Mutagenetix > Incidental Mutation

Incidental Mutation 'R4157:Adamtsl5'

315587

Institutional Source

Beutler Lab

Gene Symbol

Adamtsl5

Ensembl Gene

ENSMUSG00000043822

Gene Name

ADAMTS-like 5

Synonyms

2010109H09Rik, Thsd6

MMRRC Submission

041000-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4157 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

80175655-80184246 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 80181156 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 75 (R75Q)

Ref Sequence

ENSEMBL: ENSMUSP00000100989 (fasta)

Gene Model

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

AlphaFold

D3Z689

Predicted Effect

probably null
Transcript: ENSMUST00000095446
AA Change: R75Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000093097
Gene: ENSMUSG00000043822
AA Change: R75Q

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 null
Transcript: ENSMUST00000105352
AA Change: R75Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000100989
Gene: ENSMUSG00000043822
AA Change: R75Q

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

Meta Mutation Damage Score

0.6783

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.6%
20x: 96.1%

Validation Efficiency

95% (52/55)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts7	G	T	9: 90,070,414 (GRCm39)	R585L	probably damaging	Het
Ankrd26	T	A	6: 118,484,782 (GRCm39)	Q1485L	probably damaging	Het
Apbb2	G	A	5: 66,459,947 (GRCm39)	R717*	probably null	Het
Arl6ip1	AAAATAAATAAATAAATAAATAAATA	AAAATAAATAAATAAATAAATAAATAAATA	7: 117,721,122 (GRCm39)		probably benign	Het
Atp8b5	A	G	4: 43,365,591 (GRCm39)	E735G	probably damaging	Het
Bcl11b	A	T	12: 107,883,684 (GRCm39)		probably null	Het
C4b	A	G	17: 34,961,829 (GRCm39)	I139T	probably damaging	Het
Ccpg1	C	A	9: 72,919,449 (GRCm39)	Q355K	probably benign	Het
Cdk8	A	T	5: 146,236,259 (GRCm39)		probably benign	Het
Ctif	T	C	18: 75,568,341 (GRCm39)	H599R	probably benign	Het
Degs1	A	G	1: 182,110,192 (GRCm39)	I26T	possibly damaging	Het
Dnajc4	T	C	19: 6,967,208 (GRCm39)	N72S	probably damaging	Het
Ecd	A	G	14: 20,374,632 (GRCm39)	S503P	probably damaging	Het
Gm3486	G	A	14: 41,208,343 (GRCm39)	L123F	probably benign	Het
Inpp5f	C	T	7: 128,281,423 (GRCm39)		probably benign	Het
Irx4	A	T	13: 73,413,662 (GRCm39)	Q44L	probably benign	Het
Krt9	T	A	11: 100,079,475 (GRCm39)	Y639F	unknown	Het
Lgals9	C	A	11: 78,863,933 (GRCm39)	V71L	possibly damaging	Het
Mdga1	T	C	17: 30,052,317 (GRCm39)	N143S	probably benign	Het
Ndufs4	A	T	13: 114,444,390 (GRCm39)	S129R	probably benign	Het
Nup50l	C	G	6: 96,142,264 (GRCm39)	W260S	possibly damaging	Het
Oog2	A	G	4: 143,920,523 (GRCm39)		probably benign	Het
Orm2	T	A	4: 63,282,222 (GRCm39)	F133L	probably null	Het
Pasd1	T	C	X: 70,983,161 (GRCm39)	C378R	possibly damaging	Het
Pidd1	A	G	7: 141,021,279 (GRCm39)	V333A	possibly damaging	Het
Ppp4r3a	A	G	12: 101,021,878 (GRCm39)	F341L	probably damaging	Het
Rab11fip1	A	T	8: 27,642,175 (GRCm39)	S875T	probably damaging	Het
Rpap1	C	T	2: 119,604,660 (GRCm39)	R416H	probably damaging	Het
Rpl31-ps17	C	T	12: 54,748,397 (GRCm39)		noncoding transcript	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Snx22	T	C	9: 65,975,493 (GRCm39)	Y92C	probably damaging	Het
Srgn	A	G	10: 62,333,613 (GRCm39)	F55L	possibly damaging	Het
Swt1	A	T	1: 151,278,795 (GRCm39)	V454E	probably damaging	Het
Tmem54	G	A	4: 129,004,504 (GRCm39)	R151Q	probably damaging	Het
Tns1	T	A	1: 73,953,790 (GRCm39)	N1848Y	probably damaging	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Top2b	A	G	14: 16,384,491 (GRCm38)	N80S	probably benign	Het
Trim7	T	C	11: 48,738,920 (GRCm39)	V313A	probably benign	Het
Uaca	A	G	9: 60,779,035 (GRCm39)	S1141G	probably benign	Het
Ubr3	T	C	2: 69,790,013 (GRCm39)		probably null	Het
Utp20	A	G	10: 88,597,729 (GRCm39)	V121A	probably benign	Het
Wdr20	G	A	12: 110,704,608 (GRCm39)	R49H	possibly damaging	Het
Ylpm1	T	C	12: 85,104,177 (GRCm39)		probably benign	Het
Zfp398	A	T	6: 47,812,843 (GRCm39)	T5S	probably benign	Het
Zfp410	G	A	12: 84,374,206 (GRCm39)	R181H	probably damaging	Het
Zfp523	C	T	17: 28,421,257 (GRCm39)	A367V	probably benign	Het
Zfp748	G	A	13: 67,690,225 (GRCm39)	S345L	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
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
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'- AAGTTCCTCTCCGGGAAGTC -3'
(R):5'- ATCCCAGAAAGCTCACAGGG -3'

Sequencing Primer
(F):5'- TCTGAGTGTAGCAGGAACCC -3'
(R):5'- CCAGAAAGCTCACAGGGATGTG -3'

Posted On

2015-05-14