Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00543:Adamts1'

3950

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Adamts1

Ensembl Gene

ENSMUSG00000022893

Gene Name

ADAM metallopeptidase with thrombospondin type 1 motif 1

Synonyms

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00543

Quality Score

Status

Chromosome

Chromosomal Location

85590715-85600001 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 85592461 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 649 (H649R)

Ref Sequence

ENSEMBL: ENSMUSP00000118471 (fasta)

Gene Model

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

AlphaFold

P97857

Predicted Effect

probably benign
Transcript: ENSMUST00000023610
AA Change: H912R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000023610
Gene: ENSMUSG00000022893
AA Change: H912R

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
AA Change: H649R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000118471
Gene: ENSMUSG00000022893
AA Change: H649R

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

Coding Region Coverage

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr1c	A	G	2: 58,205,835 (GRCm39)	C42R	probably damaging	Het
Capn3	T	C	2: 120,316,963 (GRCm39)		probably benign	Het
Cd44	T	C	2: 102,686,292 (GRCm39)	T135A	possibly damaging	Het
Cntnap5c	T	A	17: 58,601,345 (GRCm39)	I831N	probably benign	Het
Eprs1	G	T	1: 185,139,345 (GRCm39)	C910F	probably benign	Het
Epx	T	C	11: 87,760,751 (GRCm39)	R394G	probably damaging	Het
Hps5	T	C	7: 46,427,497 (GRCm39)	D338G	probably benign	Het
Ikbkg	T	C	X: 73,476,466 (GRCm39)	V14A	probably damaging	Het
Lrp1b	A	G	2: 41,358,960 (GRCm39)	F638L	possibly damaging	Het
Lyz3	G	T	10: 117,074,352 (GRCm39)	T45K	probably benign	Het
Mak	A	T	13: 41,209,189 (GRCm39)	Y87N	probably damaging	Het
Morc2a	T	A	11: 3,630,283 (GRCm39)	I493N	probably damaging	Het
Msl2	T	A	9: 100,978,269 (GRCm39)	H214Q	probably benign	Het
Myom3	A	C	4: 135,489,882 (GRCm39)	T18P	possibly damaging	Het
Ndst3	G	T	3: 123,465,912 (GRCm39)	T20N	probably damaging	Het
Nelfe	T	A	17: 35,072,592 (GRCm39)	S124T	possibly damaging	Het
Niban2	T	A	2: 32,802,483 (GRCm39)	F158Y	probably benign	Het
Nlgn1	T	G	3: 25,487,945 (GRCm39)	T797P	probably damaging	Het
Pcdh18	T	C	3: 49,707,828 (GRCm39)	D414G	probably damaging	Het
Pde4dip	T	C	3: 97,664,940 (GRCm39)	S386G	possibly damaging	Het
Ppig	T	A	2: 69,580,060 (GRCm39)	H531Q	unknown	Het
Ppm1n	T	C	7: 19,012,109 (GRCm39)	Y348C	probably benign	Het
Rdh9	T	C	10: 127,626,853 (GRCm39)	V302A	probably benign	Het
Serpinb3b	A	G	1: 107,085,396 (GRCm39)		probably null	Het
Slc39a10	A	G	1: 46,858,217 (GRCm39)		probably benign	Het

Other mutations in Adamts1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R7034:Adamts1	UTSW	16	85,599,634 (GRCm39)	unclassified	probably benign
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

Posted On

2012-04-20