Mutagenetix > Incidental Mutation

Incidental Mutation 'R0771:Adam19'

76960

Institutional Source

Beutler Lab

Gene Symbol

Adam19

Ensembl Gene

ENSMUSG00000011256

Gene Name

ADAM metallopeptidase domain 19

Synonyms

Mltnb

MMRRC Submission

038951-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0771 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

45946819-46038170 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 46012280 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 259 (V259I)

Ref Sequence

ENSEMBL: ENSMUSP00000011400 (fasta)

Gene Model

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

AlphaFold

O35674

Predicted Effect

possibly damaging
Transcript: ENSMUST00000011400
AA Change: V259I

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000011400
Gene: ENSMUSG00000011256
AA Change: V259I

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

1x: 99.4%
3x: 98.8%
10x: 97.2%
20x: 94.4%

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abr	T	C	11: 76,346,509 (GRCm39)	E434G	probably damaging	Het
Adam5	A	G	8: 25,276,315 (GRCm39)	S451P	probably benign	Het
Chd6	G	A	2: 160,861,500 (GRCm39)	L516F	probably damaging	Het
Elovl4	A	G	9: 83,667,168 (GRCm39)	V154A	possibly damaging	Het
Gadl1	G	A	9: 115,773,300 (GRCm39)	R114Q	probably damaging	Het
Ipo13	T	C	4: 117,751,843 (GRCm39)	N936S	possibly damaging	Het
Kcnd2	T	A	6: 21,216,441 (GRCm39)	S48R	probably damaging	Het
Lgalsl2	A	G	7: 5,362,822 (GRCm39)	D151G	probably damaging	Het
Lim2	C	A	7: 43,080,127 (GRCm39)	A38E	possibly damaging	Het
Lrp2	A	T	2: 69,338,334 (GRCm39)	D1177E	probably damaging	Het
Mdh1	C	T	11: 21,507,550 (GRCm39)	V300I	probably benign	Het
Mfsd4b4	T	C	10: 39,768,407 (GRCm39)	T275A	probably benign	Het
Myo10	A	G	15: 25,778,264 (GRCm39)	Y114C	probably damaging	Het
Ncapg2	T	A	12: 116,376,779 (GRCm39)	C122*	probably null	Het
Nod1	T	G	6: 54,921,254 (GRCm39)	S355R	probably damaging	Het
Or52x1	T	A	7: 104,853,368 (GRCm39)	M61L	possibly damaging	Het
Or5ap2	A	T	2: 85,680,338 (GRCm39)	I181F	possibly damaging	Het
Pcsk1	A	T	13: 75,280,281 (GRCm39)	E702V	probably benign	Het
Ptpn21	T	C	12: 98,655,339 (GRCm39)	T543A	probably damaging	Het
Ranbp9	T	C	13: 43,615,249 (GRCm39)	I190V	possibly damaging	Het
Sirpd	T	A	3: 15,385,506 (GRCm39)	Q132L	probably benign	Het
Slc1a4	C	T	11: 20,256,467 (GRCm39)	V455M	probably damaging	Het
Srbd1	T	A	17: 86,437,682 (GRCm39)	E220D	probably benign	Het
Thsd7a	A	G	6: 12,327,576 (GRCm39)	V1432A	probably benign	Het
Zfp61	T	C	7: 23,992,779 (GRCm39)	R71G	probably benign	Het

Other mutations in Adam19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01433:Adam19	APN	11	46,003,610 (GRCm39)	missense	probably damaging	1.00
IGL01727:Adam19	APN	11	46,012,380 (GRCm39)	missense	probably benign
IGL01758:Adam19	APN	11	46,003,751 (GRCm39)	missense	probably benign	0.01
IGL02160:Adam19	APN	11	46,030,522 (GRCm39)	missense	probably damaging	0.99
IGL02421:Adam19	APN	11	46,028,380 (GRCm39)	missense	probably damaging	0.96
IGL02572:Adam19	APN	11	46,022,548 (GRCm39)	nonsense	probably null
IGL02995:Adam19	APN	11	46,027,176 (GRCm39)	missense	probably benign	0.00
IGL03171:Adam19	APN	11	46,029,681 (GRCm39)	missense	probably damaging	0.98
IGL03237:Adam19	APN	11	46,028,383 (GRCm39)	missense	probably benign
R0003:Adam19	UTSW	11	46,019,616 (GRCm39)	missense	probably damaging	1.00
R0026:Adam19	UTSW	11	46,027,086 (GRCm39)	missense	probably damaging	1.00
R0158:Adam19	UTSW	11	46,033,861 (GRCm39)	missense	probably damaging	1.00
R0304:Adam19	UTSW	11	46,018,219 (GRCm39)	missense	possibly damaging	0.91
R0488:Adam19	UTSW	11	46,029,757 (GRCm39)	missense	probably damaging	0.98
R0501:Adam19	UTSW	11	46,013,957 (GRCm39)	missense	probably damaging	1.00
R0591:Adam19	UTSW	11	46,012,238 (GRCm39)	splice site	probably benign
R0734:Adam19	UTSW	11	46,018,230 (GRCm39)	missense	probably damaging	0.99
R0747:Adam19	UTSW	11	46,009,322 (GRCm39)	splice site	probably null
R1052:Adam19	UTSW	11	46,018,092 (GRCm39)	missense	probably damaging	0.99
R1573:Adam19	UTSW	11	46,004,445 (GRCm39)	splice site	probably benign
R1735:Adam19	UTSW	11	46,029,744 (GRCm39)	missense	probably benign	0.26
R1830:Adam19	UTSW	11	46,018,105 (GRCm39)	missense	probably damaging	0.98
R1911:Adam19	UTSW	11	46,012,281 (GRCm39)	missense	probably damaging	1.00
R2092:Adam19	UTSW	11	45,951,731 (GRCm39)	splice site	probably null
R3749:Adam19	UTSW	11	46,028,437 (GRCm39)	missense	probably benign	0.00
R3893:Adam19	UTSW	11	46,019,665 (GRCm39)	missense	probably damaging	1.00
R3916:Adam19	UTSW	11	45,951,762 (GRCm39)	missense	probably benign	0.25
R3917:Adam19	UTSW	11	45,951,762 (GRCm39)	missense	probably benign	0.25
R4506:Adam19	UTSW	11	46,009,271 (GRCm39)	missense	possibly damaging	0.67
R4767:Adam19	UTSW	11	46,029,804 (GRCm39)	critical splice donor site	probably null
R5055:Adam19	UTSW	11	46,013,996 (GRCm39)	missense	probably damaging	1.00
R5313:Adam19	UTSW	11	46,022,603 (GRCm39)	missense	probably damaging	1.00
R5329:Adam19	UTSW	11	46,015,853 (GRCm39)	missense	probably damaging	0.99
R5567:Adam19	UTSW	11	46,027,077 (GRCm39)	missense	probably damaging	1.00
R5602:Adam19	UTSW	11	46,027,142 (GRCm39)	missense	probably benign
R6198:Adam19	UTSW	11	46,012,329 (GRCm39)	missense	probably damaging	1.00
R6875:Adam19	UTSW	11	46,003,702 (GRCm39)	missense	probably benign
R7011:Adam19	UTSW	11	46,033,845 (GRCm39)	missense	probably benign	0.00
R7163:Adam19	UTSW	11	46,022,544 (GRCm39)	missense	probably benign
R7213:Adam19	UTSW	11	46,012,298 (GRCm39)	missense	probably benign	0.20
R7267:Adam19	UTSW	11	46,012,403 (GRCm39)	nonsense	probably null
R7896:Adam19	UTSW	11	46,028,370 (GRCm39)	missense	probably damaging	1.00
R8012:Adam19	UTSW	11	45,955,873 (GRCm39)	missense	possibly damaging	0.74
R8059:Adam19	UTSW	11	46,027,293 (GRCm39)	splice site	probably benign
R8243:Adam19	UTSW	11	46,015,909 (GRCm39)	missense	probably damaging	1.00
R8357:Adam19	UTSW	11	46,030,939 (GRCm39)	missense	probably damaging	0.96
R8419:Adam19	UTSW	11	46,015,850 (GRCm39)	missense	possibly damaging	0.77
R8457:Adam19	UTSW	11	46,030,939 (GRCm39)	missense	probably damaging	0.96
R9163:Adam19	UTSW	11	46,018,176 (GRCm39)	missense	probably benign	0.02
R9349:Adam19	UTSW	11	46,022,570 (GRCm39)	nonsense	probably null
R9489:Adam19	UTSW	11	46,028,449 (GRCm39)	missense	probably benign	0.10
R9579:Adam19	UTSW	11	46,009,262 (GRCm39)	missense	probably benign	0.00
R9641:Adam19	UTSW	11	46,027,149 (GRCm39)	missense	probably damaging	1.00
X0067:Adam19	UTSW	11	45,946,942 (GRCm39)	start codon destroyed	probably null	0.06

Predicted Primers

PCR Primer
(F):5'- GGTCCACCAAAGAACCCCTTGATG -3'
(R):5'- ACAAGACCAGAAAAGGGCTGCTTAC -3'

Sequencing Primer
(F):5'- CAAAGAACCCCTTGATGGTTAG -3'
(R):5'- CTCTTCTGAGCAAGCAGCTT -3'

Posted On

2013-10-16