Mutagenetix > Incidental Mutation

Incidental Mutation 'R6468:Adamtsl5'

516434

Institutional Source

Beutler Lab

Gene Symbol

Adamtsl5

Ensembl Gene

ENSMUSG00000043822

Gene Name

ADAMTS-like 5

Synonyms

2010109H09Rik, Thsd6

MMRRC Submission

044601-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6468 (G1)

Quality Score

183.009

Status

Validated

Chromosome

Chromosomal Location

80175655-80184246 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 80177747 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 305 (V305A)

Ref Sequence

ENSEMBL: ENSMUSP00000093097 (fasta)

Gene Model

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

AlphaFold

D3Z689

Predicted Effect

possibly damaging
Transcript: ENSMUST00000095446
AA Change: V305A

PolyPhen 2 Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000093097
Gene: ENSMUSG00000043822
AA Change: V305A

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: ENSMUST00000137571

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137576

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138705

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.9%

Validation Efficiency

97% (57/59)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl4	A	G	3: 151,198,012 (GRCm39)	T91A	probably benign	Het
Ano6	A	G	15: 95,865,595 (GRCm39)	I860V	probably benign	Het
B3galnt1	A	G	3: 69,482,866 (GRCm39)	S132P	probably damaging	Het
Bltp1	T	C	3: 37,062,592 (GRCm39)	I3368T	probably damaging	Het
Btbd10	A	T	7: 112,946,266 (GRCm39)	V33E	probably benign	Het
Cacna1g	A	T	11: 94,330,548 (GRCm39)	V989D	probably damaging	Het
Celsr3	A	G	9: 108,712,989 (GRCm39)	D1807G	probably benign	Het
Chd6	A	G	2: 160,854,987 (GRCm39)	M807T	probably damaging	Het
Cpxm2	T	C	7: 131,672,589 (GRCm39)	D320G	probably damaging	Het
Cryzl1	A	C	16: 91,489,413 (GRCm39)		probably null	Het
Dcbld2	A	T	16: 58,253,736 (GRCm39)	K158*	probably null	Het
Depdc5	A	G	5: 33,069,575 (GRCm39)	N437S	probably benign	Het
Dock7	G	A	4: 98,855,464 (GRCm39)	S1496L	probably benign	Het
Eea1	T	G	10: 95,864,274 (GRCm39)	I931R	probably benign	Het
Eif2ak4	C	A	2: 118,266,722 (GRCm39)	L714I	probably damaging	Het
Enpep	A	G	3: 129,125,509 (GRCm39)		probably null	Het
Fam83b	T	A	9: 76,409,413 (GRCm39)	K238*	probably null	Het
Fam83f	A	G	15: 80,576,312 (GRCm39)	Y321C	possibly damaging	Het
Fanci	A	G	7: 79,067,687 (GRCm39)	I42V	probably benign	Het
Flg2	A	T	3: 93,121,728 (GRCm39)	R1299S	unknown	Het
Gak	G	T	5: 108,771,202 (GRCm39)	C102*	probably null	Het
Gcnt7	A	G	2: 172,295,993 (GRCm39)	L277P	probably damaging	Het
Gucy2d	A	G	7: 98,099,168 (GRCm39)	E329G	probably benign	Het
Hacd1	T	C	2: 14,040,755 (GRCm39)	I167V	probably damaging	Het
Hdlbp	T	A	1: 93,345,389 (GRCm39)	D662V	possibly damaging	Het
Hspa4	A	T	11: 53,155,883 (GRCm39)	V674E	probably benign	Het
Hunk	A	G	16: 90,290,320 (GRCm39)	Q442R	possibly damaging	Het
Lce1j	A	T	3: 92,696,729 (GRCm39)	C16*	probably null	Het
Lrat	A	T	3: 82,810,799 (GRCm39)	M74K	probably damaging	Het
Lrig2	G	A	3: 104,374,509 (GRCm39)	R191C	probably damaging	Het
Lrrc37a	A	C	11: 103,351,666 (GRCm39)	F2558L	unknown	Het
Mctp1	T	A	13: 76,879,930 (GRCm39)		probably null	Het
Mecom	T	A	3: 30,194,535 (GRCm39)		probably benign	Het
Mgst1	A	G	6: 138,118,585 (GRCm39)		probably null	Het
Ms4a15	T	G	19: 10,970,534 (GRCm39)	E3A	probably benign	Het
Myo1d	T	C	11: 80,448,300 (GRCm39)	I942V	probably benign	Het
Neu2	A	G	1: 87,524,600 (GRCm39)	Y195C	probably damaging	Het
Nipa1	A	T	7: 55,669,252 (GRCm39)	V22E	probably benign	Het
Or4n4b	A	T	14: 50,535,924 (GRCm39)	L281I	probably benign	Het
Or6c35	T	C	10: 129,169,580 (GRCm39)	S277P	possibly damaging	Het
Or8k25	T	A	2: 86,244,381 (GRCm39)	N5I	probably damaging	Het
Pik3r4	A	G	9: 105,562,389 (GRCm39)	T1223A	possibly damaging	Het
Ppl	T	C	16: 4,910,305 (GRCm39)	D811G	probably damaging	Het
Prep	T	A	10: 44,991,203 (GRCm39)	Y290N	probably damaging	Het
Ptk6	A	T	2: 180,840,895 (GRCm39)	H215Q	probably benign	Het
Rad50	A	G	11: 53,582,971 (GRCm39)	I474T	possibly damaging	Het
Rnf213	T	A	11: 119,343,513 (GRCm39)	V3626E	possibly damaging	Het
Scn4a	C	T	11: 106,236,502 (GRCm39)	V253M	probably damaging	Het
Snta1	T	A	2: 154,219,069 (GRCm39)	D422V	probably damaging	Het
Spata31h1	G	T	10: 82,131,150 (GRCm39)	T620K	probably benign	Het
Stk38	A	G	17: 29,203,086 (GRCm39)	L160P	probably benign	Het
Tapbp	T	C	17: 34,145,072 (GRCm39)	F323S	probably damaging	Het
Uggt1	C	T	1: 36,212,531 (GRCm39)	R937Q	probably benign	Het
Vash2	G	A	1: 190,710,484 (GRCm39)	P57L	probably damaging	Het
Vmn1r4	G	A	6: 56,933,852 (GRCm39)	V119I	probably benign	Het
Vmn2r74	T	C	7: 85,610,599 (GRCm39)	D31G	probably benign	Het
Zfp114	T	C	7: 23,877,206 (GRCm39)	V16A	possibly damaging	Het

Other mutations in Adamtsl5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01475:Adamtsl5	APN	10	80,180,750 (GRCm39)	missense	probably damaging	1.00
IGL01788:Adamtsl5	APN	10	80,180,757 (GRCm39)	missense	probably benign	0.02
IGL02352:Adamtsl5	APN	10	80,179,562 (GRCm39)	critical splice acceptor site	probably null
IGL02359:Adamtsl5	APN	10	80,179,562 (GRCm39)	critical splice acceptor site	probably null
IGL02380:Adamtsl5	APN	10	80,177,612 (GRCm39)	missense	probably benign
IGL02898:Adamtsl5	APN	10	80,178,065 (GRCm39)	unclassified	probably benign
R0564:Adamtsl5	UTSW	10	80,180,681 (GRCm39)	missense	probably damaging	0.99
R1399:Adamtsl5	UTSW	10	80,177,042 (GRCm39)	missense	probably damaging	1.00
R1652:Adamtsl5	UTSW	10	80,178,011 (GRCm39)	missense	probably benign
R3433:Adamtsl5	UTSW	10	80,178,725 (GRCm39)	missense	probably benign
R4157:Adamtsl5	UTSW	10	80,181,156 (GRCm39)	missense	probably null	1.00
R4395:Adamtsl5	UTSW	10	80,180,736 (GRCm39)	missense	probably damaging	1.00
R5238:Adamtsl5	UTSW	10	80,181,192 (GRCm39)	missense	probably damaging	1.00
R5309:Adamtsl5	UTSW	10	80,180,982 (GRCm39)	intron	probably benign
R5608:Adamtsl5	UTSW	10	80,178,781 (GRCm39)	missense	probably benign	0.06
R6885:Adamtsl5	UTSW	10	80,179,465 (GRCm39)	missense	probably benign	0.01
R7426:Adamtsl5	UTSW	10	80,180,693 (GRCm39)	missense	probably benign	0.10
R7843:Adamtsl5	UTSW	10	80,178,757 (GRCm39)	missense	probably damaging	1.00
R7900:Adamtsl5	UTSW	10	80,177,735 (GRCm39)	missense	probably damaging	0.97
R7988:Adamtsl5	UTSW	10	80,181,372 (GRCm39)	missense	probably benign
R8431:Adamtsl5	UTSW	10	80,181,228 (GRCm39)	missense	probably benign	0.01
R9653:Adamtsl5	UTSW	10	80,180,763 (GRCm39)	missense	probably damaging	1.00
R9762:Adamtsl5	UTSW	10	80,180,896 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TAGTGAAGAAGCCGGTGTGC -3'
(R):5'- TCTTTGCAGCGCTGGTTACC -3'

Sequencing Primer
(F):5'- TGTGAGACGGGCCTTGCTC -3'
(R):5'- CTCAACGGTGATGGGGTGC -3'

Posted On

2018-05-21