Mutagenetix > Incidental Mutation

Incidental Mutation 'R6331:Adamts12'

510938

Institutional Source

Beutler Lab

Gene Symbol

Adamts12

Ensembl Gene

ENSMUSG00000047497

Gene Name

ADAM metallopeptidase with thrombospondin type 1 motif 12

Synonyms

MMRRC Submission

044485-MU

Accession Numbers

Essential gene?

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

Stock #

R6331 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

11064876-11349317 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 11241519 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 364 (T364A)

Ref Sequence

ENSEMBL: ENSMUSP00000057796 (fasta)

Gene Model

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

AlphaFold

Q811B3

Predicted Effect

probably damaging
Transcript: ENSMUST00000061318
AA Change: T364A

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

SMART Domains

Protein: ENSMUSP00000057796
Gene: ENSMUSG00000047497
AA Change: T364A

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

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.8%

Validation Efficiency

100% (66/66)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	C	6: 128,529,199 (GRCm39)	D981G	probably damaging	Het
Abcc1	C	A	16: 14,282,920 (GRCm39)	A1132D	probably damaging	Het
Ahnak	A	T	19: 8,983,989 (GRCm39)	M1758L	probably benign	Het
Ak9	T	C	10: 41,258,825 (GRCm39)	V774A	probably damaging	Het
Ash1l	A	G	3: 88,915,172 (GRCm39)	E1934G	probably benign	Het
Atp2b2	C	T	6: 113,774,092 (GRCm39)	A341T	probably benign	Het
Bach2	G	T	4: 32,238,816 (GRCm39)		probably benign	Het
Bltp3a	T	C	17: 28,112,175 (GRCm39)	I1150T	probably benign	Het
Brd10	C	T	19: 29,695,147 (GRCm39)	V1449I	probably benign	Het
Ccdc102a	T	C	8: 95,638,144 (GRCm39)	T241A	probably benign	Het
Chd5	G	T	4: 152,466,865 (GRCm39)	R1627S	probably benign	Het
Clint1	T	C	11: 45,785,908 (GRCm39)	S322P	probably benign	Het
Dapk1	T	A	13: 60,877,256 (GRCm39)	C498*	probably null	Het
Diaph3	T	G	14: 87,103,976 (GRCm39)	S803R	probably damaging	Het
Dmp1	T	C	5: 104,354,991 (GRCm39)	L10P	probably damaging	Het
Gcc2	T	C	10: 58,107,287 (GRCm39)	V741A	probably benign	Het
Gldn	A	G	9: 54,194,162 (GRCm39)	M119V	probably benign	Het
Gucy1b1	A	G	3: 81,941,718 (GRCm39)	S574P	possibly damaging	Het
Hapln4	T	A	8: 70,537,073 (GRCm39)		probably benign	Het
Hars1	A	G	18: 36,904,385 (GRCm39)	V209A	probably benign	Het
Htt	T	A	5: 35,053,231 (GRCm39)	F2521L	possibly damaging	Het
Kif14	A	G	1: 136,443,724 (GRCm39)	D1299G	probably null	Het
Krt25	T	A	11: 99,208,253 (GRCm39)	E325V	probably damaging	Het
Lcmt1	T	C	7: 122,977,405 (GRCm39)		probably benign	Het
Lrp1b	A	T	2: 40,693,221 (GRCm39)	N3266K	probably damaging	Het
Mctp1	T	A	13: 77,168,982 (GRCm39)		probably null	Het
Mtarc2	A	G	1: 184,551,525 (GRCm39)	S304P	probably damaging	Het
Myo5b	G	A	18: 74,750,064 (GRCm39)	A176T	probably damaging	Het
Myom3	A	G	4: 135,503,688 (GRCm39)	N379S	possibly damaging	Het
Nbea	A	T	3: 55,908,037 (GRCm39)	D1358E	possibly damaging	Het
Nod1	T	C	6: 54,901,968 (GRCm39)	E939G	probably damaging	Het
Obox1	A	G	7: 15,289,294 (GRCm39)	R70G	probably benign	Het
Or13c25	A	G	4: 52,911,399 (GRCm39)	Y132H	probably damaging	Het
Or13p3	A	G	4: 118,567,144 (GRCm39)	E180G	probably benign	Het
Or4a2	C	T	2: 89,248,695 (GRCm39)	G21S	probably benign	Het
Or5m12	T	C	2: 85,734,560 (GRCm39)	I279M	probably benign	Het
Otof	T	C	5: 30,529,279 (GRCm39)	D1745G	possibly damaging	Het
Pklr	A	G	3: 89,044,662 (GRCm39)	I47V	probably damaging	Het
Pms2	T	A	5: 143,851,451 (GRCm39)	S123T	possibly damaging	Het
Pnpla2	T	C	7: 141,039,198 (GRCm39)	S337P	probably damaging	Het
Ptgfrn	A	C	3: 100,952,936 (GRCm39)	V766G	possibly damaging	Het
Ptpn11	T	A	5: 121,282,716 (GRCm39)	H419L	probably damaging	Het
Rims3	T	A	4: 120,740,350 (GRCm39)	V99E	probably damaging	Het
Rmc1	G	A	18: 12,313,571 (GRCm39)	R228H	probably damaging	Het
Samd9l	A	G	6: 3,376,361 (GRCm39)	V300A	probably damaging	Het
Sdad1	T	C	5: 92,451,789 (GRCm39)	D144G	probably damaging	Het
Siglecg	T	C	7: 43,058,178 (GRCm39)	Y22H	possibly damaging	Het
Slc39a1	A	G	3: 90,159,588 (GRCm39)	K305R	possibly damaging	Het
Slc5a4a	A	G	10: 76,014,034 (GRCm39)	R414G	probably damaging	Het
Smg1	T	C	7: 117,753,500 (GRCm39)		probably benign	Het
Tbc1d9b	C	T	11: 50,022,324 (GRCm39)	A20V	possibly damaging	Het
Tgfb3	G	T	12: 86,110,638 (GRCm39)	D237E	probably benign	Het
Tle6	A	G	10: 81,431,073 (GRCm39)	S234P	probably benign	Het
Tnrc6b	A	G	15: 80,763,815 (GRCm39)	N439S	probably benign	Het
Trim33	T	C	3: 103,248,925 (GRCm39)	S783P	probably benign	Het
Ttn	A	T	2: 76,632,698 (GRCm39)	Y12373N	probably damaging	Het
Tube1	G	A	10: 39,010,097 (GRCm39)	V7I	probably benign	Het
Tufm	T	C	7: 126,088,410 (GRCm39)	V265A	probably benign	Het
Usp32	T	C	11: 84,877,402 (GRCm39)	H1550R	possibly damaging	Het
Usp33	A	T	3: 152,081,887 (GRCm39)	M546L	probably damaging	Het
Uspl1	C	A	5: 149,151,097 (GRCm39)	Q752K	probably benign	Het
Vmn1r20	A	G	6: 57,408,655 (GRCm39)		probably null	Het
Vmn1r201	T	C	13: 22,659,521 (GRCm39)	F245S	probably damaging	Het
Vmn2r3	A	G	3: 64,186,182 (GRCm39)	S168P	probably damaging	Het
Wdr24	T	G	17: 26,044,650 (GRCm39)	D168E	possibly damaging	Het
Zfp646	C	T	7: 127,482,853 (GRCm39)	P1677S	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
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
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'- GCTGATTCCTGATTCCATATGGAC -3'
(R):5'- TATGCCGAACTCAATCCTCTGAC -3'

Sequencing Primer
(F):5'- TCCTGATTCCATATGGACTTTATTTC -3'
(R):5'- TCAATCCTCTGACACTCAGTTTAAAC -3'

Posted On

2018-04-02