Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01758:Adam19'

153473

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Adam19

Ensembl Gene

ENSMUSG00000011256

Gene Name

a disintegrin and metallopeptidase domain 19 (meltrin beta)

Synonyms

Mltnb

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01758

Quality Score

Status

Chromosome

Chromosomal Location

46055992-46147343 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 46112924 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 193 (H193L)

Ref Sequence

ENSEMBL: ENSMUSP00000011400 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000011400]

AlphaFold

O35674

Predicted Effect

probably benign
Transcript: ENSMUST00000011400
AA Change: H193L

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000011400
Gene: ENSMUSG00000011256
AA Change: H193L

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Pfam:Pep_M12B_propep	32	163	9.4e-27	PFAM
Pfam:Reprolysin_5	209	388	1.9e-25	PFAM
Pfam:Reprolysin_4	209	399	1.5e-15	PFAM
Pfam:Reprolysin	211	409	1.3e-68	PFAM
Pfam:Reprolysin_2	231	399	6.1e-19	PFAM
Pfam:Reprolysin_3	235	357	1.2e-19	PFAM
DISIN	426	501	9.7e-41	SMART
ACR	502	650	7.46e-62	SMART
transmembrane domain	704	726	N/A	INTRINSIC
low complexity region	788	797	N/A	INTRINSIC
low complexity region	832	846	N/A	INTRINSIC
low complexity region	886	905	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a cell surface glycoprotein and member of the ADAM (a disintegrin and metalloproteinase) family of endopeptidases. The encoded protein may play a role in the ectodomain shedding of neuregulin proteins. Homozygous knockout mice for this gene exhibit heart development defects and perinatal lethality. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that undergoes proteolytic processing to generate a mature protein product. [provided by RefSeq, Aug 2015]
PHENOTYPE: Homozygous null mice exhibit cardiac developmental defects and die perinatally. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	T	C	11: 120,010,819 (GRCm38)	D860G	possibly damaging	Het
Acot7	T	C	4: 152,217,793 (GRCm38)	C121R	probably damaging	Het
AI661453	T	A	17: 47,466,623 (GRCm38)		probably benign	Het
Bod1l	T	C	5: 41,826,610 (GRCm38)		probably benign	Het
Brd4	T	C	17: 32,212,829 (GRCm38)		probably benign	Het
Capn12	G	A	7: 28,886,623 (GRCm38)		probably null	Het
Cdh18	A	G	15: 23,474,183 (GRCm38)	Q713R	probably benign	Het
Cfap52	A	T	11: 67,953,580 (GRCm38)	L103Q	possibly damaging	Het
Dpy19l4	T	A	4: 11,265,846 (GRCm38)	T475S	probably damaging	Het
Fat2	A	T	11: 55,296,209 (GRCm38)	D1270E	probably damaging	Het
Hfm1	T	C	5: 106,904,793 (GRCm38)	K275E	probably damaging	Het
Ift172	T	C	5: 31,280,714 (GRCm38)	D426G	probably benign	Het
Mrc1	T	C	2: 14,238,248 (GRCm38)	S62P	probably damaging	Het
Olfr275	G	T	4: 52,825,468 (GRCm38)	E24*	probably null	Het
Olfr914	T	A	9: 38,607,293 (GRCm38)	I276K	probably damaging	Het
Ptgs2	A	T	1: 150,101,989 (GRCm38)		probably null	Het
Rxfp1	T	A	3: 79,652,216 (GRCm38)	I433F	possibly damaging	Het
Sbf1	C	T	15: 89,303,215 (GRCm38)		probably benign	Het
Serpinb13	T	G	1: 107,000,754 (GRCm38)	F368C	probably damaging	Het
Slc9c1	T	A	16: 45,541,461 (GRCm38)	S80R	probably damaging	Het
Spats2l	G	T	1: 57,879,556 (GRCm38)	V30L	probably damaging	Het
Stat1	A	G	1: 52,136,921 (GRCm38)	E195G	probably damaging	Het
Tbx5	T	A	5: 119,844,958 (GRCm38)		probably benign	Het
Tmem165	A	G	5: 76,204,163 (GRCm38)	T164A	probably damaging	Het
Trim66	A	T	7: 109,486,045 (GRCm38)		probably null	Het
Trip10	T	A	17: 57,261,409 (GRCm38)	V405E	possibly damaging	Het
Vmn2r92	T	A	17: 18,152,013 (GRCm38)	C28*	probably null	Het
Wdr60	G	A	12: 116,218,798 (GRCm38)	P728L	possibly damaging	Het
Zbtb8a	C	T	4: 129,357,847 (GRCm38)	C277Y	probably damaging	Het
Zfp638	T	C	6: 83,979,526 (GRCm38)	F1705S	probably damaging	Het

Other mutations in Adam19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01433:Adam19	APN	11	46,112,783 (GRCm38)	missense	probably damaging	1.00
IGL01727:Adam19	APN	11	46,121,553 (GRCm38)	missense	probably benign
IGL02160:Adam19	APN	11	46,139,695 (GRCm38)	missense	probably damaging	0.99
IGL02421:Adam19	APN	11	46,137,553 (GRCm38)	missense	probably damaging	0.96
IGL02572:Adam19	APN	11	46,131,721 (GRCm38)	nonsense	probably null
IGL02995:Adam19	APN	11	46,136,349 (GRCm38)	missense	probably benign	0.00
IGL03171:Adam19	APN	11	46,138,854 (GRCm38)	missense	probably damaging	0.98
IGL03237:Adam19	APN	11	46,137,556 (GRCm38)	missense	probably benign
R0003:Adam19	UTSW	11	46,128,789 (GRCm38)	missense	probably damaging	1.00
R0026:Adam19	UTSW	11	46,136,259 (GRCm38)	missense	probably damaging	1.00
R0158:Adam19	UTSW	11	46,143,034 (GRCm38)	missense	probably damaging	1.00
R0304:Adam19	UTSW	11	46,127,392 (GRCm38)	missense	possibly damaging	0.91
R0488:Adam19	UTSW	11	46,138,930 (GRCm38)	missense	probably damaging	0.98
R0501:Adam19	UTSW	11	46,123,130 (GRCm38)	missense	probably damaging	1.00
R0591:Adam19	UTSW	11	46,121,411 (GRCm38)	splice site	probably benign
R0734:Adam19	UTSW	11	46,127,403 (GRCm38)	missense	probably damaging	0.99
R0747:Adam19	UTSW	11	46,118,495 (GRCm38)	splice site	probably null
R0771:Adam19	UTSW	11	46,121,453 (GRCm38)	missense	possibly damaging	0.92
R1052:Adam19	UTSW	11	46,127,265 (GRCm38)	missense	probably damaging	0.99
R1573:Adam19	UTSW	11	46,113,618 (GRCm38)	splice site	probably benign
R1735:Adam19	UTSW	11	46,138,917 (GRCm38)	missense	probably benign	0.26
R1830:Adam19	UTSW	11	46,127,278 (GRCm38)	missense	probably damaging	0.98
R1911:Adam19	UTSW	11	46,121,454 (GRCm38)	missense	probably damaging	1.00
R2092:Adam19	UTSW	11	46,060,904 (GRCm38)	splice site	probably null
R3749:Adam19	UTSW	11	46,137,610 (GRCm38)	missense	probably benign	0.00
R3893:Adam19	UTSW	11	46,128,838 (GRCm38)	missense	probably damaging	1.00
R3916:Adam19	UTSW	11	46,060,935 (GRCm38)	missense	probably benign	0.25
R3917:Adam19	UTSW	11	46,060,935 (GRCm38)	missense	probably benign	0.25
R4506:Adam19	UTSW	11	46,118,444 (GRCm38)	missense	possibly damaging	0.67
R4767:Adam19	UTSW	11	46,138,977 (GRCm38)	critical splice donor site	probably null
R5055:Adam19	UTSW	11	46,123,169 (GRCm38)	missense	probably damaging	1.00
R5313:Adam19	UTSW	11	46,131,776 (GRCm38)	missense	probably damaging	1.00
R5329:Adam19	UTSW	11	46,125,026 (GRCm38)	missense	probably damaging	0.99
R5567:Adam19	UTSW	11	46,136,250 (GRCm38)	missense	probably damaging	1.00
R5602:Adam19	UTSW	11	46,136,315 (GRCm38)	missense	probably benign
R6198:Adam19	UTSW	11	46,121,502 (GRCm38)	missense	probably damaging	1.00
R6875:Adam19	UTSW	11	46,112,875 (GRCm38)	missense	probably benign
R7011:Adam19	UTSW	11	46,143,018 (GRCm38)	missense	probably benign	0.00
R7163:Adam19	UTSW	11	46,131,717 (GRCm38)	missense	probably benign
R7213:Adam19	UTSW	11	46,121,471 (GRCm38)	missense	probably benign	0.20
R7267:Adam19	UTSW	11	46,121,576 (GRCm38)	nonsense	probably null
R7896:Adam19	UTSW	11	46,137,543 (GRCm38)	missense	probably damaging	1.00
R8012:Adam19	UTSW	11	46,065,046 (GRCm38)	missense	possibly damaging	0.74
R8059:Adam19	UTSW	11	46,136,466 (GRCm38)	splice site	probably benign
R8243:Adam19	UTSW	11	46,125,082 (GRCm38)	missense	probably damaging	1.00
R8357:Adam19	UTSW	11	46,140,112 (GRCm38)	missense	probably damaging	0.96
R8419:Adam19	UTSW	11	46,125,023 (GRCm38)	missense	possibly damaging	0.77
R8457:Adam19	UTSW	11	46,140,112 (GRCm38)	missense	probably damaging	0.96
R9163:Adam19	UTSW	11	46,127,349 (GRCm38)	missense	probably benign	0.02
R9349:Adam19	UTSW	11	46,131,743 (GRCm38)	nonsense	probably null
R9489:Adam19	UTSW	11	46,137,622 (GRCm38)	missense	probably benign	0.10
R9579:Adam19	UTSW	11	46,118,435 (GRCm38)	missense	probably benign	0.00
R9641:Adam19	UTSW	11	46,136,322 (GRCm38)	missense	probably damaging	1.00
X0067:Adam19	UTSW	11	46,056,115 (GRCm38)	start codon destroyed	probably null	0.06

Posted On

2014-02-04