Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01290:Adamts18'

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Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Adamts18

Ensembl Gene

ENSMUSG00000053399

Gene Name

ADAM metallopeptidase with thrombospondin type 1 motif 18

Synonyms

E130314N14Rik

Accession Numbers

Essential gene?

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

Stock #

IGL01290

Quality Score

Status

Chromosome

Chromosomal Location

114423758-114575370 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 114501575 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 349 (E349D)

Ref Sequence

ENSEMBL: ENSMUSP00000090801 (fasta)

Gene Model

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

AlphaFold

Q4VC17

Predicted Effect

probably damaging
Transcript: ENSMUST00000093113
AA Change: E349D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000090801
Gene: ENSMUSG00000053399
AA Change: E349D

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: ENSMUST00000213076

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213078

Coding Region Coverage

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020L24Rik	A	G	11: 83,331,621 (GRCm39)	H148R	possibly damaging	Het
Abca13	T	A	11: 9,206,232 (GRCm39)	H177Q	probably damaging	Het
Cers5	G	A	15: 99,637,536 (GRCm39)	R190*	probably null	Het
Cntnap2	C	T	6: 45,992,399 (GRCm39)	T442I	probably benign	Het
Col14a1	C	T	15: 55,286,903 (GRCm39)	A908V	unknown	Het
Ctnna2	T	C	6: 76,859,543 (GRCm39)	D951G	possibly damaging	Het
Dock3	T	C	9: 106,835,599 (GRCm39)		probably benign	Het
Enpp2	T	C	15: 54,782,998 (GRCm39)	T106A	possibly damaging	Het
Fscn3	T	C	6: 28,430,505 (GRCm39)	V225A	probably benign	Het
Ftmt	A	G	18: 52,465,185 (GRCm39)	N167S	probably damaging	Het
Gnal	A	G	18: 67,344,169 (GRCm39)	D181G	probably damaging	Het
Gxylt2	A	G	6: 100,727,408 (GRCm39)	Y174C	probably damaging	Het
Hgf	G	A	5: 16,809,844 (GRCm39)	D445N	probably damaging	Het
Hoxb8	A	G	11: 96,175,093 (GRCm39)	I176V	possibly damaging	Het
Itgbl1	A	T	14: 124,204,137 (GRCm39)	E285D	probably benign	Het
Megf8	C	T	7: 25,049,083 (GRCm39)	R1727*	probably null	Het
Nrap	T	C	19: 56,350,180 (GRCm39)	D611G	probably damaging	Het
Nudt19	A	G	7: 35,247,501 (GRCm39)	S303P	probably damaging	Het
Rhcg	A	G	7: 79,248,342 (GRCm39)	F421L	probably benign	Het
Ripk2	T	C	4: 16,139,198 (GRCm39)		probably benign	Het
Rnf139	A	G	15: 58,770,175 (GRCm39)	I67V	probably benign	Het
Smarca5	A	G	8: 81,454,277 (GRCm39)	S256P	probably benign	Het
Sun3	C	T	11: 8,973,341 (GRCm39)	G119S	possibly damaging	Het
Tlr12	A	C	4: 128,511,630 (GRCm39)	S207A	probably damaging	Het
Uhrf2	T	A	19: 30,016,701 (GRCm39)		probably benign	Het
Zdhhc16	T	A	19: 41,926,487 (GRCm39)		probably null	Het

Other mutations in Adamts18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2013-10-07