Mutagenetix > Incidental Mutation

Incidental Mutation 'R9641:Adam19'

726004

Institutional Source

Beutler Lab

Gene Symbol

Adam19

Ensembl Gene

ENSMUSG00000011256

Gene Name

ADAM metallopeptidase domain 19

Synonyms

Mltnb

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9641 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

45946819-46038170 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 46027149 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 594 (D594V)

Ref Sequence

ENSEMBL: ENSMUSP00000011400 (fasta)

Gene Model

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

AlphaFold

O35674

Predicted Effect

probably damaging
Transcript: ENSMUST00000011400
AA Change: D594V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000011400
Gene: ENSMUSG00000011256
AA Change: D594V

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: 100.0%
3x: 99.9%
10x: 99.8%
20x: 99.3%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	T	C	10: 100,430,498 (GRCm39)	F52L	possibly damaging	Het
Abca16	T	C	7: 120,126,308 (GRCm39)	C1156R	possibly damaging	Het
Abcg3	A	C	5: 105,084,483 (GRCm39)	S571A	probably benign	Het
Abi3	C	A	11: 95,724,503 (GRCm39)	L259F	unknown	Het
Adam34	C	T	8: 44,104,076 (GRCm39)	S523N	probably damaging	Het
Adam6b	G	T	12: 113,454,176 (GRCm39)	C331F	probably benign	Het
Adamts14	A	T	10: 61,106,829 (GRCm39)	V97E	probably damaging	Het
Adipor1	T	C	1: 134,355,878 (GRCm39)	Y226H	probably damaging	Het
Alox12e	T	C	11: 70,212,261 (GRCm39)	Y139C	probably damaging	Het
Ankrd53	A	G	6: 83,740,692 (GRCm39)	D160G	possibly damaging	Het
Ap1m1	A	T	8: 73,003,606 (GRCm39)	Y94F	probably damaging	Het
Arhgef28	A	C	13: 98,078,983 (GRCm39)	D1314E	probably benign	Het
Bicc1	A	G	10: 70,863,772 (GRCm39)	I90T	probably benign	Het
Celf6	A	G	9: 59,485,833 (GRCm39)	D58G	probably damaging	Het
Cfap74	T	C	4: 155,549,054 (GRCm39)	S38P	unknown	Het
Cps1	A	G	1: 67,234,342 (GRCm39)	I910V	probably benign	Het
Cracdl	C	T	1: 37,663,592 (GRCm39)	A769T	possibly damaging	Het
Crybg2	C	T	4: 133,816,620 (GRCm39)	Q1353*	probably null	Het
Cyp4f39	T	C	17: 32,705,982 (GRCm39)	Y358H	probably damaging	Het
Dcp1a	T	A	14: 30,241,132 (GRCm39)	I314N	probably damaging	Het
Dgki	A	C	6: 37,126,489 (GRCm39)	W164G	probably damaging	Het
Dnah8	A	G	17: 30,932,029 (GRCm39)	I1466V	probably benign	Het
Efcab6	T	A	15: 83,763,676 (GRCm39)	R1219W	probably damaging	Het
Faap24	A	T	7: 35,094,494 (GRCm39)	F102Y	probably damaging	Het
Fam186a	T	C	15: 99,838,244 (GRCm39)	T2667A	probably benign	Het
Frem1	C	T	4: 82,877,653 (GRCm39)	G1308D	probably damaging	Het
Hectd1	T	C	12: 51,816,047 (GRCm39)	T1347A	probably benign	Het
Hipk3	A	T	2: 104,267,376 (GRCm39)	H620Q	probably benign	Het
Hpd	A	G	5: 123,310,052 (GRCm39)	S391P	probably benign	Het
Ino80	A	G	2: 119,275,965 (GRCm39)	V437A	probably benign	Het
Itgax	G	T	7: 127,741,152 (GRCm39)	G785C	probably damaging	Het
Kcnk18	C	T	19: 59,223,266 (GRCm39)	T137I	probably damaging	Het
Kif16b	A	G	2: 142,542,589 (GRCm39)	F236L	probably benign	Het
Lamb1	T	C	12: 31,337,457 (GRCm39)	M396T	probably damaging	Het
Lrfn5	C	A	12: 61,886,540 (GRCm39)	N109K	probably damaging	Het
Lrrc15	T	A	16: 30,093,006 (GRCm39)	N111I	probably damaging	Het
Lrrk2	A	T	15: 91,671,251 (GRCm39)	I2011F	possibly damaging	Het
Lsr	A	G	7: 30,658,285 (GRCm39)	I336T	probably damaging	Het
Mettl21e	T	A	1: 44,250,351 (GRCm39)	R18S	probably benign	Het
Mrpl22	T	C	11: 58,068,047 (GRCm39)	L115P	probably damaging	Het
N4bp2	T	A	5: 65,948,035 (GRCm39)	S222T	probably benign	Het
Nat2	A	G	8: 67,954,522 (GRCm39)	T211A	probably benign	Het
Nbeal1	T	A	1: 60,350,247 (GRCm39)	I2432N	probably damaging	Het
Neb	A	G	2: 52,112,783 (GRCm39)	I1158T		Het
Nrip3	C	T	7: 109,362,793 (GRCm39)	E164K	probably damaging	Het
Obox6	G	A	7: 15,568,742 (GRCm39)	Q45*	probably null	Het
Ola1	T	C	2: 73,033,784 (GRCm39)	N44D	probably benign	Het
Or1x6	C	T	11: 50,939,207 (GRCm39)	T91M	probably benign	Het
Or2y1c	T	C	11: 49,361,509 (GRCm39)	F177S	probably damaging	Het
Or5b111	A	T	19: 13,291,100 (GRCm39)	M183K	probably damaging	Het
Or5d39	A	T	2: 87,980,255 (GRCm39)	I36N	possibly damaging	Het
Or5p81	A	T	7: 108,267,516 (GRCm39)	N298Y	probably damaging	Het
Or6ae1	A	G	7: 139,742,771 (GRCm39)	F31L	probably benign	Het
Or8b51	T	A	9: 38,568,915 (GRCm39)	M258L	probably benign	Het
Pde10a	A	G	17: 9,197,816 (GRCm39)	K753R		Het
Phldb1	T	C	9: 44,627,839 (GRCm39)	D202G	probably damaging	Het
Pik3cb	T	C	9: 98,955,789 (GRCm39)	N376S	probably benign	Het
Plekhh2	A	G	17: 84,874,130 (GRCm39)	N472D	probably damaging	Het
Ppp4r4	T	A	12: 103,567,811 (GRCm39)	F708Y	probably benign	Het
Rnf157	A	G	11: 116,303,576 (GRCm39)	V12A	probably benign	Het
Saa3	T	C	7: 46,364,494 (GRCm39)	I11V	probably benign	Het
Sall2	T	C	14: 52,550,882 (GRCm39)	E771G	probably damaging	Het
Sar1b	C	T	11: 51,670,573 (GRCm39)	T39I	probably damaging	Het
Scn10a	A	T	9: 119,445,869 (GRCm39)	L1428Q	possibly damaging	Het
Sema3f	A	G	9: 107,565,454 (GRCm39)	I213T	unknown	Het
Serpina3m	C	T	12: 104,360,085 (GRCm39)	Q386*	probably null	Het
Sh3gl3	G	A	7: 81,909,370 (GRCm39)	G26R	probably damaging	Het
Shq1	T	C	6: 100,550,633 (GRCm39)	E435G	probably damaging	Het
Sidt2	G	T	9: 45,864,495 (GRCm39)	A78E	probably benign	Het
Sin3b	A	G	8: 73,477,187 (GRCm39)	Y818C	probably damaging	Het
Smarca2	C	T	19: 26,656,498 (GRCm39)	L825F	possibly damaging	Het
Srgn	T	A	10: 62,330,884 (GRCm39)	M74L	probably benign	Het
Tbc1d22b	A	C	17: 29,813,747 (GRCm39)	D360A	possibly damaging	Het
Tbx4	A	G	11: 85,803,128 (GRCm39)	R335G	probably damaging	Het
Tmem144	T	C	3: 79,734,200 (GRCm39)	N168D	probably benign	Het
Trip11	G	A	12: 101,859,957 (GRCm39)	Q307*	probably null	Het
Ttyh2	T	C	11: 114,598,516 (GRCm39)	Y296H	probably damaging	Het
Vmn1r236	G	T	17: 21,507,043 (GRCm39)	V54F	probably benign	Het
Xrra1	A	C	7: 99,561,088 (GRCm39)	H443P	probably benign	Het
Zc3h12a	T	C	4: 125,014,852 (GRCm39)	T211A	probably damaging	Het
Zfp386	T	G	12: 116,023,330 (GRCm39)	D349E	probably benign	Het
Zkscan16	T	A	4: 58,956,577 (GRCm39)	H286Q	probably benign	Het
Znrf2	C	T	6: 54,861,788 (GRCm39)	P233L	probably damaging	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
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
X0067:Adam19	UTSW	11	45,946,942 (GRCm39)	start codon destroyed	probably null	0.06

Predicted Primers

PCR Primer
(F):5'- AGGAACCTGCCCCTTTTCTG -3'
(R):5'- ATTCTGAGAGCTGGGCATCAC -3'

Sequencing Primer
(F):5'- TCTACTGCCGGGTTCCAG -3'
(R):5'- AGAGCTGGGCATCACTCCTC -3'

Posted On

2022-09-12