Mutagenetix > Incidental Mutations

Incidental Mutation 'R2045:Adamts1'

221888

Institutional Source

Beutler Lab

Gene Symbol

Adamts1

Ensembl Gene

ENSMUSG00000022893

Gene Name

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

Synonyms

METH1, ADAMTS-1, ADAM-TS1, METH-1

MMRRC Submission

040052-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2045 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

85793827-85803113 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 85795976 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 515 (Y515N)

Ref Sequence

ENSEMBL: ENSMUSP00000118471 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023610] [ENSMUST00000125897]

Predicted Effect

probably damaging
Transcript: ENSMUST00000023610
AA Change: Y778N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000023610
Gene: ENSMUSG00000022893
AA Change: Y778N

Domain	Start	End	E-Value	Type
Pfam:Pep_M12B_propep	22	194	1.3e-27	PFAM
Pfam:Reprolysin_4	257	464	2.2e-9	PFAM
Pfam:Reprolysin_5	257	466	1.6e-14	PFAM
Pfam:Reprolysin	259	468	3.6e-22	PFAM
Pfam:Reprolysin_2	279	458	2.1e-10	PFAM
Pfam:Reprolysin_3	281	413	4.8e-14	PFAM
ACR	469	549	7.36e-8	SMART
TSP1	563	615	3.77e-14	SMART
Pfam:ADAM_spacer1	726	844	1.7e-35	PFAM
TSP1	858	911	1.22e-8	SMART
TSP1	912	968	1.2e-7	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000125897
AA Change: Y515N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000118471
Gene: ENSMUSG00000022893
AA Change: Y515N

Domain	Start	End	E-Value	Type
Pfam:Reprolysin_4	1	201	2.3e-9	PFAM
Pfam:Reprolysin_5	1	203	8.8e-14	PFAM
Pfam:Reprolysin	1	205	5e-22	PFAM
Pfam:Reprolysin_2	16	195	8.6e-10	PFAM
Pfam:Reprolysin_3	19	150	4.2e-14	PFAM
ACR	206	286	7.36e-8	SMART
TSP1	300	352	3.77e-14	SMART
Pfam:ADAM_spacer1	463	581	3e-35	PFAM
TSP1	595	648	1.22e-8	SMART
TSP1	649	680	4.85e-1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138474

Meta Mutation Damage Score

0.8291

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.6%

Validation Efficiency

100% (74/74)

MGI Phenotype

FUNCTION: This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) family and preproprotein that is proteolytically processed to generate a mature protein product. This secreted protein product plays an important role in ovulation, likely through its cleavage of the extracellular matrix component versican. The encoded protein may enhance tumorigenesis in a mouse model of breast cancer. Homozygous knockout mice for this gene exhibit enhanced perinatal lethality, impaired growth and adipose tissue development, and impaired ovulation in females. [provided by RefSeq, Oct 2015]
PHENOTYPE: Mice homozygous for targeted mutations that inactivate the gene display growth retardation with adipose tissue malformation, impaired female fertility, enlarged renal calices and abnormal adrenal medullary architecture. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acta2	C	T	19: 34,243,399	G303E	probably damaging	Het
Ankef1	T	C	2: 136,554,738	V695A	probably benign	Het
Ankrd63	C	A	2: 118,703,353		probably benign	Het
Asah2	A	T	19: 32,052,956	N105K	probably benign	Het
Atf2	A	C	2: 73,863,208	D3E	probably damaging	Het
Atp5f1	T	C	3: 105,943,874		probably benign	Het
Bag4	C	T	8: 25,769,488	A228T	probably benign	Het
Bms1	A	C	6: 118,392,627	L960W	probably damaging	Het
Cacna1c	A	G	6: 118,656,137	V977A	probably damaging	Het
Cadps2	A	G	6: 23,839,122	S6P	possibly damaging	Het
Capn8	A	G	1: 182,613,386	T462A	probably benign	Het
Cd226	T	C	18: 89,207,362	S128P	probably benign	Het
Cd33	G	T	7: 43,529,892	H278N	probably benign	Het
Cdh1	T	C	8: 106,666,182		probably benign	Het
Cfap54	T	C	10: 93,038,809		probably null	Het
Chit1	A	G	1: 134,151,144	I397M	probably benign	Het
Cic	C	A	7: 25,271,536	Q231K	possibly damaging	Het
Clca4b	A	G	3: 144,925,163	V312A	probably damaging	Het
Cngb1	T	A	8: 95,297,085		probably null	Het
Cyfip2	T	C	11: 46,249,789	I430V	probably benign	Het
Dnah12	A	G	14: 26,781,528	E1613G	probably null	Het
Dock2	T	C	11: 34,294,106		probably null	Het
Dync2h1	A	T	9: 7,160,171	F646I	probably damaging	Het
Eef1b2	A	T	1: 63,179,487	K144*	probably null	Het
Erap1	T	C	13: 74,669,450	V137A	probably benign	Het
Fam196a	T	G	7: 134,918,430	K124Q	probably damaging	Het
Far1	A	T	7: 113,539,271		probably null	Het
Fbn2	A	T	18: 58,090,658	C807S	probably damaging	Het
Fgfr1	A	G	8: 25,558,215	K209R	probably benign	Het
Fpr-rs4	CAGGAA	CA	17: 18,022,334		probably null	Het
Frem2	A	T	3: 53,535,744	V2533D	probably damaging	Het
Hip1r	T	C	5: 124,000,731	M839T	probably benign	Het
Igfbp2	A	G	1: 72,852,151	S303G	probably benign	Het
Itga10	C	T	3: 96,651,738		probably benign	Het
Itgb3	T	G	11: 104,623,413	S27A	probably benign	Het
Kif21b	G	A	1: 136,160,313	D1015N	probably damaging	Het
Krt7	A	T	15: 101,423,484		probably null	Het
Krtdap	T	A	7: 30,790,585	F80L	probably benign	Het
Lcp1	A	T	14: 75,200,401	T84S	probably benign	Het
Lipi	G	A	16: 75,550,199	T444I	probably damaging	Het
Lrguk	A	T	6: 34,071,068	E316V	probably damaging	Het
Lypd1	G	A	1: 125,910,535		probably benign	Het
Med12l	A	T	3: 59,262,310	K1632*	probably null	Het
Mrgpra9	A	T	7: 47,235,835	M28K	probably benign	Het
Mylk	A	G	16: 34,953,653	K1291E	probably benign	Het
Nek4	T	A	14: 30,953,923	W72R	probably damaging	Het
Nudt8	T	C	19: 4,001,899	V170A	probably damaging	Het
Oosp3	T	A	19: 11,699,369	Y31N	probably benign	Het
Padi2	A	T	4: 140,937,930	R449W	probably damaging	Het
Pcf11	G	T	7: 92,661,879	N300K	probably damaging	Het
Pcsk5	T	C	19: 17,581,144	D633G	possibly damaging	Het
Phlpp2	T	A	8: 109,907,600	W271R	probably damaging	Het
Pikfyve	T	C	1: 65,253,353	V1276A	probably benign	Het
Pkhd1l1	A	T	15: 44,479,654	N176Y	probably damaging	Het
Pop5	T	G	5: 115,238,212	V33G	possibly damaging	Het
Prkag2	A	G	5: 24,947,582	F175L	possibly damaging	Het
Ptpn22	T	A	3: 103,874,021	D79E	possibly damaging	Het
Rab32	T	G	10: 10,550,833	D123A	probably damaging	Het
Rnpc3	T	C	3: 113,608,360	K513E	possibly damaging	Het
Senp1	A	T	15: 98,059,944	F358I	possibly damaging	Het
Sft2d2	A	G	1: 165,185,078	L83P	probably damaging	Het
Slc9c1	G	A	16: 45,580,250	R741H	probably damaging	Het
Smad4	A	T	18: 73,649,806	Y352*	probably null	Het
Tamm41	T	A	6: 115,016,095	Q232H	probably benign	Het
Tbx6	T	A	7: 126,782,883	L131Q	probably damaging	Het
Trappc10	T	C	10: 78,209,479		probably benign	Het
Trp53bp1	C	A	2: 121,204,483	A108S	probably benign	Het
Unc13b	G	A	4: 43,091,266	V31M	probably damaging	Het
Usp24	T	C	4: 106,400,980	M1525T	possibly damaging	Het
Vax2	G	A	6: 83,711,270		probably benign	Het
Vcan	T	A	13: 89,690,985	I2147L	probably benign	Het
Zbtb7a	C	A	10: 81,144,410	A146E	probably benign	Het
Zcchc6	T	C	13: 59,800,656	Y215C	probably damaging	Het
Zfp287	A	G	11: 62,727,569	L157P	probably damaging	Het

Other mutations in Adamts1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00543:Adamts1	APN	16	85795573	missense	probably benign
IGL01753:Adamts1	APN	16	85802224	missense	probably benign	0.00
IGL02238:Adamts1	APN	16	85795825	missense	probably benign	0.01
IGL02655:Adamts1	APN	16	85802617	missense	probably benign
PIT4466001:Adamts1	UTSW	16	85796691	nonsense	probably null
R0114:Adamts1	UTSW	16	85799614	missense	probably benign	0.10
R0135:Adamts1	UTSW	16	85798703	splice site	probably benign
R0179:Adamts1	UTSW	16	85795465	missense	probably benign	0.00
R0517:Adamts1	UTSW	16	85800353	missense	possibly damaging	0.96
R0526:Adamts1	UTSW	16	85802372	missense	probably benign
R0727:Adamts1	UTSW	16	85798648	missense	possibly damaging	0.51
R0899:Adamts1	UTSW	16	85798052	nonsense	probably null
R1163:Adamts1	UTSW	16	85802637	missense	probably benign	0.07
R1555:Adamts1	UTSW	16	85797888	missense	probably benign	0.17
R1598:Adamts1	UTSW	16	85798511	nonsense	probably null
R1643:Adamts1	UTSW	16	85796817	splice site	probably benign
R1847:Adamts1	UTSW	16	85802226	missense	possibly damaging	0.89
R2093:Adamts1	UTSW	16	85802445	missense	probably benign	0.23
R2966:Adamts1	UTSW	16	85796774	missense	possibly damaging	0.94
R3937:Adamts1	UTSW	16	85795619	missense	possibly damaging	0.90
R3938:Adamts1	UTSW	16	85795619	missense	possibly damaging	0.90
R4348:Adamts1	UTSW	16	85802346	missense	probably benign	0.02
R4350:Adamts1	UTSW	16	85802346	missense	probably benign	0.02
R4351:Adamts1	UTSW	16	85802346	missense	probably benign	0.02
R4352:Adamts1	UTSW	16	85802346	missense	probably benign	0.02
R4470:Adamts1	UTSW	16	85798516	missense	possibly damaging	0.88
R4724:Adamts1	UTSW	16	85802505	missense	probably benign	0.00
R4775:Adamts1	UTSW	16	85800390	nonsense	probably null
R4972:Adamts1	UTSW	16	85795945	missense	probably damaging	1.00
R5353:Adamts1	UTSW	16	85802608	missense	probably benign	0.00
R5420:Adamts1	UTSW	16	85799609	nonsense	probably null
R5551:Adamts1	UTSW	16	85797746	missense	probably benign
R5574:Adamts1	UTSW	16	85799642	missense	probably damaging	1.00
R5759:Adamts1	UTSW	16	85798048	missense	possibly damaging	0.93
R5860:Adamts1	UTSW	16	85798544	missense	probably damaging	1.00
R5910:Adamts1	UTSW	16	85802149	missense	probably benign	0.00
R6240:Adamts1	UTSW	16	85802157	missense	probably benign
R6473:Adamts1	UTSW	16	85799643	missense	probably damaging	1.00
R6623:Adamts1	UTSW	16	85795637	missense	probably benign	0.20
R6628:Adamts1	UTSW	16	85795825	missense	probably benign	0.05
R7034:Adamts1	UTSW	16	85802746	unclassified	probably benign
R7174:Adamts1	UTSW	16	85799172	missense	probably benign	0.00
R7572:Adamts1	UTSW	16	85797741	missense	possibly damaging	0.51

Predicted Primers

PCR Primer
(F):5'- GCGTTGAATGACTCTGTCTTC -3'
(R):5'- ACACATGCTTTGGAGACCC -3'

Sequencing Primer
(F):5'- CTGTCTTCTTCTTCATAAAGTAGGTG -3'
(R):5'- GGAGACCCTGTAATTTTGATATACG -3'

Posted On

2014-08-25