Mutagenetix > Incidental Mutation

Incidental Mutation 'R1727:Adamts6'

198265

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

039759-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.831) question?

Stock #

R1727 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

104424343-104633203 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 104565472 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000153665 (fasta)

Gene Model

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

AlphaFold

D3Z1A5

Predicted Effect

probably benign
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 benign
Transcript: ENSMUST00000224208

Predicted Effect

probably benign
Transcript: ENSMUST00000224303

Predicted Effect

probably benign
Transcript: ENSMUST00000224742

Predicted Effect

probably benign
Transcript: ENSMUST00000224784

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.3%

Validation Efficiency

96% (98/102)

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: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ak2	C	T	4: 128,901,556 (GRCm39)	P159L	probably damaging	Het
Akap8l	C	T	17: 32,551,457 (GRCm39)	R511H	probably damaging	Het
Akr1a1	A	G	4: 116,498,248 (GRCm39)	L99P	probably damaging	Het
Anxa8	T	A	14: 33,811,547 (GRCm39)	M34K	probably damaging	Het
Axl	T	G	7: 25,460,191 (GRCm39)	D767A	possibly damaging	Het
B430305J03Rik	A	G	3: 61,271,299 (GRCm39)		probably benign	Het
Cdh24	A	T	14: 54,876,095 (GRCm39)	Y182*	probably null	Het
Cdk5rap2	T	C	4: 70,190,916 (GRCm39)	D1043G	probably benign	Het
Cdk5rap2	A	T	4: 70,208,209 (GRCm39)	S746T	possibly damaging	Het
Cep120	T	C	18: 53,860,801 (GRCm39)	M210V	probably benign	Het
Chga	C	T	12: 102,527,696 (GRCm39)	H117Y	possibly damaging	Het
Cnga4	T	C	7: 105,054,961 (GRCm39)	W79R	probably damaging	Het
Cntnap5b	C	T	1: 100,141,469 (GRCm39)	T575I	possibly damaging	Het
Col6a3	T	A	1: 90,724,296 (GRCm39)		probably null	Het
Copz2	T	C	11: 96,744,301 (GRCm39)	V71A	probably benign	Het
Dennd3	G	T	15: 73,436,977 (GRCm39)	R1068L	possibly damaging	Het
Dhrs7	T	C	12: 72,706,238 (GRCm39)	T56A	probably damaging	Het
Dnah17	G	A	11: 117,961,315 (GRCm39)	T2557I	probably damaging	Het
Dnah17	A	T	11: 117,987,362 (GRCm39)	L1320*	probably null	Het
Dynlt2b	T	A	16: 32,241,751 (GRCm39)	M78K	probably benign	Het
Eif3b	T	C	5: 140,411,077 (GRCm39)	I176T	probably damaging	Het
Eif4b	T	A	15: 101,998,497 (GRCm39)	D392E	possibly damaging	Het
Eif4h	T	C	5: 134,668,134 (GRCm39)	Y7C	probably damaging	Het
Enam	A	T	5: 88,651,853 (GRCm39)	S1046C	probably damaging	Het
Epg5	T	A	18: 78,059,030 (GRCm39)	V1928E	possibly damaging	Het
Erbin	T	A	13: 103,964,476 (GRCm39)	E1222V	probably benign	Het
Fhdc1	T	A	3: 84,353,483 (GRCm39)	I581F	possibly damaging	Het
Fhip2b	C	A	14: 70,831,438 (GRCm39)	G32V	probably damaging	Het
Fstl4	A	C	11: 52,959,478 (GRCm39)	Q173P	probably damaging	Het
Gm266	A	G	12: 111,451,913 (GRCm39)	F98L	possibly damaging	Het
Gsdmc2	T	C	15: 63,721,628 (GRCm39)		probably benign	Het
Gtf2h3	A	G	5: 124,728,419 (GRCm39)	Q156R	probably benign	Het
H2-T23	T	C	17: 36,342,545 (GRCm39)	T198A	possibly damaging	Het
Il1r1	C	A	1: 40,332,424 (GRCm39)	A68E	probably benign	Het
Kcna7	A	T	7: 45,058,930 (GRCm39)	I406F	possibly damaging	Het
Lbr	A	G	1: 181,647,481 (GRCm39)	I432T	probably benign	Het
Lnx1	A	T	5: 74,768,577 (GRCm39)		probably null	Het
Lrrcc1	T	A	3: 14,602,423 (GRCm39)	I50N	probably damaging	Het
Lss	T	C	10: 76,375,678 (GRCm39)	V237A	possibly damaging	Het
Mcm10	A	G	2: 5,011,336 (GRCm39)	F212L	probably benign	Het
Methig1	A	C	15: 100,251,130 (GRCm39)	I14L	probably benign	Het
Mrpl41	A	T	2: 24,864,636 (GRCm39)	V55E	probably damaging	Het
Mtfp1	C	A	11: 4,043,982 (GRCm39)	D83Y	probably damaging	Het
Myh1	T	A	11: 67,101,292 (GRCm39)		probably benign	Het
Myo1e	T	C	9: 70,283,806 (GRCm39)	F834S	possibly damaging	Het
Ndufs7	A	T	10: 80,091,853 (GRCm39)		probably benign	Het
Nlrp4e	T	A	7: 23,020,420 (GRCm39)	N302K	probably benign	Het
Nt5e	T	A	9: 88,210,082 (GRCm39)	M115K	possibly damaging	Het
Nup153	A	T	13: 46,847,261 (GRCm39)	C723S	probably damaging	Het
Obox6	G	A	7: 15,568,502 (GRCm39)	P125S	probably benign	Het
Or1n2	G	A	2: 36,797,405 (GRCm39)	C149Y	probably benign	Het
Or2t48	A	T	11: 58,420,342 (GRCm39)	S157T	possibly damaging	Het
Or52n3	C	T	7: 104,530,721 (GRCm39)	T269I	probably benign	Het
Or5an11	T	G	19: 12,246,365 (GRCm39)	I257S	possibly damaging	Het
Or8i2	A	G	2: 86,852,607 (GRCm39)	F94L	probably damaging	Het
Pcdh1	A	C	18: 38,336,085 (GRCm39)	Y44*	probably null	Het
Pcdhb6	A	T	18: 37,467,640 (GRCm39)	D187V	probably damaging	Het
Pclo	A	G	5: 14,727,001 (GRCm39)		probably benign	Het
Pdcl3	T	A	1: 39,034,836 (GRCm39)	I80K	possibly damaging	Het
Pde12	A	T	14: 26,390,022 (GRCm39)	V229E	probably benign	Het
Plcg1	A	G	2: 160,590,008 (GRCm39)	E142G	probably benign	Het
Plxnb1	A	G	9: 108,930,125 (GRCm39)		probably null	Het
Pnpla1	A	G	17: 29,097,508 (GRCm39)	I225V	probably benign	Het
Polr2f	A	G	15: 79,028,805 (GRCm39)		probably benign	Het
Prob1	A	G	18: 35,787,364 (GRCm39)	S297P	possibly damaging	Het
Qsox2	A	C	2: 26,110,970 (GRCm39)	S132A	probably benign	Het
Rab19	T	A	6: 39,365,095 (GRCm39)	Y118*	probably null	Het
Rfwd3	C	T	8: 112,014,874 (GRCm39)	R326Q	probably damaging	Het
Rptn	T	C	3: 93,304,445 (GRCm39)	S593P	possibly damaging	Het
Septin11	T	C	5: 93,304,783 (GRCm39)	I200T	probably damaging	Het
Slc10a4	T	A	5: 73,173,491 (GRCm39)		probably benign	Het
Slc9c1	A	T	16: 45,422,324 (GRCm39)	I1130F	probably benign	Het
Slit3	C	T	11: 35,520,659 (GRCm39)	R599C	probably damaging	Het
Snx19	C	T	9: 30,344,662 (GRCm39)	P622L	probably damaging	Het
Sspo	T	C	6: 48,471,782 (GRCm39)	L50P	probably damaging	Het
St8sia1	A	T	6: 142,822,453 (GRCm39)	C137S	probably damaging	Het
Syt11	G	C	3: 88,669,259 (GRCm39)	T211S	possibly damaging	Het
Tanc1	A	C	2: 59,621,153 (GRCm39)	Y324S	probably damaging	Het
Tas2r136	T	C	6: 132,754,753 (GRCm39)	I125V	possibly damaging	Het
Tbc1d15	A	T	10: 115,046,130 (GRCm39)	W458R	probably damaging	Het
Tecta	G	T	9: 42,270,597 (GRCm39)	T1237N	probably damaging	Het
Tet2	T	A	3: 133,193,051 (GRCm39)	D461V	probably damaging	Het
Tmco3	G	A	8: 13,368,866 (GRCm39)	V573M	possibly damaging	Het
Tmem212	A	T	3: 27,938,961 (GRCm39)	M175K	probably benign	Het
Traf6	A	G	2: 101,527,084 (GRCm39)	H278R	probably benign	Het
Trerf1	T	A	17: 47,652,092 (GRCm39)		noncoding transcript	Het
Ttn	A	C	2: 76,576,988 (GRCm39)	V24635G	probably damaging	Het
Ush1c	A	T	7: 45,858,655 (GRCm39)	D544E	probably damaging	Het
Usp47	C	T	7: 111,685,307 (GRCm39)	T586M	probably damaging	Het
Vmn2r1	T	A	3: 63,989,163 (GRCm39)	M34K	probably benign	Het
Vmn2r102	T	A	17: 19,897,770 (GRCm39)	W262R	probably damaging	Het
Wasf3	C	T	5: 146,403,769 (GRCm39)	A293V	probably benign	Het
Xrn2	A	G	2: 146,903,436 (GRCm39)	Q812R	probably benign	Het
Zc3h7b	T	C	15: 81,652,230 (GRCm39)	I10T	probably damaging	Het
Zfp747	A	T	7: 126,973,249 (GRCm39)	L307Q	probably damaging	Het
Zfp777	A	T	6: 48,020,824 (GRCm39)	F266Y	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
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
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'- TCAGTAGTGTCCACTCTGTTAGAGCC -3'
(R):5'- TCTTCAACAAACTGTTCTCCCCAAAGG -3'

Sequencing Primer
(F):5'- TTAGAAATGTTAACTACGGGCTGG -3'
(R):5'- TGTTCTCCCCAAAGGCTAAG -3'

Posted On

2014-05-23