Mutagenetix > Incidental Mutation

Incidental Mutation 'R0564:Adamtsl5'

46077

Institutional Source

Beutler Lab

Gene Symbol

Adamtsl5

Ensembl Gene

ENSMUSG00000043822

Gene Name

ADAMTS-like 5

Synonyms

Thsd6, 2010109H09Rik

MMRRC Submission

038755-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0564 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

80339110-80348412 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 80344847 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 127 (V127A)

Ref Sequence

ENSEMBL: ENSMUSP00000100989 (fasta)

Gene Model

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

AlphaFold

D3Z689

Predicted Effect

possibly damaging
Transcript: ENSMUST00000095446
AA Change: V127A

PolyPhen 2 Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000093097
Gene: ENSMUSG00000043822
AA Change: V127A

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: V127A

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000100989
Gene: ENSMUSG00000043822
AA Change: V127A

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

Meta Mutation Damage Score

0.4514

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.7%

Validation Efficiency

98% (52/53)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alox12	T	A	11: 70,252,836 (GRCm38)	D202V	probably damaging	Het
Ankib1	A	G	5: 3,729,655 (GRCm38)	Y405H	probably damaging	Het
Apbb2	A	T	5: 66,452,250 (GRCm38)	M18K	probably damaging	Het
Atad2	C	A	15: 58,125,833 (GRCm38)		probably benign	Het
BC117090	A	T	16: 36,322,984 (GRCm38)	Y34*	probably null	Het
Birc6	T	A	17: 74,625,243 (GRCm38)		probably benign	Het
Ccdc126	T	C	6: 49,334,142 (GRCm38)	M28T	possibly damaging	Het
Cdc16	A	T	8: 13,781,618 (GRCm38)	D617V	probably damaging	Het
Cep135	G	A	5: 76,615,710 (GRCm38)	E516K	probably damaging	Het
Cep135	G	T	5: 76,638,949 (GRCm38)	M1081I	probably benign	Het
Col6a3	A	C	1: 90,807,734 (GRCm38)	V731G	probably damaging	Het
Cwc27	C	A	13: 104,661,357 (GRCm38)	E365*	probably null	Het
D230025D16Rik	T	A	8: 105,239,971 (GRCm38)		probably benign	Het
Dip2b	C	A	15: 100,162,719 (GRCm38)	Y258*	probably null	Het
Dnah17	A	G	11: 118,082,981 (GRCm38)	V1900A	probably damaging	Het
Dpysl2	A	T	14: 66,805,446 (GRCm38)		probably benign	Het
Dync2h1	A	T	9: 7,139,432 (GRCm38)	L1401Q	probably damaging	Het
Esf1	A	T	2: 140,158,586 (GRCm38)	Y427N	possibly damaging	Het
Fbln1	T	A	15: 85,227,107 (GRCm38)	V154D	probably benign	Het
Frem2	A	G	3: 53,656,109 (GRCm38)	F326L	probably damaging	Het
Gm4922	T	A	10: 18,784,065 (GRCm38)	N303I	possibly damaging	Het
Hist1h1t	G	T	13: 23,696,324 (GRCm38)	K153N	possibly damaging	Het
Iigp1	G	A	18: 60,390,451 (GRCm38)	V214M	probably damaging	Het
Luzp2	A	G	7: 54,835,962 (GRCm38)	K2E	probably damaging	Het
Mcc	A	G	18: 44,468,507 (GRCm38)	L410P	probably damaging	Het
Mfn2	A	G	4: 147,883,255 (GRCm38)	F452S	probably damaging	Het
Mib2	C	T	4: 155,659,460 (GRCm38)	G42S	probably damaging	Het
Micu2	A	G	14: 57,919,374 (GRCm38)	F335L	possibly damaging	Het
Mpp3	T	G	11: 102,005,347 (GRCm38)	K450T	possibly damaging	Het
Mtmr4	T	A	11: 87,598,888 (GRCm38)	V79E	probably damaging	Het
Nlrp4b	A	G	7: 10,714,658 (GRCm38)	I263V	probably benign	Het
Olfr551	T	C	7: 102,588,531 (GRCm38)	I71V	probably benign	Het
Olfr809	T	G	10: 129,776,136 (GRCm38)	V74G	probably damaging	Het
Pdk1	G	A	2: 71,880,039 (GRCm38)	W113*	probably null	Het
Phxr4	A	T	9: 13,431,697 (GRCm38)		probably benign	Het
Rad51ap2	T	A	12: 11,457,896 (GRCm38)	H606Q	probably benign	Het
Ralgapa1	A	T	12: 55,782,885 (GRCm38)	I187K	possibly damaging	Het
Rps27	A	G	3: 90,212,923 (GRCm38)		probably benign	Het
Sema3e	T	A	5: 14,236,085 (GRCm38)		probably null	Het
Sh2d3c	G	A	2: 32,753,052 (GRCm38)	C749Y	probably damaging	Het
Siah2	T	C	3: 58,676,235 (GRCm38)	D210G	probably benign	Het
Smap2	G	A	4: 120,976,977 (GRCm38)	P155S	probably benign	Het
Snrk	C	T	9: 122,166,544 (GRCm38)	T463M	possibly damaging	Het
Tm9sf3	A	G	19: 41,245,525 (GRCm38)		probably benign	Het
Tmem132d	C	T	5: 127,784,778 (GRCm38)	E760K	probably damaging	Het
Tmem184c	A	T	8: 77,606,160 (GRCm38)		probably null	Het
Tmem235	A	T	11: 117,860,848 (GRCm38)	I33F	possibly damaging	Het
Tmem267	A	T	13: 119,492,639 (GRCm38)		probably null	Het
Top1	G	A	2: 160,714,265 (GRCm38)	R548Q	probably damaging	Het
Trio	T	C	15: 27,805,822 (GRCm38)	N527D	probably damaging	Het
Upf3a	A	G	8: 13,795,656 (GRCm38)	K252E	probably benign	Het

Other mutations in Adamtsl5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01475:Adamtsl5	APN	10	80,344,916 (GRCm38)	missense	probably damaging	1.00
IGL01788:Adamtsl5	APN	10	80,344,923 (GRCm38)	missense	probably benign	0.02
IGL02352:Adamtsl5	APN	10	80,343,728 (GRCm38)	critical splice acceptor site	probably null
IGL02359:Adamtsl5	APN	10	80,343,728 (GRCm38)	critical splice acceptor site	probably null
IGL02380:Adamtsl5	APN	10	80,341,778 (GRCm38)	missense	probably benign
IGL02898:Adamtsl5	APN	10	80,342,231 (GRCm38)	unclassified	probably benign
R1399:Adamtsl5	UTSW	10	80,341,208 (GRCm38)	missense	probably damaging	1.00
R1652:Adamtsl5	UTSW	10	80,342,177 (GRCm38)	missense	probably benign
R3433:Adamtsl5	UTSW	10	80,342,891 (GRCm38)	missense	probably benign
R4157:Adamtsl5	UTSW	10	80,345,322 (GRCm38)	missense	probably null	1.00
R4395:Adamtsl5	UTSW	10	80,344,902 (GRCm38)	missense	probably damaging	1.00
R5238:Adamtsl5	UTSW	10	80,345,358 (GRCm38)	missense	probably damaging	1.00
R5309:Adamtsl5	UTSW	10	80,345,148 (GRCm38)	intron	probably benign
R5608:Adamtsl5	UTSW	10	80,342,947 (GRCm38)	missense	probably benign	0.06
R6468:Adamtsl5	UTSW	10	80,341,913 (GRCm38)	missense	possibly damaging	0.65
R6885:Adamtsl5	UTSW	10	80,343,631 (GRCm38)	missense	probably benign	0.01
R7426:Adamtsl5	UTSW	10	80,344,859 (GRCm38)	missense	probably benign	0.10
R7843:Adamtsl5	UTSW	10	80,342,923 (GRCm38)	missense	probably damaging	1.00
R7900:Adamtsl5	UTSW	10	80,341,901 (GRCm38)	missense	probably damaging	0.97
R7988:Adamtsl5	UTSW	10	80,345,538 (GRCm38)	missense	probably benign
R8431:Adamtsl5	UTSW	10	80,345,394 (GRCm38)	missense	probably benign	0.01
R9653:Adamtsl5	UTSW	10	80,344,929 (GRCm38)	missense	probably damaging	1.00
R9762:Adamtsl5	UTSW	10	80,345,062 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTCCGTGCAACAACATTTCCTG -3'
(R):5'- ACTTGGTTCTGCCCACCTCAAATAC -3'

Sequencing Primer
(F):5'- AACTGTTGGCCTCTGGATAAGAC -3'
(R):5'- AAATACCCCTTGTTGGTTTGC -3'

Posted On

2013-06-11