Mutagenetix > Incidental Mutation

Incidental Mutation 'R5567:Adam19'

501216

Institutional Source

Beutler Lab

Gene Symbol

Adam19

Ensembl Gene

ENSMUSG00000011256

Gene Name

a disintegrin and metallopeptidase domain 19 (meltrin beta)

Synonyms

Mltnb

MMRRC Submission

043124-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5567 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

46055992-46147343 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 46136250 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 570 (D570G)

Ref Sequence

ENSEMBL: ENSMUSP00000011400 (fasta)

Gene Model

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

AlphaFold

O35674

Predicted Effect

probably damaging
Transcript: ENSMUST00000011400
AA Change: D570G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000011400
Gene: ENSMUSG00000011256
AA Change: D570G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151565

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153410

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.0%

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	C	T	6: 86,955,168	Q374*	probably null	Het
Aqr	G	A	2: 114,148,970	T328M	probably damaging	Het
Boc	G	A	16: 44,492,824	T559I	probably damaging	Het
Cadps	A	T	14: 12,473,497	I876N	possibly damaging	Het
Cdh9	A	G	15: 16,855,844	T657A	probably damaging	Het
Cep104	T	C	4: 154,002,277	S794P	possibly damaging	Het
Cep72	T	C	13: 74,040,141	Q211R	probably benign	Het
Coq6	T	A	12: 84,368,639	D145E	probably benign	Het
Crym	T	C	7: 120,201,893	E11G	probably benign	Het
Csmd3	A	T	15: 47,645,468	M2907K	possibly damaging	Het
Cspg4	A	C	9: 56,886,648	I556L	probably benign	Het
Cwf19l2	T	A	9: 3,456,831	D721E	probably damaging	Het
Defb36	T	A	2: 152,612,583	V54E	probably damaging	Het
Dlg5	C	A	14: 24,192,913	E55*	probably null	Het
Dna2	G	T	10: 62,966,673	A857S	possibly damaging	Het
E330034G19Rik	A	G	14: 24,296,824	K60E	possibly damaging	Het
Eps8l2	G	A	7: 141,355,007	R76Q	possibly damaging	Het
Fbxl18	A	G	5: 142,895,267		probably benign	Het
Flnc	T	A	6: 29,444,045	C619*	probably null	Het
Ftcd	A	G	10: 76,588,133	K503E	probably benign	Het
Gbp2b	C	T	3: 142,611,365	A494V	possibly damaging	Het
Gfral	C	T	9: 76,208,618	A25T	probably benign	Het
Gins2	T	A	8: 120,588,945	D24V	possibly damaging	Het
Gm10985	T	C	3: 53,845,262	I22T	probably damaging	Het
Gm9992	T	C	17: 7,363,803	T456A	probably benign	Het
Golga4	T	A	9: 118,558,183	S1458T	probably damaging	Het
Gpatch1	T	C	7: 35,307,215	K176R	probably damaging	Het
Gsto1	T	C	19: 47,857,899	W62R	probably damaging	Het
Gtf2h3	C	T	5: 124,584,297	T121I	probably benign	Het
Gxylt1	A	G	15: 93,254,299		probably null	Het
Hs6st1	C	T	1: 36,103,638	P218L	probably benign	Het
Itpr3	C	T	17: 27,103,906	T1119M	possibly damaging	Het
Kif5c	A	G	2: 49,730,199	D226G	possibly damaging	Het
Klk1b1	T	A	7: 43,971,169	S228T	probably damaging	Het
Krt1	A	G	15: 101,846,905	F473S	probably benign	Het
Large1	A	G	8: 72,837,453	S562P	possibly damaging	Het
Lpxn	T	A	19: 12,832,659	M265K	possibly damaging	Het
Lrriq1	G	A	10: 103,170,596	P1223S	possibly damaging	Het
Map3k9	A	G	12: 81,732,024	L505P	possibly damaging	Het
Morn2	A	G	17: 80,297,280	D128G	probably damaging	Het
Msl2	A	G	9: 101,101,737	K437E	possibly damaging	Het
Msr1	T	C	8: 39,611,719	I305V	probably benign	Het
Muc4	A	G	16: 32,777,692	E3237G	possibly damaging	Het
Mxra8	T	C	4: 155,841,008	M58T	probably damaging	Het
Myo16	A	G	8: 10,322,676	D125G	probably damaging	Het
Myom2	A	G	8: 15,102,546	Q631R	probably benign	Het
Nlrp1b	T	A	11: 71,181,403	H538L	probably benign	Het
Nme3	T	A	17: 24,896,849		probably null	Het
Nop2	T	C	6: 125,133,763	S68P	probably benign	Het
Nploc4	C	T	11: 120,384,614	V499M	probably benign	Het
Nub1	A	G	5: 24,708,816	E565G	possibly damaging	Het
Olfr1012	G	A	2: 85,759,650	S242F	probably damaging	Het
Olfr378	C	T	11: 73,425,446	C179Y	probably damaging	Het
Olfr49	A	G	14: 54,282,368	F176L	probably damaging	Het
Olfr859	A	G	9: 19,808,378	D20G	probably damaging	Het
Parl	A	G	16: 20,283,012	M90T	probably damaging	Het
Pelo	T	C	13: 115,089,616	I102V	probably benign	Het
Pigt	T	A	2: 164,501,562	Y319*	probably null	Het
Plb1	A	G	5: 32,364,199	T1465A	unknown	Het
Plxna4	T	C	6: 32,157,980	N1763D	possibly damaging	Het
Pmpca	A	G	2: 26,390,541	E133G	probably damaging	Het
Pus7l	G	A	15: 94,527,865	P552S	probably benign	Het
Qsox2	A	G	2: 26,225,218	M1T	probably null	Het
Ralb	C	T	1: 119,483,535	V25I	probably damaging	Het
Rbbp6	A	G	7: 123,001,834		probably benign	Het
Rnf43	A	G	11: 87,727,445	E187G	probably damaging	Het
Rpl31	C	T	1: 39,370,027	R41C	probably benign	Het
Scap	A	G	9: 110,377,644	S386G	probably damaging	Het
Skint10	T	C	4: 112,715,870	Y243C	probably damaging	Het
Stpg2	A	G	3: 139,419,786	T447A	probably benign	Het
Tas1r1	G	A	4: 152,038,325	A21V	probably damaging	Het
Tas2r122	C	T	6: 132,711,372	G186E	probably benign	Het
Tenm4	C	A	7: 96,896,209	Y2477*	probably null	Het
Them7	A	G	2: 105,378,808	T158A	probably benign	Het
Tmcc2	A	C	1: 132,357,805	S608A	probably benign	Het
Ttc41	T	C	10: 86,760,920		probably null	Het
Ttk	T	A	9: 83,862,535	N593K	possibly damaging	Het
Tulp1	A	G	17: 28,359,198	V289A	possibly damaging	Het
Uhrf1bp1l	T	A	10: 89,808,521	M29K	probably benign	Het
Usp34	A	C	11: 23,488,336	Q278P	probably damaging	Het
Vmn2r78	T	A	7: 86,921,529	D418E	probably benign	Het
Vmn2r90	C	T	17: 17,712,074	A81V	probably damaging	Het
Xpc	T	A	6: 91,498,135	N636I	probably damaging	Het
Zfp563	A	T	17: 33,089,457		probably benign	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
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
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	probably benign	0.00
R9641:Adam19	UTSW	11	46136322	missense	probably damaging	1.00
X0067:Adam19	UTSW	11	46056115	start codon destroyed	probably null	0.06

Predicted Primers

PCR Primer
(F):5'- ATCCTAAGTTGAGCTCTTGGC -3'
(R):5'- TTGGTTCCAGTCATCACCAG -3'

Sequencing Primer
(F):5'- TCTGCTGAGACACAAGGAACCTG -3'
(R):5'- TCCAGTCATCACCAGCCCTG -3'

Posted On

2017-12-01