Mutagenetix > Incidental Mutation

Incidental Mutation 'R0514:Adamts18'

261914

Institutional Source

Beutler Lab

Gene Symbol

Adamts18

Ensembl Gene

ENSMUSG00000053399

Gene Name

ADAM metallopeptidase with thrombospondin type 1 motif 18

Synonyms

E130314N14Rik

MMRRC Submission

038708-MU

Accession Numbers

Essential gene?

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

Stock #

R0514 (G1)

Quality Score

132

Status

Not validated

Chromosome

Chromosomal Location

114423758-114575370 bp(-) (GRCm39)

Type of Mutation

splice site (27 bp from exon)

DNA Base Change (assembly)

C to T at 114465401 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000090801 (fasta)

Gene Model

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

AlphaFold

Q4VC17

Predicted Effect

probably null
Transcript: ENSMUST00000093113

SMART Domains

Protein: ENSMUSP00000090801
Gene: ENSMUSG00000053399

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.1%

Validation Efficiency

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp3	T	A	9: 104,197,177 (GRCm39)	Y154F	probably damaging	Het
Acsl6	A	T	11: 54,241,406 (GRCm39)	D579V	probably damaging	Het
Adamts20	A	T	15: 94,168,257 (GRCm39)	V1882D	probably damaging	Het
Add3	A	T	19: 53,225,274 (GRCm39)	K465*	probably null	Het
Ago1	T	G	4: 126,333,388 (GRCm39)	I524L	probably benign	Het
Akr1c18	A	G	13: 4,187,190 (GRCm39)	M208T	probably benign	Het
Anapc1	C	A	2: 128,474,575 (GRCm39)	L1413F	probably damaging	Het
Arid4b	A	T	13: 14,358,902 (GRCm39)	D646V	probably damaging	Het
Arnt2	T	C	7: 83,954,067 (GRCm39)	E261G	probably benign	Het
Bccip	C	T	7: 133,320,859 (GRCm39)	T211I	possibly damaging	Het
Bsn	T	C	9: 108,002,981 (GRCm39)	S475G	probably benign	Het
Cdh26	G	A	2: 178,108,621 (GRCm39)		probably null	Het
Ceacam2	A	G	7: 25,220,356 (GRCm39)	F414S	probably benign	Het
Cep43	A	G	17: 8,410,266 (GRCm39)	N342S	possibly damaging	Het
Cfb	T	C	17: 35,079,874 (GRCm39)	R172G	probably damaging	Het
Cntnap5b	A	C	1: 99,700,511 (GRCm39)	T8P	probably benign	Het
Cpne9	A	T	6: 113,266,974 (GRCm39)	I136L	probably damaging	Het
Crtc1	A	T	8: 70,855,079 (GRCm39)		probably null	Het
Dcdc2a	A	T	13: 25,303,369 (GRCm39)	H300L	probably benign	Het
Dhdh	C	T	7: 45,138,130 (GRCm39)	V20M	probably benign	Het
Dhx34	T	C	7: 15,944,462 (GRCm39)	Q584R	probably benign	Het
Dis3l2	A	G	1: 86,974,814 (GRCm39)	Y701C	probably damaging	Het
Dmrt2	T	C	19: 25,653,019 (GRCm39)		probably null	Het
Dnah5	A	G	15: 28,366,467 (GRCm39)	T2727A	probably damaging	Het
Dop1a	A	G	9: 86,402,787 (GRCm39)	E1329G	probably damaging	Het
Evpl	A	G	11: 116,114,117 (GRCm39)	V1191A	probably damaging	Het
Fhl4	T	C	10: 84,934,250 (GRCm39)	D177G	probably damaging	Het
Gask1a	A	G	9: 121,807,418 (GRCm39)	T521A	possibly damaging	Het
Heg1	A	G	16: 33,547,126 (GRCm39)	T662A	possibly damaging	Het
Ifih1	A	G	2: 62,453,735 (GRCm39)		probably null	Het
Il13	T	C	11: 53,523,345 (GRCm39)	R87G	possibly damaging	Het
Kcnc3	T	A	7: 44,245,352 (GRCm39)	Y547*	probably null	Het
Krt81	C	A	15: 101,361,508 (GRCm39)	R24L	possibly damaging	Het
Lama1	G	A	17: 68,071,693 (GRCm39)	G860D	probably benign	Het
Lmo7	T	C	14: 102,124,609 (GRCm39)	L356P	probably damaging	Het
Lmo7	A	T	14: 102,133,995 (GRCm39)	K447I	probably damaging	Het
Lrp2bp	A	G	8: 46,464,995 (GRCm39)	H38R	probably damaging	Het
Magi3	G	A	3: 103,922,338 (GRCm39)	P1460S	probably damaging	Het
Megf8	T	A	7: 25,063,728 (GRCm39)	C2695S	possibly damaging	Het
Mrgprb2	T	G	7: 48,201,718 (GRCm39)	S336R	probably benign	Het
Mrgprx2	C	T	7: 48,132,712 (GRCm39)	M1I	probably null	Het
Mug2	T	C	6: 122,058,558 (GRCm39)	L1320P	probably damaging	Het
Noxred1	A	G	12: 87,273,838 (GRCm39)	S68P	probably benign	Het
Or51f5	T	A	7: 102,424,539 (GRCm39)	H269Q	probably benign	Het
Or56b1b	T	A	7: 108,164,879 (GRCm39)	Y41F	probably damaging	Het
Os9	C	T	10: 126,955,508 (GRCm39)	C123Y	probably damaging	Het
Ostf1	T	A	19: 18,573,723 (GRCm39)	T42S	probably benign	Het
Parg	C	A	14: 31,976,517 (GRCm39)	T186K	possibly damaging	Het
Pcnx1	T	A	12: 82,041,884 (GRCm39)	M2172K	probably benign	Het
Pip4k2a	A	G	2: 18,850,747 (GRCm39)	I360T	probably damaging	Het
Pkn2	T	C	3: 142,516,219 (GRCm39)	D568G	possibly damaging	Het
Plch2	A	G	4: 155,083,343 (GRCm39)	S431P	probably damaging	Het
Prl8a6	A	T	13: 27,616,990 (GRCm39)	C233*	probably null	Het
Prox1	G	A	1: 189,893,653 (GRCm39)	T264I	probably damaging	Het
Prr5	A	G	15: 84,586,967 (GRCm39)	N248S	probably benign	Het
Psip1	A	C	4: 83,378,274 (GRCm39)	S407R	probably damaging	Het
Rab32	A	T	10: 10,426,640 (GRCm39)	V102E	probably damaging	Het
Rap1gap2	T	G	11: 74,279,680 (GRCm39)	K687Q	possibly damaging	Het
Rbak	A	T	5: 143,159,169 (GRCm39)	V628E	probably damaging	Het
Rnf148	T	C	6: 23,654,792 (GRCm39)	E68G	possibly damaging	Het
Rnf212	A	T	5: 108,897,308 (GRCm39)	S3T	probably damaging	Het
Rrad	T	G	8: 105,355,259 (GRCm39)	I250L	probably benign	Het
Sall4	T	C	2: 168,597,625 (GRCm39)	H405R	probably damaging	Het
Scn9a	T	C	2: 66,314,022 (GRCm39)	R1888G	probably damaging	Het
Setd5	G	T	6: 113,096,398 (GRCm39)	E535*	probably null	Het
Slc20a1	C	T	2: 129,041,811 (GRCm39)	S58L	probably damaging	Het
Slc31a1	A	G	4: 62,303,841 (GRCm39)		probably benign	Het
Slc38a11	G	T	2: 65,147,209 (GRCm39)	Q423K	probably benign	Het
Snrpd1	A	T	18: 10,626,846 (GRCm39)	T38S	possibly damaging	Het
Taar4	A	G	10: 23,836,780 (GRCm39)	D130G	probably damaging	Het
Tfb2m	C	T	1: 179,358,869 (GRCm39)	R338H	probably benign	Het
Tm2d2	A	G	8: 25,512,742 (GRCm39)	I197V	possibly damaging	Het
Tmem132a	C	T	19: 10,836,355 (GRCm39)	G725D	probably damaging	Het
Tmem67	T	C	4: 12,089,317 (GRCm39)	T38A	probably benign	Het
Tmprss15	A	T	16: 78,765,155 (GRCm39)	S816T	probably benign	Het
Tnfrsf11a	A	G	1: 105,754,717 (GRCm39)	E263G	probably damaging	Het
Tnfrsf17	C	T	16: 11,133,191 (GRCm39)	L90F	probably benign	Het
Tpr	A	G	1: 150,278,024 (GRCm39)	K117E	possibly damaging	Het
Trim43a	C	T	9: 88,466,389 (GRCm39)	Q5*	probably null	Het
Ubn1	A	T	16: 4,890,935 (GRCm39)	D498V	probably damaging	Het
Vipr1	T	A	9: 121,487,115 (GRCm39)	C63S	probably damaging	Het
Vmn1r237	T	A	17: 21,534,932 (GRCm39)	H218Q	possibly damaging	Het
Vmn2r100	C	A	17: 19,742,382 (GRCm39)	P252Q	possibly damaging	Het
Vmn2r95	T	C	17: 18,671,844 (GRCm39)	V527A	probably benign	Het
Vmn2r97	A	T	17: 19,134,734 (GRCm39)	T51S	probably benign	Het
Vwa8	G	A	14: 79,184,629 (GRCm39)	V376I	probably benign	Het
Wdfy4	T	A	14: 32,802,732 (GRCm39)	T1838S	probably benign	Het
Zcwpw1	A	T	5: 137,794,945 (GRCm39)	E47V	probably benign	Het
Zeb2	T	C	2: 44,892,659 (GRCm39)	E130G	possibly damaging	Het
Zfp111	A	G	7: 23,898,568 (GRCm39)	Y348H	probably damaging	Het
Zfp53	T	C	17: 21,729,271 (GRCm39)	S435P	probably damaging	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
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

Posted On

2015-02-04