Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02216:Adamts12'

284889

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Adamts12

Ensembl Gene

ENSMUSG00000047497

Gene Name

ADAM metallopeptidase with thrombospondin type 1 motif 12

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

IGL02216

Quality Score

Status

Chromosome

Chromosomal Location

11064876-11349317 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 11241571 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 381 (N381S)

Ref Sequence

ENSEMBL: ENSMUSP00000057796 (fasta)

Gene Model

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

AlphaFold

Q811B3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000061318
AA Change: N381S

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000057796
Gene: ENSMUSG00000047497
AA Change: N381S

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930544D05Rik	T	C	11: 70,507,005 (GRCm39)	F48L	possibly damaging	Het
Akp3	A	T	1: 87,055,372 (GRCm39)	Q473L	probably damaging	Het
Albfm1	T	C	5: 90,727,438 (GRCm39)		probably benign	Het
Ap5s1	T	A	2: 131,054,887 (GRCm39)		probably benign	Het
Atp10b	T	A	11: 43,150,616 (GRCm39)	L1438Q	probably damaging	Het
B3galt4	G	A	17: 34,169,539 (GRCm39)	P233L	probably damaging	Het
Brd8	C	T	18: 34,735,780 (GRCm39)	S899N	probably damaging	Het
Cc2d1a	C	A	8: 84,865,942 (GRCm39)	E393*	probably null	Het
Cd209a	G	T	8: 3,795,576 (GRCm39)	T165N	probably damaging	Het
Chid1	T	C	7: 141,076,506 (GRCm39)		probably benign	Het
Cln3	A	T	7: 126,174,514 (GRCm39)		probably null	Het
Cped1	A	T	6: 22,059,944 (GRCm39)	R203S	probably damaging	Het
Dele1	A	T	18: 38,385,913 (GRCm39)	I102F	probably damaging	Het
Dnttip2	G	T	3: 122,069,910 (GRCm39)	W375L	probably benign	Het
Dync1h1	T	C	12: 110,629,436 (GRCm39)	F4280S	probably damaging	Het
Ephb4	A	G	5: 137,370,332 (GRCm39)	D844G	possibly damaging	Het
Fhl2	T	A	1: 43,170,879 (GRCm39)	E145V	probably null	Het
Gne	T	C	4: 44,044,761 (GRCm39)	K458E	probably benign	Het
Grid2	G	T	6: 64,322,650 (GRCm39)	R550L	probably damaging	Het
Klhl1	T	A	14: 96,360,658 (GRCm39)	T731S	probably benign	Het
Kng1	T	A	16: 22,877,283 (GRCm39)	D30E	probably damaging	Het
Kyat1	A	G	2: 30,077,264 (GRCm39)	V158A	probably benign	Het
Mcm8	G	T	2: 132,681,449 (GRCm39)	V642F	probably damaging	Het
Mdn1	C	T	4: 32,739,092 (GRCm39)	H3638Y	probably benign	Het
Neb	T	G	2: 52,116,502 (GRCm39)	T4158P	probably benign	Het
Neo1	T	C	9: 58,824,336 (GRCm39)	I697M	probably damaging	Het
Nfkb1	A	T	3: 135,300,724 (GRCm39)	V614D	probably damaging	Het
Or7e169	G	A	9: 19,757,861 (GRCm39)	S18L	probably damaging	Het
Otog	T	C	7: 45,950,892 (GRCm39)	S2555P	probably damaging	Het
Pkd1l1	T	A	11: 8,784,897 (GRCm39)	R1962S	probably damaging	Het
Plxnb1	A	G	9: 108,929,918 (GRCm39)	Y258C	probably damaging	Het
Pramel12	T	A	4: 143,144,298 (GRCm39)		probably null	Het
Prl3a1	A	G	13: 27,454,127 (GRCm39)	D35G	probably benign	Het
Rag1	A	T	2: 101,473,726 (GRCm39)	V472D	possibly damaging	Het
Rbpj-ps3	G	A	6: 46,506,641 (GRCm39)		probably benign	Het
Rnf112	C	T	11: 61,340,804 (GRCm39)	V472M	probably damaging	Het
Rps18	A	G	17: 34,171,015 (GRCm39)		probably benign	Het
Rptn	T	C	3: 93,303,080 (GRCm39)	S138P	possibly damaging	Het
Sbpl	A	C	17: 24,172,690 (GRCm39)	N76K	probably benign	Het
Sh3bp1	A	T	15: 78,789,364 (GRCm39)	M241L	probably benign	Het
Slc22a17	T	C	14: 55,145,433 (GRCm39)	*198W	probably null	Het
Smc3	C	T	19: 53,610,275 (GRCm39)	R221C	probably damaging	Het
Snai1	A	G	2: 167,380,768 (GRCm39)	E87G	probably benign	Het
Snx22	C	A	9: 65,976,470 (GRCm39)	A49S	probably benign	Het
Tas2r143	A	T	6: 42,377,268 (GRCm39)	R33*	probably null	Het
Try4	A	G	6: 41,281,965 (GRCm39)	I184V	probably benign	Het
Ttn	T	A	2: 76,584,896 (GRCm39)	K20355*	probably null	Het
Ttn	A	G	2: 76,622,069 (GRCm39)	V15491A	probably benign	Het
Tut7	T	C	13: 59,948,237 (GRCm39)	T293A	probably benign	Het
Vmn1r170	A	G	7: 23,305,915 (GRCm39)	T106A	probably damaging	Het
Vmn2r59	A	T	7: 41,661,817 (GRCm39)	V666E	probably damaging	Het
Vsx1	T	C	2: 150,526,495 (GRCm39)	N221S	possibly damaging	Het
Zfp846	A	G	9: 20,499,905 (GRCm39)	E45G	probably damaging	Het

Other mutations in Adamts12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00229:Adamts12	APN	15	11,311,685 (GRCm39)	missense	probably benign	0.00
IGL00513:Adamts12	APN	15	11,257,047 (GRCm39)	missense	probably benign	0.28
IGL00579:Adamts12	APN	15	11,152,100 (GRCm39)	missense	probably benign	0.20
IGL00984:Adamts12	APN	15	11,215,696 (GRCm39)	missense	probably benign	0.01
IGL01307:Adamts12	APN	15	11,237,632 (GRCm39)	missense	possibly damaging	0.88
IGL01314:Adamts12	APN	15	11,071,939 (GRCm39)	missense	probably benign	0.30
IGL01353:Adamts12	APN	15	11,292,091 (GRCm39)	splice site	probably benign
IGL01373:Adamts12	APN	15	11,310,816 (GRCm39)	missense	probably benign	0.00
IGL01522:Adamts12	APN	15	11,065,245 (GRCm39)	critical splice donor site	probably null
IGL01589:Adamts12	APN	15	11,311,323 (GRCm39)	missense	probably benign	0.26
IGL01715:Adamts12	APN	15	11,258,182 (GRCm39)	missense	possibly damaging	0.47
IGL01966:Adamts12	APN	15	11,258,269 (GRCm39)	missense	probably damaging	0.98
IGL01994:Adamts12	APN	15	11,345,680 (GRCm39)	missense	probably damaging	1.00
IGL02058:Adamts12	APN	15	11,215,696 (GRCm39)	missense	probably benign	0.01
IGL02252:Adamts12	APN	15	11,311,101 (GRCm39)	missense	probably benign	0.01
IGL02336:Adamts12	APN	15	11,311,331 (GRCm39)	missense	probably benign	0.02
IGL02445:Adamts12	APN	15	11,286,798 (GRCm39)	missense	probably damaging	1.00
IGL03115:Adamts12	APN	15	11,263,422 (GRCm39)	missense	probably damaging	1.00
IGL03131:Adamts12	APN	15	11,345,650 (GRCm39)	missense	probably damaging	1.00
IGL03161:Adamts12	APN	15	11,292,168 (GRCm39)	missense	possibly damaging	0.93
IGL03403:Adamts12	APN	15	11,241,574 (GRCm39)	missense	probably damaging	1.00
I2289:Adamts12	UTSW	15	11,071,894 (GRCm39)	missense	probably benign	0.13
PIT4677001:Adamts12	UTSW	15	11,286,896 (GRCm39)	missense	probably benign	0.33
R0016:Adamts12	UTSW	15	11,217,915 (GRCm39)	missense	probably damaging	1.00
R0016:Adamts12	UTSW	15	11,217,915 (GRCm39)	missense	probably damaging	1.00
R0027:Adamts12	UTSW	15	11,285,959 (GRCm39)	missense	probably damaging	0.99
R0027:Adamts12	UTSW	15	11,285,959 (GRCm39)	missense	probably damaging	0.99
R0028:Adamts12	UTSW	15	11,215,710 (GRCm39)	missense	probably damaging	1.00
R0108:Adamts12	UTSW	15	11,311,184 (GRCm39)	missense	probably benign	0.08
R0108:Adamts12	UTSW	15	11,311,184 (GRCm39)	missense	probably benign	0.08
R0122:Adamts12	UTSW	15	11,215,710 (GRCm39)	missense	probably damaging	1.00
R0196:Adamts12	UTSW	15	11,071,594 (GRCm39)	missense	probably benign	0.11
R0308:Adamts12	UTSW	15	11,311,646 (GRCm39)	missense	probably damaging	0.98
R0335:Adamts12	UTSW	15	11,311,144 (GRCm39)	missense	possibly damaging	0.95
R0667:Adamts12	UTSW	15	11,215,710 (GRCm39)	missense	probably damaging	1.00
R0729:Adamts12	UTSW	15	11,255,769 (GRCm39)	missense	possibly damaging	0.91
R1162:Adamts12	UTSW	15	11,277,544 (GRCm39)	critical splice donor site	probably null
R1173:Adamts12	UTSW	15	11,071,843 (GRCm39)	missense	probably benign
R1174:Adamts12	UTSW	15	11,071,843 (GRCm39)	missense	probably benign
R1319:Adamts12	UTSW	15	11,286,877 (GRCm39)	missense	probably benign	0.02
R1344:Adamts12	UTSW	15	11,286,890 (GRCm39)	missense	probably damaging	1.00
R1367:Adamts12	UTSW	15	11,256,980 (GRCm39)	splice site	probably benign
R1396:Adamts12	UTSW	15	11,311,558 (GRCm39)	missense	probably benign	0.01
R1418:Adamts12	UTSW	15	11,286,890 (GRCm39)	missense	probably damaging	1.00
R1447:Adamts12	UTSW	15	11,263,447 (GRCm39)	missense	probably benign	0.42
R1466:Adamts12	UTSW	15	11,311,445 (GRCm39)	missense	probably benign
R1466:Adamts12	UTSW	15	11,311,445 (GRCm39)	missense	probably benign
R1599:Adamts12	UTSW	15	11,071,797 (GRCm39)	missense	probably damaging	0.99
R1700:Adamts12	UTSW	15	11,152,143 (GRCm39)	missense	probably benign	0.00
R1748:Adamts12	UTSW	15	11,241,548 (GRCm39)	missense	probably damaging	0.99
R1826:Adamts12	UTSW	15	11,071,606 (GRCm39)	missense	probably benign	0.06
R1870:Adamts12	UTSW	15	11,311,240 (GRCm39)	missense	probably benign	0.06
R1871:Adamts12	UTSW	15	11,311,240 (GRCm39)	missense	probably benign	0.06
R1872:Adamts12	UTSW	15	11,217,966 (GRCm39)	nonsense	probably null
R1931:Adamts12	UTSW	15	11,270,685 (GRCm39)	missense	probably benign	0.00
R2041:Adamts12	UTSW	15	11,215,821 (GRCm39)	missense	probably damaging	1.00
R2119:Adamts12	UTSW	15	11,310,665 (GRCm39)	missense	probably damaging	1.00
R2120:Adamts12	UTSW	15	11,310,665 (GRCm39)	missense	probably damaging	1.00
R2122:Adamts12	UTSW	15	11,310,665 (GRCm39)	missense	probably damaging	1.00
R2161:Adamts12	UTSW	15	11,215,821 (GRCm39)	missense	probably damaging	0.99
R2655:Adamts12	UTSW	15	11,065,174 (GRCm39)	missense	possibly damaging	0.50
R4010:Adamts12	UTSW	15	11,286,169 (GRCm39)	missense	possibly damaging	0.69
R4208:Adamts12	UTSW	15	11,071,840 (GRCm39)	missense	probably benign
R4666:Adamts12	UTSW	15	11,311,578 (GRCm39)	missense	probably benign	0.08
R4731:Adamts12	UTSW	15	11,270,748 (GRCm39)	missense	probably damaging	1.00
R4732:Adamts12	UTSW	15	11,270,748 (GRCm39)	missense	probably damaging	1.00
R4733:Adamts12	UTSW	15	11,270,748 (GRCm39)	missense	probably damaging	1.00
R4766:Adamts12	UTSW	15	11,285,987 (GRCm39)	missense	probably benign	0.03
R4877:Adamts12	UTSW	15	11,327,787 (GRCm39)	missense	probably damaging	1.00
R4929:Adamts12	UTSW	15	11,259,108 (GRCm39)	missense	probably damaging	0.96
R5060:Adamts12	UTSW	15	11,300,054 (GRCm39)	missense	probably damaging	1.00
R5145:Adamts12	UTSW	15	11,285,962 (GRCm39)	missense	probably damaging	1.00
R5191:Adamts12	UTSW	15	11,327,843 (GRCm39)	missense	probably benign	0.18
R5492:Adamts12	UTSW	15	11,336,384 (GRCm39)	missense	probably benign	0.05
R5580:Adamts12	UTSW	15	11,152,086 (GRCm39)	missense	probably benign	0.14
R5645:Adamts12	UTSW	15	11,277,506 (GRCm39)	missense	possibly damaging	0.92
R5724:Adamts12	UTSW	15	11,286,836 (GRCm39)	missense	probably benign	0.15
R6240:Adamts12	UTSW	15	11,286,044 (GRCm39)	missense	probably benign	0.44
R6331:Adamts12	UTSW	15	11,241,519 (GRCm39)	missense	probably damaging	1.00
R6381:Adamts12	UTSW	15	11,257,080 (GRCm39)	missense	possibly damaging	0.93
R6393:Adamts12	UTSW	15	11,255,721 (GRCm39)	missense	probably damaging	0.97
R6419:Adamts12	UTSW	15	11,215,759 (GRCm39)	missense	possibly damaging	0.72
R6571:Adamts12	UTSW	15	11,065,187 (GRCm39)	missense	probably benign	0.00
R6821:Adamts12	UTSW	15	11,152,134 (GRCm39)	missense	probably benign	0.14
R6913:Adamts12	UTSW	15	11,215,778 (GRCm39)	missense	probably damaging	1.00
R6973:Adamts12	UTSW	15	11,331,866 (GRCm39)	nonsense	probably null
R7188:Adamts12	UTSW	15	11,336,411 (GRCm39)	nonsense	probably null
R7290:Adamts12	UTSW	15	11,277,452 (GRCm39)	missense	probably benign	0.08
R7307:Adamts12	UTSW	15	11,217,899 (GRCm39)	missense	probably damaging	1.00
R7376:Adamts12	UTSW	15	11,277,425 (GRCm39)	missense	possibly damaging	0.69
R7419:Adamts12	UTSW	15	11,317,365 (GRCm39)	missense	probably benign	0.00
R7484:Adamts12	UTSW	15	11,345,734 (GRCm39)	missense	probably benign	0.25
R7562:Adamts12	UTSW	15	11,270,697 (GRCm39)	missense	probably benign	0.01
R7653:Adamts12	UTSW	15	11,257,115 (GRCm39)	missense	probably benign	0.28
R7696:Adamts12	UTSW	15	11,258,224 (GRCm39)	missense	probably damaging	1.00
R7957:Adamts12	UTSW	15	11,317,298 (GRCm39)	missense	possibly damaging	0.96
R7980:Adamts12	UTSW	15	11,263,423 (GRCm39)	missense	probably damaging	1.00
R7992:Adamts12	UTSW	15	11,310,904 (GRCm39)	missense	probably benign
R8032:Adamts12	UTSW	15	11,259,189 (GRCm39)	critical splice donor site	probably null
R8109:Adamts12	UTSW	15	11,331,877 (GRCm39)	missense	probably benign	0.02
R8402:Adamts12	UTSW	15	11,263,376 (GRCm39)	missense	probably damaging	0.96
R8751:Adamts12	UTSW	15	11,215,813 (GRCm39)	missense	probably damaging	1.00
R8782:Adamts12	UTSW	15	11,237,678 (GRCm39)	missense	probably damaging	1.00
R8934:Adamts12	UTSW	15	11,300,015 (GRCm39)	missense	probably damaging	0.99
R8952:Adamts12	UTSW	15	11,286,065 (GRCm39)	missense	probably damaging	1.00
R8963:Adamts12	UTSW	15	11,317,443 (GRCm39)	critical splice donor site	probably null
R9042:Adamts12	UTSW	15	11,152,134 (GRCm39)	missense	probably benign	0.08
R9162:Adamts12	UTSW	15	11,311,721 (GRCm39)	missense	probably benign	0.29
R9190:Adamts12	UTSW	15	11,336,446 (GRCm39)	missense	probably benign	0.02
R9700:Adamts12	UTSW	15	11,311,442 (GRCm39)	missense	probably benign	0.04
R9748:Adamts12	UTSW	15	11,310,628 (GRCm39)	missense	probably damaging	0.99
V1662:Adamts12	UTSW	15	11,071,894 (GRCm39)	missense	probably benign	0.13
X0022:Adamts12	UTSW	15	11,277,534 (GRCm39)	missense	probably benign	0.30
Z1176:Adamts12	UTSW	15	11,336,469 (GRCm39)	missense	not run
Z1177:Adamts12	UTSW	15	11,336,469 (GRCm39)	missense	not run
Z1177:Adamts12	UTSW	15	11,317,410 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16