Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01433:Adam19'

84228

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

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01433

Quality Score

Status

Chromosome

Chromosomal Location

46055992-46147343 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 46112783 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 146 (L146P)

Ref Sequence

ENSEMBL: ENSMUSP00000011400 (fasta)

Gene Model

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

AlphaFold

O35674

Predicted Effect

probably damaging
Transcript: ENSMUST00000011400
AA Change: L146P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000011400
Gene: ENSMUSG00000011256
AA Change: L146P

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011H14Rik	G	T	14: 49,235,884	T128K	probably benign	Het
4932438A13Rik	T	G	3: 36,887,770	S241R	probably damaging	Het
9030624J02Rik	A	G	7: 118,774,051		probably null	Het
Actrt3	C	T	3: 30,598,039	G302D	probably damaging	Het
Adcy8	T	A	15: 64,737,414	Y852F	possibly damaging	Het
Arfgef1	T	C	1: 10,153,432	T1520A	probably damaging	Het
Atp8b1	C	T	18: 64,573,519	V199I	probably benign	Het
Avl9	A	G	6: 56,753,397	D575G	probably damaging	Het
Bcam	C	A	7: 19,760,182	V395L	possibly damaging	Het
Cgn	T	A	3: 94,779,459	N178Y	probably damaging	Het
D5Ertd579e	A	T	5: 36,618,754	D168E	probably damaging	Het
Dnah17	G	T	11: 118,049,934	T3288K	probably damaging	Het
Ednrb	A	T	14: 103,843,190	I96N	probably damaging	Het
Gdpd3	A	G	7: 126,771,184	I264V	possibly damaging	Het
Itih4	T	C	14: 30,895,448	V575A	probably benign	Het
Jhy	G	A	9: 40,917,216	R465C	possibly damaging	Het
Kcna4	C	T	2: 107,296,733	S604F	probably damaging	Het
Kcnj6	A	G	16: 94,832,955	V99A	probably benign	Het
Kdm2a	A	G	19: 4,342,860	I489T	possibly damaging	Het
Kif13a	A	G	13: 46,772,908	S241P	probably damaging	Het
Lax1	T	C	1: 133,680,399	I201M	probably benign	Het
Lzic	T	A	4: 149,488,147	S65T	probably benign	Het
March9	T	C	10: 127,056,693	T309A	probably benign	Het
Ndufc1	T	C	3: 51,407,376	K70E	possibly damaging	Het
Olfr635	A	T	7: 103,979,332	I53F	probably damaging	Het
Optn	T	C	2: 5,027,144	K504R	probably benign	Het
Pagr1a	A	G	7: 127,015,475		probably benign	Het
Pold1	G	A	7: 44,543,232		probably benign	Het
Ptprq	A	G	10: 107,576,880	I1786T	probably damaging	Het
Rgs20	T	C	1: 5,070,077	D34G	possibly damaging	Het
Rnps1	T	C	17: 24,424,545		probably null	Het
Rpgrip1	T	C	14: 52,126,377	V261A	probably damaging	Het
Sfxn1	A	G	13: 54,093,916	N220S	probably benign	Het
Slc35f1	T	A	10: 53,073,446		probably benign	Het
Slc5a4b	T	C	10: 76,070,495		probably benign	Het
Snx19	A	G	9: 30,428,771	I402V	possibly damaging	Het
Spaca6	T	C	17: 17,831,167	V35A	probably benign	Het
Taar2	A	G	10: 23,940,759	T66A	probably benign	Het
Tanc2	C	T	11: 105,810,522	H288Y	possibly damaging	Het
Tbc1d31	A	G	15: 57,940,768	Q393R	probably benign	Het
Trpm1	A	G	7: 64,204,528	Y133C	probably damaging	Het
Vmn2r105	T	C	17: 20,228,555	D120G	probably benign	Het
Vmn2r56	C	A	7: 12,715,614	M232I	probably benign	Het
Zfp251	C	T	15: 76,854,555	V113I	probably benign	Het

Other mutations in Adam19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01727:Adam19	APN	11	46121553	missense	probably benign
IGL01758:Adam19	APN	11	46112924	missense	probably benign	0.01
IGL02160:Adam19	APN	11	46139695	missense	probably damaging	0.99
IGL02421:Adam19	APN	11	46137553	missense	probably damaging	0.96
IGL02572:Adam19	APN	11	46131721	nonsense	probably null
IGL02995:Adam19	APN	11	46136349	missense	probably benign	0.00
IGL03171:Adam19	APN	11	46138854	missense	probably damaging	0.98
IGL03237:Adam19	APN	11	46137556	missense	probably benign
R0003:Adam19	UTSW	11	46128789	missense	probably damaging	1.00
R0026:Adam19	UTSW	11	46136259	missense	probably damaging	1.00
R0158:Adam19	UTSW	11	46143034	missense	probably damaging	1.00
R0304:Adam19	UTSW	11	46127392	missense	possibly damaging	0.91
R0488:Adam19	UTSW	11	46138930	missense	probably damaging	0.98
R0501:Adam19	UTSW	11	46123130	missense	probably damaging	1.00
R0591:Adam19	UTSW	11	46121411	splice site	probably benign
R0734:Adam19	UTSW	11	46127403	missense	probably damaging	0.99
R0747:Adam19	UTSW	11	46118495	splice site	probably null
R0771:Adam19	UTSW	11	46121453	missense	possibly damaging	0.92
R1052:Adam19	UTSW	11	46127265	missense	probably damaging	0.99
R1573:Adam19	UTSW	11	46113618	splice site	probably benign
R1735:Adam19	UTSW	11	46138917	missense	probably benign	0.26
R1830:Adam19	UTSW	11	46127278	missense	probably damaging	0.98
R1911:Adam19	UTSW	11	46121454	missense	probably damaging	1.00
R2092:Adam19	UTSW	11	46060904	splice site	probably null
R3749:Adam19	UTSW	11	46137610	missense	probably benign	0.00
R3893:Adam19	UTSW	11	46128838	missense	probably damaging	1.00
R3916:Adam19	UTSW	11	46060935	missense	probably benign	0.25
R3917:Adam19	UTSW	11	46060935	missense	probably benign	0.25
R4506:Adam19	UTSW	11	46118444	missense	possibly damaging	0.67
R4767:Adam19	UTSW	11	46138977	critical splice donor site	probably null
R5055:Adam19	UTSW	11	46123169	missense	probably damaging	1.00
R5313:Adam19	UTSW	11	46131776	missense	probably damaging	1.00
R5329:Adam19	UTSW	11	46125026	missense	probably damaging	0.99
R5567:Adam19	UTSW	11	46136250	missense	probably damaging	1.00
R5602:Adam19	UTSW	11	46136315	missense	probably benign
R6198:Adam19	UTSW	11	46121502	missense	probably damaging	1.00
R6875:Adam19	UTSW	11	46112875	missense	probably benign
R7011:Adam19	UTSW	11	46143018	missense	probably benign	0.00
R7163:Adam19	UTSW	11	46131717	missense	probably benign
R7213:Adam19	UTSW	11	46121471	missense	probably benign	0.20
R7267:Adam19	UTSW	11	46121576	nonsense	probably null
R7896:Adam19	UTSW	11	46137543	missense	probably damaging	1.00
R8012:Adam19	UTSW	11	46065046	missense	possibly damaging	0.74
R8059:Adam19	UTSW	11	46136466	splice site	probably benign
R8243:Adam19	UTSW	11	46125082	missense	probably damaging	1.00
R8357:Adam19	UTSW	11	46140112	missense	probably damaging	0.96
R8419:Adam19	UTSW	11	46125023	missense	possibly damaging	0.77
R8457:Adam19	UTSW	11	46140112	missense	probably damaging	0.96
R9163:Adam19	UTSW	11	46127349	missense	probably benign	0.02
R9349:Adam19	UTSW	11	46131743	nonsense	probably null
R9489:Adam19	UTSW	11	46137622	missense	probably benign	0.10
X0067:Adam19	UTSW	11	46056115	start codon destroyed	probably null	0.06

Posted On

2013-11-11