Mutagenetix > Incidental Mutation

Incidental Mutation 'R2146:Adamts18'

233837

Institutional Source

Beutler Lab

Gene Symbol

Adamts18

Ensembl Gene

ENSMUSG00000053399

Gene Name

a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 18

Synonyms

E130314N14Rik

MMRRC Submission

040149-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.120) question?

Stock #

R2146 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

113697126-113848738 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 113845003 bp (GRCm38)

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: 124,347,844 (GRCm38)		probably null	Het
9530002B09Rik	T	A	4: 122,689,405 (GRCm38)	C13*	probably null	Het
Abca12	C	A	1: 71,263,488 (GRCm38)	V2191L	probably benign	Het
Anxa2	TCCC	TCC	9: 69,489,754 (GRCm38)		probably null	Het
Arfgef1	C	T	1: 10,199,878 (GRCm38)	A349T	probably benign	Het
Arhgap6	A	G	X: 168,796,500 (GRCm38)	T94A	probably benign	Het
Arhgef5	T	C	6: 43,283,318 (GRCm38)	S1413P	probably damaging	Het
Atg4c	C	A	4: 99,221,226 (GRCm38)	N143K	possibly damaging	Het
C1qtnf12	A	G	4: 155,966,465 (GRCm38)	N297S	probably benign	Het
Cadps2	G	T	6: 23,838,999 (GRCm38)		probably benign	Het
Ccdc185	G	T	1: 182,747,520 (GRCm38)	H535N	possibly damaging	Het
Ccdc57	A	G	11: 120,885,225 (GRCm38)		probably benign	Het
Cd163	A	G	6: 124,309,208 (GRCm38)	H239R	probably damaging	Het
Ceacam2	G	T	7: 25,527,943 (GRCm38)	C166*	probably null	Het
Ces5a	T	A	8: 93,534,699 (GRCm38)	E33D	probably benign	Het
Chl1	T	C	6: 103,715,401 (GRCm38)		probably null	Het
Chsy3	G	A	18: 59,176,472 (GRCm38)	V266I	probably benign	Het
Cpa5	G	T	6: 30,626,822 (GRCm38)	R251L	probably damaging	Het
Cps1	A	C	1: 67,152,379 (GRCm38)		probably benign	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,741,236 (GRCm38)		probably null	Het
Cstf1	T	C	2: 172,375,763 (GRCm38)	Y99H	probably damaging	Het
Cyp2j11	G	A	4: 96,316,358 (GRCm38)	T317I	probably damaging	Het
Dcaf8l	T	C	X: 89,406,277 (GRCm38)	D82G	possibly damaging	Het
Dennd3	A	T	15: 73,555,060 (GRCm38)	H762L	probably benign	Het
Dennd3	C	T	15: 73,523,496 (GRCm38)	T146M	probably damaging	Het
Dnah2	T	C	11: 69,515,761 (GRCm38)	M552V	probably benign	Het
Dnajc22	T	C	15: 99,104,383 (GRCm38)	V303A	probably benign	Het
Dtx2	T	G	5: 136,030,610 (GRCm38)	L458R	probably benign	Het
Fat3	A	T	9: 15,990,512 (GRCm38)	F3072L	probably benign	Het
Fgf5	T	C	5: 98,275,550 (GRCm38)	*265R	probably null	Het
Fndc11	A	G	2: 181,222,125 (GRCm38)	E241G	probably damaging	Het
Glb1	T	C	9: 114,450,648 (GRCm38)	Y375H	probably damaging	Het
Gm4922	T	G	10: 18,783,516 (GRCm38)	Q486P	probably benign	Het
Gm5786	A	T	12: 59,081,298 (GRCm38)		noncoding transcript	Het
Hepacam2	A	T	6: 3,463,378 (GRCm38)		probably benign	Het
Ints9	G	A	14: 64,986,343 (GRCm38)	G89R	possibly damaging	Het
Iqcm	T	A	8: 75,888,613 (GRCm38)	W441R	probably damaging	Het
Itga10	G	T	3: 96,653,723 (GRCm38)	G635W	probably damaging	Het
Itga10	T	C	3: 96,651,492 (GRCm38)	L382P	possibly damaging	Het
Kbtbd2	A	G	6: 56,779,090 (GRCm38)	Y554H	probably damaging	Het
Kif1b	T	C	4: 149,184,309 (GRCm38)	K1649R	probably damaging	Het
L1cam	A	T	X: 73,861,141 (GRCm38)	F536Y	probably damaging	Het
Magee1	A	T	X: 105,122,958 (GRCm38)	D783V	probably damaging	Het
Marveld3	A	T	8: 109,959,802 (GRCm38)	V144E	probably benign	Het
Mcam	T	C	9: 44,136,635 (GRCm38)	V59A	probably damaging	Het
Mdga2	C	T	12: 66,868,741 (GRCm38)	E47K	probably damaging	Het
Metrn	T	A	17: 25,796,627 (GRCm38)	E38V	probably damaging	Het
Mfrp	T	C	9: 44,103,718 (GRCm38)	L314P	probably benign	Het
Mgat4f	T	A	1: 134,390,513 (GRCm38)	M341K	probably damaging	Het
Mideas	G	T	12: 84,173,035 (GRCm38)	P382T	probably damaging	Het
Mospd2	A	G	X: 164,956,477 (GRCm38)		probably null	Het
Mycbp2	G	A	14: 103,155,922 (GRCm38)	H3068Y	probably damaging	Het
Myh6	C	T	14: 54,953,771 (GRCm38)	R871H	probably damaging	Het
Nup214	C	T	2: 32,034,466 (GRCm38)	S1669F	probably damaging	Het
Or13c7b	A	G	4: 43,821,178 (GRCm38)	F61S	probably damaging	Het
Or5b111	T	C	19: 13,314,121 (GRCm38)	T55A	probably benign	Het
Or8i2	T	A	2: 87,021,665 (GRCm38)	N293I	probably damaging	Het
Parvb	A	G	15: 84,232,168 (GRCm38)	K33E	possibly damaging	Het
Pdcd11	A	G	19: 47,104,752 (GRCm38)	M490V	probably benign	Het
Pkd2	A	C	5: 104,455,590 (GRCm38)		probably benign	Het
Reps1	T	A	10: 18,093,313 (GRCm38)	D206E	probably benign	Het
Rimkla	T	A	4: 119,474,582 (GRCm38)	M140L	possibly damaging	Het
Rnf13	T	G	3: 57,802,486 (GRCm38)	I150S	probably null	Het
Rxfp4	C	T	3: 88,652,893 (GRCm38)	A84T	probably damaging	Het
Serpinb8	T	A	1: 107,605,927 (GRCm38)	D237E	probably benign	Het
Sgo2b	T	G	8: 63,928,023 (GRCm38)	T592P	probably benign	Het
Slc35d1	A	T	4: 103,205,152 (GRCm38)	I228N	probably damaging	Het
Slc39a1	T	G	3: 90,249,450 (GRCm38)	H104Q	probably benign	Het
Slc6a6	T	C	6: 91,735,180 (GRCm38)	V230A	probably benign	Het
Slc9a3	A	G	13: 74,121,603 (GRCm38)	E30G	probably benign	Het
Slc9c1	A	G	16: 45,593,464 (GRCm38)	Y985C	probably benign	Het
Supt6	A	G	11: 78,230,932 (GRCm38)	F298S	probably damaging	Het
Tada2a	T	C	11: 84,079,629 (GRCm38)	D432G	probably damaging	Het
Thoc2l	T	C	5: 104,518,991 (GRCm38)	F460L	probably benign	Het
Tmem131	C	A	1: 36,812,609 (GRCm38)	V938L	probably benign	Het
Tnpo3	A	G	6: 29,589,036 (GRCm38)	V105A	probably benign	Het
Ttc7	T	C	17: 87,346,707 (GRCm38)		probably benign	Het
Ttn	T	C	2: 76,897,188 (GRCm38)		probably benign	Het
Usp16	T	C	16: 87,473,187 (GRCm38)		probably null	Het
Usp36	A	G	11: 118,268,665 (GRCm38)	L486S	probably benign	Het
Uty	T	C	Y: 1,239,816 (GRCm38)	I72V	probably benign	Het
Vps51	A	G	19: 6,068,134 (GRCm38)	V777A	probably benign	Het
Zfp160	A	G	17: 21,026,982 (GRCm38)	K598R	probably benign	Het
Zfp39	T	C	11: 58,890,332 (GRCm38)	N535D	probably benign	Het
Zfp804a	A	G	2: 82,258,664 (GRCm38)	T946A	probably benign	Het

Other mutations in Adamts18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01290:Adamts18	APN	8	113,774,943 (GRCm38)	missense	probably damaging	1.00
IGL01548:Adamts18	APN	8	113,764,299 (GRCm38)	missense	probably damaging	1.00
IGL01556:Adamts18	APN	8	113,845,109 (GRCm38)	missense	probably benign	0.01
IGL01833:Adamts18	APN	8	113,743,096 (GRCm38)	missense	probably benign	0.10
IGL02187:Adamts18	APN	8	113,713,194 (GRCm38)	missense	possibly damaging	0.93
IGL02551:Adamts18	APN	8	113,699,072 (GRCm38)	missense	probably damaging	1.00
IGL02756:Adamts18	APN	8	113,714,344 (GRCm38)	splice site	probably benign
IGL03188:Adamts18	APN	8	113,699,024 (GRCm38)	missense	probably damaging	1.00
IGL03411:Adamts18	APN	8	113,764,297 (GRCm38)	nonsense	probably null
G1patch:Adamts18	UTSW	8	113,743,201 (GRCm38)	missense	probably damaging	1.00
R0119:Adamts18	UTSW	8	113,774,953 (GRCm38)	missense	possibly damaging	0.94
R0378:Adamts18	UTSW	8	113,743,117 (GRCm38)	missense	probably damaging	1.00
R0410:Adamts18	UTSW	8	113,714,358 (GRCm38)	nonsense	probably null
R0480:Adamts18	UTSW	8	113,738,818 (GRCm38)	missense	possibly damaging	0.93
R0514:Adamts18	UTSW	8	113,738,769 (GRCm38)	splice site	probably null
R0924:Adamts18	UTSW	8	113,705,396 (GRCm38)	splice site	probably null
R0930:Adamts18	UTSW	8	113,705,396 (GRCm38)	splice site	probably null
R1333:Adamts18	UTSW	8	113,705,173 (GRCm38)	splice site	probably benign
R1441:Adamts18	UTSW	8	113,754,562 (GRCm38)	critical splice donor site	probably null
R2082:Adamts18	UTSW	8	113,775,333 (GRCm38)	missense	probably damaging	1.00
R2371:Adamts18	UTSW	8	113,705,261 (GRCm38)	missense	probably benign	0.36
R3148:Adamts18	UTSW	8	113,738,858 (GRCm38)	missense	probably damaging	1.00
R3963:Adamts18	UTSW	8	113,777,811 (GRCm38)	missense	probably benign	0.00
R4056:Adamts18	UTSW	8	113,737,580 (GRCm38)	nonsense	probably null
R4486:Adamts18	UTSW	8	113,713,193 (GRCm38)	missense	probably benign	0.00
R4608:Adamts18	UTSW	8	113,737,613 (GRCm38)	missense	probably damaging	1.00
R4624:Adamts18	UTSW	8	113,773,168 (GRCm38)	nonsense	probably null
R4626:Adamts18	UTSW	8	113,773,168 (GRCm38)	nonsense	probably null
R4627:Adamts18	UTSW	8	113,773,168 (GRCm38)	nonsense	probably null
R4628:Adamts18	UTSW	8	113,773,168 (GRCm38)	nonsense	probably null
R4629:Adamts18	UTSW	8	113,773,168 (GRCm38)	nonsense	probably null
R4710:Adamts18	UTSW	8	113,706,926 (GRCm38)	missense	probably damaging	0.98
R4959:Adamts18	UTSW	8	113,736,725 (GRCm38)	nonsense	probably null
R4973:Adamts18	UTSW	8	113,736,725 (GRCm38)	nonsense	probably null
R4976:Adamts18	UTSW	8	113,699,010 (GRCm38)	missense	probably benign	0.31
R5119:Adamts18	UTSW	8	113,699,010 (GRCm38)	missense	probably benign	0.31
R5141:Adamts18	UTSW	8	113,775,270 (GRCm38)	missense	probably damaging	1.00
R5422:Adamts18	UTSW	8	113,698,974 (GRCm38)	missense	probably benign	0.06
R5587:Adamts18	UTSW	8	113,775,360 (GRCm38)	nonsense	probably null
R5868:Adamts18	UTSW	8	113,777,748 (GRCm38)	missense	possibly damaging	0.69
R5893:Adamts18	UTSW	8	113,773,077 (GRCm38)	missense	probably damaging	1.00
R5906:Adamts18	UTSW	8	113,709,619 (GRCm38)	missense	probably benign	0.00
R5942:Adamts18	UTSW	8	113,777,748 (GRCm38)	missense	probably benign	0.01
R6006:Adamts18	UTSW	8	113,706,974 (GRCm38)	missense	probably damaging	1.00
R6608:Adamts18	UTSW	8	113,775,279 (GRCm38)	missense	probably damaging	1.00
R6725:Adamts18	UTSW	8	113,743,201 (GRCm38)	missense	probably damaging	1.00
R7002:Adamts18	UTSW	8	113,775,290 (GRCm38)	missense	possibly damaging	0.69
R7276:Adamts18	UTSW	8	113,775,264 (GRCm38)	missense	probably damaging	0.99
R7292:Adamts18	UTSW	8	113,709,645 (GRCm38)	missense	probably benign	0.00
R7411:Adamts18	UTSW	8	113,777,730 (GRCm38)	missense	probably damaging	0.99
R7685:Adamts18	UTSW	8	113,713,223 (GRCm38)	missense	probably damaging	1.00
R7737:Adamts18	UTSW	8	113,736,934 (GRCm38)	splice site	probably null
R7860:Adamts18	UTSW	8	113,775,276 (GRCm38)	missense	probably damaging	1.00
R7936:Adamts18	UTSW	8	113,767,128 (GRCm38)	missense	probably damaging	1.00
R8197:Adamts18	UTSW	8	113,754,595 (GRCm38)	missense	probably damaging	1.00
R8363:Adamts18	UTSW	8	113,767,163 (GRCm38)	missense	probably damaging	1.00
R8759:Adamts18	UTSW	8	113,706,992 (GRCm38)	missense	probably damaging	1.00
R8934:Adamts18	UTSW	8	113,736,878 (GRCm38)	missense	possibly damaging	0.90
R9405:Adamts18	UTSW	8	113,703,398 (GRCm38)	missense	probably damaging	1.00
R9422:Adamts18	UTSW	8	113,775,278 (GRCm38)	missense	probably damaging	1.00
R9450:Adamts18	UTSW	8	113,764,310 (GRCm38)	missense	probably benign	0.10
R9475:Adamts18	UTSW	8	113,777,938 (GRCm38)	missense	possibly damaging	0.93
Z1088:Adamts18	UTSW	8	113,775,440 (GRCm38)	missense	possibly damaging	0.86
Z1176:Adamts18	UTSW	8	113,743,168 (GRCm38)	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