Mutagenetix > Incidental Mutation

Incidental Mutation 'R5268:Adamtsl4'

399894

Institutional Source

Beutler Lab

Gene Symbol

Adamtsl4

Ensembl Gene

ENSMUSG00000015850

Gene Name

ADAMTS-like 4

Synonyms

Tsrc1

MMRRC Submission

042860-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5268 (G1)

Quality Score

150

Status

Not validated

Chromosome

Chromosomal Location

95583511-95595228 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 95587473 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 701 (R701L)

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: R701L

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000015994
Gene: ENSMUSG00000015850
AA Change: R701L

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: R701L

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113424
Gene: ENSMUSG00000015850
AA Change: R701L

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

noncoding transcript
Transcript: ENSMUST00000124410

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151054

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.9%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm2	A	G	3: 59,659,444 (GRCm39)	E299G	probably damaging	Het
Adgrf5	T	C	17: 43,761,890 (GRCm39)	V1195A	probably damaging	Het
Agpat5	A	G	8: 18,931,878 (GRCm39)	T333A	possibly damaging	Het
Aspm	G	T	1: 139,392,033 (GRCm39)	G795C	probably damaging	Het
Car4	C	A	11: 84,856,626 (GRCm39)	Q305K	probably benign	Het
Catsperg1	T	C	7: 28,894,672 (GRCm39)	N612S	probably benign	Het
Cdc5l	G	A	17: 45,726,511 (GRCm39)	R354W	probably damaging	Het
Cdh9	G	A	15: 16,851,099 (GRCm39)	V623I	probably benign	Het
Cfap65	A	G	1: 74,964,061 (GRCm39)	V629A	probably benign	Het
Chd1	G	A	17: 15,956,005 (GRCm39)	V535I	probably damaging	Het
Col12a1	A	G	9: 79,585,329 (GRCm39)	V1316A	probably damaging	Het
Col6a3	A	T	1: 90,712,965 (GRCm39)	D1721E	unknown	Het
Cop1	T	A	1: 159,154,734 (GRCm39)	F647L	probably damaging	Het
Corin	A	C	5: 72,500,362 (GRCm39)	S421A	probably damaging	Het
Crb2	T	C	2: 37,680,833 (GRCm39)	V587A	probably damaging	Het
Ctc1	T	A	11: 68,920,636 (GRCm39)	V646E	possibly damaging	Het
Cyp2a12	A	T	7: 26,730,643 (GRCm39)	M203L	probably benign	Het
Dcdc2c	T	A	12: 28,566,656 (GRCm39)	K336M	possibly damaging	Het
Ddx39a	G	A	8: 84,448,950 (GRCm39)	R275H	probably benign	Het
Dennd2b	A	G	7: 109,156,519 (GRCm39)	L77P	probably benign	Het
Des	A	G	1: 75,339,572 (GRCm39)	N310S	possibly damaging	Het
Dlk1	C	A	12: 109,425,764 (GRCm39)	S212R	probably benign	Het
Dnajc5b	A	G	3: 19,633,224 (GRCm39)	E149G	probably benign	Het
Dpep1	A	T	8: 123,920,828 (GRCm39)	I3F	probably benign	Het
Eml6	T	A	11: 29,753,108 (GRCm39)	R934S	probably benign	Het
Ercc6l2	T	C	13: 64,016,925 (GRCm39)	L676P	possibly damaging	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Frem2	T	A	3: 53,560,575 (GRCm39)	I1311F	probably damaging	Het
Gldc	T	A	19: 30,123,125 (GRCm39)	M257L	probably damaging	Het
Gm8674	T	G	13: 50,055,390 (GRCm39)		noncoding transcript	Het
Gnai3	C	T	3: 108,030,857 (GRCm39)		probably null	Het
Gtf3a	A	G	5: 146,891,965 (GRCm39)	D300G	probably damaging	Het
Haus3	A	T	5: 34,323,449 (GRCm39)	V387D	probably damaging	Het
Hpf1	T	A	8: 61,346,768 (GRCm39)	F28I	possibly damaging	Het
Iars1	A	G	13: 49,843,967 (GRCm39)	D147G	probably damaging	Het
Ibtk	A	T	9: 85,625,743 (GRCm39)	D2E	probably benign	Het
Ift140	T	A	17: 25,239,601 (GRCm39)	I86K	possibly damaging	Het
Igf2bp2	T	A	16: 21,898,241 (GRCm39)	I235F	probably damaging	Het
Ighv3-8	G	T	12: 114,286,252 (GRCm39)	A30E	probably benign	Het
Kcnq5	T	A	1: 21,575,949 (GRCm39)	T252S	probably damaging	Het
Lrrc4b	A	T	7: 44,110,787 (GRCm39)	N220Y	probably damaging	Het
Ltbr	G	A	6: 125,289,757 (GRCm39)	R146W	probably damaging	Het
Mamdc4	T	C	2: 25,454,702 (GRCm39)	T1037A	possibly damaging	Het
Mbd5	A	T	2: 49,162,106 (GRCm39)	I863F	possibly damaging	Het
Muc4	T	A	16: 32,570,484 (GRCm39)	S515T	possibly damaging	Het
Mylk4	T	A	13: 32,892,864 (GRCm39)		probably null	Het
Neu4	G	A	1: 93,952,669 (GRCm39)	R346H	probably benign	Het
Nxpe5	T	A	5: 138,238,200 (GRCm39)	Y253*	probably null	Het
Olfml2b	A	T	1: 170,477,330 (GRCm39)	E155V	probably damaging	Het
Or14a258	A	G	7: 86,034,867 (GRCm39)	*334Q	probably null	Het
Or6a2	T	A	7: 106,600,111 (GRCm39)	N319Y	probably benign	Het
Or8a1b	T	A	9: 37,623,300 (GRCm39)	I92F	probably damaging	Het
Pamr1	G	A	2: 102,417,029 (GRCm39)	A114T	probably damaging	Het
Pdzd2	T	A	15: 12,592,263 (GRCm39)	N127I	probably damaging	Het
Pglyrp4	C	T	3: 90,634,271 (GRCm39)	L5F	probably damaging	Het
Plce1	T	A	19: 38,747,279 (GRCm39)	S1667T	possibly damaging	Het
Qser1	A	T	2: 104,617,776 (GRCm39)	V1012E	possibly damaging	Het
R3hdm4	C	T	10: 79,748,292 (GRCm39)	E162K	possibly damaging	Het
Rcn3	A	T	7: 44,736,203 (GRCm39)	D168E	probably damaging	Het
Rdh1	T	G	10: 127,595,832 (GRCm39)	V9G	possibly damaging	Het
Rin2	A	G	2: 145,686,680 (GRCm39)	T70A	probably benign	Het
Rnf207	T	C	4: 152,398,346 (GRCm39)	D276G	probably damaging	Het
Rtel1	C	T	2: 180,982,354 (GRCm39)	S368L	probably benign	Het
Slc15a5	C	A	6: 138,056,751 (GRCm39)	C55F	probably damaging	Het
Slc36a4	T	C	9: 15,638,212 (GRCm39)	F213L	possibly damaging	Het
Snhg16	G	T	11: 116,562,582 (GRCm39)	M18I	probably benign	Het
Spata25	C	T	2: 164,669,954 (GRCm39)	G19D	probably damaging	Het
Tas2r102	A	T	6: 132,739,360 (GRCm39)	L89F	probably damaging	Het
Tbc1d1	A	G	5: 64,481,910 (GRCm39)	K704E	probably damaging	Het
Tert	T	G	13: 73,775,473 (GRCm39)	S75A	probably damaging	Het
Tiparp	T	A	3: 65,454,986 (GRCm39)	L195Q	possibly damaging	Het
Tmem205	A	C	9: 21,837,380 (GRCm39)	Y57*	probably null	Het
Tomm22	A	G	15: 79,555,428 (GRCm39)	R5G	probably benign	Het
Trav10	A	T	14: 53,743,515 (GRCm39)	S39C	probably benign	Het
Trav6-2	T	A	14: 52,905,205 (GRCm39)	N75K	probably benign	Het
Trio	T	C	15: 27,748,372 (GRCm39)	S2427G	probably benign	Het
Ttc41	C	A	10: 86,580,342 (GRCm39)	H763N	possibly damaging	Het
Usp29	A	T	7: 6,964,583 (GRCm39)	N142I	probably damaging	Het
Vmn1r204	G	T	13: 22,740,912 (GRCm39)	W181L	probably damaging	Het
Vmn2r76	G	A	7: 85,875,267 (GRCm39)	T570M	probably damaging	Het
Wdr90	A	G	17: 26,069,819 (GRCm39)	L1173P	probably damaging	Het
Wnt9a	T	A	11: 59,219,396 (GRCm39)	C141S	probably damaging	Het
Zfp462	A	T	4: 55,012,299 (GRCm39)	I1422L	probably benign	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
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
R6861:Adamtsl4	UTSW	3	95,588,194 (GRCm39)	missense	probably damaging	1.00
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'- AGCCTACTTCTCAAGGGTCC -3'
(R):5'- TAGATTAGAAAGGTTCACACCCCG -3'

Sequencing Primer
(F):5'- AGGGTCCTCCTCACCTGG -3'
(R):5'- GTGTGAAATGACTCCTCTCC -3'

Posted On

2016-07-06