Mutagenetix > Incidental Mutation

Incidental Mutation 'R5608:Adamtsl5'

439399

Institutional Source

Beutler Lab

Gene Symbol

Adamtsl5

Ensembl Gene

ENSMUSG00000043822

Gene Name

ADAMTS-like 5

Synonyms

2010109H09Rik, Thsd6

MMRRC Submission

043272-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5608 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

80175655-80184246 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 80178781 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 199 (D199G)

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: D199G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000093097
Gene: ENSMUSG00000043822
AA Change: D199G

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: D199G

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000100989
Gene: ENSMUSG00000043822
AA Change: D199G

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

95% (54/57)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl1	G	T	8: 84,663,886 (GRCm39)	G1118W	probably damaging	Het
Adgrv1	T	C	13: 81,303,395 (GRCm39)	E117G	probably damaging	Het
Alkbh7	A	T	17: 57,305,446 (GRCm39)	I88F	probably damaging	Het
Ankrd26	C	A	6: 118,488,583 (GRCm39)	D1359Y	probably damaging	Het
Apoo-ps	T	C	13: 107,550,709 (GRCm39)		noncoding transcript	Het
Arfgap2	G	A	2: 91,100,547 (GRCm39)	R298H	probably damaging	Het
Birc6	G	A	17: 74,920,539 (GRCm39)	V2109I	probably damaging	Het
Blvrb	C	T	7: 27,158,894 (GRCm39)	P98L	probably benign	Het
Bmpr1b	C	A	3: 141,563,283 (GRCm39)	M220I	possibly damaging	Het
Bpifa1	T	C	2: 153,989,495 (GRCm39)		probably benign	Het
Capn7	A	G	14: 31,092,664 (GRCm39)	Y737C	probably damaging	Het
Cdh13	A	T	8: 119,484,213 (GRCm39)	D158V	probably benign	Het
Cenpe	C	A	3: 134,940,837 (GRCm39)	S662*	probably null	Het
Colec12	T	A	18: 9,848,267 (GRCm39)	D148E	possibly damaging	Het
Dennd5a	C	A	7: 109,518,630 (GRCm39)	E480*	probably null	Het
Dpysl4	T	C	7: 138,678,459 (GRCm39)	V473A	probably damaging	Het
Dyrk3	T	C	1: 131,056,452 (GRCm39)	S574G	probably benign	Het
Fchsd1	C	T	18: 38,092,926 (GRCm39)		probably benign	Het
H2-Aa	T	C	17: 34,502,816 (GRCm39)	T117A	possibly damaging	Het
Helq	C	T	5: 100,938,085 (GRCm39)	G454S	probably damaging	Het
Incenp	CGCTGCTGCTGC	CGCTGCTGCTGCTGC	19: 9,871,232 (GRCm39)		probably benign	Het
Ktn1	TTGTTGTCTTTGTGTT	TTGTT	14: 47,971,554 (GRCm39)		probably benign	Het
Lig1	C	A	7: 13,039,933 (GRCm39)	T715N	probably damaging	Het
Lrrc31	C	A	3: 30,743,994 (GRCm39)		probably null	Het
Ltbp2	A	C	12: 84,834,238 (GRCm39)		probably null	Het
Marcks	A	T	10: 37,012,912 (GRCm39)	V41E	probably damaging	Het
Mex3c	T	A	18: 73,723,014 (GRCm39)	M369K	possibly damaging	Het
Msh6	A	G	17: 88,294,329 (GRCm39)	D1028G	probably damaging	Het
Nhlrc3	C	T	3: 53,369,732 (GRCm39)		probably null	Het
Or1n1b	A	G	2: 36,780,527 (GRCm39)	F111S	probably damaging	Het
Or52s1b	T	C	7: 102,822,056 (GRCm39)	T263A	probably damaging	Het
Or52z12	G	A	7: 103,233,506 (GRCm39)	W92*	probably null	Het
Or8b8	G	A	9: 37,809,078 (GRCm39)	C126Y	probably damaging	Het
Pcdhga6	A	G	18: 37,840,514 (GRCm39)	N78S	possibly damaging	Het
Plag1	T	A	4: 3,905,463 (GRCm39)	K76*	probably null	Het
Ptpn21	T	A	12: 98,655,036 (GRCm39)	T644S	probably benign	Het
Qrfpr	A	G	3: 36,235,114 (GRCm39)	V292A	possibly damaging	Het
Rbbp6	T	A	7: 122,596,309 (GRCm39)	V617E	probably damaging	Het
Rnf157	A	T	11: 116,287,146 (GRCm39)		probably null	Het
Serpina5	A	C	12: 104,070,003 (GRCm39)	Y300S	probably damaging	Het
Slc41a3	A	G	6: 90,617,889 (GRCm39)	K279R	probably benign	Het
Smndc1	A	G	19: 53,372,084 (GRCm39)	V110A	probably benign	Het
Spata31e2	T	C	1: 26,722,129 (GRCm39)	Q1017R	probably damaging	Het
Tubgcp6	A	G	15: 88,995,353 (GRCm39)	V419A	probably benign	Het
Uggt2	C	T	14: 119,326,611 (GRCm39)	G200D	possibly damaging	Het
Utrn	A	T	10: 12,547,581 (GRCm39)	S1620T	probably benign	Het
Xkr4	T	C	1: 3,741,603 (GRCm39)		probably benign	Het
Zscan22	G	A	7: 12,640,919 (GRCm39)	G388S	probably 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
R6468:Adamtsl5	UTSW	10	80,177,747 (GRCm39)	missense	possibly damaging	0.65
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'- TCTGTCAGAGGCCAATCAGG -3'
(R):5'- AGTGCCTTGTTCTCACTAGGTC -3'

Sequencing Primer
(F):5'- GCCAATCAGGGGAAGCC -3'
(R):5'- AGGTCCCGCCCACGTAATTC -3'

Posted On

2016-10-26