Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01475:Adamtsl5'

88434

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Adamtsl5

Ensembl Gene

ENSMUSG00000043822

Gene Name

ADAMTS-like 5

Synonyms

2010109H09Rik, Thsd6

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01475

Quality Score

Status

Chromosome

Chromosomal Location

80175655-80184246 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 80180750 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 104 (F104S)

Ref Sequence

ENSEMBL: ENSMUSP00000100989 (fasta)

Gene Model

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

AlphaFold

D3Z689

Predicted Effect

probably damaging
Transcript: ENSMUST00000095446
AA Change: F104S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000093097
Gene: ENSMUSG00000043822
AA Change: F104S

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 damaging
Transcript: ENSMUST00000105352
AA Change: F104S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000100989
Gene: ENSMUSG00000043822
AA Change: F104S

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700129C05Rik	A	T	14: 59,380,252 (GRCm39)	N15K	possibly damaging	Het
Adam32	A	T	8: 25,362,664 (GRCm39)	I587K	probably damaging	Het
Adamtsl4	T	C	3: 95,584,843 (GRCm39)	S942G	probably benign	Het
Adgrf5	A	G	17: 43,761,245 (GRCm39)	D980G	probably benign	Het
Apba1	A	T	19: 23,894,950 (GRCm39)	D462V	possibly damaging	Het
Arhgef11	T	C	3: 87,634,433 (GRCm39)		probably benign	Het
Cd74	T	C	18: 60,943,393 (GRCm39)		probably benign	Het
Cdc16	T	C	8: 13,831,542 (GRCm39)	S592P	probably benign	Het
Cenpj	A	G	14: 56,802,502 (GRCm39)	M21T	possibly damaging	Het
Col28a1	A	G	6: 8,103,521 (GRCm39)	L425S	probably damaging	Het
Dbt	C	T	3: 116,313,908 (GRCm39)	T25I	possibly damaging	Het
Dguok	C	A	6: 83,467,552 (GRCm39)	M98I	possibly damaging	Het
Dmxl1	T	C	18: 50,004,781 (GRCm39)	L943P	probably damaging	Het
Eloa	G	A	4: 135,738,231 (GRCm39)	S243L	probably benign	Het
Enkur	C	A	2: 21,201,530 (GRCm39)	A52S	probably damaging	Het
Ezh1	T	C	11: 101,083,787 (GRCm39)	E744G	probably damaging	Het
Fbxw11	T	C	11: 32,672,101 (GRCm39)	S190P	possibly damaging	Het
Foxb1	G	A	9: 69,666,550 (GRCm39)		probably benign	Het
Gabra5	C	T	7: 57,058,432 (GRCm39)	G439S	probably damaging	Het
Gtf2h2	A	T	13: 100,617,541 (GRCm39)	V207D	probably damaging	Het
Hoatz	A	G	9: 51,011,358 (GRCm39)	I93T	probably benign	Het
Krt76	A	G	15: 101,796,948 (GRCm39)	V317A	probably benign	Het
Lair1	C	A	7: 4,012,683 (GRCm39)		probably benign	Het
Lrit2	T	A	14: 36,791,051 (GRCm39)	H243Q	probably damaging	Het
Mast3	C	T	8: 71,232,174 (GRCm39)	A1268T	probably damaging	Het
Matn2	G	A	15: 34,316,671 (GRCm39)	M4I	possibly damaging	Het
Mob1b	T	A	5: 88,897,502 (GRCm39)	F137I	probably damaging	Het
Mreg	T	C	1: 72,203,325 (GRCm39)		probably benign	Het
Nom1	T	C	5: 29,651,272 (GRCm39)	V684A	possibly damaging	Het
Pate2	T	A	9: 35,580,998 (GRCm39)	L1Q	probably null	Het
Pla2r1	T	C	2: 60,271,425 (GRCm39)		probably benign	Het
Plxna1	A	G	6: 89,331,870 (GRCm39)	F447L	possibly damaging	Het
Pno1	A	T	11: 17,160,992 (GRCm39)	I114N	probably damaging	Het
Ppp1r7	T	G	1: 93,288,540 (GRCm39)		probably benign	Het
Pprc1	T	A	19: 46,059,968 (GRCm39)	Y1503N	probably benign	Het
Rab30	T	C	7: 92,484,930 (GRCm39)	V132A	probably damaging	Het
Slc15a4	T	C	5: 127,679,024 (GRCm39)	T439A	probably benign	Het
Slc29a3	A	G	10: 60,559,596 (GRCm39)	V186A	possibly damaging	Het
Stxbp5l	G	A	16: 37,165,454 (GRCm39)	T88I	possibly damaging	Het
Tarbp1	A	G	8: 127,160,701 (GRCm39)	V1250A	probably benign	Het
Tcte2	A	T	17: 13,937,824 (GRCm39)		probably benign	Het
Trp53bp1	A	T	2: 121,100,800 (GRCm39)		probably null	Het
Trpc4	A	T	3: 54,173,828 (GRCm39)	L407F	possibly damaging	Het
Vmn1r6	T	C	6: 56,979,896 (GRCm39)	F164S	probably damaging	Het
Zfp579	C	A	7: 4,997,743 (GRCm39)	R56L	probably benign	Het

Other mutations in Adamtsl5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2013-11-18