Mutagenetix > Incidental Mutation

Incidental Mutation 'R7034:Adamts1'

546571

Institutional Source

Beutler Lab

Gene Symbol

Adamts1

Ensembl Gene

ENSMUSG00000022893

Gene Name

ADAM metallopeptidase with thrombospondin type 1 motif 1

Synonyms

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

MMRRC Submission

045135-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7034 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

85590715-85600001 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to A at 85599634 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000118471 (fasta)

Gene Model

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

AlphaFold

P97857

Predicted Effect

probably benign
Transcript: ENSMUST00000023610

SMART Domains

Protein: ENSMUSP00000023610
Gene: ENSMUSG00000022893

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 benign
Transcript: ENSMUST00000125897

SMART Domains

Protein: ENSMUSP00000118471
Gene: ENSMUSG00000022893

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	T	A	10: 100,445,118 (GRCm39)		probably null	Het
Aff4	A	G	11: 53,299,236 (GRCm39)	K979E	probably damaging	Het
Aftph	A	T	11: 20,642,498 (GRCm39)	M845K	probably damaging	Het
Akt2	T	C	7: 27,336,437 (GRCm39)		probably null	Het
Aldh1a7	A	T	19: 20,685,542 (GRCm39)	L336Q	possibly damaging	Het
Ank3	C	T	10: 69,835,209 (GRCm39)	T680M	probably damaging	Het
Apeh	T	C	9: 107,971,470 (GRCm39)	E59G	possibly damaging	Het
Armc8	C	T	9: 99,366,018 (GRCm39)		probably null	Het
Armh3	A	G	19: 45,953,688 (GRCm39)	I195T	probably damaging	Het
Atp2b1	C	T	10: 98,823,172 (GRCm39)	T244I	probably damaging	Het
Btaf1	C	A	19: 36,981,869 (GRCm39)	T1633K	probably benign	Het
Cacng8	A	G	7: 3,463,819 (GRCm39)	S324G	probably benign	Het
Calcr	T	A	6: 3,692,543 (GRCm39)	Q400L	probably damaging	Het
Caprin2	G	A	6: 148,749,703 (GRCm39)	P536S	possibly damaging	Het
Ccdc54	A	T	16: 50,410,951 (GRCm39)	M105K	probably benign	Het
Ccna1	T	C	3: 54,953,460 (GRCm39)	E381G	possibly damaging	Het
Cd2ap	A	T	17: 43,109,490 (GRCm39)	L623Q	probably damaging	Het
Cdkl3	A	G	11: 51,918,042 (GRCm39)	E415G	probably benign	Het
Chd5	C	A	4: 152,445,398 (GRCm39)	L430I	possibly damaging	Het
Clspn	G	A	4: 126,474,775 (GRCm39)	E975K	possibly damaging	Het
Cobl	C	A	11: 12,204,177 (GRCm39)	V835F	probably damaging	Het
D430041D05Rik	C	A	2: 104,022,883 (GRCm39)	R1037L	probably damaging	Het
Derl1	A	G	15: 57,742,443 (GRCm39)		probably null	Het
Dhrs9	T	G	2: 69,223,520 (GRCm39)	N89K	probably benign	Het
Erich1	A	G	8: 14,114,330 (GRCm39)	I60T	probably benign	Het
Fam184a	A	T	10: 53,570,910 (GRCm39)	S408T	possibly damaging	Het
Fcgr4	T	A	1: 170,847,657 (GRCm39)	M85K	probably benign	Het
Foxj3	A	G	4: 119,476,497 (GRCm39)	E259G	probably damaging	Het
Galnt11	T	C	5: 25,463,811 (GRCm39)	I361T	probably damaging	Het
Gck	A	G	11: 5,851,747 (GRCm39)	S441P	probably damaging	Het
Gdap1l1	G	T	2: 163,288,065 (GRCm39)	V98F	probably damaging	Het
Gramd1a	A	G	7: 30,832,181 (GRCm39)		probably null	Het
H2ac21	C	T	3: 96,127,304 (GRCm39)	Q25*	probably null	Het
Herc3	A	T	6: 58,853,840 (GRCm39)	M629L	probably benign	Het
Hoxc12	G	A	15: 102,846,795 (GRCm39)	G229D	probably damaging	Het
Hycc2	T	A	1: 58,574,696 (GRCm39)	M282L	probably benign	Het
Itga9	T	C	9: 118,527,433 (GRCm39)	L528P	probably benign	Het
Krt39	A	C	11: 99,412,062 (GRCm39)	V8G	probably benign	Het
Krt71	A	G	15: 101,646,772 (GRCm39)	I312T	probably benign	Het
Lrrc37	T	A	11: 103,506,638 (GRCm39)		probably benign	Het
Mllt11	A	G	3: 95,127,744 (GRCm39)	Y9H	probably damaging	Het
Mrgpra3	G	T	7: 47,239,838 (GRCm39)	N29K	possibly damaging	Het
Mug1	A	G	6: 121,850,603 (GRCm39)	T700A	probably benign	Het
Myl1	T	C	1: 66,969,395 (GRCm39)	N79S	probably damaging	Het
Myo18b	G	A	5: 112,871,770 (GRCm39)	Q2104*	probably null	Het
Nalf1	G	A	8: 9,820,589 (GRCm39)	P144S	possibly damaging	Het
Ndufs2	T	C	1: 171,065,877 (GRCm39)	D256G	probably benign	Het
Nek5	T	C	8: 22,597,739 (GRCm39)	N280S	probably benign	Het
Nwd2	A	T	5: 63,962,258 (GRCm39)	N614I	probably damaging	Het
Or6c88	G	A	10: 129,406,941 (GRCm39)	C139Y	possibly damaging	Het
Parp1	G	T	1: 180,425,817 (GRCm39)	K849N	possibly damaging	Het
Pcnx2	T	C	8: 126,512,041 (GRCm39)	T1422A	probably damaging	Het
Plce1	A	G	19: 38,727,801 (GRCm39)	N1520S	probably damaging	Het
Ppcdc	T	C	9: 57,322,453 (GRCm39)	T149A	probably damaging	Het
Ppl	A	G	16: 4,905,366 (GRCm39)	V1643A	probably benign	Het
Pramel23	A	T	4: 143,423,898 (GRCm39)	I297N	probably damaging	Het
Prrx1	T	A	1: 163,075,907 (GRCm39)	M220L	probably benign	Het
Pspc1	A	C	14: 56,996,085 (GRCm39)		probably null	Het
Ptpn20	A	G	14: 33,336,392 (GRCm39)	*44W	probably null	Het
Qars1	T	A	9: 108,391,976 (GRCm39)	V83E	probably damaging	Het
Rbm33	T	C	5: 28,599,496 (GRCm39)	M956T	unknown	Het
Sash1	C	A	10: 8,605,847 (GRCm39)	E848*	probably null	Het
Scai	T	A	2: 39,011,147 (GRCm39)	Y163F	probably damaging	Het
Serpinf2	A	T	11: 75,329,244 (GRCm39)		probably benign	Het
Sgo2b	T	A	8: 64,379,868 (GRCm39)	H988L	probably benign	Het
Sh2b2	G	A	5: 136,247,739 (GRCm39)	T604I	probably benign	Het
Skint4	A	T	4: 112,015,281 (GRCm39)	I449F	possibly damaging	Het
Slc30a2	A	G	4: 134,074,653 (GRCm39)	I88V	possibly damaging	Het
Smug1	A	G	15: 103,064,369 (GRCm39)	L184P	probably damaging	Het
Spatc1	A	G	15: 76,168,080 (GRCm39)	T180A	probably benign	Het
Ssr1	A	T	13: 38,178,001 (GRCm39)	L20Q	probably null	Het
Supt4a	A	G	11: 87,634,084 (GRCm39)	E100G	probably damaging	Het
Teddm2	T	C	1: 153,726,320 (GRCm39)	I132V	probably benign	Het
Tmem131	C	T	1: 36,832,054 (GRCm39)	G1861E	possibly damaging	Het
Tpr	A	T	1: 150,299,358 (GRCm39)	H1186L	probably benign	Het
Trim34b	A	T	7: 103,978,743 (GRCm39)		probably benign	Het
Trpm2	T	C	10: 77,748,426 (GRCm39)	M1415V	probably benign	Het
Ttll12	A	G	15: 83,471,086 (GRCm39)	F264S	probably benign	Het
Vmn2r59	T	C	7: 41,695,644 (GRCm39)	E256G	probably benign	Het
Vmn2r93	A	T	17: 18,546,672 (GRCm39)	H848L	probably benign	Het
Vps35l	T	C	7: 118,372,315 (GRCm39)	S290P	probably damaging	Het
Wdfy3	G	A	5: 102,055,384 (GRCm39)	T1562I	probably damaging	Het
Ybey	T	C	10: 76,304,197 (GRCm39)	S2G	possibly damaging	Het
Zfp346	A	T	13: 55,280,200 (GRCm39)	Q308L	probably benign	Het

Other mutations in Adamts1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00543:Adamts1	APN	16	85,592,461 (GRCm39)	missense	probably benign
IGL01753:Adamts1	APN	16	85,599,112 (GRCm39)	missense	probably benign	0.00
IGL02238:Adamts1	APN	16	85,592,713 (GRCm39)	missense	probably benign	0.01
IGL02655:Adamts1	APN	16	85,599,505 (GRCm39)	missense	probably benign
gambler	UTSW	16	85,596,497 (GRCm39)	nonsense	probably null
sure_thing	UTSW	16	85,595,432 (GRCm39)	missense	probably damaging	1.00
PIT4466001:Adamts1	UTSW	16	85,593,579 (GRCm39)	nonsense	probably null
R0114:Adamts1	UTSW	16	85,596,502 (GRCm39)	missense	probably benign	0.10
R0135:Adamts1	UTSW	16	85,595,591 (GRCm39)	splice site	probably benign
R0179:Adamts1	UTSW	16	85,592,353 (GRCm39)	missense	probably benign	0.00
R0517:Adamts1	UTSW	16	85,597,241 (GRCm39)	missense	possibly damaging	0.96
R0526:Adamts1	UTSW	16	85,599,260 (GRCm39)	missense	probably benign
R0727:Adamts1	UTSW	16	85,595,536 (GRCm39)	missense	possibly damaging	0.51
R0899:Adamts1	UTSW	16	85,594,940 (GRCm39)	nonsense	probably null
R1163:Adamts1	UTSW	16	85,599,525 (GRCm39)	missense	probably benign	0.07
R1555:Adamts1	UTSW	16	85,594,776 (GRCm39)	missense	probably benign	0.17
R1598:Adamts1	UTSW	16	85,595,399 (GRCm39)	nonsense	probably null
R1643:Adamts1	UTSW	16	85,593,705 (GRCm39)	splice site	probably benign
R1847:Adamts1	UTSW	16	85,599,114 (GRCm39)	missense	possibly damaging	0.89
R2045:Adamts1	UTSW	16	85,592,864 (GRCm39)	missense	probably damaging	1.00
R2093:Adamts1	UTSW	16	85,599,333 (GRCm39)	missense	probably benign	0.23
R2966:Adamts1	UTSW	16	85,593,662 (GRCm39)	missense	possibly damaging	0.94
R3937:Adamts1	UTSW	16	85,592,507 (GRCm39)	missense	possibly damaging	0.90
R3938:Adamts1	UTSW	16	85,592,507 (GRCm39)	missense	possibly damaging	0.90
R4348:Adamts1	UTSW	16	85,599,234 (GRCm39)	missense	probably benign	0.02
R4350:Adamts1	UTSW	16	85,599,234 (GRCm39)	missense	probably benign	0.02
R4351:Adamts1	UTSW	16	85,599,234 (GRCm39)	missense	probably benign	0.02
R4352:Adamts1	UTSW	16	85,599,234 (GRCm39)	missense	probably benign	0.02
R4470:Adamts1	UTSW	16	85,595,404 (GRCm39)	missense	possibly damaging	0.88
R4724:Adamts1	UTSW	16	85,599,393 (GRCm39)	missense	probably benign	0.00
R4775:Adamts1	UTSW	16	85,597,278 (GRCm39)	nonsense	probably null
R4972:Adamts1	UTSW	16	85,592,833 (GRCm39)	missense	probably damaging	1.00
R5353:Adamts1	UTSW	16	85,599,496 (GRCm39)	missense	probably benign	0.00
R5420:Adamts1	UTSW	16	85,596,497 (GRCm39)	nonsense	probably null
R5551:Adamts1	UTSW	16	85,594,634 (GRCm39)	missense	probably benign
R5574:Adamts1	UTSW	16	85,596,530 (GRCm39)	missense	probably damaging	1.00
R5759:Adamts1	UTSW	16	85,594,936 (GRCm39)	missense	possibly damaging	0.93
R5860:Adamts1	UTSW	16	85,595,432 (GRCm39)	missense	probably damaging	1.00
R5910:Adamts1	UTSW	16	85,599,037 (GRCm39)	missense	probably benign	0.00
R6240:Adamts1	UTSW	16	85,599,045 (GRCm39)	missense	probably benign
R6473:Adamts1	UTSW	16	85,596,531 (GRCm39)	missense	probably damaging	1.00
R6623:Adamts1	UTSW	16	85,592,525 (GRCm39)	missense	probably benign	0.20
R6628:Adamts1	UTSW	16	85,592,713 (GRCm39)	missense	probably benign	0.05
R7174:Adamts1	UTSW	16	85,596,060 (GRCm39)	missense	probably benign	0.00
R7572:Adamts1	UTSW	16	85,594,629 (GRCm39)	missense	possibly damaging	0.51
R7759:Adamts1	UTSW	16	85,594,683 (GRCm39)	missense	probably damaging	1.00
R7808:Adamts1	UTSW	16	85,597,117 (GRCm39)	missense	probably damaging	0.99
R7880:Adamts1	UTSW	16	85,594,940 (GRCm39)	nonsense	probably null
R7985:Adamts1	UTSW	16	85,595,002 (GRCm39)	missense	probably damaging	1.00
R7986:Adamts1	UTSW	16	85,596,435 (GRCm39)	missense	probably damaging	1.00
R8118:Adamts1	UTSW	16	85,592,821 (GRCm39)	missense	probably damaging	1.00
R8466:Adamts1	UTSW	16	85,599,400 (GRCm39)	missense	probably benign	0.42
R8468:Adamts1	UTSW	16	85,592,444 (GRCm39)	missense	possibly damaging	0.52
R8712:Adamts1	UTSW	16	85,594,896 (GRCm39)	missense	probably benign	0.28
R8721:Adamts1	UTSW	16	85,594,775 (GRCm39)	missense	probably damaging	0.96
R8804:Adamts1	UTSW	16	85,599,300 (GRCm39)	missense	probably damaging	1.00
R9188:Adamts1	UTSW	16	85,599,571 (GRCm39)	missense	probably damaging	0.96
R9297:Adamts1	UTSW	16	85,599,534 (GRCm39)	missense	probably benign	0.01
R9346:Adamts1	UTSW	16	85,599,420 (GRCm39)	missense	possibly damaging	0.89
R9552:Adamts1	UTSW	16	85,599,505 (GRCm39)	missense	probably benign
R9681:Adamts1	UTSW	16	85,599,498 (GRCm39)	missense
R9786:Adamts1	UTSW	16	85,592,302 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CAGCATTGTTATGGAAGCGAGG -3'
(R):5'- ATTCTGGACTTGTTCCCCAG -3'

Sequencing Primer
(F):5'- GAGCAGCAACAGCATGTGTG -3'
(R):5'- TTCTAGGTCCTGCAGCAGC -3'

Posted On

2019-05-13