Mutagenetix > Incidental Mutation

Incidental Mutation 'R3917:Adam19'

307363

Institutional Source

Beutler Lab

Gene Symbol

Adam19

Ensembl Gene

ENSMUSG00000011256

Gene Name

a disintegrin and metallopeptidase domain 19 (meltrin beta)

Synonyms

Mltnb

MMRRC Submission

040914-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3917 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

46055992-46147343 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 46060935 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 37 (E37G)

Ref Sequence

ENSEMBL: ENSMUSP00000011400 (fasta)

Gene Model

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

AlphaFold

O35674

Predicted Effect

probably benign
Transcript: ENSMUST00000011400
AA Change: E37G

PolyPhen 2 Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000011400
Gene: ENSMUSG00000011256
AA Change: E37G

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: ENSMUST00000137014

Meta Mutation Damage Score

0.0831

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.0%

Validation Efficiency

97% (74/76)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad12	A	G	5: 121,599,214 (GRCm38)	V498A	probably damaging	Het
Apol11b	A	G	15: 77,635,304 (GRCm38)	I192T	probably benign	Het
Appl1	A	T	14: 26,928,604 (GRCm38)	F537Y	probably damaging	Het
Atad5	A	C	11: 80,103,294 (GRCm38)	K785N	probably null	Het
Atp1b2	A	G	11: 69,603,075 (GRCm38)	V93A	probably damaging	Het
Bcam	T	C	7: 19,765,450 (GRCm38)	Y216C	probably damaging	Het
Brca2	A	G	5: 150,540,827 (GRCm38)	E1352G	probably damaging	Het
C030005K15Rik	A	C	10: 97,725,591 (GRCm38)	S93A	unknown	Het
Cadps	C	T	14: 12,457,702 (GRCm38)	A1060T	probably benign	Het
Ccdc88c	A	G	12: 100,941,107 (GRCm38)		probably null	Het
Ccdc89	A	G	7: 90,426,825 (GRCm38)	D81G	probably damaging	Het
Ccnt1	A	G	15: 98,544,059 (GRCm38)	S443P	probably benign	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,712,500 (GRCm38)		probably benign	Het
Cdc42bpa	T	C	1: 180,106,154 (GRCm38)		probably null	Het
Cdk11b	T	C	4: 155,626,801 (GRCm38)	S47P	probably damaging	Het
Cfap43	T	C	19: 47,897,750 (GRCm38)	D142G	probably benign	Het
Cntnap4	C	G	8: 112,875,533 (GRCm38)	P1190A	probably benign	Het
Colgalt2	T	A	1: 152,508,611 (GRCm38)	Y567*	probably null	Het
Dner	CGCTGCTGCTGCTGCTGCTGCTGCTGC	CGCTGCTGCTGCTGCTGCTGCTGC	1: 84,585,549 (GRCm38)		probably benign	Het
Dock7	T	C	4: 99,016,685 (GRCm38)	Y651C	probably damaging	Het
Fzd3	A	T	14: 65,235,930 (GRCm38)	F130I	probably damaging	Het
Gabarapl2	T	A	8: 111,952,396 (GRCm38)	F115L	probably benign	Het
Gm1043	G	A	5: 37,192,941 (GRCm38)		probably benign	Het
Gm12185	A	G	11: 48,915,933 (GRCm38)	F144L	probably benign	Het
Gm21961	A	T	15: 65,014,884 (GRCm38)	D7E	unknown	Het
Gtf3a	A	G	5: 146,955,434 (GRCm38)	K332E	probably benign	Het
Haao	A	G	17: 83,838,799 (GRCm38)		probably null	Het
Habp2	T	A	19: 56,311,179 (GRCm38)	C170S	probably damaging	Het
Heatr3	T	G	8: 88,150,371 (GRCm38)		probably null	Het
Herc1	T	G	9: 66,434,466 (GRCm38)	C1846G	possibly damaging	Het
Hivep3	T	C	4: 120,099,427 (GRCm38)	S1647P	probably benign	Het
Hnrnpul1	C	T	7: 25,726,875 (GRCm38)	R517Q	probably damaging	Het
Hspg2	A	G	4: 137,559,314 (GRCm38)	E3648G	probably damaging	Het
Jaml	T	C	9: 45,101,151 (GRCm38)		probably benign	Het
Jund	C	T	8: 70,699,023 (GRCm38)		probably benign	Het
Klra14-ps	T	C	6: 130,157,632 (GRCm38)		noncoding transcript	Het
Krt88	G	A	15: 101,452,928 (GRCm38)		probably null	Het
Lrp5	G	A	19: 3,612,330 (GRCm38)	R173C	probably damaging	Het
Lyzl4	T	A	9: 121,583,035 (GRCm38)	D105V	probably damaging	Het
Mst1	A	G	9: 108,084,295 (GRCm38)	I575V	probably benign	Het
Myd88	T	C	9: 119,341,398 (GRCm38)		probably benign	Het
Myo1d	A	T	11: 80,666,578 (GRCm38)	V512E	probably damaging	Het
Ndufv1	A	G	19: 4,010,002 (GRCm38)	Y33H	probably damaging	Het
Nwd1	T	A	8: 72,667,811 (GRCm38)	C608*	probably null	Het
Or10al2	T	A	17: 37,672,793 (GRCm38)	F257I	probably damaging	Het
Or8b37	A	T	9: 38,047,545 (GRCm38)	I108F	probably damaging	Het
Patj	A	T	4: 98,592,008 (GRCm38)	K1317*	probably null	Het
Pld5	A	G	1: 175,963,938 (GRCm38)	S501P	probably benign	Het
Pnpo	A	G	11: 96,939,757 (GRCm38)	V146A	probably damaging	Het
Ppdpf	A	G	2: 181,187,728 (GRCm38)	Y16C	probably benign	Het
Ppp1r27	A	G	11: 120,550,959 (GRCm38)	V32A	possibly damaging	Het
Rbm28	T	C	6: 29,154,789 (GRCm38)	D294G	probably benign	Het
Sdk1	T	A	5: 142,051,244 (GRCm38)	D817E	probably damaging	Het
Shank3	A	G	15: 89,503,384 (GRCm38)	D252G	possibly damaging	Het
Slc29a1	A	T	17: 45,588,973 (GRCm38)		probably null	Het
Slc35a5	G	C	16: 45,158,158 (GRCm38)		probably benign	Het
Slc6a5	T	C	7: 49,911,869 (GRCm38)	S50P	probably damaging	Het
Slfn8	A	T	11: 83,016,993 (GRCm38)	Y241*	probably null	Het
Slu7	G	T	11: 43,440,684 (GRCm38)		probably null	Het
Smad2	T	A	18: 76,287,937 (GRCm38)	D82E	probably benign	Het
Spx	A	C	6: 142,414,031 (GRCm38)	E33A	probably damaging	Het
Tdp1	A	G	12: 99,894,717 (GRCm38)	Y205C	probably damaging	Het
Tekt1	A	G	11: 72,345,748 (GRCm38)	I296T	possibly damaging	Het
Tgm1	G	A	14: 55,712,757 (GRCm38)		probably benign	Het
Tnks	A	G	8: 34,853,361 (GRCm38)	S719P	probably damaging	Het
Trip6	A	G	5: 137,313,679 (GRCm38)	C47R	probably benign	Het
Trpv3	A	G	11: 73,283,734 (GRCm38)	D309G	possibly damaging	Het
Tti2	A	G	8: 31,153,519 (GRCm38)	K221E	possibly damaging	Het
Ugcg	C	T	4: 59,207,798 (GRCm38)	P46S	probably benign	Het
Vmn1r57	A	T	7: 5,220,631 (GRCm38)	N52Y	probably damaging	Het
Vmn2r94	A	G	17: 18,244,358 (GRCm38)	F557L	probably benign	Het
Zbed5	T	C	5: 129,902,277 (GRCm38)	Y356H	possibly damaging	Het
Zfp1005	T	A	2: 150,266,119 (GRCm38)		probably benign	Het
Zic4	C	A	9: 91,384,341 (GRCm38)		probably benign	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
IGL01758:Adam19	APN	11	46,112,924 (GRCm38)	missense	probably benign	0.01
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
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

Predicted Primers

PCR Primer
(F):5'- GGGACACAGACCTTGTTTGC -3'
(R):5'- TCATAGAGTGAAGGAAAGTCCCC -3'

Sequencing Primer
(F):5'- TTTGTCACCAAGGCCCAGTG -3'
(R):5'- AGTCCCCGCTAAGATATCCTAAGTTG -3'

Posted On

2015-04-17