Mutagenetix > Incidental Mutation

Incidental Mutation 'R2119:Adamts12'

231319

Institutional Source

Beutler Lab

Gene Symbol

Adamts12

Ensembl Gene

ENSMUSG00000047497

Gene Name

ADAM metallopeptidase with thrombospondin type 1 motif 12

Synonyms

MMRRC Submission

040123-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

R2119 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

11064876-11349317 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 11310665 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 974 (T974I)

Ref Sequence

ENSEMBL: ENSMUSP00000057796 (fasta)

Gene Model

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

AlphaFold

Q811B3

Predicted Effect

probably damaging
Transcript: ENSMUST00000061318
AA Change: T974I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000057796
Gene: ENSMUSG00000047497
AA Change: T974I

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

Meta Mutation Damage Score

0.1003

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.8%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933430I17Rik	T	A	4: 62,457,109 (GRCm39)	L143M	possibly damaging	Het
Actbl2	G	A	13: 111,391,694 (GRCm39)	V10I	probably benign	Het
Aifm2	G	A	10: 61,571,383 (GRCm39)	V306M	possibly damaging	Het
Arhgef38	T	C	3: 132,866,514 (GRCm39)	K208E	probably benign	Het
Atxn7l3	C	A	11: 102,182,807 (GRCm39)	R278L	possibly damaging	Het
Bcl9	A	G	3: 97,116,231 (GRCm39)	L821P	probably benign	Het
Cdh19	C	T	1: 110,847,320 (GRCm39)	V430I	probably benign	Het
Clns1a	T	A	7: 97,363,111 (GRCm39)		probably null	Het
Col3a1	T	A	1: 45,385,281 (GRCm39)	C133S	probably damaging	Het
Csmd1	G	A	8: 17,266,749 (GRCm39)	T59I	probably damaging	Het
Cyp2a12	A	G	7: 26,736,071 (GRCm39)	*493W	probably null	Het
Cyp2j8	A	T	4: 96,395,438 (GRCm39)	D62E	probably benign	Het
Dcbld1	A	T	10: 52,196,075 (GRCm39)	M428L	probably benign	Het
Dhx32	A	T	7: 133,323,976 (GRCm39)	Y523*	probably null	Het
Dlgap2	C	T	8: 14,828,206 (GRCm39)	A538V	possibly damaging	Het
Dlgap3	T	C	4: 127,129,982 (GRCm39)	S919P	probably benign	Het
Dmd	G	C	X: 83,356,089 (GRCm39)	A2257P	probably benign	Het
Dsc1	A	T	18: 20,243,209 (GRCm39)	H81Q	probably benign	Het
Dusp8	A	T	7: 141,636,298 (GRCm39)	S431T	possibly damaging	Het
Dync1i1	A	T	6: 5,767,096 (GRCm39)	T59S	probably damaging	Het
Ecel1	A	G	1: 87,075,997 (GRCm39)	S727P	probably damaging	Het
Ednrb	T	A	14: 104,059,204 (GRCm39)	D274V	probably benign	Het
Eef1d	G	T	15: 75,775,062 (GRCm39)	A199E	probably benign	Het
Eml3	T	A	19: 8,911,718 (GRCm39)		probably null	Het
Enah	G	T	1: 181,749,318 (GRCm39)	A138E	probably damaging	Het
Fgf18	A	C	11: 33,068,003 (GRCm39)	F129C	probably damaging	Het
Gba1	A	T	3: 89,112,868 (GRCm39)	E170V	probably benign	Het
Hdac1	C	T	4: 129,416,157 (GRCm39)	R212Q	probably benign	Het
Heatr1	T	A	13: 12,447,527 (GRCm39)	L1740Q	probably null	Het
Inhbb	T	A	1: 119,348,431 (GRCm39)	H129L	probably benign	Het
Inpp5b	T	A	4: 124,691,662 (GRCm39)	H862Q	probably benign	Het
Itsn2	C	A	12: 4,757,025 (GRCm39)	R1372S	probably benign	Het
Jaml	T	A	9: 45,012,362 (GRCm39)	I283N	probably damaging	Het
Klk1b21	A	T	7: 43,755,193 (GRCm39)	T163S	probably benign	Het
Lmo3	A	T	6: 138,393,492 (GRCm39)	C43S	probably damaging	Het
Metrn	C	T	17: 26,014,197 (GRCm39)	V210I	probably benign	Het
Ndufaf7	A	T	17: 79,252,442 (GRCm39)	I284F	possibly damaging	Het
Nlrp6	T	C	7: 140,506,357 (GRCm39)	V766A	probably benign	Het
Or10a5	A	G	7: 106,635,938 (GRCm39)	D192G	probably damaging	Het
Osbpl7	T	C	11: 96,946,905 (GRCm39)	S403P	probably benign	Het
Pabpc4l	T	C	3: 46,401,276 (GRCm39)	T123A	probably benign	Het
Pde6d	A	G	1: 86,473,524 (GRCm39)	F91L	probably benign	Het
Psg20	T	A	7: 18,414,947 (GRCm39)	Y316F	probably benign	Het
Psmd1	T	A	1: 86,006,422 (GRCm39)	S263T	possibly damaging	Het
Pum1	C	A	4: 130,396,581 (GRCm39)	T112K	possibly damaging	Het
Rasgrp2	T	A	19: 6,454,425 (GRCm39)	M156K	probably benign	Het
Reln	T	A	5: 22,223,998 (GRCm39)	E917V	probably damaging	Het
Rfc4	A	T	16: 22,943,314 (GRCm39)	V61E	probably damaging	Het
Rnf112	C	T	11: 61,341,854 (GRCm39)	V317I	possibly damaging	Het
Rpe	T	C	1: 66,754,387 (GRCm39)	M153T	probably damaging	Het
Rtn4ip1	A	G	10: 43,811,993 (GRCm39)		probably null	Het
Sap18	T	A	14: 58,036,011 (GRCm39)	S66T	probably damaging	Het
Scamp5	C	A	9: 57,354,508 (GRCm39)	V49F	possibly damaging	Het
Serhl	A	G	15: 82,999,776 (GRCm39)	Q252R	probably benign	Het
Sestd1	T	C	2: 77,042,867 (GRCm39)	D229G	probably benign	Het
Slc35g1	T	C	19: 38,391,735 (GRCm39)	V339A	probably benign	Het
Slc9b2	T	A	3: 135,034,743 (GRCm39)		probably null	Het
Stk40	C	T	4: 126,022,640 (GRCm39)	T138I	probably benign	Het
Syt10	C	T	15: 89,674,979 (GRCm39)	D456N	probably damaging	Het
Tep1	T	G	14: 51,076,443 (GRCm39)	K1664Q	probably benign	Het
Tmod2	T	C	9: 75,493,377 (GRCm39)	K193E	possibly damaging	Het
Trak1	T	A	9: 121,302,063 (GRCm39)	*940R	probably null	Het
Ttc5	A	T	14: 51,012,822 (GRCm39)	Y189N	probably damaging	Het
Ugt2a3	A	T	5: 87,484,430 (GRCm39)	M198K	probably damaging	Het
Uox	A	G	3: 146,318,297 (GRCm39)	H66R	probably benign	Het
Usp9y	A	T	Y: 1,303,451 (GRCm39)	D2487E	probably benign	Het
Vnn3	G	A	10: 23,740,311 (GRCm39)	G205R	probably damaging	Het
Vps11	T	C	9: 44,260,294 (GRCm39)	D856G	probably benign	Het
Zdhhc17	T	C	10: 110,817,909 (GRCm39)	N90D	possibly damaging	Het
Zfp105	T	A	9: 122,758,743 (GRCm39)	L138*	probably null	Het
Zfp28	A	G	7: 6,397,875 (GRCm39)	Y770C	probably benign	Het
Zfp655	T	A	5: 145,181,594 (GRCm39)	L484Q	probably damaging	Het
Zfp868	C	A	8: 70,064,646 (GRCm39)	E230*	probably null	Het
Zfpm2	A	G	15: 40,966,419 (GRCm39)	Y836C	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
IGL02216:Adamts12	APN	15	11,241,571 (GRCm39)	missense	possibly damaging	0.63
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
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

Predicted Primers

PCR Primer
(F):5'- AGCCTTCGGTTTGACTGTATC -3'
(R):5'- TGTGCTCATAGACTCAGGCAC -3'

Sequencing Primer
(F):5'- CAGATTGGTTCTGGGCCC -3'
(R):5'- CACTGTGGGTGTGGACAG -3'

Posted On

2014-09-18