Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00229:Adamts12'

2134

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: 0.087) question?

Stock #

IGL00229

Quality Score

Status

Chromosome

Chromosomal Location

11064876-11349317 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 11311685 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1314 (M1314K)

Ref Sequence

ENSEMBL: ENSMUSP00000057796 (fasta)

Gene Model

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

AlphaFold

Q811B3

Predicted Effect

probably benign
Transcript: ENSMUST00000061318
AA Change: M1314K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000057796
Gene: ENSMUSG00000047497
AA Change: M1314K

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	G	3: 121,964,603 (GRCm39)	T929A	probably damaging	Het
Adam6b	G	A	12: 113,455,013 (GRCm39)	R610H	probably damaging	Het
Alg6	T	A	4: 99,641,291 (GRCm39)	F152I	probably damaging	Het
Aopep	A	G	13: 63,347,314 (GRCm39)		probably benign	Het
Arid5b	A	G	10: 67,964,805 (GRCm39)	S289P	probably damaging	Het
Axin1	T	C	17: 26,413,046 (GRCm39)	F780L	probably damaging	Het
C9	C	T	15: 6,512,712 (GRCm39)	S278L	possibly damaging	Het
Calr4	A	T	4: 109,101,312 (GRCm39)	I65F	probably damaging	Het
Cdh23	A	G	10: 60,359,327 (GRCm39)	V260A	probably benign	Het
Ddx25	T	C	9: 35,454,891 (GRCm39)		probably benign	Het
Dppa4	A	G	16: 48,111,446 (GRCm39)	T92A	possibly damaging	Het
Ercc5	T	C	1: 44,203,058 (GRCm39)	Y232H	probably damaging	Het
Exoc4	A	G	6: 33,895,334 (GRCm39)		probably null	Het
Fam149a	A	G	8: 45,804,823 (GRCm39)	V253A	probably damaging	Het
Fam209	C	T	2: 172,316,102 (GRCm39)	T159I	probably damaging	Het
Gcfc2	A	T	6: 81,912,996 (GRCm39)	N265I	probably damaging	Het
Glud1	T	C	14: 34,058,087 (GRCm39)	V366A	probably benign	Het
Hdac10	T	C	15: 89,012,645 (GRCm39)	T3A	probably damaging	Het
Ifnar1	T	C	16: 91,286,670 (GRCm39)	S54P	probably damaging	Het
Itpr2	T	C	6: 146,045,683 (GRCm39)	Y2561C	probably damaging	Het
Klhl30	A	G	1: 91,281,879 (GRCm39)	E160G	possibly damaging	Het
Kmt2d	A	T	15: 98,760,214 (GRCm39)	S1015T	unknown	Het
Lactb2	A	G	1: 13,730,598 (GRCm39)	M26T	probably damaging	Het
Lactbl1	A	T	4: 136,358,362 (GRCm39)	D111V	probably damaging	Het
Lig4	T	C	8: 10,022,775 (GRCm39)	Y335C	probably damaging	Het
Lrrc8e	T	A	8: 4,285,921 (GRCm39)	D715E	probably benign	Het
Med6	A	T	12: 81,626,348 (GRCm39)	V142D	possibly damaging	Het
Men1	G	A	19: 6,387,237 (GRCm39)		probably null	Het
Mettl13	A	G	1: 162,363,434 (GRCm39)	V600A	possibly damaging	Het
Mpdz	A	T	4: 81,228,461 (GRCm39)	C1314*	probably null	Het
Nbeal2	A	G	9: 110,464,937 (GRCm39)	V1009A	probably damaging	Het
Nmur2	A	G	11: 55,931,603 (GRCm39)	L36P	probably damaging	Het
Nudt2	T	A	4: 41,480,474 (GRCm39)	L119Q	probably damaging	Het
Or5b117	T	C	19: 13,431,204 (GRCm39)	M226V	possibly damaging	Het
Osbpl3	C	T	6: 50,300,048 (GRCm39)	E519K	probably damaging	Het
Pak6	A	T	2: 118,520,326 (GRCm39)	T106S	possibly damaging	Het
Pggt1b	T	G	18: 46,413,786 (GRCm39)	Q34P	probably benign	Het
Phactr4	T	C	4: 132,098,303 (GRCm39)	T322A	possibly damaging	Het
Plekhj1	T	C	10: 80,632,436 (GRCm39)		probably null	Het
Pnpt1	T	C	11: 29,104,217 (GRCm39)		probably null	Het
Pramel32	A	G	4: 88,547,290 (GRCm39)	I214T	probably damaging	Het
Prr14l	T	C	5: 32,988,020 (GRCm39)	I492V	probably benign	Het
Ranbp2	C	A	10: 58,313,078 (GRCm39)	A1266E	probably damaging	Het
Riok3	G	A	18: 12,270,077 (GRCm39)	D140N	probably damaging	Het
Rsph4a	G	A	10: 33,790,339 (GRCm39)	E643K	probably damaging	Het
Scara3	T	G	14: 66,170,570 (GRCm39)	E103A	probably benign	Het
Sgk3	T	C	1: 9,938,609 (GRCm39)	V33A	probably damaging	Het
Slc38a4	A	G	15: 96,897,375 (GRCm39)	F480S	probably damaging	Het
Slc44a1	G	A	4: 53,543,571 (GRCm39)	V372M	probably damaging	Het
Slc9a2	A	G	1: 40,806,897 (GRCm39)	Y728C	probably benign	Het
Sox4	C	A	13: 29,136,956 (GRCm39)	G17W	probably damaging	Het
Spidr	A	T	16: 15,713,442 (GRCm39)	L847Q	probably damaging	Het
Sptb	A	G	12: 76,667,527 (GRCm39)	S857P	probably benign	Het
Syde1	A	G	10: 78,421,643 (GRCm39)	V636A	probably damaging	Het
Syna	A	G	5: 134,588,571 (GRCm39)	L126P	possibly damaging	Het
Taar2	A	G	10: 23,817,266 (GRCm39)	T269A	possibly damaging	Het
Tapbp	C	T	17: 34,144,678 (GRCm39)	T258I	probably damaging	Het
Tcf20	T	A	15: 82,741,343 (GRCm39)	Q36L	possibly damaging	Het
Tmem131l	A	T	3: 83,849,807 (GRCm39)	M260K	probably damaging	Het
Tnc	T	A	4: 63,935,061 (GRCm39)		probably benign	Het
Ugp2	T	A	11: 21,304,345 (GRCm39)	E27D	probably benign	Het
Vps35l	T	A	7: 118,403,414 (GRCm39)		probably benign	Het
Wdr27	A	T	17: 15,148,572 (GRCm39)	C140*	probably null	Het
Wnt2b	T	C	3: 104,860,449 (GRCm39)	T153A	possibly damaging	Het
Xirp2	A	T	2: 67,343,719 (GRCm39)	T1987S	probably benign	Het
Zfp36l1	C	A	12: 80,157,238 (GRCm39)	G48C	probably damaging	Het
Zfp474	A	T	18: 52,771,565 (GRCm39)	I73F	possibly damaging	Het
Zfp790	T	A	7: 29,527,988 (GRCm39)	F224L	probably benign	Het

Other mutations in Adamts12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2011-12-09