 (GRCm39)	missense	probably benign	0.07
R6976:Adamts4	UTSW	1	171,079,877 (GRCm39)	intron	probably benign
R7291:Adamts4	UTSW	1	171,084,097 (GRCm39)	missense	probably benign
R7363:Adamts4	UTSW	1	171,086,608 (GRCm39)	missense	probably benign	0.40
R7490:Adamts4	UTSW	1	171,084,169 (GRCm39)	nonsense	probably null
R7797:Adamts4	UTSW	1	171,085,387 (GRCm39)	missense	probably damaging	1.00
R8191:Adamts4	UTSW	1	171,080,292 (GRCm39)	missense
R8408:Adamts4	UTSW	1	171,080,314 (GRCm39)	missense	possibly damaging	0.56
R8684:Adamts4	UTSW	1	171,086,541 (GRCm39)	missense	probably damaging	1.00
R9541:Adamts4	UTSW	1	171,084,695 (GRCm39)	missense	probably damaging	1.00
R9694:Adamts4	UTSW	1	171,081,530 (GRCm39)	missense	probably benign	0.02
R9760:Adamts4	UTSW	1	171,086,334 (GRCm39)	missense	probably benign
X0062:Adamts4	UTSW	1	171,084,118 (GRCm39)	missense	probably damaging	1.00
Z1176:Adamts4	UTSW	1	171,086,353 (GRCm39)	missense	probably benign	0.29
Z1176:Adamts4	UTSW	1	171,086,352 (GRCm39)	missense	probably benign	0.00

Posted On

2015-04-16