Mutagenetix > Incidental Mutation

Incidental Mutation 'R1573:Adam19'

170977

Institutional Source

Beutler Lab

Gene Symbol

Adam19

Ensembl Gene

ENSMUSG00000011256

Gene Name

ADAM metallopeptidase domain 19

Synonyms

Mltnb

MMRRC Submission

039612-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1573 (G1)

Quality Score

210

Status

Validated

Chromosome

Chromosomal Location

45946819-46038170 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 46004445 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000011400 (fasta)

Gene Model

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

AlphaFold

O35674

Predicted Effect

probably benign
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

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 94.6%
20x: 87.1%

Validation Efficiency

98% (90/92)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Add1	C	G	5: 34,758,740 (GRCm39)	A18G	possibly damaging	Het
Alk	T	C	17: 72,910,113 (GRCm39)	K198E	possibly damaging	Het
Angptl1	T	A	1: 156,684,740 (GRCm39)	L303Q	possibly damaging	Het
Aox1	A	T	1: 58,348,186 (GRCm39)	I635L	probably benign	Het
Atp5mk	T	A	19: 47,074,634 (GRCm39)	Q9L	possibly damaging	Het
Atp8a2	G	T	14: 60,097,655 (GRCm39)	T791K	probably benign	Het
Auts2	T	C	5: 131,469,325 (GRCm39)	K664R	probably damaging	Het
Birc6	T	A	17: 74,967,685 (GRCm39)		probably benign	Het
Cacna1i	C	A	15: 80,277,869 (GRCm39)		probably null	Het
Cacna2d1	T	C	5: 16,575,625 (GRCm39)	F1077L	probably damaging	Het
Camkk1	C	T	11: 72,918,307 (GRCm39)	R52C	probably damaging	Het
Camkmt	T	A	17: 85,403,958 (GRCm39)	V60E	probably damaging	Het
Car9	G	T	4: 43,512,439 (GRCm39)		probably null	Het
Cbr2	A	T	11: 120,622,791 (GRCm39)	L3Q	possibly damaging	Het
Ccar1	A	T	10: 62,586,434 (GRCm39)	D920E	unknown	Het
Cdc20b	A	G	13: 113,192,478 (GRCm39)	N57S	probably benign	Het
Cep83	G	A	10: 94,624,525 (GRCm39)	E601K	probably damaging	Het
Cldn10	A	T	14: 119,111,080 (GRCm39)	I176L	probably benign	Het
Cpeb2	T	C	5: 43,441,273 (GRCm39)		probably benign	Het
Crb1	A	G	1: 139,265,344 (GRCm39)	S25P	probably damaging	Het
Cyp3a59	A	T	5: 146,039,684 (GRCm39)	Y319F	probably damaging	Het
Dst	C	T	1: 34,240,312 (GRCm39)	S1561F	probably damaging	Het
Dxo	C	T	17: 35,057,270 (GRCm39)	R221C	probably damaging	Het
Dynlt4	A	T	4: 116,985,191 (GRCm39)	T5S	probably benign	Het
Epc2	A	G	2: 49,439,984 (GRCm39)	T801A	possibly damaging	Het
Fndc3a	C	A	14: 72,806,384 (GRCm39)	C373F	probably damaging	Het
Frmpd1	T	C	4: 45,283,932 (GRCm39)	S918P	probably benign	Het
Fuca2	A	G	10: 13,381,587 (GRCm39)	T84A	possibly damaging	Het
Garin4	G	A	1: 190,896,682 (GRCm39)		probably benign	Het
Gmeb1	A	T	4: 131,979,051 (GRCm39)	N21K	probably benign	Het
Htt	T	C	5: 35,021,718 (GRCm39)		probably benign	Het
Igsf1	T	C	X: 48,880,863 (GRCm39)	R251G	possibly damaging	Het
Itih4	A	T	14: 30,619,504 (GRCm39)	H720L	probably benign	Het
Kank4	A	T	4: 98,663,073 (GRCm39)	L705*	probably null	Het
Krt34	A	T	11: 99,931,854 (GRCm39)	S122T	probably benign	Het
L1td1	A	G	4: 98,625,517 (GRCm39)	T571A	probably benign	Het
Lag3	T	C	6: 124,886,210 (GRCm39)	T248A	possibly damaging	Het
Lgi1	T	A	19: 38,272,629 (GRCm39)	H133Q	probably benign	Het
Map1a	A	T	2: 121,134,607 (GRCm39)	T1808S	probably benign	Het
Mcm9	T	C	10: 53,424,752 (GRCm39)	T613A	probably damaging	Het
Meaf6	A	G	4: 124,983,931 (GRCm39)	I111V	probably benign	Het
Mki67	G	A	7: 135,296,845 (GRCm39)	P2730S	possibly damaging	Het
Mlc1	A	C	15: 88,842,350 (GRCm39)	C337G	probably damaging	Het
Mrc2	T	A	11: 105,227,482 (GRCm39)	Y572N	probably damaging	Het
Mterf3	T	C	13: 67,070,967 (GRCm39)	N172S	possibly damaging	Het
Or3a1c	T	A	11: 74,046,196 (GRCm39)	M72K	probably benign	Het
Or4b1	A	T	2: 89,979,068 (GRCm39)		probably benign	Het
Or4c115	T	A	2: 88,928,064 (GRCm39)	D69V	probably damaging	Het
Or5ak4	A	T	2: 85,161,687 (GRCm39)	L185H	probably damaging	Het
Or6c6c	T	C	10: 129,541,487 (GRCm39)	S247P	probably damaging	Het
Padi4	T	G	4: 140,484,881 (GRCm39)	T327P	possibly damaging	Het
Pga5	T	A	19: 10,651,201 (GRCm39)	I151F	probably benign	Het
Pkdrej	G	T	15: 85,702,275 (GRCm39)	D1220E	probably benign	Het
Prokr2	T	A	2: 132,215,684 (GRCm39)	Q259L	probably damaging	Het
Ptbp2	C	A	3: 119,546,754 (GRCm39)	D43Y	probably damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Ralgps2	C	T	1: 156,660,500 (GRCm39)	R237Q	possibly damaging	Het
Rap1gds1	C	A	3: 138,671,624 (GRCm39)		probably null	Het
Saa2	T	A	7: 46,401,716 (GRCm39)	M1K	probably null	Het
Samd9l	T	C	6: 3,375,426 (GRCm39)	I612V	probably damaging	Het
Scn10a	C	T	9: 119,442,692 (GRCm39)	V1518I	probably benign	Het
Serpina6	T	C	12: 103,618,012 (GRCm39)	D267G	probably damaging	Het
Sh2d4b	A	G	14: 40,564,329 (GRCm39)		probably null	Het
Sh3bp2	T	C	5: 34,718,034 (GRCm39)	V505A	probably benign	Het
Smad2	A	G	18: 76,395,657 (GRCm39)	E32G	possibly damaging	Het
Smn1	T	G	13: 100,263,118 (GRCm39)	D32E	probably damaging	Het
Spata31d1c	T	C	13: 65,182,883 (GRCm39)	S142P	possibly damaging	Het
Stk39	A	T	2: 68,221,293 (GRCm39)	I210N	probably damaging	Het
Tcte2	A	G	17: 13,937,899 (GRCm39)		probably benign	Het
Tctn3	C	A	19: 40,597,361 (GRCm39)	E230*	probably null	Het
Tenm2	A	T	11: 35,937,896 (GRCm39)	H1592Q	probably damaging	Het
Tescl	A	G	7: 24,032,668 (GRCm39)	V219A	probably damaging	Het
Tgm6	C	T	2: 129,993,660 (GRCm39)	S633L	probably benign	Het
Tmcc1	C	T	6: 116,110,924 (GRCm39)	S123N	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Ulk2	G	A	11: 61,670,581 (GRCm39)	R992C	probably damaging	Het
Vwa5b1	G	A	4: 138,332,184 (GRCm39)	H278Y	probably damaging	Het
Wwp2	C	T	8: 108,275,121 (GRCm39)	R373W	probably damaging	Het
Zfp24	A	T	18: 24,150,399 (GRCm39)	D170E	possibly damaging	Het
Zfp808	T	C	13: 62,319,311 (GRCm39)	I180T	possibly damaging	Het
Zfp820	T	A	17: 22,037,737 (GRCm39)	Q530H	probably benign	Het
Zfp975	A	T	7: 42,311,507 (GRCm39)	Y369N	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
R0771:Adam19	UTSW	11	46,012,280 (GRCm39)	missense	possibly damaging	0.92
R1052:Adam19	UTSW	11	46,018,092 (GRCm39)	missense	probably damaging	0.99
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'- AACCCGTTGCAGATGGTGATGGTG -3'
(R):5'- CAGTCTAAGCAAAGCCCGTGCTTC -3'

Sequencing Primer
(F):5'- CAGATGGTGATGGTGGGCTG -3'
(R):5'- GCTCAGCCATTAAAGGCTAGG -3'

Posted On

2014-04-13