Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03131:Adamts12'

410355

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Adamts12

Ensembl Gene

ENSMUSG00000047497

Gene Name

a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 12

Synonyms

AI605170; ADAMTS-12

Accession Numbers

Genbank: NM_175501.2; MGI:2146046

Is this an essential gene?

Probably non essential (E-score: 0.095) question?

Stock #

IGL03131

Quality Score

Status

Chromosome

Chromosomal Location

11064790-11349231 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 11345564 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 1564 (C1564R)

Ref Sequence

ENSEMBL: ENSMUSP00000057796 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061318]

Predicted Effect

probably damaging
Transcript: ENSMUST00000061318
AA Change: C1564R

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

SMART Domains

Protein: ENSMUSP00000057796
Gene: ENSMUSG00000047497
AA Change: C1564R

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
Pfam:Pep_M12B_propep	53	197	5.5e-30	PFAM
low complexity region	236	245	N/A	INTRINSIC
Pfam:Reprolysin_5	248	438	1.6e-14	PFAM
Pfam:Reprolysin_4	248	453	6.7e-8	PFAM
Pfam:Reprolysin	250	460	1.2e-27	PFAM
Pfam:Reprolysin_2	268	450	5.5e-11	PFAM
Pfam:Reprolysin_3	272	407	3.5e-10	PFAM
TSP1	549	601	9.29e-14	SMART
Pfam:ADAM_spacer1	706	817	4.8e-36	PFAM
TSP1	831	887	4.66e-5	SMART
TSP1	890	949	2.54e-1	SMART
TSP1	951	1001	8.95e-7	SMART
low complexity region	1032	1047	N/A	INTRINSIC
low complexity region	1130	1141	N/A	INTRINSIC
TSP1	1321	1371	2.22e-2	SMART
TSP1	1372	1431	9.97e-2	SMART
TSP1	1432	1479	1.19e-2	SMART
TSP1	1480	1538	2.63e-4	SMART

Coding Region Coverage

Validation Efficiency

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 protease. Mice lacking the encoded protein exhibit increased angiogenic response and tumor invasion in different models of angiogenesis and, severe inflammation and delayed recovery when subjected to experimental conditions that induce colitis, endotoxic sepsis and pancreatitis. [provided by RefSeq, Jul 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased tumor vascularization, tumor invasion, and angiogenesis. [provided by MGI curators]

Allele List at MGI

All alleles(1) : Targeted, knock-out(1)

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432M17Rik	A	C	3: 121,679,602	R135S	unknown	Het
A1bg	T	C	15: 60,919,756	Y277C	probably damaging	Het
Abca12	A	T	1: 71,346,702	F252L	probably benign	Het
Abcd3	A	T	3: 121,781,991		probably benign	Het
Acvr2b	C	A	9: 119,431,284	F364L	possibly damaging	Het
Agap3	A	G	5: 24,477,132	T392A	probably benign	Het
Ano1	A	G	7: 144,603,585	F767L	possibly damaging	Het
Atg10	C	A	13: 90,937,293	R179I	probably null	Het
Bsph1	A	T	7: 13,473,087	K129N	probably damaging	Het
Calml4	A	G	9: 62,875,483	D77G	probably benign	Het
Cc2d1a	T	A	8: 84,143,427	K153M	probably damaging	Het
Col4a2	G	A	8: 11,425,979	V672I	probably benign	Het
Crnkl1	T	C	2: 145,932,258	K95R	probably benign	Het
Crtap	T	C	9: 114,380,004	D324G	possibly damaging	Het
Csmd1	C	T	8: 16,088,217	G1607E	probably damaging	Het
Dcbld2	T	G	16: 58,451,688	I369R	probably benign	Het
Dmc1	T	A	15: 79,568,691	I246L	probably benign	Het
Dock1	G	T	7: 134,874,183	V896L	possibly damaging	Het
Eftud2	G	A	11: 102,870,183	T112M	probably damaging	Het
F5	A	T	1: 164,161,819	I97F	possibly damaging	Het
Fam208a	C	T	14: 27,461,179	Q532*	probably null	Het
Fasn	C	T	11: 120,810,724	V1939M	possibly damaging	Het
Gpatch2l	T	C	12: 86,281,511	V414A	probably benign	Het
Gpd2	T	C	2: 57,338,843		probably benign	Het
Gria4	T	G	9: 4,432,876	N769T	probably damaging	Het
Gtf3c2	A	T	5: 31,157,620	F885I	probably damaging	Het
Ifi209	C	T	1: 173,641,234	T210I	possibly damaging	Het
Kmt2c	A	G	5: 25,315,361	V1917A	probably benign	Het
Mad1l1	G	A	5: 140,307,703	A120V	probably benign	Het
Mef2c	T	C	13: 83,662,375	I382T	probably damaging	Het
Ms4a14	A	T	19: 11,307,692	L171I	probably benign	Het
Myf6	T	A	10: 107,494,271	Q145L	probably damaging	Het
Myh3	G	A	11: 67,091,109		probably benign	Het
Nbas	A	G	12: 13,279,416	I121V	probably benign	Het
Ncoa2	A	T	1: 13,177,174	S342T	probably damaging	Het
Nlrp1b	C	T	11: 71,161,915	D896N	possibly damaging	Het
Prss41	A	G	17: 23,842,524	Y98H	probably benign	Het
Ptpn13	A	T	5: 103,517,559	T450S	probably benign	Het
Rab39	G	A	9: 53,686,561	R135C	probably damaging	Het
Radil	A	G	5: 142,495,342	V570A	probably damaging	Het
Sbno1	C	T	5: 124,388,605	R949Q	probably damaging	Het
Sec61a2	T	A	2: 5,882,878	K98*	probably null	Het
Serbp1	T	A	6: 67,281,823		probably null	Het
Serpinb3c	G	T	1: 107,271,727	Q355K	probably benign	Het
Slc34a3	T	G	2: 25,231,234	D307A	probably benign	Het
Smarcad1	T	A	6: 65,074,953	S357T	probably damaging	Het
Spag17	G	A	3: 100,010,759	D353N	possibly damaging	Het
Spdl1	T	A	11: 34,830,765	Q39L	possibly damaging	Het
Syne2	A	C	12: 76,057,490	Q5485P	probably damaging	Het
Synj1	C	A	16: 90,988,168	V227F	probably damaging	Het
Syt12	T	C	19: 4,456,854	T88A	probably benign	Het
Tlr12	A	G	4: 128,615,877	F860S	probably damaging	Het
Trdn	C	A	10: 33,398,414	S461*	probably null	Het
Trip4	G	A	9: 65,857,445	P413S	probably benign	Het
Wdr17	A	G	8: 54,696,267		probably null	Het
Wnt9a	T	C	11: 59,331,029	L251P	probably damaging	Het
Xrcc1	A	T	7: 24,573,294	K618*	probably null	Het
Zfp759	T	C	13: 67,138,664	L93P	probably damaging	Het

Other mutations in Adamts12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00229:Adamts12	APN	15	11311599	missense	probably benign	0.00
IGL00513:Adamts12	APN	15	11256961	missense	probably benign	0.28
IGL00579:Adamts12	APN	15	11152014	missense	probably benign	0.20
IGL00984:Adamts12	APN	15	11215610	missense	probably benign	0.01
IGL01307:Adamts12	APN	15	11237546	missense	possibly damaging	0.88
IGL01314:Adamts12	APN	15	11071853	missense	probably benign	0.30
IGL01353:Adamts12	APN	15	11292005	splice site	probably benign
IGL01373:Adamts12	APN	15	11310730	missense	probably benign	0.00
IGL01522:Adamts12	APN	15	11065159	critical splice donor site	probably null
IGL01589:Adamts12	APN	15	11311237	missense	probably benign	0.26
IGL01715:Adamts12	APN	15	11258096	missense	possibly damaging	0.47
IGL01966:Adamts12	APN	15	11258183	missense	probably damaging	0.98
IGL01994:Adamts12	APN	15	11345594	missense	probably damaging	1.00
IGL02058:Adamts12	APN	15	11215610	missense	probably benign	0.01
IGL02216:Adamts12	APN	15	11241485	missense	possibly damaging	0.63
IGL02252:Adamts12	APN	15	11311015	missense	probably benign	0.01
IGL02336:Adamts12	APN	15	11311245	missense	probably benign	0.02
IGL02445:Adamts12	APN	15	11286712	missense	probably damaging	1.00
IGL03115:Adamts12	APN	15	11263336	missense	probably damaging	1.00
IGL03161:Adamts12	APN	15	11292082	missense	possibly damaging	0.93
IGL03403:Adamts12	APN	15	11241488	missense	probably damaging	1.00
I2289:Adamts12	UTSW	15	11071808	missense	probably benign	0.13
PIT4677001:Adamts12	UTSW	15	11286810	missense	probably benign	0.33
R0016:Adamts12	UTSW	15	11217829	missense	probably damaging	1.00
R0016:Adamts12	UTSW	15	11217829	missense	probably damaging	1.00
R0027:Adamts12	UTSW	15	11285873	missense	probably damaging	0.99
R0027:Adamts12	UTSW	15	11285873	missense	probably damaging	0.99
R0028:Adamts12	UTSW	15	11215624	missense	probably damaging	1.00
R0108:Adamts12	UTSW	15	11311098	missense	probably benign	0.08
R0108:Adamts12	UTSW	15	11311098	missense	probably benign	0.08
R0122:Adamts12	UTSW	15	11215624	missense	probably damaging	1.00
R0196:Adamts12	UTSW	15	11071508	missense	probably benign	0.11
R0308:Adamts12	UTSW	15	11311560	missense	probably damaging	0.98
R0335:Adamts12	UTSW	15	11311058	missense	possibly damaging	0.95
R0667:Adamts12	UTSW	15	11215624	missense	probably damaging	1.00
R0729:Adamts12	UTSW	15	11255683	missense	possibly damaging	0.91
R1162:Adamts12	UTSW	15	11277458	critical splice donor site	probably null
R1173:Adamts12	UTSW	15	11071757	missense	probably benign
R1174:Adamts12	UTSW	15	11071757	missense	probably benign
R1319:Adamts12	UTSW	15	11286791	missense	probably benign	0.02
R1344:Adamts12	UTSW	15	11286804	missense	probably damaging	1.00
R1367:Adamts12	UTSW	15	11256894	splice site	probably benign
R1396:Adamts12	UTSW	15	11311472	missense	probably benign	0.01
R1418:Adamts12	UTSW	15	11286804	missense	probably damaging	1.00
R1447:Adamts12	UTSW	15	11263361	missense	probably benign	0.42
R1466:Adamts12	UTSW	15	11311359	missense	probably benign
R1466:Adamts12	UTSW	15	11311359	missense	probably benign
R1599:Adamts12	UTSW	15	11071711	missense	probably damaging	0.99
R1700:Adamts12	UTSW	15	11152057	missense	probably benign	0.00
R1748:Adamts12	UTSW	15	11241462	missense	probably damaging	0.99
R1826:Adamts12	UTSW	15	11071520	missense	probably benign	0.06
R1870:Adamts12	UTSW	15	11311154	missense	probably benign	0.06
R1871:Adamts12	UTSW	15	11311154	missense	probably benign	0.06
R1872:Adamts12	UTSW	15	11217880	nonsense	probably null
R1931:Adamts12	UTSW	15	11270599	missense	probably benign	0.00
R2041:Adamts12	UTSW	15	11215735	missense	probably damaging	1.00
R2119:Adamts12	UTSW	15	11310579	missense	probably damaging	1.00
R2120:Adamts12	UTSW	15	11310579	missense	probably damaging	1.00
R2122:Adamts12	UTSW	15	11310579	missense	probably damaging	1.00
R2161:Adamts12	UTSW	15	11215735	missense	probably damaging	0.99
R2655:Adamts12	UTSW	15	11065088	missense	possibly damaging	0.50
R4010:Adamts12	UTSW	15	11286083	missense	possibly damaging	0.69
R4208:Adamts12	UTSW	15	11071754	missense	probably benign
R4666:Adamts12	UTSW	15	11311492	missense	probably benign	0.08
R4731:Adamts12	UTSW	15	11270662	missense	probably damaging	1.00
R4732:Adamts12	UTSW	15	11270662	missense	probably damaging	1.00
R4733:Adamts12	UTSW	15	11270662	missense	probably damaging	1.00
R4766:Adamts12	UTSW	15	11285901	missense	probably benign	0.03
R4877:Adamts12	UTSW	15	11327701	missense	probably damaging	1.00
R4929:Adamts12	UTSW	15	11259022	missense	probably damaging	0.96
R5060:Adamts12	UTSW	15	11299968	missense	probably damaging	1.00
R5145:Adamts12	UTSW	15	11285876	missense	probably damaging	1.00
R5191:Adamts12	UTSW	15	11327757	missense	probably benign	0.18
R5492:Adamts12	UTSW	15	11336298	missense	probably benign	0.05
R5580:Adamts12	UTSW	15	11152000	missense	probably benign	0.14
R5645:Adamts12	UTSW	15	11277420	missense	possibly damaging	0.92
R5724:Adamts12	UTSW	15	11286750	missense	probably benign	0.15
R6240:Adamts12	UTSW	15	11285958	missense	probably benign	0.44
R6331:Adamts12	UTSW	15	11241433	missense	probably damaging	1.00
R6381:Adamts12	UTSW	15	11256994	missense	possibly damaging	0.93
R6393:Adamts12	UTSW	15	11255635	missense	probably damaging	0.97
R6419:Adamts12	UTSW	15	11215673	missense	possibly damaging	0.72
R6571:Adamts12	UTSW	15	11065101	missense	probably benign	0.00
R6821:Adamts12	UTSW	15	11152048	missense	probably benign	0.14
R6913:Adamts12	UTSW	15	11215692	missense	probably damaging	1.00
R6973:Adamts12	UTSW	15	11331780	nonsense	probably null
R7188:Adamts12	UTSW	15	11336325	nonsense	probably null
R7290:Adamts12	UTSW	15	11277366	missense	probably benign	0.08
R7307:Adamts12	UTSW	15	11217813	missense	probably damaging	1.00
R7376:Adamts12	UTSW	15	11277339	missense	possibly damaging	0.69
R7419:Adamts12	UTSW	15	11317279	missense	probably benign	0.00
R7484:Adamts12	UTSW	15	11345648	missense	probably benign	0.25
R7562:Adamts12	UTSW	15	11270611	missense	probably benign	0.01
R7653:Adamts12	UTSW	15	11257029	missense	probably benign	0.28
R7696:Adamts12	UTSW	15	11258138	missense	probably damaging	1.00
V1662:Adamts12	UTSW	15	11071808	missense	probably benign	0.13
X0022:Adamts12	UTSW	15	11277448	missense	probably benign	0.30

Posted On

2016-08-02