Mutagenetix > Incidental Mutations

Incidental Mutation 'R0362:Adamts6'

36286

Institutional Source

Beutler Lab

Gene Symbol

Adamts6

Ensembl Gene

ENSMUSG00000046169

Gene Name

a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 6

Synonyms

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

MMRRC Submission

038568-MU

Accession Numbers

NCBI RefSeq: NM_001081020.1; MGI: 1347348

Is this an essential gene?

Probably essential (E-score: 0.850) question?

Stock #

R0362 (G1)

Quality Score

214

Status

Validated

Chromosome

Chromosomal Location

104287835-104496695 bp(+) (GRCm38)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

A to G at 104390076 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000153359 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000065766

SMART Domains

Protein: ENSMUSP00000064570
Gene: ENSMUSG00000046169

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 null
Transcript: ENSMUST00000065766

SMART Domains

Protein: ENSMUSP00000064570
Gene: ENSMUSG00000046169

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

Predicted Effect

probably null
Transcript: ENSMUST00000224208

Predicted Effect

probably benign
Transcript: ENSMUST00000224303

Predicted Effect

probably benign
Transcript: ENSMUST00000224742

Predicted Effect

probably benign
Transcript: ENSMUST00000224784

Meta Mutation Damage Score

0.9498

Coding Region Coverage

1x: 99.4%
3x: 98.6%
10x: 96.8%
20x: 94.0%

Validation Efficiency

99% (104/105)

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
4932414N04Rik	A	G	2: 68,732,917	Q401R	probably benign	Het
Acpp	A	G	9: 104,314,427	F220S	probably damaging	Het
Adam7	A	G	14: 68,509,656		probably benign	Het
Ascc3	T	C	10: 50,748,955		probably benign	Het
Atg10	T	C	13: 91,040,990		probably null	Het
Atm	T	C	9: 53,458,838	I2325V	possibly damaging	Het
Btnl9	C	T	11: 49,169,616	R435H	possibly damaging	Het
Ccdc180	A	G	4: 45,923,551	K1111E	probably damaging	Het
Col11a2	T	A	17: 34,062,446		probably null	Het
Ctcfl	A	G	2: 173,118,443	W116R	probably damaging	Het
Ctsk	A	T	3: 95,500,944	Y37F	probably damaging	Het
Daam2	G	C	17: 49,480,785		probably null	Het
Dcdc2b	T	C	4: 129,610,238		probably null	Het
Ddx28	C	T	8: 106,011,294	R44Q	probably damaging	Het
Dhx29	T	A	13: 112,962,859	N1139K	probably benign	Het
Dnah17	A	T	11: 118,098,539	M1281K	probably benign	Het
Dnah6	T	C	6: 73,208,609	S110G	probably benign	Het
Drc7	T	C	8: 95,072,855	Y553H	probably benign	Het
Dync2h1	T	C	9: 7,005,487		probably null	Het
Ecm1	A	G	3: 95,737,057	I152T	possibly damaging	Het
Edc4	C	G	8: 105,886,775	P307R	probably damaging	Het
Egr1	A	G	18: 34,863,313	T383A	possibly damaging	Het
Eml2	A	G	7: 19,190,806		probably null	Het
Eno4	A	G	19: 58,943,624		probably benign	Het
Erbb4	A	T	1: 68,330,270	I404K	probably damaging	Het
Exoc7	G	T	11: 116,295,662	T310K	probably benign	Het
Fam102b	C	T	3: 108,980,181	E256K	probably benign	Het
Fam83e	G	T	7: 45,726,969	V369L	probably benign	Het
Fam96b	T	C	8: 104,641,590	D34G	probably null	Het
Fancc	A	T	13: 63,398,156	I91K	possibly damaging	Het
Fbn1	T	C	2: 125,309,777	Q2519R	probably damaging	Het
Fhod3	T	A	18: 25,090,076	C826*	probably null	Het
Foxi3	A	G	6: 70,956,628	D33G	probably benign	Het
Gcn1l1	T	C	5: 115,576,108		probably benign	Het
Gm14221	T	C	2: 160,568,390		noncoding transcript	Het
Golga4	T	A	9: 118,555,785	H630Q	probably benign	Het
Gpat4	T	C	8: 23,180,933	S88G	probably benign	Het
Gucy2d	A	T	7: 98,443,685	S90C	probably damaging	Het
Has2	A	C	15: 56,681,661	C182G	probably damaging	Het
Heatr5a	A	T	12: 51,888,861	S1647R	probably damaging	Het
Ifi35	T	C	11: 101,457,212	V48A	probably benign	Het
Lig1	T	A	7: 13,296,804		probably benign	Het
Magi2	A	G	5: 19,227,575	K96R	probably damaging	Het
Map7d1	G	T	4: 126,234,994	P462Q	probably damaging	Het
Mdn1	A	T	4: 32,746,439		probably null	Het
Mfsd4a	A	T	1: 132,059,275	V105E	probably damaging	Het
Mrpl53	C	T	6: 83,109,545	R77C	probably damaging	Het
Mtnr1b	C	T	9: 15,874,304	V53M	probably damaging	Het
Myo9b	T	C	8: 71,347,770	W990R	probably damaging	Het
Myt1	A	T	2: 181,763,393		probably benign	Het
Nf1	C	T	11: 79,536,878	A1766V	probably damaging	Het
Nlrp3	T	C	11: 59,548,797	V400A	possibly damaging	Het
Nup205	T	A	6: 35,196,714		probably null	Het
Nxf1	T	C	19: 8,764,151		probably null	Het
Olfr1352	A	T	10: 78,984,386	M199L	probably benign	Het
P4hb	T	C	11: 120,563,336	K311E	probably benign	Het
Pafah1b1	T	C	11: 74,683,631	N243S	probably benign	Het
Parp8	G	A	13: 116,924,968	Q141*	probably null	Het
Pkd2l2	A	C	18: 34,435,327	D543A	probably benign	Het
Pld5	A	T	1: 175,975,580	L311*	probably null	Het
Plekha5	G	A	6: 140,591,747	R646K	possibly damaging	Het
Plpp5	A	T	8: 25,724,192	T144S	probably benign	Het
Ppp6r3	A	G	19: 3,478,285	L542S	probably damaging	Het
Prkar2b	A	T	12: 31,987,974		probably null	Het
Psmg1	A	T	16: 95,987,971	S129T	possibly damaging	Het
Radil	T	C	5: 142,543,827	D38G	probably benign	Het
Ric1	T	C	19: 29,601,011		probably null	Het
Rp1l1	T	A	14: 64,031,066	L1367*	probably null	Het
Rxfp1	A	T	3: 79,737,793	M1K	probably null	Het
Serpina6	G	T	12: 103,651,949	L202I	probably damaging	Het
Simc1	T	C	13: 54,528,467	I98T	probably damaging	Het
Slc17a6	A	G	7: 51,658,771	Y281C	probably damaging	Het
Slc26a11	T	A	11: 119,379,941		probably benign	Het
Slc34a1	T	A	13: 55,402,898		probably null	Het
Slfn10-ps	T	A	11: 83,035,774		noncoding transcript	Het
Sohlh2	A	G	3: 55,207,742	N383D	probably damaging	Het
Spag6	T	A	2: 18,710,491	L27H	probably damaging	Het
Sptlc3	A	G	2: 139,546,555		probably benign	Het
St3gal4	T	A	9: 35,053,173	K199*	probably null	Het
Stat5a	T	A	11: 100,882,083	D712E	probably benign	Het
Stmn2	A	T	3: 8,545,690	D78V	probably damaging	Het
Stpg1	C	T	4: 135,506,466	P20S	possibly damaging	Het
Taf2	A	T	15: 55,045,929	V640E	probably damaging	Het
Tbce	T	C	13: 13,998,162	E501G	probably benign	Het
Tecpr2	A	G	12: 110,968,940	S1398G	probably damaging	Het
Tenm4	T	A	7: 96,772,035	Y598*	probably null	Het
Ticrr	A	G	7: 79,677,340	S599G	probably damaging	Het
Tnc	A	C	4: 64,017,442	V419G	probably damaging	Het
Trappc1	C	A	11: 69,325,576	P110T	probably benign	Het
Trbv12-2	C	T	6: 41,119,059		probably benign	Het
Ttbk2	A	T	2: 120,745,783	N835K	possibly damaging	Het
Tubgcp5	A	G	7: 55,800,684	D181G	probably damaging	Het
Tut1	T	C	19: 8,955,527	Y75H	possibly damaging	Het
Ulk2	C	A	11: 61,787,586	C769F	probably benign	Het
Vdac1	T	C	11: 52,374,973		probably benign	Het
Vmn2r124	T	C	17: 18,064,224		probably null	Het
Vps8	T	C	16: 21,608,227		probably benign	Het
Wdr35	T	C	12: 8,995,625		probably benign	Het
Zdhhc7	T	A	8: 120,086,647	E141V	probably null	Het
Zfp12	C	A	5: 143,245,223	S435Y	probably damaging	Het
Zfp974	A	T	7: 27,927,394		probably benign	Het
Zfyve9	T	A	4: 108,680,969	K1033N	probably damaging	Het
Zswim8	T	A	14: 20,721,945	S1572T	possibly damaging	Het

Other mutations in Adamts6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00228:Adamts6	APN	13	104429790	missense	possibly damaging	0.79
IGL00583:Adamts6	APN	13	104297218	nonsense	probably null
IGL01305:Adamts6	APN	13	104390082	missense	probably damaging	1.00
IGL01448:Adamts6	APN	13	104297164	missense	probably damaging	1.00
IGL01517:Adamts6	APN	13	104390192	splice site	probably benign
IGL01678:Adamts6	APN	13	104313688	missense	probably damaging	1.00
IGL01737:Adamts6	APN	13	104390135	missense	probably damaging	0.99
IGL02152:Adamts6	APN	13	104313660	missense	probably null	1.00
IGL02217:Adamts6	APN	13	104462365	splice site	probably benign
IGL02828:Adamts6	APN	13	104297470	missense	probably damaging	1.00
IGL03067:Adamts6	APN	13	104297275	missense	probably damaging	1.00
IGL03081:Adamts6	APN	13	104444956	utr 3 prime	probably benign
IGL03159:Adamts6	APN	13	104444215	missense	probably damaging	1.00
IGL03411:Adamts6	APN	13	104314334	missense	possibly damaging	0.77
ANU22:Adamts6	UTSW	13	104390082	missense	probably damaging	1.00
P0007:Adamts6	UTSW	13	104297491	missense	possibly damaging	0.73
R0504:Adamts6	UTSW	13	104426930	splice site	probably benign
R0549:Adamts6	UTSW	13	104297255	missense	possibly damaging	0.60
R0566:Adamts6	UTSW	13	104444927	missense	probably benign	0.00
R0703:Adamts6	UTSW	13	104352847	missense	probably damaging	1.00
R0799:Adamts6	UTSW	13	104314271	missense	probably damaging	1.00
R0838:Adamts6	UTSW	13	104413789	missense	possibly damaging	0.47
R1500:Adamts6	UTSW	13	104312881	missense	probably damaging	1.00
R1502:Adamts6	UTSW	13	104493637	missense	probably damaging	1.00
R1547:Adamts6	UTSW	13	104444875	missense	probably benign	0.26
R1619:Adamts6	UTSW	13	104312777	missense	probably benign	0.14
R1727:Adamts6	UTSW	13	104428964	splice site	probably benign
R1967:Adamts6	UTSW	13	104426951	nonsense	probably null
R2013:Adamts6	UTSW	13	104314304	missense	probably damaging	0.98
R2079:Adamts6	UTSW	13	104462238	missense	probably benign	0.00
R2432:Adamts6	UTSW	13	104426977	missense	probably benign	0.01
R3118:Adamts6	UTSW	13	104314279	missense	possibly damaging	0.91
R4125:Adamts6	UTSW	13	104312904	missense	probably damaging	1.00
R4274:Adamts6	UTSW	13	104314279	missense	possibly damaging	0.91
R4795:Adamts6	UTSW	13	104444128	nonsense	probably null
R4841:Adamts6	UTSW	13	104312787	missense	probably benign	0.00
R4976:Adamts6	UTSW	13	104297490	missense	probably damaging	0.98
R5085:Adamts6	UTSW	13	104307243	missense	probably damaging	0.99
R5234:Adamts6	UTSW	13	104493622	missense	probably damaging	1.00
R5403:Adamts6	UTSW	13	104352815	missense	possibly damaging	0.86
R5753:Adamts6	UTSW	13	104347350	missense	probably damaging	1.00
R6027:Adamts6	UTSW	13	104479535	missense	probably damaging	1.00
R6187:Adamts6	UTSW	13	104297425	missense	probably damaging	1.00
R6229:Adamts6	UTSW	13	104347392	critical splice donor site	probably null
R6243:Adamts6	UTSW	13	104314301	missense	probably damaging	0.99
R6257:Adamts6	UTSW	13	104462282	missense	probably benign
R6743:Adamts6	UTSW	13	104428928	missense	probably damaging	1.00
R6775:Adamts6	UTSW	13	104313652	missense	probably damaging	0.97
R7113:Adamts6	UTSW	13	104312759	missense	probably benign
R7351:Adamts6	UTSW	13	104390112	missense	possibly damaging	0.63
R7520:Adamts6	UTSW	13	104297186	missense	probably benign	0.01
R7866:Adamts6	UTSW	13	104413749	nonsense	probably null
R7949:Adamts6	UTSW	13	104413749	nonsense	probably null
X0065:Adamts6	UTSW	13	104493628	missense	probably damaging	1.00

Predicted Primers

Posted On

2013-05-09