Mutagenetix > Incidental Mutation

Incidental Mutation 'R0480:Adamts18'

41938

Institutional Source

Beutler Lab

Gene Symbol

Adamts18

Ensembl Gene

ENSMUSG00000053399

Gene Name

ADAM metallopeptidase with thrombospondin type 1 motif 18

Synonyms

E130314N14Rik

MMRRC Submission

038680-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.127) question?

Stock #

R0480 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

114423758-114575370 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 114465450 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 714 (V714A)

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: V714A

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000090801
Gene: ENSMUSG00000053399
AA Change: V714A

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

probably benign
Transcript: ENSMUST00000212665

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213076

Meta Mutation Damage Score

0.3421

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.3%
20x: 92.6%

Validation Efficiency

99% (117/118)

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: 113 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	C	T	11: 58,771,012 (GRCm39)	L165F	probably damaging	Het
Adamtsl1	G	T	4: 86,171,055 (GRCm39)	A518S	probably benign	Het
Adcy2	C	T	13: 68,880,231 (GRCm39)	V363M	probably damaging	Het
Ago4	G	T	4: 126,419,870 (GRCm39)	Q36K	probably benign	Het
Akr1a1	A	G	4: 116,497,044 (GRCm39)	V172A	possibly damaging	Het
Alkbh2	T	A	5: 114,263,596 (GRCm39)	N137I	probably damaging	Het
Ank3	T	A	10: 69,715,756 (GRCm39)	S470T	probably damaging	Het
Ankrd12	T	C	17: 66,356,823 (GRCm39)	T65A	possibly damaging	Het
Aox1	A	T	1: 58,082,810 (GRCm39)		probably benign	Het
Arhgap11a	A	T	2: 113,670,163 (GRCm39)	I320N	probably benign	Het
Arhgap17	G	A	7: 122,893,867 (GRCm39)	H518Y	probably damaging	Het
Ascc3	T	C	10: 50,611,348 (GRCm39)	V1563A	probably damaging	Het
Atf2	G	A	2: 73,649,500 (GRCm39)		probably benign	Het
Bmpr2	C	T	1: 59,884,818 (GRCm39)	T268I	probably damaging	Het
Bpifb9a	A	G	2: 154,106,608 (GRCm39)	I380V	probably benign	Het
C2cd2	G	A	16: 97,678,348 (GRCm39)	T363I	probably benign	Het
Catsperg2	T	G	7: 29,420,723 (GRCm39)	N190H	probably damaging	Het
Ccdc138	T	C	10: 58,397,789 (GRCm39)	L543S	probably damaging	Het
Ccdc170	A	T	10: 4,468,939 (GRCm39)	K162N	probably benign	Het
Cdca5	G	T	19: 6,140,328 (GRCm39)	R163L	probably damaging	Het
Cdh24	A	G	14: 54,870,054 (GRCm39)	F239S	probably benign	Het
Cdkl3	T	C	11: 51,895,882 (GRCm39)	V43A	probably damaging	Het
Cep152	G	T	2: 125,423,639 (GRCm39)	Q921K	possibly damaging	Het
Cftr	G	A	6: 18,274,517 (GRCm39)		probably benign	Het
Chmp5	T	C	4: 40,948,690 (GRCm39)		probably benign	Het
Cit	T	A	5: 116,071,452 (GRCm39)		probably benign	Het
Cngb3	T	A	4: 19,309,517 (GRCm39)		probably benign	Het
Cnr2	A	G	4: 135,644,912 (GRCm39)	E330G	probably benign	Het
Cyp21a1	A	T	17: 35,020,800 (GRCm39)	L473Q	probably damaging	Het
Dchs1	T	C	7: 105,420,696 (GRCm39)	T575A	probably benign	Het
Dedd2	A	G	7: 24,903,050 (GRCm39)	V303A	probably damaging	Het
Dmd	G	T	X: 83,469,344 (GRCm39)	A2370S	probably benign	Het
Dnah10	T	A	5: 124,885,915 (GRCm39)	N3009K	probably damaging	Het
Dnajc13	G	T	9: 104,077,708 (GRCm39)	N934K	probably damaging	Het
Dock1	C	T	7: 134,339,447 (GRCm39)	L106F	probably damaging	Het
Fat3	A	G	9: 15,909,025 (GRCm39)	Y2326H	probably benign	Het
Fhl5	A	T	4: 25,207,101 (GRCm39)	C222*	probably null	Het
Gnmt	T	C	17: 47,036,854 (GRCm39)	T252A	probably benign	Het
Gpi-ps	A	G	8: 5,689,888 (GRCm39)		noncoding transcript	Het
Gsta5	C	T	9: 78,210,099 (GRCm39)	A135V	probably benign	Het
Gtf2f1	A	G	17: 57,311,307 (GRCm39)		probably null	Het
Gtf3a	T	C	5: 146,890,039 (GRCm39)	Y187H	probably damaging	Het
Hdac2	A	G	10: 36,850,788 (GRCm39)	Y14C	probably damaging	Het
Hnrnph1	T	G	11: 50,276,589 (GRCm39)		probably benign	Het
Homer2	T	C	7: 81,268,351 (GRCm39)	D92G	possibly damaging	Het
Hspg2	T	C	4: 137,277,335 (GRCm39)	S2885P	probably damaging	Het
Insr	A	G	8: 3,211,770 (GRCm39)	S1084P	probably damaging	Het
Ints11	T	A	4: 155,972,081 (GRCm39)	V362E	probably damaging	Het
Kank2	T	C	9: 21,691,195 (GRCm39)	N513S	probably damaging	Het
Kl	T	G	5: 150,876,753 (GRCm39)	V191G	probably damaging	Het
Krt23	A	G	11: 99,377,524 (GRCm39)		probably null	Het
Lama3	A	C	18: 12,583,481 (GRCm39)	T690P	possibly damaging	Het
Lamb1	G	A	12: 31,332,720 (GRCm39)	A281T	possibly damaging	Het
Lck	T	C	4: 129,449,433 (GRCm39)	E299G	probably damaging	Het
Lonrf1	A	G	8: 36,689,864 (GRCm39)	V703A	probably damaging	Het
Ly6f	T	C	15: 75,143,526 (GRCm39)	C78R	probably damaging	Het
Mapkap1	C	T	2: 34,423,793 (GRCm39)		probably benign	Het
Mast1	T	A	8: 85,639,718 (GRCm39)	I1204F	probably damaging	Het
Mbd6	C	T	10: 127,121,742 (GRCm39)		probably benign	Het
Mef2c	A	T	13: 83,741,020 (GRCm39)	T60S	probably damaging	Het
Mgat4c	C	T	10: 102,224,980 (GRCm39)	T398I	probably damaging	Het
Mmp12	C	A	9: 7,350,016 (GRCm39)	H102Q	probably damaging	Het
Mmp20	G	A	9: 7,645,374 (GRCm39)	G308E	probably damaging	Het
Mms19	A	T	19: 41,943,285 (GRCm39)	L395Q	probably damaging	Het
Mus81	A	G	19: 5,537,959 (GRCm39)		probably benign	Het
Mypn	C	T	10: 63,028,982 (GRCm39)	R27H	probably benign	Het
Nav3	T	C	10: 109,689,161 (GRCm39)	E372G	probably damaging	Het
Ncoa1	T	A	12: 4,389,105 (GRCm39)	I57F	probably damaging	Het
Ncstn	T	C	1: 171,910,159 (GRCm39)		probably benign	Het
Nefm	C	T	14: 68,361,608 (GRCm39)	D219N	probably damaging	Het
Notch2	C	T	3: 98,053,853 (GRCm39)	T2172I	possibly damaging	Het
Obscn	T	A	11: 59,024,772 (GRCm39)	K423*	probably null	Het
Or51l14	A	G	7: 103,100,835 (GRCm39)	N97S	probably benign	Het
Or5d37	A	C	2: 87,923,972 (GRCm39)	S103A	probably benign	Het
Or5k1	T	C	16: 58,617,684 (GRCm39)	N175S	probably benign	Het
Or9a2	A	T	6: 41,749,198 (GRCm39)	C12S	probably benign	Het
Ostm1	T	A	10: 42,572,343 (GRCm39)	M242K	probably damaging	Het
Oxnad1	T	A	14: 31,821,437 (GRCm39)	I154N	probably damaging	Het
Pcdhb10	T	A	18: 37,546,152 (GRCm39)	D409E	probably damaging	Het
Pdcd11	T	C	19: 47,113,476 (GRCm39)		probably benign	Het
Peak1	C	A	9: 56,165,916 (GRCm39)	V671L	probably benign	Het
Pex1	G	A	5: 3,656,444 (GRCm39)		probably null	Het
Plk4	T	A	3: 40,760,075 (GRCm39)	F324I	probably benign	Het
Poglut2	C	T	1: 44,149,917 (GRCm39)	W424*	probably null	Het
Ppfibp1	C	A	6: 146,920,529 (GRCm39)		probably null	Het
Prcp	T	A	7: 92,568,290 (GRCm39)	W276R	probably damaging	Het
Prr14l	T	C	5: 32,987,224 (GRCm39)	E757G	probably benign	Het
Prss52	T	A	14: 64,351,093 (GRCm39)	Y293N	probably damaging	Het
Prune2	A	G	19: 16,984,156 (GRCm39)		probably benign	Het
Ptprk	G	C	10: 28,461,943 (GRCm39)	A84P	probably damaging	Het
Ptprk	C	T	10: 28,461,944 (GRCm39)	A84V	probably damaging	Het
Rock1	A	G	18: 10,079,120 (GRCm39)	L1116P	possibly damaging	Het
Sdha	A	T	13: 74,475,452 (GRCm39)	F526Y	probably benign	Het
Sema4b	T	C	7: 79,869,954 (GRCm39)	F414S	probably damaging	Het
Serpina12	T	C	12: 104,001,960 (GRCm39)	D252G	probably damaging	Het
Siglecg	C	T	7: 43,060,550 (GRCm39)	A310V	probably benign	Het
Slc30a8	A	G	15: 52,188,966 (GRCm39)	I194V	probably benign	Het
Spred3	A	G	7: 28,862,400 (GRCm39)	S148P	probably damaging	Het
Taf9b	A	G	X: 105,262,014 (GRCm39)	S58P	probably damaging	Het
Tgm4	A	T	9: 122,891,484 (GRCm39)	Y109F	probably benign	Het
Tmprss11c	T	G	5: 86,385,468 (GRCm39)		probably benign	Het
Tmtc3	A	T	10: 100,307,266 (GRCm39)	V246D	probably damaging	Het
Tnip1	C	T	11: 54,828,820 (GRCm39)	G116R	probably damaging	Het
Tpr	A	G	1: 150,303,992 (GRCm39)	E1455G	possibly damaging	Het
Ttc3	T	A	16: 94,232,863 (GRCm39)	L986*	probably null	Het
Txndc15	A	G	13: 55,872,436 (GRCm39)	I275V	possibly damaging	Het
Ugt2b1	T	A	5: 87,074,315 (GRCm39)	I15L	probably benign	Het
Upf2	T	C	2: 5,962,445 (GRCm39)	V49A	possibly damaging	Het
Vmn1r117	G	A	7: 20,617,371 (GRCm39)	P226S	probably benign	Het
Vmn2r28	A	T	7: 5,493,456 (GRCm39)	H163Q	probably benign	Het
Vstm2a	T	A	11: 16,213,240 (GRCm39)	S208R	probably damaging	Het
Zfp346	T	A	13: 55,260,910 (GRCm39)	C79*	probably null	Het
Zfp628	A	T	7: 4,924,615 (GRCm39)	T946S	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
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
R2146:Adamts18	UTSW	8	114,571,635 (GRCm39)	missense	possibly damaging	0.58
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'- ACAGGCATTGAGACATCACCGTC -3'
(R):5'- GCCACACTGTTTTGCACCCAAG -3'

Sequencing Primer
(F):5'- CACATTCTCTATGCCTAGAAGTGG -3'
(R):5'- GCTAGTTTTGATCCTGTCCTTTG -3'

Posted On

2013-05-23