Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03161:Adamts12'

411414

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

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

IGL03161

Quality Score

Status

Chromosome

Chromosomal Location

11064790-11349231 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 11292082 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 871 (E871G)

Ref Sequence

ENSEMBL: ENSMUSP00000057796 (fasta)

Gene Model

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

AlphaFold

Q811B3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000061318
AA Change: E871G

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000057796
Gene: ENSMUSG00000047497
AA Change: E871G

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210010C04Rik	A	T	6: 41,034,306	H47Q	probably damaging	Het
4930579G24Rik	T	C	3: 79,629,186		probably benign	Het
Abtb2	G	T	2: 103,567,454	R243L	probably benign	Het
Ascc3	A	T	10: 50,618,072	N201I	probably damaging	Het
Aste1	A	T	9: 105,396,672	H37L	probably damaging	Het
Atp1a2	T	A	1: 172,278,862		probably benign	Het
Cand2	C	A	6: 115,792,737	T836K	probably benign	Het
Ccdc151	A	G	9: 22,002,315	S54P	probably benign	Het
Dnah7c	G	A	1: 46,467,296	A178T	probably benign	Het
Dnm2	A	G	9: 21,485,724		probably benign	Het
Dock3	T	C	9: 107,023,788	D326G	probably damaging	Het
Fignl1	A	C	11: 11,802,680	M125R	probably benign	Het
Gabarapl2	T	A	8: 111,942,536	V42D	probably benign	Het
Hivep2	T	C	10: 14,143,356	V1957A	probably damaging	Het
Hps1	T	C	19: 42,767,271	E172G	probably damaging	Het
Il16	T	C	7: 83,722,499	D33G	probably damaging	Het
Lamb1	A	G	12: 31,326,256	N1542D	probably benign	Het
Mllt6	T	C	11: 97,667,151	Y179H	probably benign	Het
Muc4	T	C	16: 32,751,948	S609P	possibly damaging	Het
Nacad	G	A	11: 6,600,378	Q938*	probably null	Het
Olfr1184	G	A	2: 88,487,448	A239T	probably benign	Het
Olfr1295	T	C	2: 111,565,331	I38V	possibly damaging	Het
Pik3c3	C	T	18: 30,293,707	T292I	probably benign	Het
Slit3	T	C	11: 35,700,414	V1351A	probably benign	Het
Spg7	T	C	8: 123,087,331	M443T	probably damaging	Het
Tcof1	A	G	18: 60,833,488	S344P	possibly damaging	Het
Tex37	T	C	6: 70,913,535	E91G	probably benign	Het
Tm4sf5	T	A	11: 70,510,272	S105T	probably benign	Het
Tmem119	A	G	5: 113,794,900	V280A	possibly damaging	Het
Trbv20	A	T	6: 41,188,823	I61L	probably benign	Het
Trip12	T	C	1: 84,761,132		probably benign	Het
Vmn1r32	T	A	6: 66,553,220	M191L	possibly damaging	Het
Vta1	A	T	10: 14,667,972	H219Q	possibly damaging	Het

Other mutations in Adamts12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00229:Adamts12	APN	15	11,311,599 (GRCm38)	missense	probably benign	0.00
IGL00513:Adamts12	APN	15	11,256,961 (GRCm38)	missense	probably benign	0.28
IGL00579:Adamts12	APN	15	11,152,014 (GRCm38)	missense	probably benign	0.20
IGL00984:Adamts12	APN	15	11,215,610 (GRCm38)	missense	probably benign	0.01
IGL01307:Adamts12	APN	15	11,237,546 (GRCm38)	missense	possibly damaging	0.88
IGL01314:Adamts12	APN	15	11,071,853 (GRCm38)	missense	probably benign	0.30
IGL01353:Adamts12	APN	15	11,292,005 (GRCm38)	splice site	probably benign
IGL01373:Adamts12	APN	15	11,310,730 (GRCm38)	missense	probably benign	0.00
IGL01522:Adamts12	APN	15	11,065,159 (GRCm38)	critical splice donor site	probably null
IGL01589:Adamts12	APN	15	11,311,237 (GRCm38)	missense	probably benign	0.26
IGL01715:Adamts12	APN	15	11,258,096 (GRCm38)	missense	possibly damaging	0.47
IGL01966:Adamts12	APN	15	11,258,183 (GRCm38)	missense	probably damaging	0.98
IGL01994:Adamts12	APN	15	11,345,594 (GRCm38)	missense	probably damaging	1.00
IGL02058:Adamts12	APN	15	11,215,610 (GRCm38)	missense	probably benign	0.01
IGL02216:Adamts12	APN	15	11,241,485 (GRCm38)	missense	possibly damaging	0.63
IGL02252:Adamts12	APN	15	11,311,015 (GRCm38)	missense	probably benign	0.01
IGL02336:Adamts12	APN	15	11,311,245 (GRCm38)	missense	probably benign	0.02
IGL02445:Adamts12	APN	15	11,286,712 (GRCm38)	missense	probably damaging	1.00
IGL03115:Adamts12	APN	15	11,263,336 (GRCm38)	missense	probably damaging	1.00
IGL03131:Adamts12	APN	15	11,345,564 (GRCm38)	missense	probably damaging	1.00
IGL03403:Adamts12	APN	15	11,241,488 (GRCm38)	missense	probably damaging	1.00
I2289:Adamts12	UTSW	15	11,071,808 (GRCm38)	missense	probably benign	0.13
PIT4677001:Adamts12	UTSW	15	11,286,810 (GRCm38)	missense	probably benign	0.33
R0016:Adamts12	UTSW	15	11,217,829 (GRCm38)	missense	probably damaging	1.00
R0016:Adamts12	UTSW	15	11,217,829 (GRCm38)	missense	probably damaging	1.00
R0027:Adamts12	UTSW	15	11,285,873 (GRCm38)	missense	probably damaging	0.99
R0027:Adamts12	UTSW	15	11,285,873 (GRCm38)	missense	probably damaging	0.99
R0028:Adamts12	UTSW	15	11,215,624 (GRCm38)	missense	probably damaging	1.00
R0108:Adamts12	UTSW	15	11,311,098 (GRCm38)	missense	probably benign	0.08
R0108:Adamts12	UTSW	15	11,311,098 (GRCm38)	missense	probably benign	0.08
R0122:Adamts12	UTSW	15	11,215,624 (GRCm38)	missense	probably damaging	1.00
R0196:Adamts12	UTSW	15	11,071,508 (GRCm38)	missense	probably benign	0.11
R0308:Adamts12	UTSW	15	11,311,560 (GRCm38)	missense	probably damaging	0.98
R0335:Adamts12	UTSW	15	11,311,058 (GRCm38)	missense	possibly damaging	0.95
R0667:Adamts12	UTSW	15	11,215,624 (GRCm38)	missense	probably damaging	1.00
R0729:Adamts12	UTSW	15	11,255,683 (GRCm38)	missense	possibly damaging	0.91
R1162:Adamts12	UTSW	15	11,277,458 (GRCm38)	critical splice donor site	probably null
R1173:Adamts12	UTSW	15	11,071,757 (GRCm38)	missense	probably benign
R1174:Adamts12	UTSW	15	11,071,757 (GRCm38)	missense	probably benign
R1319:Adamts12	UTSW	15	11,286,791 (GRCm38)	missense	probably benign	0.02
R1344:Adamts12	UTSW	15	11,286,804 (GRCm38)	missense	probably damaging	1.00
R1367:Adamts12	UTSW	15	11,256,894 (GRCm38)	splice site	probably benign
R1396:Adamts12	UTSW	15	11,311,472 (GRCm38)	missense	probably benign	0.01
R1418:Adamts12	UTSW	15	11,286,804 (GRCm38)	missense	probably damaging	1.00
R1447:Adamts12	UTSW	15	11,263,361 (GRCm38)	missense	probably benign	0.42
R1466:Adamts12	UTSW	15	11,311,359 (GRCm38)	missense	probably benign
R1466:Adamts12	UTSW	15	11,311,359 (GRCm38)	missense	probably benign
R1599:Adamts12	UTSW	15	11,071,711 (GRCm38)	missense	probably damaging	0.99
R1700:Adamts12	UTSW	15	11,152,057 (GRCm38)	missense	probably benign	0.00
R1748:Adamts12	UTSW	15	11,241,462 (GRCm38)	missense	probably damaging	0.99
R1826:Adamts12	UTSW	15	11,071,520 (GRCm38)	missense	probably benign	0.06
R1870:Adamts12	UTSW	15	11,311,154 (GRCm38)	missense	probably benign	0.06
R1871:Adamts12	UTSW	15	11,311,154 (GRCm38)	missense	probably benign	0.06
R1872:Adamts12	UTSW	15	11,217,880 (GRCm38)	nonsense	probably null
R1931:Adamts12	UTSW	15	11,270,599 (GRCm38)	missense	probably benign	0.00
R2041:Adamts12	UTSW	15	11,215,735 (GRCm38)	missense	probably damaging	1.00
R2119:Adamts12	UTSW	15	11,310,579 (GRCm38)	missense	probably damaging	1.00
R2120:Adamts12	UTSW	15	11,310,579 (GRCm38)	missense	probably damaging	1.00
R2122:Adamts12	UTSW	15	11,310,579 (GRCm38)	missense	probably damaging	1.00
R2161:Adamts12	UTSW	15	11,215,735 (GRCm38)	missense	probably damaging	0.99
R2655:Adamts12	UTSW	15	11,065,088 (GRCm38)	missense	possibly damaging	0.50
R4010:Adamts12	UTSW	15	11,286,083 (GRCm38)	missense	possibly damaging	0.69
R4208:Adamts12	UTSW	15	11,071,754 (GRCm38)	missense	probably benign
R4666:Adamts12	UTSW	15	11,311,492 (GRCm38)	missense	probably benign	0.08
R4731:Adamts12	UTSW	15	11,270,662 (GRCm38)	missense	probably damaging	1.00
R4732:Adamts12	UTSW	15	11,270,662 (GRCm38)	missense	probably damaging	1.00
R4733:Adamts12	UTSW	15	11,270,662 (GRCm38)	missense	probably damaging	1.00
R4766:Adamts12	UTSW	15	11,285,901 (GRCm38)	missense	probably benign	0.03
R4877:Adamts12	UTSW	15	11,327,701 (GRCm38)	missense	probably damaging	1.00
R4929:Adamts12	UTSW	15	11,259,022 (GRCm38)	missense	probably damaging	0.96
R5060:Adamts12	UTSW	15	11,299,968 (GRCm38)	missense	probably damaging	1.00
R5145:Adamts12	UTSW	15	11,285,876 (GRCm38)	missense	probably damaging	1.00
R5191:Adamts12	UTSW	15	11,327,757 (GRCm38)	missense	probably benign	0.18
R5492:Adamts12	UTSW	15	11,336,298 (GRCm38)	missense	probably benign	0.05
R5580:Adamts12	UTSW	15	11,152,000 (GRCm38)	missense	probably benign	0.14
R5645:Adamts12	UTSW	15	11,277,420 (GRCm38)	missense	possibly damaging	0.92
R5724:Adamts12	UTSW	15	11,286,750 (GRCm38)	missense	probably benign	0.15
R6240:Adamts12	UTSW	15	11,285,958 (GRCm38)	missense	probably benign	0.44
R6331:Adamts12	UTSW	15	11,241,433 (GRCm38)	missense	probably damaging	1.00
R6381:Adamts12	UTSW	15	11,256,994 (GRCm38)	missense	possibly damaging	0.93
R6393:Adamts12	UTSW	15	11,255,635 (GRCm38)	missense	probably damaging	0.97
R6419:Adamts12	UTSW	15	11,215,673 (GRCm38)	missense	possibly damaging	0.72
R6571:Adamts12	UTSW	15	11,065,101 (GRCm38)	missense	probably benign	0.00
R6821:Adamts12	UTSW	15	11,152,048 (GRCm38)	missense	probably benign	0.14
R6913:Adamts12	UTSW	15	11,215,692 (GRCm38)	missense	probably damaging	1.00
R6973:Adamts12	UTSW	15	11,331,780 (GRCm38)	nonsense	probably null
R7188:Adamts12	UTSW	15	11,336,325 (GRCm38)	nonsense	probably null
R7290:Adamts12	UTSW	15	11,277,366 (GRCm38)	missense	probably benign	0.08
R7307:Adamts12	UTSW	15	11,217,813 (GRCm38)	missense	probably damaging	1.00
R7376:Adamts12	UTSW	15	11,277,339 (GRCm38)	missense	possibly damaging	0.69
R7419:Adamts12	UTSW	15	11,317,279 (GRCm38)	missense	probably benign	0.00
R7484:Adamts12	UTSW	15	11,345,648 (GRCm38)	missense	probably benign	0.25
R7562:Adamts12	UTSW	15	11,270,611 (GRCm38)	missense	probably benign	0.01
R7653:Adamts12	UTSW	15	11,257,029 (GRCm38)	missense	probably benign	0.28
R7696:Adamts12	UTSW	15	11,258,138 (GRCm38)	missense	probably damaging	1.00
R7957:Adamts12	UTSW	15	11,317,212 (GRCm38)	missense	possibly damaging	0.96
R7980:Adamts12	UTSW	15	11,263,337 (GRCm38)	missense	probably damaging	1.00
R7992:Adamts12	UTSW	15	11,310,818 (GRCm38)	missense	probably benign
R8032:Adamts12	UTSW	15	11,259,103 (GRCm38)	critical splice donor site	probably null
R8109:Adamts12	UTSW	15	11,331,791 (GRCm38)	missense	probably benign	0.02
R8402:Adamts12	UTSW	15	11,263,290 (GRCm38)	missense	probably damaging	0.96
R8751:Adamts12	UTSW	15	11,215,727 (GRCm38)	missense	probably damaging	1.00
R8782:Adamts12	UTSW	15	11,237,592 (GRCm38)	missense	probably damaging	1.00
R8934:Adamts12	UTSW	15	11,299,929 (GRCm38)	missense	probably damaging	0.99
R8952:Adamts12	UTSW	15	11,285,979 (GRCm38)	missense	probably damaging	1.00
R8963:Adamts12	UTSW	15	11,317,357 (GRCm38)	critical splice donor site	probably null
R9042:Adamts12	UTSW	15	11,152,048 (GRCm38)	missense	probably benign	0.08
R9162:Adamts12	UTSW	15	11,311,635 (GRCm38)	missense	probably benign	0.29
R9190:Adamts12	UTSW	15	11,336,360 (GRCm38)	missense	probably benign	0.02
R9700:Adamts12	UTSW	15	11,311,356 (GRCm38)	missense	probably benign	0.04
R9748:Adamts12	UTSW	15	11,310,542 (GRCm38)	missense	probably damaging	0.99
V1662:Adamts12	UTSW	15	11,071,808 (GRCm38)	missense	probably benign	0.13
X0022:Adamts12	UTSW	15	11,277,448 (GRCm38)	missense	probably benign	0.30
Z1176:Adamts12	UTSW	15	11,336,383 (GRCm38)	missense	not run
Z1177:Adamts12	UTSW	15	11,336,383 (GRCm38)	missense	not run
Z1177:Adamts12	UTSW	15	11,317,324 (GRCm38)	missense	probably damaging	1.00

Posted On

2016-08-02