Mutagenetix > Incidental Mutation

Incidental Mutation 'R8794:Adamts7'

671121

Institutional Source

Beutler Lab

Gene Symbol

Adamts7

Ensembl Gene

ENSMUSG00000032363

Gene Name

a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 7

Synonyms

ADAM-TS7

MMRRC Submission

068723-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

R8794 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

90163069-90208071 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 90194186 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 1265 (Q1265*)

Ref Sequence

ENSEMBL: ENSMUSP00000115972 (fasta)

Gene Model

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

AlphaFold

Q68SA9

Predicted Effect

probably null
Transcript: ENSMUST00000113059
AA Change: Q1366*

SMART Domains

Protein: ENSMUSP00000108682
Gene: ENSMUSG00000032363
AA Change: Q1366*

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 null
Transcript: ENSMUST00000113060
AA Change: Q1324*

SMART Domains

Protein: ENSMUSP00000108683
Gene: ENSMUSG00000032363
AA Change: Q1324*

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 benign
Transcript: ENSMUST00000134996

SMART Domains

Protein: ENSMUSP00000119744
Gene: ENSMUSG00000032363

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 null
Transcript: ENSMUST00000147250
AA Change: Q1265*

SMART Domains

Protein: ENSMUSP00000115972
Gene: ENSMUSG00000032363
AA Change: Q1265*

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 null
Transcript: ENSMUST00000167122
AA Change: Q1366*

SMART Domains

Protein: ENSMUSP00000129292
Gene: ENSMUSG00000032363
AA Change: Q1366*

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.6%

Validation Efficiency

100% (86/86)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	T	A	17: 9,008,107	V498D	unknown	Het
Actn1	C	T	12: 80,198,980		probably benign	Het
Actrt2	T	C	4: 154,666,719	E320G	probably damaging	Het
Adra1a	A	G	14: 66,637,615	N13S	probably benign	Het
Alpk3	G	T	7: 81,057,655	R9L	unknown	Het
Ankrd42	A	G	7: 92,614,466	F225L	probably benign	Het
C3	T	C	17: 57,221,011	E736G	probably benign	Het
Ccng1	A	G	11: 40,753,999	S24P	probably benign	Het
Cdc42bpa	A	T	1: 180,067,251	N332I	probably damaging	Het
Cep131	G	A	11: 120,081,248	P90S	probably benign	Het
Chd8	A	G	14: 52,204,447	S2154P	probably damaging	Het
Cilp	A	G	9: 65,279,253	S877G	probably benign	Het
Clic6	T	A	16: 92,528,099	S382T	possibly damaging	Het
Coq8a	G	T	1: 180,179,208	P85Q	probably benign	Het
Creb3l4	A	G	3: 90,237,918	I309T	probably benign	Het
Cux2	T	C	5: 121,869,243	E785G	probably benign	Het
Cyfip2	A	G	11: 46,253,973	F685L	possibly damaging	Het
Epha6	T	C	16: 60,205,672	D469G	probably benign	Het
Erc1	A	T	6: 119,630,655	V962E	probably damaging	Het
Esrrb	A	T	12: 86,470,264	S57C	probably damaging	Het
Fam169a	A	G	13: 97,114,120	T320A	possibly damaging	Het
Farsb	C	T	1: 78,425,041		probably benign	Het
Frem3	T	C	8: 80,612,278	V400A	probably damaging	Het
Frem3	A	T	8: 80,616,222	M1715L	probably benign	Het
Frmpd1	A	G	4: 45,279,632	T786A	probably benign	Het
Gapvd1	A	T	2: 34,704,318	S886T	possibly damaging	Het
Gba2	A	G	4: 43,568,077	S737P	probably damaging	Het
Gm4869	A	G	5: 140,476,030	E529G	probably damaging	Het
Gm525	A	G	11: 89,088,653	N85S	probably damaging	Het
Gnpda1	T	A	18: 38,332,038	D175V	probably benign	Het
Heatr5b	T	C	17: 78,815,586	I655V	probably benign	Het
Hmcn1	G	A	1: 150,715,718	T1910I	probably benign	Het
Idh1	CA	CAA	1: 65,165,188		probably null	Het
Ier2	A	T	8: 84,662,467	D95E	probably damaging	Het
Ifi208	A	G	1: 173,695,804	R547G	possibly damaging	Het
Itih3	T	A	14: 30,912,897	S639C	possibly damaging	Het
March7	G	A	2: 60,243,671		probably null	Het
Mep1b	A	C	18: 21,091,268	T373P	probably damaging	Het
Mlh3	G	A	12: 85,235,723	P1379S	probably damaging	Het
Nav3	T	A	10: 109,769,171	K1014*	probably null	Het
Nme1	A	T	11: 93,960,832	F78I	probably benign	Het
Nos3	T	A	5: 24,371,747	V458D	probably damaging	Het
Noxa1	A	G	2: 25,094,840	F29L	probably benign	Het
Nrcam	G	A	12: 44,578,175	G1055D	probably benign	Het
Nutf2	A	T	8: 105,875,539		probably benign	Het
Olfr1218	T	C	2: 89,055,133	M98V	probably benign	Het
Olfr1272	A	T	2: 90,281,806	Y256*	probably null	Het
Olfr506	A	T	7: 108,612,373	D22V	probably benign	Het
Olfr869	A	T	9: 20,137,334	M73L	possibly damaging	Het
Oog3	A	G	4: 144,157,986	I460T	probably benign	Het
Pde2a	A	T	7: 101,505,929	Y559F	possibly damaging	Het
Pde6d	G	A	1: 86,547,487	Q61*	probably null	Het
Pdpr	A	G	8: 111,125,608	T536A	possibly damaging	Het
Pias4	T	A	10: 81,164,012	K69M	probably damaging	Het
Pigo	A	T	4: 43,023,787	D188E	possibly damaging	Het
Pik3r2	A	G	8: 70,771,363	V270A	probably benign	Het
Plod2	T	A	9: 92,600,748	W456R	probably damaging	Het
Pmpcb	T	C	5: 21,756,834	V450A	probably benign	Het
Poln	G	A	5: 34,129,527	T99I	possibly damaging	Het
Prg2	A	G	2: 84,982,060	D38G	possibly damaging	Het
Psmd7	A	C	8: 107,584,199	Y138D	probably damaging	Het
Ptprk	T	A	10: 28,263,508	Y76*	probably null	Het
Ranbp2	T	A	10: 58,492,592	V2810E	probably damaging	Het
Rgma	A	T	7: 73,417,900	H411L	probably damaging	Het
Sapcd1	T	C	17: 35,027,838	T25A	probably damaging	Het
Serpinb6e	T	C	13: 33,840,994	I105V	possibly damaging	Het
Serpinb9f	A	T	13: 33,329,413	T158S	probably benign	Het
Sirpb1b	T	A	3: 15,548,783	T80S	probably benign	Het
Skint6	A	T	4: 113,192,672	S265R	possibly damaging	Het
Slc23a2	A	T	2: 132,060,709	F524L	probably benign	Het
Slc2a13	C	A	15: 91,350,099	G345C	probably damaging	Het
Sp110	A	G	1: 85,583,510		probably null	Het
Srcin1	A	G	11: 97,548,977	V109A	probably benign	Het
Tfcp2l1	A	G	1: 118,632,388	N70S	probably damaging	Het
Tmem30c	T	A	16: 57,270,190	H218L	probably benign	Het
Tmprss11d	G	A	5: 86,338,821	T70I	probably damaging	Het
Tnpo2	A	T	8: 85,038,485	Q32L	probably benign	Het
Trav16n	A	C	14: 53,351,410	T48P	probably damaging	Het
Ufc1	A	G	1: 171,289,522	Y110H	probably damaging	Het
Wars2	A	G	3: 99,216,572	K250E	probably damaging	Het
Wdfy4	G	T	14: 33,147,092	N326K	probably benign	Het
Xirp2	A	T	2: 67,511,213	E1266V	probably damaging	Het
Zfp423	A	C	8: 87,781,229	L829R	probably damaging	Het
Zfp735	A	G	11: 73,712,203	K658E	possibly damaging	Het
Zscan12	T	A	13: 21,363,677	C10S	possibly damaging	Het
Zswim3	T	A	2: 164,820,767	M389K	probably damaging	Het

Other mutations in Adamts7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00547:Adamts7	APN	9	90194249	missense	possibly damaging	0.71
IGL00673:Adamts7	APN	9	90193661	missense	possibly damaging	0.78
IGL00902:Adamts7	APN	9	90188794	critical splice donor site	probably null
IGL01303:Adamts7	APN	9	90171734	missense	possibly damaging	0.46
IGL01333:Adamts7	APN	9	90186979	missense	probably damaging	1.00
IGL01431:Adamts7	APN	9	90207785	missense	possibly damaging	0.89
IGL01595:Adamts7	APN	9	90193306	missense	probably benign	0.02
IGL02728:Adamts7	APN	9	90191827	splice site	probably benign
IGL02860:Adamts7	APN	9	90191862	missense	probably benign
IGL03237:Adamts7	APN	9	90188664	missense	probably damaging	1.00
PIT4495001:Adamts7	UTSW	9	90174622	missense	probably damaging	1.00
R0044:Adamts7	UTSW	9	90171588	missense	possibly damaging	0.58
R0078:Adamts7	UTSW	9	90179411	missense	probably damaging	1.00
R0107:Adamts7	UTSW	9	90180720	missense	possibly damaging	0.82
R0122:Adamts7	UTSW	9	90179421	missense	probably damaging	1.00
R0166:Adamts7	UTSW	9	90193692	missense	probably benign	0.00
R0517:Adamts7	UTSW	9	90199858	missense	probably benign	0.01
R1442:Adamts7	UTSW	9	90188770	missense	probably damaging	0.99
R1468:Adamts7	UTSW	9	90188798	splice site	probably benign
R1554:Adamts7	UTSW	9	90173650	missense	probably damaging	1.00
R1612:Adamts7	UTSW	9	90188697	missense	possibly damaging	0.86
R1652:Adamts7	UTSW	9	90189644	missense	probably damaging	1.00
R2007:Adamts7	UTSW	9	90177856	missense	probably damaging	1.00
R2091:Adamts7	UTSW	9	90188440	critical splice donor site	probably null
R2202:Adamts7	UTSW	9	90180676	missense	probably damaging	1.00
R2204:Adamts7	UTSW	9	90180676	missense	probably damaging	1.00
R2205:Adamts7	UTSW	9	90180676	missense	probably damaging	1.00
R2305:Adamts7	UTSW	9	90180711	missense	probably benign	0.39
R2409:Adamts7	UTSW	9	90180687	missense	probably damaging	1.00
R4157:Adamts7	UTSW	9	90188361	missense	probably damaging	1.00
R4210:Adamts7	UTSW	9	90194010	missense	possibly damaging	0.95
R4368:Adamts7	UTSW	9	90195851	critical splice donor site	probably null
R4533:Adamts7	UTSW	9	90180708	missense	probably damaging	1.00
R4608:Adamts7	UTSW	9	90174540	missense	probably damaging	1.00
R4623:Adamts7	UTSW	9	90186462	missense	probably benign	0.17
R4661:Adamts7	UTSW	9	90193330	missense	probably benign	0.02
R4820:Adamts7	UTSW	9	90189686	missense	possibly damaging	0.62
R4942:Adamts7	UTSW	9	90163311	missense	probably benign
R4961:Adamts7	UTSW	9	90185740	missense	probably damaging	1.00
R5064:Adamts7	UTSW	9	90195830	missense	probably damaging	1.00
R5763:Adamts7	UTSW	9	90188409	missense	probably damaging	1.00
R5921:Adamts7	UTSW	9	90188694	missense	probably benign	0.20
R6027:Adamts7	UTSW	9	90191025	missense	probably damaging	1.00
R6182:Adamts7	UTSW	9	90192436	missense	probably benign	0.01
R6306:Adamts7	UTSW	9	90178278	critical splice donor site	probably null
R6404:Adamts7	UTSW	9	90180456	splice site	probably null
R6488:Adamts7	UTSW	9	90171482	missense	probably benign	0.00
R6649:Adamts7	UTSW	9	90191937	missense	probably damaging	1.00
R6658:Adamts7	UTSW	9	90195300	missense	probably damaging	0.99
R6874:Adamts7	UTSW	9	90188731	missense	probably damaging	1.00
R6947:Adamts7	UTSW	9	90191804	splice site	probably null
R7110:Adamts7	UTSW	9	90193964	missense	possibly damaging	0.92
R7224:Adamts7	UTSW	9	90185815	missense	probably damaging	1.00
R7239:Adamts7	UTSW	9	90186557	splice site	probably null
R7519:Adamts7	UTSW	9	90197079	missense	probably benign	0.22
R7608:Adamts7	UTSW	9	90173773	missense	possibly damaging	0.68
R7635:Adamts7	UTSW	9	90195245	missense	probably damaging	1.00
R7699:Adamts7	UTSW	9	90188739	missense	probably damaging	1.00
R8519:Adamts7	UTSW	9	90193557	nonsense	probably null
R8680:Adamts7	UTSW	9	90195268	missense	probably damaging	1.00
R8743:Adamts7	UTSW	9	90195243	missense	probably damaging	0.99
R8784:Adamts7	UTSW	9	90193865	missense	probably null	0.00
R8851:Adamts7	UTSW	9	90193110	missense	probably benign	0.00
R9025:Adamts7	UTSW	9	90185795	nonsense	probably null
R9038:Adamts7	UTSW	9	90174639	missense
R9101:Adamts7	UTSW	9	90189741	critical splice donor site	probably null
R9256:Adamts7	UTSW	9	90178165	missense	probably damaging	1.00
R9261:Adamts7	UTSW	9	90193344	missense	probably benign	0.01
R9385:Adamts7	UTSW	9	90195205	nonsense	probably null
R9614:Adamts7	UTSW	9	90195198	missense	probably damaging	1.00
X0028:Adamts7	UTSW	9	90178217	missense	probably benign	0.30

Predicted Primers

PCR Primer
(F):5'- CCTTTTCCAGCCCAGAACTG -3'
(R):5'- CACTCTCCAAGGATGAACAGGG -3'

Sequencing Primer
(F):5'- TAAAAACTCTGACAATGCCTGGG -3'
(R):5'- AACAGGGCTGTGTCTTGCTC -3'

Posted On

2021-04-30