Mutagenetix > Incidental Mutation

Incidental Mutation 'R5891:Adamtsl4'

457156

Institutional Source

Beutler Lab

Gene Symbol

Adamtsl4

Ensembl Gene

ENSMUSG00000015850

Gene Name

ADAMTS-like 4

Synonyms

Tsrc1

MMRRC Submission

044092-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5891 (G1)

Quality Score

199

Status

Validated

Chromosome

Chromosomal Location

95583511-95595228 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 95589623 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 387 (R387L)

Ref Sequence

ENSEMBL: ENSMUSP00000113424 (fasta)

Gene Model

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

AlphaFold

Q80T21

Predicted Effect

possibly damaging
Transcript: ENSMUST00000015994
AA Change: R387L

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000015994
Gene: ENSMUSG00000015850
AA Change: R387L

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

possibly damaging
Transcript: ENSMUST00000117782
AA Change: R387L

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000113424
Gene: ENSMUSG00000015850
AA Change: R387L

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

Meta Mutation Damage Score

0.1860

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.9%

Validation Efficiency

96% (85/89)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	A	T	16: 56,426,496 (GRCm39)	T504S	probably damaging	Het
Adgb	G	A	10: 10,253,591 (GRCm39)	Q1224*	probably null	Het
Ankrd40	T	A	11: 94,225,689 (GRCm39)	F240Y	probably damaging	Het
Asnsd1	A	T	1: 53,387,136 (GRCm39)	Y164N	probably benign	Het
Atf7ip	A	T	6: 136,536,975 (GRCm39)	E69D	possibly damaging	Het
Atm	T	C	9: 53,408,459 (GRCm39)	T1129A	probably benign	Het
Atosa	C	G	9: 74,911,668 (GRCm39)	C46W	probably damaging	Het
AU021092	T	C	16: 5,029,995 (GRCm39)	D340G	probably benign	Het
Baz2a	T	A	10: 127,957,191 (GRCm39)	I978N	probably damaging	Het
BC034090	T	C	1: 155,108,793 (GRCm39)		probably benign	Het
Bcl9	A	G	3: 97,116,204 (GRCm39)	L830P	probably damaging	Het
Bicral	T	C	17: 47,112,155 (GRCm39)	N1015S	probably benign	Het
Ccdc9b	T	A	2: 118,591,864 (GRCm39)	D92V	probably damaging	Het
Ceacam3	C	A	7: 16,885,718 (GRCm39)	T107N	probably damaging	Het
Cep83	T	C	10: 94,561,537 (GRCm39)	V109A	probably benign	Het
Ces1e	A	G	8: 93,929,894 (GRCm39)	V463A	possibly damaging	Het
Ciao1	A	G	2: 127,089,054 (GRCm39)	V55A	probably benign	Het
Col19a1	T	C	1: 24,328,806 (GRCm39)	E900G	probably damaging	Het
Commd3	A	G	2: 18,678,626 (GRCm39)		probably benign	Het
Coro1c	A	G	5: 113,988,872 (GRCm39)	I157T	probably damaging	Het
Cplane1	A	G	15: 8,218,073 (GRCm39)	I828V	probably benign	Het
Ctso	T	A	3: 81,861,561 (GRCm39)	F311L	probably benign	Het
Cxcl10	A	G	5: 92,496,083 (GRCm39)		probably benign	Het
Daam1	C	A	12: 71,990,923 (GRCm39)	T179N	unknown	Het
Ddx24	T	C	12: 103,390,317 (GRCm39)	K225E	probably damaging	Het
Dnajc16	T	C	4: 141,502,703 (GRCm39)	T278A	probably benign	Het
Dnajc2	A	T	5: 21,966,709 (GRCm39)	N345K	possibly damaging	Het
Dnpep	G	T	1: 75,288,456 (GRCm39)	Q395K	probably benign	Het
Dync1h1	T	C	12: 110,580,654 (GRCm39)		probably null	Het
Exoc1	A	G	5: 76,689,991 (GRCm39)	D177G	probably damaging	Het
Fam135b	C	T	15: 71,397,652 (GRCm39)	R136H	probably damaging	Het
Filip1	T	G	9: 79,727,142 (GRCm39)	L492F	possibly damaging	Het
Flvcr2	A	T	12: 85,843,002 (GRCm39)	I359F	possibly damaging	Het
Gmcl1	A	G	6: 86,684,425 (GRCm39)	W366R	probably damaging	Het
Htt	A	G	5: 35,028,167 (GRCm39)	T1808A	possibly damaging	Het
Ighv5-4	C	A	12: 113,561,249 (GRCm39)	R57L	probably damaging	Het
Il12rb2	A	T	6: 67,337,674 (GRCm39)	I69N	probably damaging	Het
Irf5	A	T	6: 29,529,424 (GRCm39)		probably benign	Het
Kif13b	T	G	14: 65,025,854 (GRCm39)		probably null	Het
Klkb1	T	A	8: 45,723,703 (GRCm39)	T571S	probably benign	Het
Mapkbp1	G	T	2: 119,854,413 (GRCm39)	E1337*	probably null	Het
Met	A	G	6: 17,491,538 (GRCm39)	D100G	probably benign	Het
Mgam	T	A	6: 40,721,282 (GRCm39)	D183E	probably benign	Het
Mrgprb13	T	C	7: 47,962,007 (GRCm39)		noncoding transcript	Het
Mrgprx2	T	C	7: 48,131,994 (GRCm39)	T275A	probably benign	Het
Mroh2a	C	A	1: 88,169,337 (GRCm39)	Q671K	possibly damaging	Het
Nckipsd	T	A	9: 108,685,808 (GRCm39)	S42R	probably damaging	Het
Nlrp12	T	A	7: 3,267,933 (GRCm39)		probably benign	Het
Or12j2	C	T	7: 139,916,513 (GRCm39)	T246I	probably benign	Het
Or12k8	T	A	2: 36,974,990 (GRCm39)	M257L	probably benign	Het
Or4k47	A	T	2: 111,451,778 (GRCm39)	L214M	probably damaging	Het
Or5p5	C	T	7: 107,414,387 (GRCm39)	P199S	probably damaging	Het
Otoa	T	A	7: 120,731,583 (GRCm39)		probably null	Het
Pfkm	T	A	15: 98,020,571 (GRCm39)	C233*	probably null	Het
Pikfyve	A	G	1: 65,241,896 (GRCm39)	Y212C	probably damaging	Het
Ptprq	T	A	10: 107,412,756 (GRCm39)	D1781V	possibly damaging	Het
Pttg1ip	A	G	10: 77,418,274 (GRCm39)		probably benign	Het
Rab6a	T	A	7: 100,288,454 (GRCm39)		probably null	Het
Rbm11	C	T	16: 75,395,725 (GRCm39)	A132V	possibly damaging	Het
Septin4	G	T	11: 87,479,750 (GRCm39)		probably benign	Het
Serpinb8	A	G	1: 107,533,575 (GRCm39)	E210G	probably damaging	Het
Sertad2	G	A	11: 20,597,884 (GRCm39)	G27S	probably benign	Het
Slco5a1	A	G	1: 13,060,626 (GRCm39)	F32L	probably benign	Het
Smad2	A	G	18: 76,433,046 (GRCm39)	E326G	probably damaging	Het
Sp9	T	A	2: 73,104,595 (GRCm39)	L383Q	probably damaging	Het
Stx11	T	C	10: 12,817,559 (GRCm39)	N55S	probably damaging	Het
Tbc1d15	T	A	10: 115,056,213 (GRCm39)	Q253L	probably benign	Het
Tcf7l1	T	A	6: 72,614,034 (GRCm39)		probably benign	Het
Tdrd9	T	A	12: 112,009,153 (GRCm39)	S1020T	probably damaging	Het
Tead3	A	T	17: 28,560,339 (GRCm39)	D88E	probably damaging	Het
Tnrc18	A	G	5: 142,800,926 (GRCm39)	S11P	probably damaging	Homo
Trpc3	G	T	3: 36,725,171 (GRCm39)	D268E	probably damaging	Het
Ttn	A	G	2: 76,576,085 (GRCm39)	V23190A	possibly damaging	Het
Ubr4	T	A	4: 139,135,937 (GRCm39)	Y908*	probably null	Het
Urb2	G	T	8: 124,757,595 (GRCm39)	V1101L	possibly damaging	Het
Usp9y	A	T	Y: 1,341,535 (GRCm39)	D1375E	probably benign	Het
Zcchc7	T	C	4: 44,895,838 (GRCm39)	L262P	probably damaging	Het
Zdhhc7	T	A	8: 120,811,639 (GRCm39)	H188L	probably benign	Het
Zfp518a	T	A	19: 40,900,877 (GRCm39)	C269S	probably damaging	Het
Zfp933	T	C	4: 147,911,231 (GRCm39)	K90E	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
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
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'- CAGAAACTTTCCCTTTGGCCAC -3'
(R):5'- ATCGTAAGCGTGGGAAGTTG -3'

Sequencing Primer
(F):5'- CACTCTTGTGGCAATTAAAGGAGTG -3'
(R):5'- GGGAAGTTGCCCCTCCC -3'

Posted On

2017-02-15