Mutagenetix > Incidental Mutation

Incidental Mutation 'R2409:Adamts7'

248132

Institutional Source

Beutler Lab

Gene Symbol

Adamts7

Ensembl Gene

ENSMUSG00000032363

Gene Name

ADAM metallopeptidase with thrombospondin type 1 motif 7

Synonyms

ADAM-TS7

MMRRC Submission

040375-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

R2409 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

90041420-90082155 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 90062740 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 398 (I398N)

Ref Sequence

ENSEMBL: ENSMUSP00000129292 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000113059] [ENSMUST00000113060] [ENSMUST00000134996] [ENSMUST00000147250] [ENSMUST00000167122]

AlphaFold

Q68SA9

Predicted Effect

probably damaging
Transcript: ENSMUST00000113059
AA Change: I398N

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

SMART Domains

Protein: ENSMUSP00000108682
Gene: ENSMUSG00000032363
AA Change: I398N

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:Pep_M12B_propep	34	174	1.1e-36	PFAM
low complexity region	203	220	N/A	INTRINSIC
Pfam:Reprolysin_5	224	411	1.3e-16	PFAM
Pfam:Reprolysin_4	224	425	8.5e-9	PFAM
Pfam:Reprolysin	226	437	2.2e-27	PFAM
Pfam:Reprolysin_2	244	427	2.9e-12	PFAM
Pfam:Reprolysin_3	248	383	5.2e-13	PFAM
Blast:ACR	442	513	5e-15	BLAST
TSP1	526	578	4.9e-13	SMART
Pfam:ADAM_spacer1	683	794	2.2e-36	PFAM
TSP1	807	863	1.45e-6	SMART
TSP1	866	908	2.41e-1	SMART
TSP1	929	978	1.45e-6	SMART
low complexity region	1011	1025	N/A	INTRINSIC
low complexity region	1211	1233	N/A	INTRINSIC
TSP1	1385	1435	2.4e-2	SMART
TSP1	1436	1493	1.8e-2	SMART
TSP1	1495	1542	4.82e-2	SMART
TSP1	1543	1600	1.39e-3	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000113060
AA Change: I398N

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

SMART Domains

Protein: ENSMUSP00000108683
Gene: ENSMUSG00000032363
AA Change: I398N

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:Pep_M12B_propep	33	174	3.4e-28	PFAM
low complexity region	203	220	N/A	INTRINSIC
Pfam:Reprolysin_5	224	411	1.6e-16	PFAM
Pfam:Reprolysin_4	224	425	8.2e-9	PFAM
Pfam:Reprolysin	226	437	6.4e-30	PFAM
Pfam:Reprolysin_2	244	427	4.6e-12	PFAM
Pfam:Reprolysin_3	248	383	8.1e-13	PFAM
Blast:ACR	442	513	5e-15	BLAST
TSP1	526	578	4.9e-13	SMART
Pfam:ADAM_spacer1	683	794	1.5e-36	PFAM
TSP1	807	863	1.45e-6	SMART
TSP1	866	908	2.41e-1	SMART
low complexity region	969	983	N/A	INTRINSIC
low complexity region	1169	1191	N/A	INTRINSIC
TSP1	1343	1393	2.4e-2	SMART
TSP1	1394	1451	1.8e-2	SMART
TSP1	1453	1500	4.82e-2	SMART
TSP1	1501	1558	1.39e-3	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000134996
AA Change: I398N

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

SMART Domains

Protein: ENSMUSP00000119744
Gene: ENSMUSG00000032363
AA Change: I398N

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:Pep_M12B_propep	33	174	2.4e-29	PFAM
low complexity region	203	220	N/A	INTRINSIC
Pfam:Reprolysin_5	224	412	1e-17	PFAM
Pfam:Reprolysin_4	224	426	5e-10	PFAM
Pfam:Reprolysin	226	437	3.7e-31	PFAM
Pfam:Reprolysin_2	244	427	3.2e-13	PFAM
Pfam:Reprolysin_3	248	383	6.3e-14	PFAM
Blast:ACR	439	505	7e-12	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000147250
AA Change: I398N

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

SMART Domains

Protein: ENSMUSP00000115972
Gene: ENSMUSG00000032363
AA Change: I398N

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:Pep_M12B_propep	33	174	2.7e-26	PFAM
low complexity region	203	220	N/A	INTRINSIC
Pfam:Reprolysin_5	224	411	1.4e-14	PFAM
Pfam:Reprolysin_4	224	425	7e-7	PFAM
Pfam:Reprolysin	226	437	4.9e-28	PFAM
Pfam:Reprolysin_2	244	427	5e-10	PFAM
Pfam:Reprolysin_3	248	383	6.5e-11	PFAM
ACR	439	515	1.7e-5	SMART
TSP1	526	578	2.3e-15	SMART
Pfam:ADAM_spacer1	683	794	3.5e-34	PFAM
TSP1	807	863	6.9e-9	SMART
TSP1	866	908	1.2e-3	SMART
low complexity region	969	983	N/A	INTRINSIC
low complexity region	1169	1191	N/A	INTRINSIC
TSP1	1284	1334	1.2e-4	SMART
TSP1	1335	1392	8.7e-5	SMART
TSP1	1394	1441	2.3e-4	SMART
TSP1	1442	1499	6.5e-6	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000167122
AA Change: I398N

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

SMART Domains

Protein: ENSMUSP00000129292
Gene: ENSMUSG00000032363
AA Change: I398N

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:Pep_M12B_propep	33	174	1.4e-28	PFAM
low complexity region	203	220	N/A	INTRINSIC
Pfam:Reprolysin_5	224	411	7.2e-17	PFAM
Pfam:Reprolysin_4	224	425	3.6e-9	PFAM
Pfam:Reprolysin	226	437	2.9e-30	PFAM
Pfam:Reprolysin_2	244	427	2.2e-12	PFAM
Pfam:Reprolysin_3	248	383	3.7e-13	PFAM
Blast:ACR	442	513	5e-15	BLAST
TSP1	526	578	4.9e-13	SMART
Pfam:ADAM_spacer1	683	794	1.1e-36	PFAM
TSP1	807	863	1.45e-6	SMART
TSP1	866	908	2.41e-1	SMART
TSP1	929	978	1.45e-6	SMART
low complexity region	1011	1025	N/A	INTRINSIC
low complexity region	1211	1233	N/A	INTRINSIC
TSP1	1385	1435	2.4e-2	SMART
TSP1	1436	1493	1.8e-2	SMART
TSP1	1495	1542	4.82e-2	SMART
TSP1	1543	1600	1.39e-3	SMART

Meta Mutation Damage Score

0.7201

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.9%
20x: 94.0%

Validation Efficiency

100% (32/32)

MGI Phenotype

FUNCTION: This gene encodes a member of "a disintegrin and metalloproteinase with thrombospondin motifs" (ADAMTS) family of multi-domain matrix-associated metalloendopeptidases that have diverse roles in tissue morphogenesis and pathophysiological remodeling, in inflammation and in vascular biology. The encoded preproprotein undergoes proteolytic processing to generate an active, zinc-dependent enzyme that degrades cartilage oligomeric matrix protein. The deficiency of the encoded protein decreases atherosclerosis in genetically hyperlipidemic mice and in response to vascular injury. Alternative splicing results in multiple transcript variants encoding different isoforms, some of which may undergo similar processing. [provided by RefSeq, May 2016]
PHENOTYPE: Homozygotes for a null allele show increased lung function parameters, reduced endothelial cell migration and proliferation, increased re-endothelialization and ameliorated neointima formation after carotid artery injury, and increased oval cell activation and biliary fibrosis after liver injury. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	C	T	5: 8,788,747 (GRCm39)	T1042I	probably benign	Het
Adamts13	A	G	2: 26,868,374 (GRCm39)	T162A	probably benign	Het
Cib2	A	G	9: 54,452,751 (GRCm39)		probably null	Het
Cyp3a16	T	C	5: 145,377,177 (GRCm39)	K470R	probably benign	Het
Dpy19l2	A	G	9: 24,569,924 (GRCm39)	M343T	probably benign	Het
Dyrk2	A	G	10: 118,696,532 (GRCm39)	V242A	probably benign	Het
Extl3	T	C	14: 65,315,017 (GRCm39)	D55G	probably benign	Het
Fabp7	A	G	10: 57,661,772 (GRCm39)	K82E	possibly damaging	Het
Fat1	G	T	8: 45,493,567 (GRCm39)		probably benign	Het
Gen1	A	G	12: 11,299,165 (GRCm39)	I280T	possibly damaging	Het
Gm5117	T	C	8: 32,227,306 (GRCm39)		noncoding transcript	Het
Gucy1b2	CCGTGTTT	C	14: 62,643,628 (GRCm39)		probably null	Het
Il3ra	G	A	14: 14,349,377 (GRCm38)		probably null	Het
Myo1f	A	G	17: 33,795,641 (GRCm39)	N66D	probably damaging	Het
Nfkb1	C	T	3: 135,319,704 (GRCm39)	E264K	possibly damaging	Het
Nsf	C	T	11: 103,821,578 (GRCm39)	E26K	possibly damaging	Het
Or7d10	G	T	9: 19,832,072 (GRCm39)	R189L	probably benign	Het
Or7d10	G	C	9: 19,832,077 (GRCm39)	D191H	probably damaging	Het
Prdm10	A	G	9: 31,260,418 (GRCm39)	H624R	possibly damaging	Het
Rgs5	G	T	1: 169,504,451 (GRCm39)	V34F	possibly damaging	Het
Sec14l4	T	C	11: 3,990,048 (GRCm39)	S116P	probably benign	Het
Septin1	T	C	7: 126,815,143 (GRCm39)		probably null	Het
Septin9	T	A	11: 117,251,287 (GRCm39)	I535N	probably damaging	Het
Sh2b1	C	T	7: 126,070,651 (GRCm39)	G350D	probably damaging	Het
Slc6a21	T	C	7: 44,929,750 (GRCm39)	V107A	probably benign	Het
Trim26	C	A	17: 37,161,895 (GRCm39)	H105N	probably damaging	Het
Trim71	A	T	9: 114,342,781 (GRCm39)	D500E	possibly damaging	Het
Vmn2r78	T	A	7: 86,569,953 (GRCm39)		probably benign	Het
Vmn2r84	A	G	10: 130,227,940 (GRCm39)	S99P	probably damaging	Het

Other mutations in Adamts7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00547:Adamts7	APN	9	90,076,302 (GRCm39)	missense	possibly damaging	0.71
IGL00673:Adamts7	APN	9	90,075,714 (GRCm39)	missense	possibly damaging	0.78
IGL00902:Adamts7	APN	9	90,070,847 (GRCm39)	critical splice donor site	probably null
IGL01303:Adamts7	APN	9	90,053,787 (GRCm39)	missense	possibly damaging	0.46
IGL01333:Adamts7	APN	9	90,069,032 (GRCm39)	missense	probably damaging	1.00
IGL01431:Adamts7	APN	9	90,089,838 (GRCm39)	missense	possibly damaging	0.89
IGL01595:Adamts7	APN	9	90,075,359 (GRCm39)	missense	probably benign	0.02
IGL02728:Adamts7	APN	9	90,073,880 (GRCm39)	splice site	probably benign
IGL02860:Adamts7	APN	9	90,073,915 (GRCm39)	missense	probably benign
IGL03237:Adamts7	APN	9	90,070,717 (GRCm39)	missense	probably damaging	1.00
PIT4495001:Adamts7	UTSW	9	90,056,675 (GRCm39)	missense	probably damaging	1.00
R0044:Adamts7	UTSW	9	90,053,641 (GRCm39)	missense	possibly damaging	0.58
R0078:Adamts7	UTSW	9	90,061,464 (GRCm39)	missense	probably damaging	1.00
R0107:Adamts7	UTSW	9	90,062,773 (GRCm39)	missense	possibly damaging	0.82
R0122:Adamts7	UTSW	9	90,061,474 (GRCm39)	missense	probably damaging	1.00
R0166:Adamts7	UTSW	9	90,075,745 (GRCm39)	missense	probably benign	0.00
R0517:Adamts7	UTSW	9	90,081,911 (GRCm39)	missense	probably benign	0.01
R1442:Adamts7	UTSW	9	90,070,823 (GRCm39)	missense	probably damaging	0.99
R1468:Adamts7	UTSW	9	90,070,851 (GRCm39)	splice site	probably benign
R1554:Adamts7	UTSW	9	90,055,703 (GRCm39)	missense	probably damaging	1.00
R1612:Adamts7	UTSW	9	90,070,750 (GRCm39)	missense	possibly damaging	0.86
R1652:Adamts7	UTSW	9	90,071,697 (GRCm39)	missense	probably damaging	1.00
R2007:Adamts7	UTSW	9	90,059,909 (GRCm39)	missense	probably damaging	1.00
R2091:Adamts7	UTSW	9	90,070,493 (GRCm39)	critical splice donor site	probably null
R2202:Adamts7	UTSW	9	90,062,729 (GRCm39)	missense	probably damaging	1.00
R2204:Adamts7	UTSW	9	90,062,729 (GRCm39)	missense	probably damaging	1.00
R2205:Adamts7	UTSW	9	90,062,729 (GRCm39)	missense	probably damaging	1.00
R2305:Adamts7	UTSW	9	90,062,764 (GRCm39)	missense	probably benign	0.39
R4157:Adamts7	UTSW	9	90,070,414 (GRCm39)	missense	probably damaging	1.00
R4210:Adamts7	UTSW	9	90,076,063 (GRCm39)	missense	possibly damaging	0.95
R4368:Adamts7	UTSW	9	90,077,904 (GRCm39)	critical splice donor site	probably null
R4533:Adamts7	UTSW	9	90,062,761 (GRCm39)	missense	probably damaging	1.00
R4608:Adamts7	UTSW	9	90,056,593 (GRCm39)	missense	probably damaging	1.00
R4623:Adamts7	UTSW	9	90,068,515 (GRCm39)	missense	probably benign	0.17
R4661:Adamts7	UTSW	9	90,075,383 (GRCm39)	missense	probably benign	0.02
R4820:Adamts7	UTSW	9	90,071,739 (GRCm39)	missense	possibly damaging	0.62
R4942:Adamts7	UTSW	9	90,045,364 (GRCm39)	missense	probably benign
R4961:Adamts7	UTSW	9	90,067,793 (GRCm39)	missense	probably damaging	1.00
R5064:Adamts7	UTSW	9	90,077,883 (GRCm39)	missense	probably damaging	1.00
R5763:Adamts7	UTSW	9	90,070,462 (GRCm39)	missense	probably damaging	1.00
R5921:Adamts7	UTSW	9	90,070,747 (GRCm39)	missense	probably benign	0.20
R6027:Adamts7	UTSW	9	90,073,078 (GRCm39)	missense	probably damaging	1.00
R6182:Adamts7	UTSW	9	90,074,489 (GRCm39)	missense	probably benign	0.01
R6306:Adamts7	UTSW	9	90,060,331 (GRCm39)	critical splice donor site	probably null
R6404:Adamts7	UTSW	9	90,062,509 (GRCm39)	splice site	probably null
R6488:Adamts7	UTSW	9	90,053,535 (GRCm39)	missense	probably benign	0.00
R6649:Adamts7	UTSW	9	90,073,990 (GRCm39)	missense	probably damaging	1.00
R6658:Adamts7	UTSW	9	90,077,353 (GRCm39)	missense	probably damaging	0.99
R6874:Adamts7	UTSW	9	90,070,784 (GRCm39)	missense	probably damaging	1.00
R6947:Adamts7	UTSW	9	90,073,857 (GRCm39)	splice site	probably null
R7110:Adamts7	UTSW	9	90,076,017 (GRCm39)	missense	possibly damaging	0.92
R7224:Adamts7	UTSW	9	90,067,868 (GRCm39)	missense	probably damaging	1.00
R7239:Adamts7	UTSW	9	90,068,610 (GRCm39)	splice site	probably null
R7519:Adamts7	UTSW	9	90,079,132 (GRCm39)	missense	probably benign	0.22
R7608:Adamts7	UTSW	9	90,055,826 (GRCm39)	missense	possibly damaging	0.68
R7635:Adamts7	UTSW	9	90,077,298 (GRCm39)	missense	probably damaging	1.00
R7699:Adamts7	UTSW	9	90,070,792 (GRCm39)	missense	probably damaging	1.00
R8519:Adamts7	UTSW	9	90,075,610 (GRCm39)	nonsense	probably null
R8680:Adamts7	UTSW	9	90,077,321 (GRCm39)	missense	probably damaging	1.00
R8743:Adamts7	UTSW	9	90,077,296 (GRCm39)	missense	probably damaging	0.99
R8784:Adamts7	UTSW	9	90,075,918 (GRCm39)	missense	probably null	0.00
R8794:Adamts7	UTSW	9	90,076,239 (GRCm39)	nonsense	probably null
R8851:Adamts7	UTSW	9	90,075,163 (GRCm39)	missense	probably benign	0.00
R9025:Adamts7	UTSW	9	90,067,848 (GRCm39)	nonsense	probably null
R9038:Adamts7	UTSW	9	90,056,692 (GRCm39)	missense
R9101:Adamts7	UTSW	9	90,071,794 (GRCm39)	critical splice donor site	probably null
R9256:Adamts7	UTSW	9	90,060,218 (GRCm39)	missense	probably damaging	1.00
R9261:Adamts7	UTSW	9	90,075,397 (GRCm39)	missense	probably benign	0.01
R9385:Adamts7	UTSW	9	90,077,258 (GRCm39)	nonsense	probably null
R9614:Adamts7	UTSW	9	90,077,251 (GRCm39)	missense	probably damaging	1.00
X0028:Adamts7	UTSW	9	90,060,270 (GRCm39)	missense	probably benign	0.30

Predicted Primers

PCR Primer
(F):5'- TGATCCATGTAGATAAGAAACCCAGG -3'
(R):5'- ACCACATCTATCAGGTGCCG -3'

Sequencing Primer
(F):5'- TCAAGGTCATGCAGCCATTG -3'
(R):5'- TATCAGGTGCCGCCCCC -3'

Posted On

2014-11-11