Mutagenetix > Incidental Mutation

Incidental Mutation 'R6885:Adamtsl5'

536798

Institutional Source

Beutler Lab

Gene Symbol

Adamtsl5

Ensembl Gene

ENSMUSG00000043822

Gene Name

ADAMTS-like 5

Synonyms

Thsd6, 2010109H09Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6885 (G1)

Quality Score

215.009

Status

Not validated

Chromosome

Chromosomal Location

80339110-80348412 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 80343631 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 164 (T164S)

Ref Sequence

ENSEMBL: ENSMUSP00000100989 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095446] [ENSMUST00000105352]

AlphaFold

D3Z689

Predicted Effect

probably benign
Transcript: ENSMUST00000095446
AA Change: T164S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000093097
Gene: ENSMUSG00000043822
AA Change: T164S

Domain	Start	End	E-Value	Type
signal peptide	1	43	N/A	INTRINSIC
TSP1	49	98	2.51e-10	SMART
Pfam:ADAM_spacer1	203	312	1.1e-27	PFAM
low complexity region	329	344	N/A	INTRINSIC
Pfam:NTR	378	481	2.2e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000105352
AA Change: T164S

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000100989
Gene: ENSMUSG00000043822
AA Change: T164S

Domain	Start	End	E-Value	Type
signal peptide	1	43	N/A	INTRINSIC
TSP1	49	98	2.51e-10	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

98% (58/59)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	G	7: 120,520,109	I1025M	probably benign	Het
Ankar	C	T	1: 72,643,036	A1239T	unknown	Het
Aox4	A	T	1: 58,264,378	S1192C	probably damaging	Het
Atl2	T	C	17: 79,852,553	D68G	probably damaging	Het
Btnl4	T	C	17: 34,472,945	I228V	probably benign	Het
Catsper4	T	C	4: 134,215,149	T231A	probably benign	Het
Ccl12	A	T	11: 82,102,697	T54S	probably damaging	Het
Cntn1	T	C	15: 92,243,099		probably null	Het
Cog5	T	A	12: 31,894,199	D694E	probably damaging	Het
Crat	T	A	2: 30,415,196		probably benign	Het
Crot	T	C	5: 8,973,635	T418A	probably benign	Het
Cubn	G	A	2: 13,318,278	P2826L	probably damaging	Het
Dnah17	A	G	11: 118,090,772	F1698L	possibly damaging	Het
Dock8	T	A	19: 25,147,378	D1019E	possibly damaging	Het
Eps15	A	G	4: 109,309,164	N85D	probably damaging	Het
Exoc1	T	C	5: 76,559,042	S457P	probably damaging	Het
Ext1	G	A	15: 53,101,692	T426I	probably damaging	Het
Fat1	T	C	8: 44,952,452	S747P	possibly damaging	Het
Gas7	A	G	11: 67,683,387	D396G	probably damaging	Het
Gm13023	T	C	4: 143,793,533	C116R	probably damaging	Het
Gm5114	G	T	7: 39,408,156	R680S	probably benign	Het
Gpcpd1	A	T	2: 132,554,074	L94M	possibly damaging	Het
Gse1	C	A	8: 120,229,482		probably benign	Het
Hmgb1	T	C	5: 149,050,661	E26G	probably benign	Het
Incenp	C	T	19: 9,875,132	R714Q	unknown	Het
Krt73	T	C	15: 101,796,398	E351G	probably damaging	Het
Ksr1	A	G	11: 79,047,295		probably null	Het
Lpin2	T	G	17: 71,215,150	S60A	probably damaging	Het
Lrrc71	T	C	3: 87,742,620		probably null	Het
Mafb	A	G	2: 160,366,019	S220P	possibly damaging	Het
Maml3	TCTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGTTGCTGCTGCTGC	TCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGTTGCTGCTGCTGC	3: 51,697,579			Het
Mcmbp	T	C	7: 128,725,109		probably null	Het
Olfr1191-ps1	A	G	2: 88,643,597	T277A	probably damaging	Het
Olfr390	A	T	11: 73,787,100	H54L	possibly damaging	Het
Paqr9	T	C	9: 95,560,043	S29P	probably benign	Het
Parm1	A	G	5: 91,594,210	T146A	possibly damaging	Het
Pgm1	T	A	5: 64,103,878	F238L	probably benign	Het
Pigv	A	T	4: 133,665,481	F126Y	probably damaging	Het
Pitx2	T	C	3: 129,218,608	M222T	probably damaging	Het
Plekhg6	T	C	6: 125,378,730	N37S	probably benign	Het
Psme4	A	T	11: 30,834,307	K961*	probably null	Het
Rbpj	T	C	5: 53,653,151	W392R	probably damaging	Het
Reg3a	T	A	6: 78,381,055		probably null	Het
Rfc3	C	T	5: 151,648,284	S85N	probably benign	Het
Rtn3	T	C	19: 7,458,331	T80A	probably benign	Het
Sash1	T	C	10: 8,784,221	T195A	probably damaging	Het
Ska1	A	G	18: 74,206,839	V12A	probably benign	Het
Slc25a1	A	G	16: 17,927,430	V80A	probably benign	Het
Slc26a5	A	T	5: 21,834,344	V217D	probably damaging	Het
Slc46a1	A	G	11: 78,466,979	D286G	probably benign	Het
Spata2l	A	T	8: 123,235,558	L88Q	probably damaging	Het
Sptbn1	T	G	11: 30,138,634	Q876P	probably benign	Het
Tenm2	T	A	11: 36,023,580	I2377F	possibly damaging	Het
Thbs4	A	T	13: 92,762,869	D539E	probably damaging	Het
Tmem154	T	A	3: 84,692,506	C162S	possibly damaging	Het
Tpcn1	T	C	5: 120,544,437	E502G	probably benign	Het
Traf7	G	A	17: 24,512,292	R257C	probably benign	Het
Tsc22d2	T	C	3: 58,416,208	Y174H	probably damaging	Het
Usp8	A	G	2: 126,752,310	E802G	probably damaging	Het
Vmn1r5	T	C	6: 56,986,057	V239A	possibly damaging	Het
Vmn2r99	T	A	17: 19,380,195	S494T	possibly damaging	Het
Zbtb38	A	G	9: 96,686,464	F856L	probably damaging	Het

Other mutations in Adamtsl5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01475:Adamtsl5	APN	10	80344916	missense	probably damaging	1.00
IGL01788:Adamtsl5	APN	10	80344923	missense	probably benign	0.02
IGL02352:Adamtsl5	APN	10	80343728	critical splice acceptor site	probably null
IGL02359:Adamtsl5	APN	10	80343728	critical splice acceptor site	probably null
IGL02380:Adamtsl5	APN	10	80341778	missense	probably benign
IGL02898:Adamtsl5	APN	10	80342231	unclassified	probably benign
R0564:Adamtsl5	UTSW	10	80344847	missense	probably damaging	0.99
R1399:Adamtsl5	UTSW	10	80341208	missense	probably damaging	1.00
R1652:Adamtsl5	UTSW	10	80342177	missense	probably benign
R3433:Adamtsl5	UTSW	10	80342891	missense	probably benign
R4157:Adamtsl5	UTSW	10	80345322	missense	probably null	1.00
R4395:Adamtsl5	UTSW	10	80344902	missense	probably damaging	1.00
R5238:Adamtsl5	UTSW	10	80345358	missense	probably damaging	1.00
R5309:Adamtsl5	UTSW	10	80345148	intron	probably benign
R5608:Adamtsl5	UTSW	10	80342947	missense	probably benign	0.06
R6468:Adamtsl5	UTSW	10	80341913	missense	possibly damaging	0.65
R7426:Adamtsl5	UTSW	10	80344859	missense	probably benign	0.10
R7843:Adamtsl5	UTSW	10	80342923	missense	probably damaging	1.00
R7900:Adamtsl5	UTSW	10	80341901	missense	probably damaging	0.97
R7988:Adamtsl5	UTSW	10	80345538	missense	probably benign
R8431:Adamtsl5	UTSW	10	80345394	missense	probably benign	0.01
R9653:Adamtsl5	UTSW	10	80344929	missense	probably damaging	1.00
R9762:Adamtsl5	UTSW	10	80345062	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGAAGCCCCAGTGAGGTTTG -3'
(R):5'- CCTGTAGGGGTTTAGGCTAAGC -3'

Sequencing Primer
(F):5'- TCTGAACCTGAACAGTGGGTG -3'
(R):5'- CCTGAGCTGCAATGAGCTG -3'

Posted On

2018-10-18