Mutagenetix > Incidental Mutation

Incidental Mutation 'R6861:Adamtsl4'

535498

Institutional Source

Beutler Lab

Gene Symbol

Adamtsl4

Ensembl Gene

ENSMUSG00000015850

Gene Name

ADAMTS-like 4

Synonyms

Tsrc1

MMRRC Submission

044962-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6861 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

95583511-95595228 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 95588194 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 598 (R598C)

Ref Sequence

ENSEMBL: ENSMUSP00000113424 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015994] [ENSMUST00000117782] [ENSMUST00000148854]

AlphaFold

Q80T21

Predicted Effect

probably damaging
Transcript: ENSMUST00000015994
AA Change: R598C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000015994
Gene: ENSMUSG00000015850
AA Change: R598C

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
TSP1	46	96	1.07e-4	SMART
low complexity region	109	118	N/A	INTRINSIC
low complexity region	160	172	N/A	INTRINSIC
low complexity region	260	269	N/A	INTRINSIC
Pfam:ADAM_spacer1	449	564	3.9e-31	PFAM
low complexity region	607	623	N/A	INTRINSIC
TSP1	632	688	6e0	SMART
TSP1	690	748	5.64e-4	SMART
TSP1	750	806	7.16e-6	SMART
TSP1	808	871	1.95e-2	SMART
TSP1	875	933	7.86e-3	SMART
TSP1	935	988	3.34e-6	SMART
Pfam:PLAC	995	1025	4.2e-13	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000117782
AA Change: R598C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113424
Gene: ENSMUSG00000015850
AA Change: R598C

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
TSP1	46	96	1.07e-4	SMART
low complexity region	109	118	N/A	INTRINSIC
low complexity region	160	172	N/A	INTRINSIC
low complexity region	260	269	N/A	INTRINSIC
Pfam:ADAM_spacer1	449	564	3e-31	PFAM
low complexity region	607	623	N/A	INTRINSIC
TSP1	632	688	6e0	SMART
TSP1	690	748	5.64e-4	SMART
TSP1	750	806	7.16e-6	SMART
TSP1	808	871	1.95e-2	SMART
TSP1	875	933	7.86e-3	SMART
TSP1	935	988	3.34e-6	SMART
Pfam:PLAC	994	1026	3e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000148854

SMART Domains

Protein: ENSMUSP00000120844
Gene: ENSMUSG00000015850

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Blast:TSP1	51	70	2e-6	BLAST

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

MGI Phenotype

FUNCTION: The protein encoded by this gene is a member of the ADAMTS superfamily of secreted proteins, which contain a metalloprotease domain at the N-terminus and a C-terminal ancillary domain. ADAMTS-like proteins lack protease activity and resemble the ancillary domain of ADAMTS proteins. ADAMTS-like proteins have been implicated in regulation of the extracellular matrix. The encoded protein contains 7 thrombospondin type 1 repeats, a conserved extracellular domain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014]

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adra2a	T	C	19: 54,034,818 (GRCm39)	L58P	probably damaging	Het
Ajm1	C	CTCTA	2: 25,469,733 (GRCm39)		probably null	Het
Alox5ap	A	G	5: 149,201,927 (GRCm39)	D2G	probably damaging	Het
Arid1b	G	A	17: 5,377,961 (GRCm39)	V1238M	possibly damaging	Het
Bank1	A	G	3: 135,960,764 (GRCm39)	V31A	probably benign	Het
Bptf	G	A	11: 106,953,391 (GRCm39)	T2117M	probably damaging	Het
Cadps	G	A	14: 12,522,401 (GRCm38)	R588*	probably null	Het
Cavin4	A	G	4: 48,672,214 (GRCm39)	I220V	probably benign	Het
Cep192	G	A	18: 67,974,699 (GRCm39)	M1267I	probably benign	Het
Cers5	G	A	15: 99,670,244 (GRCm39)		probably benign	Het
Cfap65	A	T	1: 74,964,274 (GRCm39)	I558N	probably damaging	Het
Cfh	A	T	1: 140,028,621 (GRCm39)	S1025T	probably benign	Het
Cftr	A	G	6: 18,268,107 (GRCm39)	I689V	probably benign	Het
Cgrrf1	T	C	14: 47,069,785 (GRCm39)	I18T	probably damaging	Het
CK137956	A	G	4: 127,864,519 (GRCm39)	S37P	probably damaging	Het
Clca4a	T	C	3: 144,676,416 (GRCm39)	D88G	probably benign	Het
Col11a1	G	A	3: 113,961,141 (GRCm39)	G1166D	probably damaging	Het
Col24a1	G	A	3: 145,166,589 (GRCm39)	G1075S	probably damaging	Het
Crispld2	C	T	8: 120,752,852 (GRCm39)	T299M	probably damaging	Het
Cyb561a3	T	A	19: 10,562,701 (GRCm39)	Y114N	probably damaging	Het
Cyp3a57	T	A	5: 145,307,773 (GRCm39)	W147R	possibly damaging	Het
Dnah2	C	A	11: 69,346,789 (GRCm39)	R2599L	possibly damaging	Het
Dock1	T	A	7: 134,373,207 (GRCm39)	S525T	probably benign	Het
Drc7	T	G	8: 95,789,025 (GRCm39)		probably null	Het
Efhd2	G	T	4: 141,587,192 (GRCm39)		probably null	Het
Epb41l1	A	T	2: 156,367,142 (GRCm39)	E658D	probably benign	Het
Evi5	C	T	5: 107,896,184 (GRCm39)	S753N	probably benign	Het
Exoc3	A	T	13: 74,337,319 (GRCm39)	D427E	probably benign	Het
Fbxw9	A	G	8: 85,792,740 (GRCm39)	D363G	probably damaging	Het
Fcer2a	T	C	8: 3,732,910 (GRCm39)	Y277C	probably damaging	Het
Fstl5	A	T	3: 76,229,523 (GRCm39)	Y108F	probably damaging	Het
Gcn1	A	G	5: 115,749,108 (GRCm39)	D1880G	probably benign	Het
Gm4924	T	A	10: 82,214,948 (GRCm39)	Y915*	probably null	Het
Gpr139	T	A	7: 118,743,875 (GRCm39)	I237F	probably benign	Het
Hao2	A	G	3: 98,784,498 (GRCm39)	L289S	probably damaging	Het
Hexim1	A	G	11: 103,007,793 (GRCm39)	S16G	probably benign	Het
Hmgcs1	T	A	13: 120,161,535 (GRCm39)	M109K	probably damaging	Het
Hs3st4	T	A	7: 123,996,052 (GRCm39)	N239K	possibly damaging	Het
Hsd3b5	T	A	3: 98,529,328 (GRCm39)	N101Y	probably damaging	Het
Idh2	G	A	7: 79,747,966 (GRCm39)	P245S	probably damaging	Het
Irx3	A	G	8: 92,525,530 (GRCm39)		probably benign	Het
Lilra5	A	T	7: 4,244,931 (GRCm39)	D234V	probably benign	Het
Lrfn5	G	A	12: 61,886,476 (GRCm39)	S88N	probably damaging	Het
Lrp2	A	T	2: 69,343,721 (GRCm39)	S879R	possibly damaging	Het
Lsm11	A	G	11: 45,824,781 (GRCm39)	S249P	probably benign	Het
Ltbp1	C	T	17: 75,534,187 (GRCm39)	A543V	possibly damaging	Het
Mbd1	GTCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGC	GTCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGC	18: 74,406,645 (GRCm39)			Het
Mier2	C	T	10: 79,376,990 (GRCm39)		probably benign	Het
Mup6	G	C	4: 60,004,093 (GRCm39)	G70A	probably benign	Het
Neb	A	G	2: 52,085,732 (GRCm39)	L5258P	probably damaging	Het
Nlrc5	G	A	8: 95,247,857 (GRCm39)		probably benign	Het
Nr6a1	A	T	2: 38,630,597 (GRCm39)	F207I	possibly damaging	Het
Or2y1	A	T	11: 49,385,632 (GRCm39)	T91S	probably benign	Het
Or5k17	A	T	16: 58,746,867 (GRCm39)	D22E	probably benign	Het
Or8b43	T	C	9: 38,360,731 (GRCm39)	C188R	probably damaging	Het
Osbp2	A	G	11: 3,665,191 (GRCm39)	V51A	possibly damaging	Het
Papln	G	T	12: 83,821,723 (GRCm39)	C317F	probably damaging	Het
Pdcd7	T	C	9: 65,265,904 (GRCm39)	S454P	probably damaging	Het
Pde4a	C	T	9: 21,116,597 (GRCm39)	T473I	probably damaging	Het
Peg10	CC	CCCCATCAGGC	6: 4,756,350 (GRCm39)		probably benign	Het
Peg10	C	CCCATCAGGA	6: 4,756,351 (GRCm39)		probably benign	Het
Peg3	G	T	7: 6,714,385 (GRCm39)	S279*	probably null	Het
Rbl1	A	G	2: 156,994,887 (GRCm39)	Y929H	probably damaging	Het
Rsf1	G	GACGGCGGCA	7: 97,229,116 (GRCm39)		probably benign	Het
Sall3	C	A	18: 81,017,590 (GRCm39)	E113*	probably null	Het
Scn5a	A	C	9: 119,359,089 (GRCm39)	F653V	probably damaging	Het
Selenok	T	A	14: 29,692,005 (GRCm39)	N14K	possibly damaging	Het
Slc22a20	T	C	19: 6,021,838 (GRCm39)	T426A	probably benign	Het
Slc4a2	T	A	5: 24,640,007 (GRCm39)	S563T	probably damaging	Het
Sspo	T	A	6: 48,464,889 (GRCm39)	S3798T	probably benign	Het
Stag3	G	T	5: 138,302,969 (GRCm39)	R63L	possibly damaging	Het
Stard9	A	T	2: 120,535,667 (GRCm39)	M3975L	probably benign	Het
Syne2	C	A	12: 75,956,040 (GRCm39)	T582K	probably damaging	Het
Synj1	G	A	16: 90,760,768 (GRCm39)	Q748*	probably null	Het
Tas2r109	T	C	6: 132,957,048 (GRCm39)	D294G	probably benign	Het
Tbl1xr1	C	T	3: 22,245,603 (GRCm39)	T203M	possibly damaging	Het
Tbl1xr1	T	A	3: 22,245,703 (GRCm39)		probably null	Het
Tcf7l2	A	G	19: 55,730,955 (GRCm39)	D19G	probably damaging	Het
Tecta	A	G	9: 42,248,633 (GRCm39)	V1923A	possibly damaging	Het
Tg	T	A	15: 66,560,740 (GRCm39)	M1034K	probably benign	Het
Ttf2	T	C	3: 100,876,941 (GRCm39)	E8G	possibly damaging	Het
Vps13b	T	A	15: 35,576,541 (GRCm39)	V983E	probably damaging	Het
Vps35l	A	G	7: 118,342,898 (GRCm39)	H32R	probably damaging	Het
Vwa2	T	C	19: 56,890,025 (GRCm39)	V210A	probably benign	Het
Xkr6	T	A	14: 64,057,093 (GRCm39)	Y335N	probably benign	Het
Zfp97	A	G	17: 17,365,437 (GRCm39)	H312R	probably damaging	Het

Other mutations in Adamtsl4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01475:Adamtsl4	APN	3	95,584,843 (GRCm39)	missense	probably benign	0.22
IGL01685:Adamtsl4	APN	3	95,591,905 (GRCm39)	missense	possibly damaging	0.93
IGL01707:Adamtsl4	APN	3	95,591,301 (GRCm39)	missense	probably benign	0.39
IGL02105:Adamtsl4	APN	3	95,587,374 (GRCm39)	missense	probably damaging	1.00
IGL02545:Adamtsl4	APN	3	95,590,684 (GRCm39)	nonsense	probably null
IGL03089:Adamtsl4	APN	3	95,584,556 (GRCm39)	missense	probably damaging	1.00
R0099:Adamtsl4	UTSW	3	95,591,449 (GRCm39)	missense	probably benign	0.00
R0718:Adamtsl4	UTSW	3	95,586,918 (GRCm39)	missense	possibly damaging	0.49
R0962:Adamtsl4	UTSW	3	95,591,798 (GRCm39)	nonsense	probably null
R1157:Adamtsl4	UTSW	3	95,590,971 (GRCm39)	missense	possibly damaging	0.88
R1434:Adamtsl4	UTSW	3	95,588,094 (GRCm39)	missense	probably damaging	1.00
R1486:Adamtsl4	UTSW	3	95,589,166 (GRCm39)	missense	probably benign	0.23
R1579:Adamtsl4	UTSW	3	95,592,807 (GRCm39)	start gained	probably benign
R1703:Adamtsl4	UTSW	3	95,584,924 (GRCm39)	missense	probably damaging	1.00
R1757:Adamtsl4	UTSW	3	95,585,252 (GRCm39)	missense	probably benign	0.00
R2018:Adamtsl4	UTSW	3	95,588,412 (GRCm39)	missense	probably damaging	1.00
R2108:Adamtsl4	UTSW	3	95,588,357 (GRCm39)	missense	probably damaging	1.00
R3889:Adamtsl4	UTSW	3	95,588,167 (GRCm39)	missense	probably damaging	1.00
R4062:Adamtsl4	UTSW	3	95,584,864 (GRCm39)	missense	probably benign	0.00
R4063:Adamtsl4	UTSW	3	95,584,864 (GRCm39)	missense	probably benign	0.00
R4124:Adamtsl4	UTSW	3	95,588,982 (GRCm39)	missense	probably benign	0.21
R4128:Adamtsl4	UTSW	3	95,588,982 (GRCm39)	missense	probably benign	0.21
R4432:Adamtsl4	UTSW	3	95,589,069 (GRCm39)	splice site	probably null
R4433:Adamtsl4	UTSW	3	95,589,069 (GRCm39)	splice site	probably null
R4643:Adamtsl4	UTSW	3	95,591,929 (GRCm39)	missense	possibly damaging	0.90
R4694:Adamtsl4	UTSW	3	95,587,055 (GRCm39)	missense	probably damaging	1.00
R4719:Adamtsl4	UTSW	3	95,586,896 (GRCm39)	critical splice donor site	probably null
R4929:Adamtsl4	UTSW	3	95,585,315 (GRCm39)	missense	probably damaging	1.00
R5044:Adamtsl4	UTSW	3	95,588,960 (GRCm39)	critical splice donor site	probably null
R5212:Adamtsl4	UTSW	3	95,584,980 (GRCm39)	missense	probably damaging	1.00
R5234:Adamtsl4	UTSW	3	95,588,230 (GRCm39)	missense	probably benign	0.00
R5268:Adamtsl4	UTSW	3	95,587,473 (GRCm39)	missense	probably damaging	0.98
R5473:Adamtsl4	UTSW	3	95,587,303 (GRCm39)	missense	probably damaging	0.98
R5509:Adamtsl4	UTSW	3	95,588,667 (GRCm39)	missense	probably benign	0.00
R5566:Adamtsl4	UTSW	3	95,592,765 (GRCm39)	critical splice donor site	probably null
R5891:Adamtsl4	UTSW	3	95,589,623 (GRCm39)	missense	possibly damaging	0.95
R5906:Adamtsl4	UTSW	3	95,588,094 (GRCm39)	missense	probably damaging	1.00
R6224:Adamtsl4	UTSW	3	95,589,039 (GRCm39)	missense	probably damaging	1.00
R6530:Adamtsl4	UTSW	3	95,588,364 (GRCm39)	missense	probably benign	0.00
R7199:Adamtsl4	UTSW	3	95,588,119 (GRCm39)	missense	probably benign	0.00
R8083:Adamtsl4	UTSW	3	95,591,711 (GRCm39)	missense	possibly damaging	0.76
R8251:Adamtsl4	UTSW	3	95,591,884 (GRCm39)	missense	probably damaging	1.00
R8701:Adamtsl4	UTSW	3	95,592,276 (GRCm39)	missense	possibly damaging	0.94
R8723:Adamtsl4	UTSW	3	95,584,426 (GRCm39)	missense	possibly damaging	0.80
R8724:Adamtsl4	UTSW	3	95,584,426 (GRCm39)	missense	possibly damaging	0.80
R8725:Adamtsl4	UTSW	3	95,584,426 (GRCm39)	missense	possibly damaging	0.80
R8786:Adamtsl4	UTSW	3	95,592,784 (GRCm39)	start codon destroyed	probably null	0.98
R9218:Adamtsl4	UTSW	3	95,588,404 (GRCm39)	nonsense	probably null
R9257:Adamtsl4	UTSW	3	95,588,575 (GRCm39)	missense	probably damaging	1.00
R9632:Adamtsl4	UTSW	3	95,589,090 (GRCm39)	missense	probably damaging	0.96
R9749:Adamtsl4	UTSW	3	95,591,457 (GRCm39)	missense	probably benign
X0028:Adamtsl4	UTSW	3	95,584,274 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CCGTGGTCCAGGATACAGAATC -3'
(R):5'- GAGTCCTTCCACAAAGCCTC -3'

Sequencing Primer
(F):5'- TATATAGAGAACAGGGATTTGGGCTG -3'
(R):5'- AGCCTCCAGCCCTTCAG -3'

Posted On

2018-09-12