Mutagenetix > Incidental Mutation

Incidental Mutation 'R0747:Adam19'

70194

Institutional Source

Beutler Lab

Gene Symbol

Adam19

Ensembl Gene

ENSMUSG00000011256

Gene Name

a disintegrin and metallopeptidase domain 19 (meltrin beta)

Synonyms

Mltnb

MMRRC Submission

038928-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0747 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

46055992-46147343 bp(+) (GRCm38)

Type of Mutation

splice site (4 bp from exon)

DNA Base Change (assembly)

A to T at 46118495 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000011400 (fasta)

Gene Model

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

AlphaFold

O35674

Predicted Effect

probably null
Transcript: ENSMUST00000011400

SMART Domains

Protein: ENSMUSP00000011400
Gene: ENSMUSG00000011256

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 94.8%

Validation Efficiency

100% (50/50)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3830406C13Rik	T	A	14: 12,287,287	M16K	probably benign	Het
Anks4b	C	T	7: 120,182,163	A139V	probably damaging	Het
Arf1	G	A	11: 59,212,635	R149C	probably benign	Het
Axl	A	T	7: 25,764,059	C598S	possibly damaging	Het
B3gnt2	T	C	11: 22,836,316	I291V	possibly damaging	Het
Ccdc158	T	A	5: 92,633,297	H883L	probably benign	Het
Col6a3	A	G	1: 90,802,653	S1644P	probably damaging	Het
Cspg4	T	C	9: 56,890,280	S1343P	probably damaging	Het
D430041D05Rik	G	T	2: 104,230,306	H1414Q	probably damaging	Het
Dnah5	C	G	15: 28,444,186	I4043M	probably damaging	Het
Dnah5	T	A	15: 28,444,187	C4044S	possibly damaging	Het
Dpep3	C	T	8: 105,977,386	A267T	probably benign	Het
Dync1h1	A	C	12: 110,612,411	H106P	probably benign	Het
Dync1h1	A	C	12: 110,629,284	E1466A	probably damaging	Het
Fggy	T	C	4: 95,812,100		probably benign	Het
Frmd6	A	G	12: 70,864,056	T5A	probably benign	Het
Gnb5	G	A	9: 75,311,470	V26I	probably benign	Het
Hephl1	A	T	9: 15,054,001		probably benign	Het
Hmmr	C	T	11: 40,721,745		probably benign	Het
Hpn	A	T	7: 31,099,546	F356Y	probably damaging	Het
Iqgap3	T	C	3: 88,107,503		probably benign	Het
Ism2	A	G	12: 87,285,398		probably benign	Het
Kansl1	T	A	11: 104,342,976	M754L	probably benign	Het
Kcnc4	A	T	3: 107,448,154	I326N	probably damaging	Het
Lcn6	G	A	2: 25,677,172	V62M	probably damaging	Het
Lrp1b	A	T	2: 40,870,341	C2858S	probably damaging	Het
Lyn	G	A	4: 3,745,638		probably benign	Het
Mov10	T	A	3: 104,802,496	H358L	probably benign	Het
Notch1	A	G	2: 26,472,140	V60A	unknown	Het
Olfr720	C	T	14: 14,175,429	A218T	probably benign	Het
Pgap2	C	A	7: 102,237,136	Y176*	probably null	Het
Pglyrp1	A	G	7: 18,890,275	Q161R	possibly damaging	Het
Plod3	A	G	5: 136,988,195	N66S	probably benign	Het
Psmc3	A	G	2: 91,054,300	E18G	probably benign	Het
Psme3	T	G	11: 101,317,046	M9R	probably benign	Het
Rapgef4	A	G	2: 72,223,073	N428S	possibly damaging	Het
Rbp3	A	G	14: 33,956,278	I728V	possibly damaging	Het
Sall4	A	T	2: 168,754,966	H651Q	probably damaging	Het
Skint3	T	A	4: 112,253,905	Y76N	probably damaging	Het
Slc13a4	T	C	6: 35,278,328	T342A	probably damaging	Het
Slc25a1	G	T	16: 17,926,220	T239K	probably damaging	Het
Slc36a2	T	A	11: 55,169,859	I242F	probably benign	Het
Tekt2	G	A	4: 126,323,760	Q171*	probably null	Het
Tet2	T	G	3: 133,467,470	H1677P	possibly damaging	Het
Trappc9	G	A	15: 73,025,967	R377W	probably damaging	Het
Trcg1	C	T	9: 57,241,921	P259S	probably benign	Het
Ttn	A	C	2: 76,710,598	S25688A	probably damaging	Het
Vmn2r117	T	A	17: 23,475,503	R457*	probably null	Het
Zbbx	C	T	3: 75,155,427	V8I	probably damaging	Het

Other mutations in Adam19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01433:Adam19	APN	11	46112783	missense	probably damaging	1.00
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
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
R9579:Adam19	UTSW	11	46118435	missense	not run
X0067:Adam19	UTSW	11	46056115	start codon destroyed	probably null	0.06

Predicted Primers

PCR Primer
(F):5'- AGCAAAGAGACCATTCCCTCCTCTG -3'
(R):5'- AAACCTGACCCAAGAAGCTGAGTTG -3'

Sequencing Primer
(F):5'- GGTAGCCAAGATAGATCTCACTCAG -3'
(R):5'- CCAAGAAGCTGAGTTGTTTGCC -3'

Posted On

2013-09-30