Mutagenetix > Incidental Mutation

Incidental Mutation 'R8701:Adamtsl4'

669045

Institutional Source

Beutler Lab

Gene Symbol

Adamtsl4

Ensembl Gene

ENSMUSG00000015850

Gene Name

ADAMTS-like 4

Synonyms

Tsrc1

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8701 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

95676201-95687917 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 95684966 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 24 (D24V)

Ref Sequence

ENSEMBL: ENSMUSP00000015994 (fasta)

Gene Model

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

AlphaFold

Q80T21

Predicted Effect

possibly damaging
Transcript: ENSMUST00000015994
AA Change: D24V

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000015994
Gene: ENSMUSG00000015850
AA Change: D24V

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: D24V

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000113424
Gene: ENSMUSG00000015850
AA Change: D24V

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

possibly damaging
Transcript: ENSMUST00000148854
AA Change: D24V

PolyPhen 2 Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000120844
Gene: ENSMUSG00000015850
AA Change: D24V

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: 99.7%
20x: 98.8%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931408C20Rik	A	T	1: 26,685,445	V218D	probably benign	Het
Abcc4	T	C	14: 118,599,373	I659V	probably benign	Het
Agtr1b	A	T	3: 20,316,092	F117I	probably damaging	Het
Aldh3b2	A	G	19: 3,978,448	E116G	probably damaging	Het
Alox5	T	A	6: 116,413,826	I455F	possibly damaging	Het
Arnt	C	T	3: 95,493,765	S675F	possibly damaging	Het
C330027C09Rik	T	A	16: 49,007,141	Y456*	probably null	Het
Camkv	A	G	9: 107,948,041	T414A	possibly damaging	Het
Cd209c	C	T	8: 3,945,892	R6H	probably benign	Het
Cnr1	A	G	4: 33,944,739	I376V	probably benign	Het
Cyp2j12	T	A	4: 96,121,573	K183M	possibly damaging	Het
Dact3	G	T	7: 16,885,276	R232L	probably damaging	Het
Dlg5	G	A	14: 24,176,700	T378M	probably benign	Het
Dnah10	T	A	5: 124,726,847	D79E	probably benign	Het
Dsc1	A	T	18: 20,107,682	Y195*	probably null	Het
Elovl1	A	T	4: 118,430,510	M1L	probably benign	Het
Fam107a	A	G	14: 8,298,755	F124L	probably damaging	Het
Fam219a	A	G	4: 41,520,283	M155T	probably damaging	Het
Gm28308	C	G	6: 52,163,450		probably benign	Het
Gpr153	C	T	4: 152,279,101		probably benign	Het
Gtf2ird2	T	A	5: 134,216,235	I445N	probably damaging	Het
Gzmb	A	T	14: 56,260,360	V141E	probably benign	Het
Hmcn1	A	T	1: 150,755,257	M930K	probably benign	Het
Hunk	T	A	16: 90,386,610	F52Y	probably damaging	Het
Il18rap	A	G	1: 40,539,341	E304G	probably benign	Het
Klk14	A	G	7: 43,694,142	S133G	possibly damaging	Het
Man2b1	T	C	8: 85,095,153	S695P	probably damaging	Het
Mccc1	A	T	3: 35,995,784	D86E	probably benign	Het
Mcu	T	A	10: 59,467,653	I121F	probably damaging	Het
Mlxipl	T	C	5: 135,107,191	F90S	possibly damaging	Het
Muc2	A	G	7: 141,695,607	D536G	probably damaging	Het
Naa11	T	C	5: 97,391,958	S114G	possibly damaging	Het
Ncaph	T	C	2: 127,106,138	K676E	probably benign	Het
Neurl2	C	T	2: 164,833,134	D103N	probably benign	Het
Nup210l	T	C	3: 90,122,814	M278T	probably benign	Het
Olfr1192-ps1	A	G	2: 88,652,487	I112V	possibly damaging	Het
Olfr550	A	T	7: 102,578,692	M66L	possibly damaging	Het
Olfr897-ps1	A	T	9: 38,309,438	L214F	unknown	Het
Olfr967	A	T	9: 39,750,914	H176L	probably damaging	Het
Olfr981	A	G	9: 40,022,519	N42S	probably damaging	Het
Pcdh20	A	T	14: 88,468,413	Y484N	possibly damaging	Het
Pkhd1l1	A	G	15: 44,574,683	Y3598C	probably damaging	Het
Plcg2	T	A	8: 117,581,677	L336Q	probably damaging	Het
Ppp1r8	T	C	4: 132,830,642	D207G	possibly damaging	Het
Prdm13	C	T	4: 21,678,615	C625Y	probably damaging	Het
Ptcd3	T	C	6: 71,885,511	D480G	possibly damaging	Het
Rbm39	T	A	2: 156,161,587	K291M	probably damaging	Het
Repin1	G	T	6: 48,597,345	E403*	probably null	Het
Rnf220	T	C	4: 117,489,993	H74R	probably damaging	Het
Sp6	A	T	11: 97,022,264	T268S	probably damaging	Het
Sphk2	A	T	7: 45,710,825	V585E	probably damaging	Het
Syne1	G	A	10: 5,205,026	Q5638*	probably null	Het
Tas1r3	C	T	4: 155,861,046	V573I	probably benign	Het
Tdrd1	T	C	19: 56,851,484	S659P	possibly damaging	Het
Tead4	T	A	6: 128,242,566	K237N	probably damaging	Het
Tex24	T	A	8: 27,345,124	C227S	probably benign	Het
Tom1	A	T	8: 75,052,168	T174S	probably benign	Het
Tpm3	C	T	3: 90,087,680	R168C	possibly damaging	Het
Trpv3	A	G	11: 73,278,936	E111G	possibly damaging	Het
Unc80	A	G	1: 66,638,032	D2040G	possibly damaging	Het
Usp47	A	G	7: 112,093,195	T955A	probably damaging	Het
Vmn2r11	G	A	5: 109,047,690	A590V	probably damaging	Het
Wisp2	G	T	2: 163,828,866	G98W	probably damaging	Het
Zfp112	A	G	7: 24,125,740	R382G	probably damaging	Het
Zfp606	T	A	7: 12,481,098	D84E	unknown	Het

Other mutations in Adamtsl4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01475:Adamtsl4	APN	3	95677533	missense	probably benign	0.22
IGL01685:Adamtsl4	APN	3	95684595	missense	possibly damaging	0.93
IGL01707:Adamtsl4	APN	3	95683991	missense	probably benign	0.39
IGL02105:Adamtsl4	APN	3	95680064	missense	probably damaging	1.00
IGL02545:Adamtsl4	APN	3	95683374	nonsense	probably null
IGL03089:Adamtsl4	APN	3	95677246	missense	probably damaging	1.00
R0099:Adamtsl4	UTSW	3	95684139	missense	probably benign	0.00
R0718:Adamtsl4	UTSW	3	95679608	missense	possibly damaging	0.49
R0962:Adamtsl4	UTSW	3	95684488	nonsense	probably null
R1157:Adamtsl4	UTSW	3	95683661	missense	possibly damaging	0.88
R1434:Adamtsl4	UTSW	3	95680784	missense	probably damaging	1.00
R1486:Adamtsl4	UTSW	3	95681856	missense	probably benign	0.23
R1579:Adamtsl4	UTSW	3	95685497	start gained	probably benign
R1703:Adamtsl4	UTSW	3	95677614	missense	probably damaging	1.00
R1757:Adamtsl4	UTSW	3	95677942	missense	probably benign	0.00
R2018:Adamtsl4	UTSW	3	95681102	missense	probably damaging	1.00
R2108:Adamtsl4	UTSW	3	95681047	missense	probably damaging	1.00
R3889:Adamtsl4	UTSW	3	95680857	missense	probably damaging	1.00
R4062:Adamtsl4	UTSW	3	95677554	missense	probably benign	0.00
R4063:Adamtsl4	UTSW	3	95677554	missense	probably benign	0.00
R4124:Adamtsl4	UTSW	3	95681672	missense	probably benign	0.21
R4128:Adamtsl4	UTSW	3	95681672	missense	probably benign	0.21
R4432:Adamtsl4	UTSW	3	95681759	splice site	probably null
R4433:Adamtsl4	UTSW	3	95681759	splice site	probably null
R4643:Adamtsl4	UTSW	3	95684619	missense	possibly damaging	0.90
R4694:Adamtsl4	UTSW	3	95679745	missense	probably damaging	1.00
R4719:Adamtsl4	UTSW	3	95679586	critical splice donor site	probably null
R4929:Adamtsl4	UTSW	3	95678005	missense	probably damaging	1.00
R5044:Adamtsl4	UTSW	3	95681650	critical splice donor site	probably null
R5212:Adamtsl4	UTSW	3	95677670	missense	probably damaging	1.00
R5234:Adamtsl4	UTSW	3	95680920	missense	probably benign	0.00
R5268:Adamtsl4	UTSW	3	95680163	missense	probably damaging	0.98
R5473:Adamtsl4	UTSW	3	95679993	missense	probably damaging	0.98
R5509:Adamtsl4	UTSW	3	95681357	missense	probably benign	0.00
R5566:Adamtsl4	UTSW	3	95685455	critical splice donor site	probably null
R5891:Adamtsl4	UTSW	3	95682313	missense	possibly damaging	0.95
R5906:Adamtsl4	UTSW	3	95680784	missense	probably damaging	1.00
R6224:Adamtsl4	UTSW	3	95681729	missense	probably damaging	1.00
R6530:Adamtsl4	UTSW	3	95681054	missense	probably benign	0.00
R6861:Adamtsl4	UTSW	3	95680884	missense	probably damaging	1.00
R7199:Adamtsl4	UTSW	3	95680809	missense	probably benign	0.00
R8083:Adamtsl4	UTSW	3	95684401	missense	possibly damaging	0.76
R8251:Adamtsl4	UTSW	3	95684574	missense	probably damaging	1.00
R8723:Adamtsl4	UTSW	3	95677116	missense	possibly damaging	0.80
R8724:Adamtsl4	UTSW	3	95677116	missense	possibly damaging	0.80
R8725:Adamtsl4	UTSW	3	95677116	missense	possibly damaging	0.80
R8786:Adamtsl4	UTSW	3	95685474	start codon destroyed	probably null	0.98
R9218:Adamtsl4	UTSW	3	95681094	nonsense	probably null
R9257:Adamtsl4	UTSW	3	95681265	missense	probably damaging	1.00
R9632:Adamtsl4	UTSW	3	95681780	missense	probably damaging	0.96
R9749:Adamtsl4	UTSW	3	95684147	missense	probably benign
X0028:Adamtsl4	UTSW	3	95676964	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CGTTGTCCAAGGTCACATTTACAG -3'
(R):5'- AAGGGACTGTGAACTGTTGG -3'

Sequencing Primer
(F):5'- GTCACATTTACAGGTAGGGCC -3'
(R):5'- ACTGTGAACTGTTGGAAGGG -3'

Posted On

2021-04-30