Mutagenetix > Incidental Mutation

Incidental Mutation 'R2146:Adamts18'

233837

Institutional Source

Beutler Lab

Gene Symbol

Adamts18

Ensembl Gene

ENSMUSG00000053399

Gene Name

ADAM metallopeptidase with thrombospondin type 1 motif 18

Synonyms

E130314N14Rik

MMRRC Submission

040149-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.131) question?

Stock #

R2146 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

114423758-114575370 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 114571635 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glycine at position 116 (A116G)

Ref Sequence

ENSEMBL: ENSMUSP00000090801 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093113] [ENSMUST00000212665]

AlphaFold

Q4VC17

Predicted Effect

possibly damaging
Transcript: ENSMUST00000093113
AA Change: A116G

PolyPhen 2 Score 0.577 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000090801
Gene: ENSMUSG00000053399
AA Change: A116G

Domain	Start	End	E-Value	Type
signal peptide	1	47	N/A	INTRINSIC
Pfam:Pep_M12B_propep	63	203	3.4e-37	PFAM
Pfam:Reprolysin_5	292	473	1.3e-14	PFAM
Pfam:Reprolysin_4	294	494	2.6e-11	PFAM
Pfam:Reprolysin	294	498	2.7e-30	PFAM
Pfam:Reprolysin_2	311	488	1.7e-14	PFAM
Pfam:Reprolysin_3	315	447	1.5e-11	PFAM
TSP1	592	644	7.37e-17	SMART
Pfam:ADAM_spacer1	749	861	1.7e-38	PFAM
TSP1	878	932	1.55e-1	SMART
TSP1	934	992	5.07e-6	SMART
TSP1	994	1049	1.65e-5	SMART
TSP1	1055	1116	1.71e-3	SMART
TSP1	1125	1171	5.27e-4	SMART
Pfam:PLAC	1186	1216	1.2e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000212437

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212527

Predicted Effect

probably benign
Transcript: ENSMUST00000212665

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213061

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213078

Meta Mutation Damage Score

0.0698

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

99% (84/85)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature protein, which may regulate hemostatic balance and function as a tumor suppressor. Mutations in this gene may be associated with microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) and cone-rod dystrophy in human patients. [provided by RefSeq, May 2016]
PHENOTYPE: Mice homozygous for a floxed allele exhibit some fertility defects. Mice homozygous for a null allele exhibit growth and eye defects and increased susceptibility to chemically induced tumors. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013D24Rik	A	T	6: 124,324,803 (GRCm39)		probably null	Het
9530002B09Rik	T	A	4: 122,583,198 (GRCm39)	C13*	probably null	Het
Abca12	C	A	1: 71,302,647 (GRCm39)	V2191L	probably benign	Het
Anxa2	TCCC	TCC	9: 69,397,036 (GRCm39)		probably null	Het
Arfgef1	C	T	1: 10,270,103 (GRCm39)	A349T	probably benign	Het
Arhgap6	A	G	X: 167,579,496 (GRCm39)	T94A	probably benign	Het
Arhgef5	T	C	6: 43,260,252 (GRCm39)	S1413P	probably damaging	Het
Atg4c	C	A	4: 99,109,463 (GRCm39)	N143K	possibly damaging	Het
C1qtnf12	A	G	4: 156,050,922 (GRCm39)	N297S	probably benign	Het
Cadps2	G	T	6: 23,838,998 (GRCm39)		probably benign	Het
Ccdc185	G	T	1: 182,575,085 (GRCm39)	H535N	possibly damaging	Het
Ccdc57	A	G	11: 120,776,051 (GRCm39)		probably benign	Het
Cd163	A	G	6: 124,286,167 (GRCm39)	H239R	probably damaging	Het
Ceacam2	G	T	7: 25,227,368 (GRCm39)	C166*	probably null	Het
Ces5a	T	A	8: 94,261,327 (GRCm39)	E33D	probably benign	Het
Chl1	T	C	6: 103,692,362 (GRCm39)		probably null	Het
Chsy3	G	A	18: 59,309,544 (GRCm39)	V266I	probably benign	Het
Cpa5	G	T	6: 30,626,821 (GRCm39)	R251L	probably damaging	Het
Cps1	A	C	1: 67,191,538 (GRCm39)		probably benign	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,604,632 (GRCm39)		probably null	Het
Cstf1	T	C	2: 172,217,683 (GRCm39)	Y99H	probably damaging	Het
Cyp2j11	G	A	4: 96,204,595 (GRCm39)	T317I	probably damaging	Het
Dcaf8l	T	C	X: 88,449,883 (GRCm39)	D82G	possibly damaging	Het
Dennd3	C	T	15: 73,395,345 (GRCm39)	T146M	probably damaging	Het
Dennd3	A	T	15: 73,426,909 (GRCm39)	H762L	probably benign	Het
Dnah2	T	C	11: 69,406,587 (GRCm39)	M552V	probably benign	Het
Dnajc22	T	C	15: 99,002,264 (GRCm39)	V303A	probably benign	Het
Dtx2	T	G	5: 136,059,464 (GRCm39)	L458R	probably benign	Het
Fat3	A	T	9: 15,901,808 (GRCm39)	F3072L	probably benign	Het
Fgf5	T	C	5: 98,423,409 (GRCm39)	*265R	probably null	Het
Fndc11	A	G	2: 180,863,918 (GRCm39)	E241G	probably damaging	Het
Glb1	T	C	9: 114,279,716 (GRCm39)	Y375H	probably damaging	Het
Gm4922	T	G	10: 18,659,264 (GRCm39)	Q486P	probably benign	Het
Gm5786	A	T	12: 59,128,084 (GRCm39)		noncoding transcript	Het
Hepacam2	A	T	6: 3,463,378 (GRCm39)		probably benign	Het
Ints9	G	A	14: 65,223,792 (GRCm39)	G89R	possibly damaging	Het
Iqcm	T	A	8: 76,615,241 (GRCm39)	W441R	probably damaging	Het
Itga10	T	C	3: 96,558,808 (GRCm39)	L382P	possibly damaging	Het
Itga10	G	T	3: 96,561,039 (GRCm39)	G635W	probably damaging	Het
Kbtbd2	A	G	6: 56,756,075 (GRCm39)	Y554H	probably damaging	Het
Kif1b	T	C	4: 149,268,766 (GRCm39)	K1649R	probably damaging	Het
L1cam	A	T	X: 72,904,747 (GRCm39)	F536Y	probably damaging	Het
Magee1	A	T	X: 104,166,564 (GRCm39)	D783V	probably damaging	Het
Marveld3	A	T	8: 110,686,434 (GRCm39)	V144E	probably benign	Het
Mcam	T	C	9: 44,047,932 (GRCm39)	V59A	probably damaging	Het
Mdga2	C	T	12: 66,915,515 (GRCm39)	E47K	probably damaging	Het
Metrn	T	A	17: 26,015,601 (GRCm39)	E38V	probably damaging	Het
Mfrp	T	C	9: 44,015,015 (GRCm39)	L314P	probably benign	Het
Mgat4f	T	A	1: 134,318,251 (GRCm39)	M341K	probably damaging	Het
Mideas	G	T	12: 84,219,809 (GRCm39)	P382T	probably damaging	Het
Mospd2	A	G	X: 163,739,473 (GRCm39)		probably null	Het
Mycbp2	G	A	14: 103,393,358 (GRCm39)	H3068Y	probably damaging	Het
Myh6	C	T	14: 55,191,228 (GRCm39)	R871H	probably damaging	Het
Nup214	C	T	2: 31,924,478 (GRCm39)	S1669F	probably damaging	Het
Or13c7b	A	G	4: 43,821,178 (GRCm39)	F61S	probably damaging	Het
Or5b111	T	C	19: 13,291,485 (GRCm39)	T55A	probably benign	Het
Or8i2	T	A	2: 86,852,009 (GRCm39)	N293I	probably damaging	Het
Parvb	A	G	15: 84,116,369 (GRCm39)	K33E	possibly damaging	Het
Pdcd11	A	G	19: 47,093,191 (GRCm39)	M490V	probably benign	Het
Pkd2	A	C	5: 104,603,456 (GRCm39)		probably benign	Het
Reps1	T	A	10: 17,969,061 (GRCm39)	D206E	probably benign	Het
Rimkla	T	A	4: 119,331,779 (GRCm39)	M140L	possibly damaging	Het
Rnf13	T	G	3: 57,709,907 (GRCm39)	I150S	probably null	Het
Rxfp4	C	T	3: 88,560,200 (GRCm39)	A84T	probably damaging	Het
Serpinb8	T	A	1: 107,533,657 (GRCm39)	D237E	probably benign	Het
Sgo2b	T	G	8: 64,381,057 (GRCm39)	T592P	probably benign	Het
Slc35d1	A	T	4: 103,062,349 (GRCm39)	I228N	probably damaging	Het
Slc39a1	T	G	3: 90,156,757 (GRCm39)	H104Q	probably benign	Het
Slc6a6	T	C	6: 91,712,161 (GRCm39)	V230A	probably benign	Het
Slc9a3	A	G	13: 74,269,722 (GRCm39)	E30G	probably benign	Het
Slc9c1	A	G	16: 45,413,827 (GRCm39)	Y985C	probably benign	Het
Supt6	A	G	11: 78,121,758 (GRCm39)	F298S	probably damaging	Het
Tada2a	T	C	11: 83,970,455 (GRCm39)	D432G	probably damaging	Het
Thoc2l	T	C	5: 104,666,857 (GRCm39)	F460L	probably benign	Het
Tmem131	C	A	1: 36,851,690 (GRCm39)	V938L	probably benign	Het
Tnpo3	A	G	6: 29,589,035 (GRCm39)	V105A	probably benign	Het
Ttc7	T	C	17: 87,654,135 (GRCm39)		probably benign	Het
Ttn	T	C	2: 76,727,532 (GRCm39)		probably benign	Het
Usp16	T	C	16: 87,270,075 (GRCm39)		probably null	Het
Usp36	A	G	11: 118,159,491 (GRCm39)	L486S	probably benign	Het
Uty	T	C	Y: 1,239,816 (GRCm39)	I72V	probably benign	Het
Vps51	A	G	19: 6,118,164 (GRCm39)	V777A	probably benign	Het
Zfp160	A	G	17: 21,247,244 (GRCm39)	K598R	probably benign	Het
Zfp39	T	C	11: 58,781,158 (GRCm39)	N535D	probably benign	Het
Zfp804a	A	G	2: 82,089,008 (GRCm39)	T946A	probably benign	Het

Other mutations in Adamts18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01290:Adamts18	APN	8	114,501,575 (GRCm39)	missense	probably damaging	1.00
IGL01548:Adamts18	APN	8	114,490,931 (GRCm39)	missense	probably damaging	1.00
IGL01556:Adamts18	APN	8	114,571,741 (GRCm39)	missense	probably benign	0.01
IGL01833:Adamts18	APN	8	114,469,728 (GRCm39)	missense	probably benign	0.10
IGL02187:Adamts18	APN	8	114,439,826 (GRCm39)	missense	possibly damaging	0.93
IGL02551:Adamts18	APN	8	114,425,704 (GRCm39)	missense	probably damaging	1.00
IGL02756:Adamts18	APN	8	114,440,976 (GRCm39)	splice site	probably benign
IGL03188:Adamts18	APN	8	114,425,656 (GRCm39)	missense	probably damaging	1.00
IGL03411:Adamts18	APN	8	114,490,929 (GRCm39)	nonsense	probably null
G1patch:Adamts18	UTSW	8	114,469,833 (GRCm39)	missense	probably damaging	1.00
R0119:Adamts18	UTSW	8	114,501,585 (GRCm39)	missense	possibly damaging	0.94
R0378:Adamts18	UTSW	8	114,469,749 (GRCm39)	missense	probably damaging	1.00
R0410:Adamts18	UTSW	8	114,440,990 (GRCm39)	nonsense	probably null
R0480:Adamts18	UTSW	8	114,465,450 (GRCm39)	missense	possibly damaging	0.93
R0514:Adamts18	UTSW	8	114,465,401 (GRCm39)	splice site	probably null
R0924:Adamts18	UTSW	8	114,432,028 (GRCm39)	splice site	probably null
R0930:Adamts18	UTSW	8	114,432,028 (GRCm39)	splice site	probably null
R1333:Adamts18	UTSW	8	114,431,805 (GRCm39)	splice site	probably benign
R1441:Adamts18	UTSW	8	114,481,194 (GRCm39)	critical splice donor site	probably null
R2082:Adamts18	UTSW	8	114,501,965 (GRCm39)	missense	probably damaging	1.00
R2371:Adamts18	UTSW	8	114,431,893 (GRCm39)	missense	probably benign	0.36
R3148:Adamts18	UTSW	8	114,465,490 (GRCm39)	missense	probably damaging	1.00
R3963:Adamts18	UTSW	8	114,504,443 (GRCm39)	missense	probably benign	0.00
R4056:Adamts18	UTSW	8	114,464,212 (GRCm39)	nonsense	probably null
R4486:Adamts18	UTSW	8	114,439,825 (GRCm39)	missense	probably benign	0.00
R4608:Adamts18	UTSW	8	114,464,245 (GRCm39)	missense	probably damaging	1.00
R4624:Adamts18	UTSW	8	114,499,800 (GRCm39)	nonsense	probably null
R4626:Adamts18	UTSW	8	114,499,800 (GRCm39)	nonsense	probably null
R4627:Adamts18	UTSW	8	114,499,800 (GRCm39)	nonsense	probably null
R4628:Adamts18	UTSW	8	114,499,800 (GRCm39)	nonsense	probably null
R4629:Adamts18	UTSW	8	114,499,800 (GRCm39)	nonsense	probably null
R4710:Adamts18	UTSW	8	114,433,558 (GRCm39)	missense	probably damaging	0.98
R4959:Adamts18	UTSW	8	114,463,357 (GRCm39)	nonsense	probably null
R4973:Adamts18	UTSW	8	114,463,357 (GRCm39)	nonsense	probably null
R4976:Adamts18	UTSW	8	114,425,642 (GRCm39)	missense	probably benign	0.31
R5119:Adamts18	UTSW	8	114,425,642 (GRCm39)	missense	probably benign	0.31
R5141:Adamts18	UTSW	8	114,501,902 (GRCm39)	missense	probably damaging	1.00
R5422:Adamts18	UTSW	8	114,425,606 (GRCm39)	missense	probably benign	0.06
R5587:Adamts18	UTSW	8	114,501,992 (GRCm39)	nonsense	probably null
R5868:Adamts18	UTSW	8	114,504,380 (GRCm39)	missense	possibly damaging	0.69
R5893:Adamts18	UTSW	8	114,499,709 (GRCm39)	missense	probably damaging	1.00
R5906:Adamts18	UTSW	8	114,436,251 (GRCm39)	missense	probably benign	0.00
R5942:Adamts18	UTSW	8	114,504,380 (GRCm39)	missense	probably benign	0.01
R6006:Adamts18	UTSW	8	114,433,606 (GRCm39)	missense	probably damaging	1.00
R6608:Adamts18	UTSW	8	114,501,911 (GRCm39)	missense	probably damaging	1.00
R6725:Adamts18	UTSW	8	114,469,833 (GRCm39)	missense	probably damaging	1.00
R7002:Adamts18	UTSW	8	114,501,922 (GRCm39)	missense	possibly damaging	0.69
R7276:Adamts18	UTSW	8	114,501,896 (GRCm39)	missense	probably damaging	0.99
R7292:Adamts18	UTSW	8	114,436,277 (GRCm39)	missense	probably benign	0.00
R7411:Adamts18	UTSW	8	114,504,362 (GRCm39)	missense	probably damaging	0.99
R7685:Adamts18	UTSW	8	114,439,855 (GRCm39)	missense	probably damaging	1.00
R7737:Adamts18	UTSW	8	114,463,566 (GRCm39)	splice site	probably null
R7860:Adamts18	UTSW	8	114,501,908 (GRCm39)	missense	probably damaging	1.00
R7936:Adamts18	UTSW	8	114,493,760 (GRCm39)	missense	probably damaging	1.00
R8197:Adamts18	UTSW	8	114,481,227 (GRCm39)	missense	probably damaging	1.00
R8363:Adamts18	UTSW	8	114,493,795 (GRCm39)	missense	probably damaging	1.00
R8759:Adamts18	UTSW	8	114,433,624 (GRCm39)	missense	probably damaging	1.00
R8934:Adamts18	UTSW	8	114,463,510 (GRCm39)	missense	possibly damaging	0.90
R9405:Adamts18	UTSW	8	114,430,030 (GRCm39)	missense	probably damaging	1.00
R9422:Adamts18	UTSW	8	114,501,910 (GRCm39)	missense	probably damaging	1.00
R9450:Adamts18	UTSW	8	114,490,942 (GRCm39)	missense	probably benign	0.10
R9475:Adamts18	UTSW	8	114,504,570 (GRCm39)	missense	possibly damaging	0.93
Z1088:Adamts18	UTSW	8	114,502,072 (GRCm39)	missense	possibly damaging	0.86
Z1176:Adamts18	UTSW	8	114,469,800 (GRCm39)	missense	possibly damaging	0.80

Predicted Primers

PCR Primer
(F):5'- CATTAGAGCAGGGCAGACTC -3'
(R):5'- CTGGAAAGTGGCCCTTTTGG -3'

Sequencing Primer
(F):5'- GCAGGGCAGACTCACCAAG -3'
(R):5'- GCTCTGGGTGCTGACAG -3'

Posted On

2014-10-01