Mutagenetix > Incidental Mutations

Incidental Mutation 'R5309:Adamtsl5'

404728

Institutional Source

Beutler Lab

Gene Symbol

Adamtsl5

Ensembl Gene

ENSMUSG00000043822

Gene Name

ADAMTS-like 5

Synonyms

Thsd6, 2010109H09Rik

MMRRC Submission

042892-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5309 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

80339110-80348412 bp(-) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

A to T at 80345148 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000100989 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000095446

SMART Domains

Protein: ENSMUSP00000093097
Gene: ENSMUSG00000043822

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

SMART Domains

Protein: ENSMUSP00000100989
Gene: ENSMUSG00000043822

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124789

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128845

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137576

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138705

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.3%

Validation Efficiency

99% (68/69)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9030624J02Rik	T	C	7: 118,813,576	I629T	probably damaging	Het
A630073D07Rik	T	C	6: 132,626,577	Q72R	unknown	Het
Abca15	T	C	7: 120,345,369	V409A	probably damaging	Het
Abcg3	A	C	5: 104,936,599	C577G	possibly damaging	Het
Adgrg3	G	A	8: 95,039,864	V388I	probably benign	Het
Ank2	T	C	3: 126,959,768	Q288R	probably damaging	Het
Ccdc173	T	C	2: 69,787,258	T60A	possibly damaging	Het
Cdc45	C	T	16: 18,795,897	R205H	probably damaging	Het
Cdh3	A	G	8: 106,539,020	T232A	probably damaging	Het
Cntnap5c	A	T	17: 58,359,254	E1093V	probably benign	Het
Cwh43	A	G	5: 73,416,767	H258R	probably benign	Het
Cyp2j6	T	A	4: 96,535,556	I192F	probably damaging	Het
Dnaaf5	T	A	5: 139,152,862	V266E	probably damaging	Het
Egfr	G	A	11: 16,911,703	G1161S	probably benign	Het
Ehmt1	A	G	2: 24,884,195	V201A	probably damaging	Het
Exoc7	C	A	11: 116,305,027	E28*	probably null	Het
Fam118a	C	T	15: 85,050,755	T195M	probably damaging	Het
Fancg	A	G	4: 43,003,019	F613L	probably benign	Het
Fbxo10	A	T	4: 45,042,036	I731N	possibly damaging	Het
Fchsd1	C	T	18: 37,959,873		probably benign	Het
Gfm2	G	A	13: 97,163,151	A406T	probably damaging	Het
Gnal	G	A	18: 67,213,107	R219K	possibly damaging	Het
Helz2	T	A	2: 181,234,846	E1285V	probably benign	Het
Ighv1-74	A	G	12: 115,802,881	S39P	probably damaging	Het
Ipo11	T	C	13: 106,833,973		probably benign	Het
Klc1	A	G	12: 111,795,621	K575R	possibly damaging	Het
Larp1	T	C	11: 58,050,808	V689A	possibly damaging	Het
Lman1l	A	T	9: 57,611,077	L343Q	probably damaging	Het
Mki67	A	T	7: 135,700,830	V825E	probably damaging	Het
Mmp9	T	A	2: 164,950,795		probably benign	Het
Myog	A	G	1: 134,290,326	K91E	probably damaging	Het
Nfil3	A	T	13: 52,967,620	V416E	probably damaging	Het
Nup160	G	T	2: 90,732,832	E1314*	probably null	Het
Olfr1277	T	G	2: 111,270,310	D19A	probably benign	Het
Olfr1284	T	C	2: 111,379,834	V278A	possibly damaging	Het
Olfr790	T	A	10: 129,501,514	V210E	probably damaging	Het
Olfr792	A	C	10: 129,541,265	M243L	probably benign	Het
Osbpl8	T	A	10: 111,270,557	V275E	probably benign	Het
Osbpl9	A	G	4: 109,066,155	S520P	probably damaging	Het
Ppp4r4	T	A	12: 103,606,888		probably null	Het
Proz	T	C	8: 13,061,049	L7P	probably damaging	Het
Ptpn13	G	A	5: 103,541,053	S904N	probably damaging	Het
Rap1gds1	A	G	3: 138,958,628	L322P	probably damaging	Het
Rnf5	A	G	17: 34,601,588	F175S	probably benign	Het
Sema4a	G	A	3: 88,437,036	S636F	probably damaging	Het
Sfrp2	A	G	3: 83,769,401	D193G	probably damaging	Het
Shoc2	T	C	19: 53,987,733	V18A	probably benign	Het
Skint8	C	A	4: 111,950,193	L359M	probably damaging	Het
Slc10a6	A	T	5: 103,609,092	C269S	probably damaging	Het
Slc34a2	A	G	5: 53,069,488	E651G	probably damaging	Het
Snx13	C	T	12: 35,144,325	Q956*	probably null	Het
Spg21	A	G	9: 65,468,802	I31V	probably benign	Het
Srpk2	T	C	5: 23,525,718	K268E	probably damaging	Het
Supt16	T	C	14: 52,162,698	E996G	probably damaging	Het
Syf2	A	G	4: 134,936,069	D184G	probably benign	Het
Tmem45a2	T	C	16: 57,039,007	D287G	possibly damaging	Het
Utrn	A	T	10: 12,727,769	D627E	probably damaging	Het
Vmn1r170	T	A	7: 23,606,455	I94N	probably damaging	Het
Vmn2r103	A	T	17: 19,793,034	N139I	probably benign	Het
Vmn2r15	T	A	5: 109,293,090	I301F	probably damaging	Het
Zfp949	A	C	9: 88,567,183	T14P	possibly 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
R5608:Adamtsl5	UTSW	10	80342947	missense	probably benign	0.06
R6468:Adamtsl5	UTSW	10	80341913	missense	possibly damaging	0.65
R6885:Adamtsl5	UTSW	10	80343631	missense	probably benign	0.01
R7426:Adamtsl5	UTSW	10	80344859	missense	probably benign	0.10

Predicted Primers

PCR Primer
(F):5'- CAGTCCTGGGCGAAGATATAG -3'
(R):5'- ACGCCAATGTGTCCGGTAAC -3'

Sequencing Primer
(F):5'- TGGATAAACCGGGCAAACC -3'
(R):5'- GGTAACCCGGGAATCCCTC -3'

Posted On

2016-07-22