Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01788:Adamtsl5'

155140

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 #

IGL01788

Quality Score

Status

Chromosome

Chromosomal Location

80175655-80184246 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 80180757 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 102 (T102A)

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: T102A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000093097
Gene: ENSMUSG00000043822
AA Change: T102A

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: T102A

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000100989
Gene: ENSMUSG00000043822
AA Change: T102A

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9230009I02Rik	T	G	11: 50,982,542 (GRCm39)		noncoding transcript	Het
Acp6	A	G	3: 97,073,198 (GRCm39)	T80A	probably damaging	Het
Adcy6	C	A	15: 98,494,400 (GRCm39)	E812*	probably null	Het
Apol6	G	A	15: 76,935,216 (GRCm39)	V162I	possibly damaging	Het
Atp6v1h	T	A	1: 5,220,206 (GRCm39)	M396K	possibly damaging	Het
B3gnt8	A	G	7: 25,328,613 (GRCm39)	T348A	probably damaging	Het
Cgnl1	A	G	9: 71,562,672 (GRCm39)	V869A	probably benign	Het
Dcaf5	A	T	12: 80,395,098 (GRCm39)	I357N	probably damaging	Het
Dennd4a	A	G	9: 64,749,903 (GRCm39)	I165V	probably benign	Het
Dlgap2	T	A	8: 14,893,631 (GRCm39)	I982K	probably benign	Het
Dop1a	A	T	9: 86,413,772 (GRCm39)	H1891L	probably benign	Het
Fhad1	A	C	4: 141,660,113 (GRCm39)	S65R	probably benign	Het
Fn1	A	G	1: 71,652,996 (GRCm39)	I1331T	probably damaging	Het
Fto	A	T	8: 92,136,359 (GRCm39)	Y211F	probably benign	Het
Gm3278	A	C	14: 16,080,370 (GRCm39)	R60S	probably benign	Het
Ifna9	A	G	4: 88,510,097 (GRCm39)	S176P	probably damaging	Het
Klk1	T	C	7: 43,878,407 (GRCm39)	I189T	probably benign	Het
Mcph1	G	A	8: 18,682,419 (GRCm39)	G519R	probably damaging	Het
Mcph1	G	A	8: 18,682,420 (GRCm39)	G519E	probably damaging	Het
N4bp1	A	T	8: 87,587,624 (GRCm39)	V438E	probably benign	Het
Ncapg	T	A	5: 45,828,423 (GRCm39)	V58E	probably damaging	Het
Nid2	T	A	14: 19,858,047 (GRCm39)	S1054T	probably damaging	Het
Nlrp4a	A	T	7: 26,153,492 (GRCm39)	Y681F	probably benign	Het
Or4f57	T	C	2: 111,791,352 (GRCm39)	D22G	probably benign	Het
Or4k15c	A	G	14: 50,321,959 (GRCm39)	Y60H	probably damaging	Het
Or52e19b	C	A	7: 103,032,770 (GRCm39)	M146I	probably benign	Het
Or5b94	G	A	19: 12,652,442 (GRCm39)	R291K	probably damaging	Het
Papln	A	T	12: 83,822,236 (GRCm39)	T364S	probably benign	Het
Pcdh18	C	A	3: 49,710,371 (GRCm39)	E315*	probably null	Het
Pmel	G	A	10: 128,553,701 (GRCm39)	R445Q	probably damaging	Het
Ppp1r12b	C	T	1: 134,821,245 (GRCm39)	V182I	possibly damaging	Het
Ptprn2	A	G	12: 116,864,607 (GRCm39)	T541A	probably damaging	Het
Rbl1	A	T	2: 157,005,576 (GRCm39)	N813K	probably benign	Het
Sash1	C	A	10: 8,609,410 (GRCm39)	R713L	probably benign	Het
Slc13a1	T	G	6: 24,134,371 (GRCm39)	T171P	probably damaging	Het
Slc18b1	G	T	10: 23,701,899 (GRCm39)	E407D	probably damaging	Het
Slc2a6	G	A	2: 26,914,227 (GRCm39)	Q297*	probably null	Het
Vmn1r209	T	C	13: 22,989,832 (GRCm39)	H286R	probably damaging	Het
Vmn1r28	C	A	6: 58,242,522 (GRCm39)	H122N	probably benign	Het
Wfs1	A	G	5: 37,125,980 (GRCm39)	Y304H	probably benign	Het
Zfp512b	A	G	2: 181,230,556 (GRCm39)	S445P	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
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

2014-02-04