Mutagenetix > Incidental Mutation

Incidental Mutation 'R6775:Adamts6'

532339

Institutional Source

Beutler Lab

Gene Symbol

Adamts6

Ensembl Gene

ENSMUSG00000046169

Gene Name

ADAM metallopeptidase with thrombospondin type 1 motif 6

Synonyms

b2b2029Clo, b2b2182Clo, b2b2187.1Clo, b2b1879.1Clo, A930019D11Rik, ADAM-TS6, b2b2228Clo

MMRRC Submission

044891-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.831) question?

Stock #

R6775 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

104424343-104633203 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 104450160 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 289 (V289M)

Ref Sequence

ENSEMBL: ENSMUSP00000152936 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065766] [ENSMUST00000223562] [ENSMUST00000224208] [ENSMUST00000224303] [ENSMUST00000224504] [ENSMUST00000224742] [ENSMUST00000224784]

AlphaFold

D3Z1A5

Predicted Effect

probably benign
Transcript: ENSMUST00000065766
AA Change: R287H

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000064570
Gene: ENSMUSG00000046169
AA Change: R287H

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Pfam:Pep_M12B_propep	43	191	4.2e-40	PFAM
Pfam:Reprolysin_5	248	443	3.8e-17	PFAM
Pfam:Reprolysin_4	248	464	4.9e-12	PFAM
Pfam:Reprolysin	250	468	1.6e-27	PFAM
Pfam:Reprolysin_2	268	458	5.6e-15	PFAM
Pfam:Reprolysin_3	272	414	2.6e-14	PFAM
TSP1	561	613	3.98e-13	SMART
Pfam:ADAM_spacer1	717	829	2.9e-41	PFAM
TSP1	843	900	2.49e-5	SMART
TSP1	902	960	2.87e-5	SMART
TSP1	963	1018	1.36e-1	SMART
TSP1	1021	1069	2.36e-6	SMART
Pfam:PLAC	1083	1115	3.9e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000223562
AA Change: R287H

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

probably benign
Transcript: ENSMUST00000224208
AA Change: R287H

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

Predicted Effect

probably damaging
Transcript: ENSMUST00000224303
AA Change: V289M

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000224504
AA Change: V93M

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000224742
AA Change: V289M

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000224784
AA Change: R287H

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature enzyme. Expression of this gene may be regulated by the cytokine TNF-alpha. [provided by RefSeq, Mar 2016]
PHENOTYPE: Mice homozygous for induced mutations exhibit cardiovascular defects including double outlet right ventricle, ventricular septal defects and biventricular hypertrophy, and hydrops, thymus hypoplasia short snout and cleft palate. [provided by MGI curators]

Allele List at MGI

All alleles(1) : Targeted(1)

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp10b	A	G	11: 43,113,040 (GRCm39)	D862G	possibly damaging	Het
Ccn6	T	C	10: 39,027,351 (GRCm39)	T294A	probably damaging	Het
Colec10	A	G	15: 54,298,419 (GRCm39)	E60G	possibly damaging	Het
Cpne1	A	G	2: 155,920,340 (GRCm39)	V179A	probably damaging	Het
Galnt9	G	A	5: 110,768,465 (GRCm39)	R587H	probably damaging	Het
Gmip	A	G	8: 70,268,285 (GRCm39)	D423G	possibly damaging	Het
Ints15	C	A	5: 143,297,493 (GRCm39)	V185L	probably benign	Het
Klk1b24	A	G	7: 43,840,889 (GRCm39)	M106V	probably benign	Het
Or14c39	A	G	7: 86,344,357 (GRCm39)	E231G	probably benign	Het
Or7g30	A	T	9: 19,352,718 (GRCm39)	T170S	possibly damaging	Het
Or8k40	G	A	2: 86,584,921 (GRCm39)	R54C	probably damaging	Het
Orc1	T	A	4: 108,460,652 (GRCm39)	F496I	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Phf11b	A	T	14: 59,576,094 (GRCm39)	N47K	probably benign	Het
Plscr4	G	A	9: 92,364,858 (GRCm39)	M94I	probably benign	Het
Ppip5k2	A	T	1: 97,647,585 (GRCm39)	V1047E	possibly damaging	Het
Scn3a	A	G	2: 65,352,159 (GRCm39)	Y384H	possibly damaging	Het
Sgpp1	G	C	12: 75,782,243 (GRCm39)	P32R	probably benign	Het
Smc1b	T	C	15: 84,973,881 (GRCm39)	E925G	probably damaging	Het
Sorl1	A	G	9: 42,003,748 (GRCm39)	Y183H	possibly damaging	Het
Tarbp1	A	C	8: 127,163,568 (GRCm39)	D1151E	probably benign	Het
Vmn2r3	T	C	3: 64,183,039 (GRCm39)	H220R	possibly damaging	Het
Wdr5	A	G	2: 27,423,386 (GRCm39)	Y260C	probably damaging	Het

Other mutations in Adamts6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00228:Adamts6	APN	13	104,566,298 (GRCm39)	missense	possibly damaging	0.79
IGL00583:Adamts6	APN	13	104,433,726 (GRCm39)	nonsense	probably null
IGL01305:Adamts6	APN	13	104,526,590 (GRCm39)	missense	probably damaging	1.00
IGL01448:Adamts6	APN	13	104,433,672 (GRCm39)	missense	probably damaging	1.00
IGL01517:Adamts6	APN	13	104,526,700 (GRCm39)	splice site	probably benign
IGL01678:Adamts6	APN	13	104,450,196 (GRCm39)	missense	probably damaging	1.00
IGL01737:Adamts6	APN	13	104,526,643 (GRCm39)	missense	probably damaging	0.99
IGL02152:Adamts6	APN	13	104,450,168 (GRCm39)	missense	probably null	1.00
IGL02217:Adamts6	APN	13	104,598,873 (GRCm39)	splice site	probably benign
IGL02828:Adamts6	APN	13	104,433,978 (GRCm39)	missense	probably damaging	1.00
IGL03067:Adamts6	APN	13	104,433,783 (GRCm39)	missense	probably damaging	1.00
IGL03081:Adamts6	APN	13	104,581,464 (GRCm39)	utr 3 prime	probably benign
IGL03159:Adamts6	APN	13	104,580,723 (GRCm39)	missense	probably damaging	1.00
IGL03411:Adamts6	APN	13	104,450,842 (GRCm39)	missense	possibly damaging	0.77
De_vito	UTSW	13	104,483,900 (GRCm39)	critical splice donor site	probably null
festinator	UTSW	13	104,616,043 (GRCm39)	missense	probably damaging	1.00
ANU22:Adamts6	UTSW	13	104,526,590 (GRCm39)	missense	probably damaging	1.00
P0007:Adamts6	UTSW	13	104,433,999 (GRCm39)	missense	possibly damaging	0.73
R0362:Adamts6	UTSW	13	104,526,584 (GRCm39)	critical splice acceptor site	probably null
R0504:Adamts6	UTSW	13	104,563,438 (GRCm39)	splice site	probably benign
R0549:Adamts6	UTSW	13	104,433,763 (GRCm39)	missense	possibly damaging	0.60
R0566:Adamts6	UTSW	13	104,581,435 (GRCm39)	missense	probably benign	0.00
R0703:Adamts6	UTSW	13	104,489,355 (GRCm39)	missense	probably damaging	1.00
R0799:Adamts6	UTSW	13	104,450,779 (GRCm39)	missense	probably damaging	1.00
R0838:Adamts6	UTSW	13	104,550,297 (GRCm39)	missense	possibly damaging	0.47
R1500:Adamts6	UTSW	13	104,449,389 (GRCm39)	missense	probably damaging	1.00
R1502:Adamts6	UTSW	13	104,630,145 (GRCm39)	missense	probably damaging	1.00
R1547:Adamts6	UTSW	13	104,581,383 (GRCm39)	missense	probably benign	0.26
R1619:Adamts6	UTSW	13	104,449,285 (GRCm39)	missense	probably benign	0.14
R1727:Adamts6	UTSW	13	104,565,472 (GRCm39)	splice site	probably benign
R1967:Adamts6	UTSW	13	104,563,459 (GRCm39)	nonsense	probably null
R2013:Adamts6	UTSW	13	104,450,812 (GRCm39)	missense	probably damaging	0.98
R2079:Adamts6	UTSW	13	104,598,746 (GRCm39)	missense	probably benign	0.00
R2432:Adamts6	UTSW	13	104,563,485 (GRCm39)	missense	probably benign	0.01
R3118:Adamts6	UTSW	13	104,450,787 (GRCm39)	missense	possibly damaging	0.91
R4125:Adamts6	UTSW	13	104,449,412 (GRCm39)	missense	probably damaging	1.00
R4274:Adamts6	UTSW	13	104,450,787 (GRCm39)	missense	possibly damaging	0.91
R4795:Adamts6	UTSW	13	104,580,636 (GRCm39)	nonsense	probably null
R4841:Adamts6	UTSW	13	104,449,295 (GRCm39)	missense	probably benign	0.00
R4976:Adamts6	UTSW	13	104,433,998 (GRCm39)	missense	probably damaging	0.98
R5085:Adamts6	UTSW	13	104,443,751 (GRCm39)	missense	probably damaging	0.99
R5234:Adamts6	UTSW	13	104,630,130 (GRCm39)	missense	probably damaging	1.00
R5403:Adamts6	UTSW	13	104,489,323 (GRCm39)	missense	possibly damaging	0.86
R5753:Adamts6	UTSW	13	104,483,858 (GRCm39)	missense	probably damaging	1.00
R6027:Adamts6	UTSW	13	104,616,043 (GRCm39)	missense	probably damaging	1.00
R6187:Adamts6	UTSW	13	104,433,933 (GRCm39)	missense	probably damaging	1.00
R6229:Adamts6	UTSW	13	104,483,900 (GRCm39)	critical splice donor site	probably null
R6243:Adamts6	UTSW	13	104,450,809 (GRCm39)	missense	probably damaging	0.99
R6257:Adamts6	UTSW	13	104,598,790 (GRCm39)	missense	probably benign
R6743:Adamts6	UTSW	13	104,565,436 (GRCm39)	missense	probably damaging	1.00
R7113:Adamts6	UTSW	13	104,449,267 (GRCm39)	missense	probably benign
R7351:Adamts6	UTSW	13	104,526,620 (GRCm39)	missense	possibly damaging	0.63
R7520:Adamts6	UTSW	13	104,433,694 (GRCm39)	missense	probably benign	0.01
R7866:Adamts6	UTSW	13	104,550,257 (GRCm39)	nonsense	probably null
R8274:Adamts6	UTSW	13	104,450,181 (GRCm39)	missense	probably benign	0.02
R8348:Adamts6	UTSW	13	104,616,027 (GRCm39)	missense	probably damaging	0.99
R8448:Adamts6	UTSW	13	104,616,027 (GRCm39)	missense	probably damaging	0.99
R8686:Adamts6	UTSW	13	104,450,207 (GRCm39)	missense	probably damaging	1.00
R8691:Adamts6	UTSW	13	104,450,839 (GRCm39)	missense	probably benign	0.00
R8962:Adamts6	UTSW	13	104,433,899 (GRCm39)	missense	probably damaging	0.99
R8978:Adamts6	UTSW	13	104,512,247 (GRCm39)	missense	probably damaging	1.00
R9075:Adamts6	UTSW	13	104,598,793 (GRCm39)	missense	probably benign
R9080:Adamts6	UTSW	13	104,449,427 (GRCm39)	missense	probably damaging	1.00
R9152:Adamts6	UTSW	13	104,613,275 (GRCm39)	missense	probably benign	0.06
R9213:Adamts6	UTSW	13	104,581,440 (GRCm39)	missense	probably damaging	1.00
R9536:Adamts6	UTSW	13	104,489,313 (GRCm39)	missense	probably benign	0.07
R9674:Adamts6	UTSW	13	104,563,448 (GRCm39)	missense	probably benign	0.17
X0065:Adamts6	UTSW	13	104,630,136 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCTTTAACCAAAGCCTCTTGAAATGG -3'
(R):5'- TTGTCGTCAGGTAAGTCGTAC -3'

Sequencing Primer
(F):5'- CCAAAGCCTCTTGAAATGGTACTGG -3'
(R):5'- GTCGTCAGGTAAGTCGTACAAATC -3'

Posted On

2018-08-29