Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4305001:Adamts4'

554531

Institutional Source

Beutler Lab

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 #

PIT4305001 (G1)

Quality Score

187.009

Status

Not validated

Chromosome

Chromosomal Location

171077990-171088206 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 171086610 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 801 (N801D)

Ref Sequence

ENSEMBL: ENSMUSP00000151387 (fasta)

Gene Model

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

AlphaFold

Q8BNJ2

Predicted Effect

probably benign
Transcript: ENSMUST00000111314
AA Change: N604D

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

SMART Domains

Protein: ENSMUSP00000106946
Gene: ENSMUSG00000006403
AA Change: N604D

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: N789D

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

SMART Domains

Protein: ENSMUSP00000106947
Gene: ENSMUSG00000006403
AA Change: N789D

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: ENSMUST00000219033
AA Change: N801D

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

Coding Region Coverage

1x: 93.4%
3x: 91.3%
10x: 86.8%
20x: 76.6%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy2	T	C	13: 68,826,721 (GRCm39)	K661R	probably benign	Het
Akap1	A	T	11: 88,735,204 (GRCm39)	M486K	probably benign	Het
Arhgap40	T	A	2: 158,373,825 (GRCm39)	I202N	probably benign	Het
C1qtnf2	T	A	11: 43,382,022 (GRCm39)	L248Q	probably damaging	Het
Casp1	A	T	9: 5,306,135 (GRCm39)	H340L	probably benign	Het
Cd5	A	G	19: 10,703,750 (GRCm39)	V104A	possibly damaging	Het
Celsr1	T	A	15: 85,785,138 (GRCm39)	E3032V	possibly damaging	Het
Cts7	A	G	13: 61,504,386 (GRCm39)	I59T	probably damaging	Het
Cutc	G	T	19: 43,756,708 (GRCm39)	A267S	probably damaging	Het
Dmwd	A	G	7: 18,814,643 (GRCm39)	Q431R	probably damaging	Het
Dnah6	T	C	6: 73,042,738 (GRCm39)	N3280S	probably benign	Het
Dnah7b	A	T	1: 46,412,508 (GRCm39)	N4039I	probably damaging	Het
Dnaja4	T	C	9: 54,617,918 (GRCm39)	I260T	probably benign	Het
Drd5	T	C	5: 38,477,927 (GRCm39)	F307L	probably damaging	Het
Dsc2	C	T	18: 20,179,300 (GRCm39)	S256N	probably damaging	Het
Dstyk	G	T	1: 132,383,634 (GRCm39)	E617*	probably null	Het
Dusp15	G	A	2: 152,787,396 (GRCm39)	H72Y	probably benign	Het
Dysf	C	T	6: 84,077,216 (GRCm39)	R660*	probably null	Het
Fbxl13	T	A	5: 21,727,146 (GRCm39)	I584L	probably benign	Het
Gsap	T	C	5: 21,391,407 (GRCm39)	L16P	probably damaging	Het
Hgsnat	C	T	8: 26,435,227 (GRCm39)	A636T	possibly damaging	Het
Hivep1	A	G	13: 42,335,147 (GRCm39)	T161A		Het
Hspg2	T	C	4: 137,277,684 (GRCm39)	S2928P	possibly damaging	Het
Ifi214	G	A	1: 173,355,485 (GRCm39)	P108S	probably benign	Het
Il17ra	A	T	6: 120,458,367 (GRCm39)	Y506F	probably damaging	Het
Il9r	T	A	11: 32,144,734 (GRCm39)	Q53L	probably benign	Het
Irf2bp2	C	T	8: 127,319,398 (GRCm39)	G260R	probably damaging	Het
Jdp2	T	A	12: 85,685,626 (GRCm39)	I129N	probably damaging	Het
Kif1b	T	C	4: 149,305,249 (GRCm39)		probably null	Het
Klrd1	A	G	6: 129,573,670 (GRCm39)	T120A	unknown	Het
Lfng	A	G	5: 140,598,283 (GRCm39)	N202D	probably damaging	Het
Ltbp3	A	G	19: 5,802,095 (GRCm39)	E757G	probably damaging	Het
Ltn1	G	A	16: 87,217,211 (GRCm39)	P342L	probably damaging	Het
Lum	A	C	10: 97,404,738 (GRCm39)	Y211S	probably damaging	Het
Ncapd2	G	A	6: 125,160,990 (GRCm39)	R292*	probably null	Het
Nlrc4	T	C	17: 74,753,304 (GRCm39)	T360A	probably damaging	Het
Or4c1	T	C	2: 89,133,727 (GRCm39)	I70V	probably benign	Het
Or7g32	T	C	9: 19,389,357 (GRCm39)	Y63C	probably damaging	Het
Pakap	C	A	4: 57,638,029 (GRCm39)	T22K	possibly damaging	Het
Pde3a	A	G	6: 141,438,036 (GRCm39)	D1035G	probably benign	Het
Phf20l1	A	T	15: 66,484,901 (GRCm39)	K322I	possibly damaging	Het
Pik3r3	A	C	4: 116,149,323 (GRCm39)	N349T	probably benign	Het
Poc1a	A	G	9: 106,227,028 (GRCm39)	Q420R		Het
Prl7d1	A	T	13: 27,898,320 (GRCm39)	M63K	possibly damaging	Het
Rap1gds1	C	A	3: 138,662,061 (GRCm39)	M398I	probably benign	Het
Rapgef6	T	A	11: 54,570,203 (GRCm39)	V1192D	probably damaging	Het
Rif1	T	C	2: 52,001,970 (GRCm39)	V166A		Het
Robo4	T	C	9: 37,322,687 (GRCm39)	Y847H	probably damaging	Het
Sardh	T	C	2: 27,118,326 (GRCm39)	N468S	probably damaging	Het
Sema5a	A	G	15: 32,628,345 (GRCm39)	T553A	probably benign	Het
Serpina12	A	G	12: 104,001,976 (GRCm39)	Y247H	probably damaging	Het
Speer4e2	T	C	5: 15,028,804 (GRCm39)	D29G	probably benign	Het
Ston2	G	T	12: 91,615,276 (GRCm39)	D377E	possibly damaging	Het
Syne1	A	G	10: 5,283,023 (GRCm39)	S1557P	probably damaging	Het
Syt6	C	T	3: 103,482,769 (GRCm39)	R26W	possibly damaging	Het
Tep1	C	T	14: 51,066,684 (GRCm39)	G2305R	possibly damaging	Het
Ticrr	A	G	7: 79,328,771 (GRCm39)	T637A	possibly damaging	Het
Tnn	A	T	1: 159,913,647 (GRCm39)	F1546Y	possibly damaging	Het
Tpr	A	G	1: 150,315,888 (GRCm39)	D2055G	possibly damaging	Het
Trim39	A	G	17: 36,579,862 (GRCm39)	V31A	possibly damaging	Het
Trpc7	G	T	13: 57,035,321 (GRCm39)	T204K	probably benign	Het
Urgcp	T	C	11: 5,667,996 (GRCm39)	Y157C	probably damaging	Het
Vmn1r81	A	T	7: 11,994,590 (GRCm39)	I6K	probably benign	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
IGL02496:Adamts4	APN	1	171,078,512 (GRCm39)	missense	probably benign	0.00
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
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

Predicted Primers

PCR Primer
(F):5'- TACCTGGCCCTGAAGCTTTC -3'
(R):5'- TGCTCATTCTCCCAGATGAGTC -3'

Sequencing Primer
(F):5'- TGGCCCTGAAGCTTTCTGACG -3'
(R):5'- ATTCTCCCAGATGAGTCCGAGG -3'

Posted On

2019-06-07