Mutagenetix > Incidental Mutation

Incidental Mutation 'R1967:Adamts6'

219097

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

039980-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.831) question?

Stock #

R1967 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

104424343-104633203 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 104563459 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 650 (C650*)

Ref Sequence

ENSEMBL: ENSMUSP00000153359 (fasta)

Gene Model

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

AlphaFold

D3Z1A5

Predicted Effect

probably null
Transcript: ENSMUST00000065766
AA Change: C650*

SMART Domains

Protein: ENSMUSP00000064570
Gene: ENSMUSG00000046169
AA Change: C650*

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

Predicted Effect

probably null
Transcript: ENSMUST00000224208
AA Change: C650*

Predicted Effect

probably benign
Transcript: ENSMUST00000224303

Predicted Effect

probably benign
Transcript: ENSMUST00000224742

Predicted Effect

probably benign
Transcript: ENSMUST00000224784

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

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: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447A16Rik	A	C	15: 37,439,842 (GRCm39)		probably benign	Het
Abca6	T	C	11: 110,077,974 (GRCm39)	I1278V	probably benign	Het
Adamts15	C	T	9: 30,832,605 (GRCm39)	W310*	probably null	Het
Akap3	G	T	6: 126,842,061 (GRCm39)	G227C	probably benign	Het
Alox12e	A	T	11: 70,208,682 (GRCm39)	S457T	probably benign	Het
Angpt1	C	A	15: 42,301,703 (GRCm39)	C435F	probably damaging	Het
Anxa9	T	C	3: 95,207,919 (GRCm39)	Q207R	probably benign	Het
Aplnr	A	T	2: 84,967,950 (GRCm39)	D325V	probably benign	Het
Art2b	A	C	7: 101,229,414 (GRCm39)	F162V	probably damaging	Het
Atp13a4	A	G	16: 29,298,672 (GRCm39)	S96P	probably damaging	Het
Bnc1	A	T	7: 81,623,384 (GRCm39)	H614Q	probably benign	Het
C6	A	G	15: 4,789,302 (GRCm39)	D249G	probably damaging	Het
Camta1	A	T	4: 151,173,430 (GRCm39)	F977I	probably damaging	Het
Chil6	T	C	3: 106,298,470 (GRCm39)	S188G	possibly damaging	Het
Cntrob	A	T	11: 69,211,789 (GRCm39)	L145Q	probably damaging	Het
Coro7	T	C	16: 4,452,753 (GRCm39)	E306G	probably damaging	Het
Cplane1	T	G	15: 8,232,904 (GRCm39)	V1141G	probably benign	Het
Cpq	T	C	15: 33,497,348 (GRCm39)	S363P	possibly damaging	Het
Ctc1	A	G	11: 68,918,688 (GRCm39)		probably null	Het
Defb43	T	A	14: 63,255,246 (GRCm39)	N26K	probably benign	Het
Dennd1a	T	C	2: 37,734,845 (GRCm39)	T41A	probably benign	Het
Dnah11	A	C	12: 117,880,523 (GRCm39)	Y3866D	probably damaging	Het
Eml6	A	G	11: 29,974,545 (GRCm39)	L11P	probably damaging	Het
Epha5	A	G	5: 84,564,288 (GRCm39)	V26A	probably benign	Het
Fam13c	A	G	10: 70,387,565 (GRCm39)	D443G	probably damaging	Het
Fam227a	G	A	15: 79,521,335 (GRCm39)	L243F	possibly damaging	Het
Fat3	T	G	9: 15,879,591 (GRCm39)	R3301S	probably benign	Het
Fbxw20	T	C	9: 109,046,578 (GRCm39)	T461A	probably benign	Het
Fgf8	T	A	19: 45,730,007 (GRCm39)	S61C	probably damaging	Het
Fgfrl1	A	G	5: 108,852,871 (GRCm39)	E100G	probably damaging	Het
Gabra4	G	A	5: 71,729,412 (GRCm39)	S456F	possibly damaging	Het
Gas6	T	C	8: 13,520,317 (GRCm39)	E457G	probably damaging	Het
Gpr33	G	A	12: 52,070,991 (GRCm39)	S16L	probably benign	Het
Greb1l	A	C	18: 10,501,049 (GRCm39)	N393T	possibly damaging	Het
Gtpbp4	T	C	13: 9,027,340 (GRCm39)	K492E	probably benign	Het
Hsf2bp	A	T	17: 32,206,378 (GRCm39)	L251*	probably null	Het
Hyal5	A	T	6: 24,876,193 (GRCm39)	Q22L	possibly damaging	Het
Itih1	A	T	14: 30,663,941 (GRCm39)	V114E	possibly damaging	Het
Jak3	T	A	8: 72,134,179 (GRCm39)	I427N	probably damaging	Het
Jcad	T	C	18: 4,675,162 (GRCm39)	S975P	probably benign	Het
Kcng4	A	G	8: 120,359,662 (GRCm39)	V238A	probably damaging	Het
Klb	A	G	5: 65,529,417 (GRCm39)	D315G	probably damaging	Het
Klrh1	A	T	6: 129,752,798 (GRCm39)	N2K	possibly damaging	Het
Krt5	T	C	15: 101,620,094 (GRCm39)	N208D	probably benign	Het
Lmo7	T	A	14: 102,137,651 (GRCm39)	H551Q	probably benign	Het
Lrp8	G	T	4: 107,717,168 (GRCm39)	G732V	probably damaging	Het
Lrrc38	A	G	4: 143,096,553 (GRCm39)	D288G	unknown	Het
Lrrc4b	GAGAAG	GAG	7: 44,111,654 (GRCm39)		probably benign	Het
Mas1	A	G	17: 13,060,923 (GRCm39)	Y167H	probably benign	Het
Mcm8	A	C	2: 132,684,662 (GRCm39)	I759L	probably benign	Het
Med13l	G	A	5: 118,899,387 (GRCm39)	D2148N	probably damaging	Het
Muc20	A	T	16: 32,614,612 (GRCm39)	I255K	probably benign	Het
Myh1	A	G	11: 67,104,273 (GRCm39)	N980S	probably benign	Het
Nap1l4	T	A	7: 143,088,024 (GRCm39)	Q178L	probably damaging	Het
Ncapg	T	A	5: 45,857,252 (GRCm39)	L988Q	probably damaging	Het
Ncf2	A	T	1: 152,706,123 (GRCm39)	H245L	probably damaging	Het
Neurl4	A	G	11: 69,794,036 (GRCm39)	E164G	possibly damaging	Het
Nf1	G	A	11: 79,303,571 (GRCm39)	R416H	probably damaging	Het
Obscn	G	A	11: 59,026,535 (GRCm39)	Q223*	probably null	Het
Or10q1	T	A	19: 13,727,417 (GRCm39)	*316R	probably null	Het
Or2o1	T	C	11: 49,051,675 (GRCm39)	I278T	probably benign	Het
Pcdhb16	T	A	18: 37,612,715 (GRCm39)	N558K	probably damaging	Het
Pcnx2	A	T	8: 126,542,422 (GRCm39)	M1253K	possibly damaging	Het
Pla2g4a	A	G	1: 149,797,832 (GRCm39)	V22A	probably damaging	Het
Plppr5	G	A	3: 117,419,555 (GRCm39)		probably null	Het
Pnpla2	T	C	7: 141,039,345 (GRCm39)	S353P	probably benign	Het
Pom121	A	T	5: 135,420,608 (GRCm39)	L271Q	unknown	Het
Prepl	A	T	17: 85,395,979 (GRCm39)	M1K	probably null	Het
Prr14l	A	G	5: 33,001,813 (GRCm39)		probably benign	Het
Psmc3	C	A	2: 90,888,189 (GRCm39)	P325T	probably benign	Het
Psme2b	A	G	11: 48,836,896 (GRCm39)	V17A	probably damaging	Het
Ptpro	A	G	6: 137,393,863 (GRCm39)	I23V	probably benign	Het
Rab31	A	G	17: 66,079,499 (GRCm39)		probably null	Het
Ranbp6	T	A	19: 29,789,900 (GRCm39)	K151*	probably null	Het
Rbm12b1	A	T	4: 12,146,304 (GRCm39)	I759L	probably benign	Het
Rgs5	T	C	1: 169,504,425 (GRCm39)	I25T	probably benign	Het
Rnf213	T	C	11: 119,371,721 (GRCm39)	V4842A	probably damaging	Het
Rtl9	A	T	X: 141,886,037 (GRCm39)	I1150F	probably damaging	Het
Scn1a	A	T	2: 66,158,769 (GRCm39)	W384R	probably damaging	Het
Sema5a	C	T	15: 32,681,765 (GRCm39)	P948L	probably damaging	Het
Slc26a3	G	A	12: 31,515,777 (GRCm39)	R559Q	probably damaging	Het
Slc29a3	A	G	10: 60,552,243 (GRCm39)	V267A	probably benign	Het
Spata22	A	G	11: 73,221,953 (GRCm39)		probably benign	Het
Spata31e2	T	A	1: 26,722,454 (GRCm39)	I909L	probably benign	Het
Sptbn2	G	T	19: 4,795,327 (GRCm39)	R1595L	probably benign	Het
Tfdp1	T	C	8: 13,423,039 (GRCm39)	S315P	possibly damaging	Het
Tle1	A	T	4: 72,038,463 (GRCm39)	V688E	probably damaging	Het
Tmem129	A	T	5: 33,812,665 (GRCm39)		probably null	Het
Tmprss11a	G	A	5: 86,579,702 (GRCm39)	T91I	probably benign	Het
Tnfsf14	A	G	17: 57,497,807 (GRCm39)	Y142H	probably damaging	Het
Tph1	T	C	7: 46,311,538 (GRCm39)	D68G	probably benign	Het
Ttn	A	T	2: 76,592,631 (GRCm39)	S12507T	probably damaging	Het
Tubgcp2	T	A	7: 139,586,066 (GRCm39)	M408L	probably benign	Het
Usp34	A	T	11: 23,314,503 (GRCm39)	H815L	probably benign	Het
Usp6nl	G	A	2: 6,446,330 (GRCm39)	R746H	probably benign	Het
Utp20	A	G	10: 88,652,841 (GRCm39)	S358P	probably benign	Het
Vmn2r118	G	A	17: 55,899,882 (GRCm39)	T674I	probably damaging	Het
Vmn2r8	A	T	5: 108,950,249 (GRCm39)	H199Q	probably benign	Het
Vmn2r9	A	G	5: 108,995,388 (GRCm39)	V420A	probably benign	Het
Vmn2r99	A	T	17: 19,599,077 (GRCm39)	T254S	probably benign	Het
Zbed5	A	G	5: 129,930,510 (GRCm39)	H132R	possibly damaging	Het
Zfp568	A	G	7: 29,688,513 (GRCm39)	E25G	probably damaging	Het
Zfp951	T	A	5: 104,964,866 (GRCm39)	I67L	possibly 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
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
R6775:Adamts6	UTSW	13	104,450,160 (GRCm39)	missense	probably damaging	0.97
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'- TGGGTACACCTGAATGACTTAAAG -3'
(R):5'- GCTACTATCTGAGACAAGACAAGAC -3'

Sequencing Primer
(F):5'- ACCTGAATGACTTAAAGCACAAAG -3'
(R):5'- CCCCCAACAGAGAAGTAAAATCTGAG -3'

Posted On

2014-08-25