Mutagenetix > Incidental Mutation

Incidental Mutation 'R0304:Adam19'

37772

Institutional Source

Beutler Lab

Gene Symbol

Adam19

Ensembl Gene

ENSMUSG00000011256

Gene Name

a disintegrin and metallopeptidase domain 19 (meltrin beta)

Synonyms

Mltnb

MMRRC Submission

038515-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0304 (G1)

Quality Score

209

Status

Validated

Chromosome

Chromosomal Location

46055992-46147343 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 46127392 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 427 (D427A)

Ref Sequence

ENSEMBL: ENSMUSP00000011400 (fasta)

Gene Model

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

AlphaFold

O35674

Predicted Effect

possibly damaging
Transcript: ENSMUST00000011400
AA Change: D427A

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000011400
Gene: ENSMUSG00000011256
AA Change: D427A

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

Meta Mutation Damage Score

0.0869

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.2%
20x: 95.3%

Validation Efficiency

98% (95/97)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430007A20Rik	C	T	4: 144,520,049 (GRCm38)	T55I	probably benign	Het
Acod1	T	A	14: 103,054,982 (GRCm38)	I314N	probably damaging	Het
Actl11	T	A	9: 107,929,768 (GRCm38)	V430E	probably damaging	Het
Adarb2	C	T	13: 8,752,570 (GRCm38)		probably benign	Het
Akap7	A	T	10: 25,271,552 (GRCm38)	H93Q	probably damaging	Het
Ankrd36	C	A	11: 5,628,981 (GRCm38)	R82S	possibly damaging	Het
Arhgap21	A	T	2: 20,859,801 (GRCm38)		probably benign	Het
Atm	T	A	9: 53,516,344 (GRCm38)	I489F	probably benign	Het
AU019823	T	C	9: 50,607,922 (GRCm38)	D130G	probably damaging	Het
Carmil1	T	C	13: 24,139,341 (GRCm38)	S243G	probably damaging	Het
Cdc42bpg	T	C	19: 6,317,248 (GRCm38)	V939A	probably damaging	Het
Cel	A	C	2: 28,557,771 (GRCm38)	L377R	probably benign	Het
Clock	A	G	5: 76,226,985 (GRCm38)	V779A	unknown	Het
Cluap1	G	A	16: 3,929,918 (GRCm38)		probably benign	Het
Ctif	A	T	18: 75,521,818 (GRCm38)	H212Q	probably benign	Het
Cyp4a29	T	A	4: 115,252,932 (GRCm38)		probably benign	Het
Cytip	T	C	2: 58,148,246 (GRCm38)	N101S	possibly damaging	Het
D130043K22Rik	T	C	13: 24,864,815 (GRCm38)	M434T	probably benign	Het
Ddx47	A	G	6: 135,017,220 (GRCm38)	I154V	possibly damaging	Het
Dnah6	C	T	6: 73,159,115 (GRCm38)	E1014K	probably damaging	Het
Dnajc27	T	G	12: 4,106,793 (GRCm38)		probably benign	Het
Drc7	A	T	8: 95,059,128 (GRCm38)	D204V	probably damaging	Het
Dsc3	A	G	18: 19,981,241 (GRCm38)	Y319H	probably damaging	Het
Eml6	T	C	11: 29,777,441 (GRCm38)	Q1227R	probably benign	Het
Enpp2	A	T	15: 54,877,806 (GRCm38)	D365E	probably benign	Het
Ercc2	T	C	7: 19,386,708 (GRCm38)	I199T	possibly damaging	Het
Exd2	G	A	12: 80,491,240 (GRCm38)		probably benign	Het
F2	A	T	2: 91,633,233 (GRCm38)	I128N	probably damaging	Het
Fam219b	T	C	9: 57,538,876 (GRCm38)	L123P	probably damaging	Het
Fasn	A	G	11: 120,819,936 (GRCm38)	V299A	possibly damaging	Het
Fastkd2	T	C	1: 63,752,400 (GRCm38)	V689A	possibly damaging	Het
Fbxw13	C	T	9: 109,194,721 (GRCm38)	R85Q	probably benign	Het
Fer1l6	A	G	15: 58,590,562 (GRCm38)	Y822C	probably benign	Het
Fhl5	T	C	4: 25,207,241 (GRCm38)	T176A	probably benign	Het
Gm20530	T	G	17: 36,094,226 (GRCm38)		noncoding transcript	Het
Gm4787	A	T	12: 81,378,934 (GRCm38)	I150N	probably damaging	Het
Grip1	G	A	10: 120,075,471 (GRCm38)	S618N	probably benign	Het
Hdac9	T	C	12: 34,374,111 (GRCm38)	K454E	probably damaging	Het
Iars2	T	A	1: 185,287,156 (GRCm38)	I978F	possibly damaging	Het
Icosl	A	G	10: 78,075,322 (GRCm38)	Y299C	probably benign	Het
Idi1	T	C	13: 8,890,357 (GRCm38)	Y192H	probably damaging	Het
Iqub	T	G	6: 24,454,291 (GRCm38)	Q531P	probably damaging	Het
Itih4	T	A	14: 30,890,094 (GRCm38)		probably null	Het
Izumo4	A	T	10: 80,702,936 (GRCm38)	H71L	probably damaging	Het
Jcad	A	T	18: 4,673,325 (GRCm38)	E362D	possibly damaging	Het
Kif21a	G	T	15: 90,976,521 (GRCm38)		probably null	Het
Kynu	A	T	2: 43,679,881 (GRCm38)	I392F	probably damaging	Het
Luc7l2	A	G	6: 38,592,776 (GRCm38)	E223G	probably damaging	Het
Map3k8	A	C	18: 4,339,552 (GRCm38)	L273R	probably damaging	Het
Max	A	G	12: 76,938,587 (GRCm38)	L119P	probably benign	Het
Mphosph9	T	C	5: 124,298,829 (GRCm38)	N484S	probably benign	Het
Mrgprg	A	G	7: 143,765,055 (GRCm38)	Y107H	probably damaging	Het
Mrps31	A	T	8: 22,421,338 (GRCm38)	I199F	probably benign	Het
Mtr	C	G	13: 12,222,154 (GRCm38)		probably null	Het
Muc6	G	A	7: 141,638,400 (GRCm38)	S2120F	possibly damaging	Het
Nptx2	A	G	5: 144,553,650 (GRCm38)		probably benign	Het
Nrip1	T	C	16: 76,292,707 (GRCm38)	Q654R	possibly damaging	Het
Ocm	A	G	5: 144,024,534 (GRCm38)	F30L	probably damaging	Het
Olfr1216	G	A	2: 89,013,288 (GRCm38)	R259W	probably damaging	Het
Olfr1223	A	C	2: 89,144,764 (GRCm38)	Y86*	probably null	Het
Olfr297	C	T	7: 86,526,987 (GRCm38)	P77S	probably damaging	Het
Olfr600	G	T	7: 103,346,711 (GRCm38)	D72E	probably damaging	Het
Oosp1	T	C	19: 11,690,969 (GRCm38)	M17V	probably benign	Het
Pax1	A	T	2: 147,366,147 (GRCm38)	Y225F	probably benign	Het
Pde4dip	T	A	3: 97,843,712 (GRCm38)	H62L	probably benign	Het
Pkd1	C	A	17: 24,585,946 (GRCm38)	Q3190K	probably damaging	Het
Pkn1	A	C	8: 83,683,607 (GRCm38)		probably benign	Het
Plin5	T	C	17: 56,115,597 (GRCm38)	D113G	probably damaging	Het
Ppfia1	A	G	7: 144,482,345 (GRCm38)	V1141A	probably damaging	Het
Ppp4r1	T	A	17: 65,816,006 (GRCm38)	D334E	probably benign	Het
Ptov1	A	T	7: 44,863,449 (GRCm38)		probably null	Het
Rab22a	G	A	2: 173,661,459 (GRCm38)	V22M	probably damaging	Het
Rictor	T	A	15: 6,786,371 (GRCm38)		probably null	Het
Sart1	G	T	19: 5,380,531 (GRCm38)		probably benign	Het
Scn11a	G	A	9: 119,819,862 (GRCm38)	A45V	probably benign	Het
Serpina5	A	G	12: 104,103,200 (GRCm38)	T224A	possibly damaging	Het
Siglecf	G	T	7: 43,352,401 (GRCm38)	G212C	probably damaging	Het
Slc38a4	A	T	15: 97,008,454 (GRCm38)	M378K	probably damaging	Het
Spata22	T	A	11: 73,340,449 (GRCm38)	C176*	probably null	Het
Tmc3	G	A	7: 83,596,139 (GRCm38)	E131K	probably damaging	Het
Trappc10	A	T	10: 78,210,760 (GRCm38)		probably benign	Het
Uvrag	A	G	7: 98,887,973 (GRCm38)	F672L	probably benign	Het
Vmn1r121	A	G	7: 21,098,407 (GRCm38)	V36A	possibly damaging	Het
Vmn1r13	A	T	6: 57,210,626 (GRCm38)	M257L	probably benign	Het
Vmn1r58	C	T	7: 5,410,496 (GRCm38)	C245Y	probably damaging	Het
Vmn1r86	C	A	7: 13,102,780 (GRCm38)	M56I	probably benign	Het
Wdr62	T	C	7: 30,242,874 (GRCm38)	Y1051C	probably benign	Het
Xpnpep3	A	G	15: 81,430,714 (GRCm38)	D205G	probably damaging	Het
Zdhhc14	T	C	17: 5,725,336 (GRCm38)		probably benign	Het
Zfp607a	A	T	7: 27,879,212 (GRCm38)	D569V	possibly damaging	Het
Zfp609	C	T	9: 65,701,188 (GRCm38)	E1137K	possibly damaging	Het
Zfp871	T	C	17: 32,774,434 (GRCm38)	Y589C	probably damaging	Het
Zzef1	A	T	11: 72,880,624 (GRCm38)	D1644V	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
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
R3917: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'- AGGCACCCTTTCCCCAAAGTGTTC -3'
(R):5'- ACACTCGCTCTGAAGCCCTGATAG -3'

Sequencing Primer
(F):5'- CCCAAAGTGTTCAGTTGGTGTAAC -3'
(R):5'- ATCCTGGATAGGACTGTCCTGAC -3'

Posted On

2013-05-23