Mutagenetix > Incidental Mutation

Incidental Mutation 'R7199:Adamtsl4'

560144

Institutional Source

Beutler Lab

Gene Symbol

Adamtsl4

Ensembl Gene

ENSMUSG00000015850

Gene Name

ADAMTS-like 4

Synonyms

Tsrc1

MMRRC Submission

045277-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7199 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

95583511-95595228 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 95588119 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 623 (T623A)

Ref Sequence

ENSEMBL: ENSMUSP00000015994 (fasta)

Gene Model

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

AlphaFold

Q80T21

Predicted Effect

probably benign
Transcript: ENSMUST00000015994
AA Change: T623A

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

SMART Domains

Protein: ENSMUSP00000015994
Gene: ENSMUSG00000015850
AA Change: T623A

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 benign
Transcript: ENSMUST00000117782
AA Change: T623A

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

SMART Domains

Protein: ENSMUSP00000113424
Gene: ENSMUSG00000015850
AA Change: T623A

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: 100.0%
10x: 99.7%
20x: 99.1%

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310034C09Rik	A	G	16: 88,555,902 (GRCm39)	T39A	probably damaging	Het
Abca3	G	A	17: 24,596,681 (GRCm39)	G378D	probably damaging	Het
Abtb2	T	C	2: 103,397,565 (GRCm39)	V165A	possibly damaging	Het
Ache	A	G	5: 137,288,504 (GRCm39)	E70G	probably damaging	Het
Ahdc1	G	A	4: 132,791,935 (GRCm39)	V1059I	probably benign	Het
Ajuba	G	A	14: 54,810,915 (GRCm39)	Q357*	probably null	Het
Ano7	A	T	1: 93,330,700 (GRCm39)	D54V		Het
Apob	A	T	12: 8,055,072 (GRCm39)	D1357V	probably damaging	Het
Atad2b	T	A	12: 5,067,992 (GRCm39)	Y997N	probably damaging	Het
Bhlhe22	C	A	3: 18,110,006 (GRCm39)	T352K	probably damaging	Het
Bsn	T	C	9: 107,992,533 (GRCm39)	E1073G	probably damaging	Het
Bzw2	G	A	12: 36,180,054 (GRCm39)	R58*	probably null	Het
C7	G	T	15: 5,023,725 (GRCm39)	S694R	probably benign	Het
Cbr2	T	A	11: 120,621,087 (GRCm39)	H170L	probably benign	Het
Cdcp3	G	A	7: 130,837,641 (GRCm39)	W512*	probably null	Het
Cgas	C	A	9: 78,340,315 (GRCm39)	K472N	probably benign	Het
Ckap2l	T	C	2: 129,126,975 (GRCm39)	N401S	probably benign	Het
Cldn1	A	G	16: 26,190,346 (GRCm39)	F11L	probably benign	Het
Cmtr1	A	G	17: 29,895,174 (GRCm39)	T118A	probably benign	Het
Cog6	T	C	3: 52,890,610 (GRCm39)	E610G	probably benign	Het
Col3a1	G	T	1: 45,371,301 (GRCm39)	A451S	probably null	Het
Cr1l	T	A	1: 194,799,878 (GRCm39)	R265S	probably benign	Het
Dapk1	T	C	13: 60,902,024 (GRCm39)	I951T	probably benign	Het
Dnah9	T	C	11: 66,009,770 (GRCm39)	N706D	probably benign	Het
Dpysl5	A	T	5: 30,940,539 (GRCm39)	T239S	probably benign	Het
Ect2l	T	A	10: 18,004,894 (GRCm39)	Y913F	probably benign	Het
Elf5	C	A	2: 103,269,641 (GRCm39)	A74D	possibly damaging	Het
Erap1	T	C	13: 74,814,258 (GRCm39)	V399A	probably benign	Het
Ercc4	A	G	16: 12,965,657 (GRCm39)	D763G	probably damaging	Het
Fam222b	T	A	11: 78,045,683 (GRCm39)	C415S	possibly damaging	Het
Fat4	A	C	3: 39,031,511 (GRCm39)	N2432T	probably damaging	Het
Fbn2	G	T	18: 58,186,833 (GRCm39)	C1689*	probably null	Het
Frrs1l	T	A	4: 56,972,282 (GRCm39)	T140S	probably damaging	Het
Gm5141	A	T	13: 62,924,877 (GRCm39)	H10Q	possibly damaging	Het
Inafm1	A	T	7: 16,007,079 (GRCm39)	L46Q	probably damaging	Het
Irak2	T	C	6: 113,650,045 (GRCm39)	L260P	probably damaging	Het
Kat2b	T	C	17: 53,977,706 (GRCm39)	L751P	probably damaging	Het
Kcnh1	T	A	1: 192,019,913 (GRCm39)	I413N	probably benign	Het
Kirrel1	T	C	3: 86,990,695 (GRCm39)	D709G	probably benign	Het
Lama4	T	C	10: 38,956,536 (GRCm39)	V1153A	possibly damaging	Het
Lipg	A	T	18: 75,088,655 (GRCm39)	F98L	probably benign	Het
Lman1	T	C	18: 66,127,936 (GRCm39)	E236G	probably damaging	Het
Lrp1	T	A	10: 127,409,325 (GRCm39)	D1598V	probably damaging	Het
Lrrc71	T	A	3: 87,650,384 (GRCm39)	N230Y	probably damaging	Het
Maneal	T	C	4: 124,750,983 (GRCm39)	S258G	possibly damaging	Het
Marchf10	T	A	11: 105,281,532 (GRCm39)	E251V	probably damaging	Het
Mpdz	A	G	4: 81,215,570 (GRCm39)	I1484T	probably damaging	Het
Mtcl1	T	A	17: 66,647,534 (GRCm39)	N1882I	probably benign	Het
Neb	G	A	2: 52,110,212 (GRCm39)	A212V	probably benign	Het
Obscn	G	A	11: 58,903,672 (GRCm39)	S7434L	probably benign	Het
Or14j8	A	C	17: 38,263,048 (GRCm39)	I289S	probably damaging	Het
Or1ad8	T	A	11: 50,898,223 (GRCm39)	C141*	probably null	Het
Or1j12	A	T	2: 36,342,872 (GRCm39)	I92F	probably damaging	Het
Or4k47	T	C	2: 111,451,538 (GRCm39)	M294V	probably benign	Het
Or8g2b	A	G	9: 39,750,753 (GRCm39)	M8V	probably benign	Het
Orc6	T	C	8: 86,029,590 (GRCm39)		probably null	Het
Otogl	T	G	10: 107,710,394 (GRCm39)	E565A	possibly damaging	Het
Papss1	A	G	3: 131,290,899 (GRCm39)	Q214R	probably benign	Het
Pck2	G	A	14: 55,786,169 (GRCm39)	V653M	probably benign	Het
Plxna4	G	A	6: 32,192,113 (GRCm39)	Q826*	probably null	Het
Pms1	T	A	1: 53,295,889 (GRCm39)	T161S	probably benign	Het
Prkar2a	C	A	9: 108,617,669 (GRCm39)	N242K	probably damaging	Het
Prss1	T	A	6: 41,439,690 (GRCm39)	I141N	probably damaging	Het
Puf60	A	G	15: 75,943,717 (GRCm39)	V235A	probably damaging	Het
Rapgef6	T	A	11: 54,437,252 (GRCm39)	F65Y	probably benign	Het
Rasgef1b	T	C	5: 99,447,898 (GRCm39)	E104G	unknown	Het
Rcn3	T	C	7: 44,734,333 (GRCm39)	Y225C	probably damaging	Het
Rhot1	G	C	11: 80,137,560 (GRCm39)	W354S	probably damaging	Het
Rp1	T	C	1: 4,417,513 (GRCm39)	S1200G	possibly damaging	Het
Scaper	T	A	9: 55,745,460 (GRCm39)	K603*	probably null	Het
Selenbp1	G	A	3: 94,851,745 (GRCm39)	V429I	possibly damaging	Het
Setd5	T	G	6: 113,098,099 (GRCm39)	S713A	probably benign	Het
Shank1	T	C	7: 44,002,564 (GRCm39)	Y1428H	possibly damaging	Het
Slc11a1	G	T	1: 74,422,830 (GRCm39)	W361L	possibly damaging	Het
Spta1	A	T	1: 174,050,837 (GRCm39)	D1772V	possibly damaging	Het
St8sia6	T	C	2: 13,661,721 (GRCm39)	H370R	probably damaging	Het
Stkld1	A	T	2: 26,842,726 (GRCm39)	D566V	probably damaging	Het
Tango6	T	C	8: 107,415,791 (GRCm39)	V204A	probably benign	Het
Tdrd5	G	A	1: 156,129,293 (GRCm39)	A139V	probably damaging	Het
Tenm2	A	T	11: 36,062,263 (GRCm39)	V534E	probably damaging	Het
Tfip11	A	T	5: 112,479,044 (GRCm39)	Q204L	probably benign	Het
Tlr4	A	T	4: 66,759,430 (GRCm39)	Q741L	probably damaging	Het
Tmem18	A	G	12: 30,638,654 (GRCm39)	M111V	probably benign	Het
Togaram1	A	G	12: 65,042,292 (GRCm39)	N1167S	probably benign	Het
Trappc3	C	T	4: 126,168,945 (GRCm39)	A145V	possibly damaging	Het
Trbj2-3	T	C	6: 41,520,176 (GRCm39)	F7S	probably damaging	Het
Vinac1	A	G	2: 128,880,238 (GRCm39)	S563P		Het
Vmn1r212	T	A	13: 23,067,731 (GRCm39)	M201L	probably benign	Het
Xaf1	C	A	11: 72,194,201 (GRCm39)	C27*	probably null	Het
Zeb1	T	C	18: 5,767,703 (GRCm39)	V738A	probably benign	Het
Zfp524	A	T	7: 5,020,883 (GRCm39)	H137L	probably damaging	Het
Zfyve19	A	T	2: 119,047,118 (GRCm39)	H367L	probably damaging	Het
Zim1	G	A	7: 6,680,872 (GRCm39)	Q264*	probably null	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
R6861:Adamtsl4	UTSW	3	95,588,194 (GRCm39)	missense	probably damaging	1.00
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'- GCCCCGTTTCAATGAAATCCC -3'
(R):5'- TGGTAAAACTAGGATCCCCAGACC -3'

Sequencing Primer
(F):5'- GTTTCAATGAAATCCCAGACATAGGG -3'
(R):5'- TAGGATCCCCAGACCCAGGAG -3'

Posted On

2019-06-26