Mutagenetix > Incidental Mutation

Incidental Mutation 'R1830:Adam19'

207256

Institutional Source

Beutler Lab

Gene Symbol

Adam19

Ensembl Gene

ENSMUSG00000011256

Gene Name

a disintegrin and metallopeptidase domain 19 (meltrin beta)

Synonyms

Mltnb

MMRRC Submission

039857-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1830 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

46055992-46147343 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 46127278 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 389 (N389S)

Ref Sequence

ENSEMBL: ENSMUSP00000011400 (fasta)

Gene Model

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

AlphaFold

O35674

Predicted Effect

probably damaging
Transcript: ENSMUST00000011400
AA Change: N389S

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000011400
Gene: ENSMUSG00000011256
AA Change: N389S

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

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.2%
20x: 92.4%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930017K11Rik	T	C	17: 25,946,717	D532G	possibly damaging	Het
Abca13	T	C	11: 9,290,350	S738P	probably benign	Het
Abi3bp	C	A	16: 56,587,985	P261Q	probably damaging	Het
Adgrv1	A	T	13: 81,489,077	V3415D	possibly damaging	Het
Ankrd33	A	T	15: 101,119,551	I282F	probably damaging	Het
Arhgap39	C	T	15: 76,735,183	V734M	probably damaging	Het
Arsg	T	C	11: 109,563,274		probably null	Het
Atp8b4	C	T	2: 126,403,381	G283R	probably benign	Het
B3galnt2	T	G	13: 13,991,534	L338*	probably null	Het
C87414	A	T	5: 93,637,686	I245K	probably benign	Het
Cdc14a	A	T	3: 116,422,647	Y1*	probably null	Het
Ceacam16	T	C	7: 19,858,878	E35G	possibly damaging	Het
Cfap46	T	A	7: 139,640,407	D1244V	possibly damaging	Het
Chordc1	T	C	9: 18,311,978	Y245H	probably damaging	Het
Col6a6	C	A	9: 105,702,270	V1919F	probably damaging	Het
Colgalt1	T	C	8: 71,623,137	V476A	probably damaging	Het
Cped1	T	C	6: 22,237,728	C948R	probably damaging	Het
Cyfip2	T	C	11: 46,199,019	D1189G	probably damaging	Het
Cyp27b1	T	C	10: 127,049,083	Y72H	possibly damaging	Het
Dagla	A	G	19: 10,271,014	M94T	probably benign	Het
Dip2a	A	G	10: 76,317,963	S178P	probably damaging	Het
Dlec1	T	C	9: 119,138,790	V1220A	probably benign	Het
Dpysl2	T	C	14: 66,868,391		probably benign	Het
E2f6	T	C	12: 16,818,883	V69A	probably benign	Het
Fat3	T	C	9: 15,915,340	T4439A	probably benign	Het
Fn1	T	C	1: 71,624,259	I1023M	probably damaging	Het
Gabrr2	G	A	4: 33,077,481	V83M	probably damaging	Het
Gfral	T	C	9: 76,193,203	N318D	probably benign	Het
Gm5611	A	T	9: 17,030,777		noncoding transcript	Het
Gpat3	A	T	5: 100,893,180	M369L	probably benign	Het
Grik5	T	C	7: 25,046,301	D449G	possibly damaging	Het
Gucy2g	T	A	19: 55,222,930	T623S	possibly damaging	Het
H2-T22	T	C	17: 36,041,542	T164A	probably benign	Het
Herc1	T	A	9: 66,497,599	C4484S	possibly damaging	Het
Hira	T	C	16: 18,947,414	S659P	probably damaging	Het
Hoxa7	T	C	6: 52,217,327	T27A	possibly damaging	Het
Hoxd1	T	C	2: 74,763,522	S141P	probably damaging	Het
Kank1	C	A	19: 25,411,032	Q690K	probably benign	Het
Kera	A	G	10: 97,609,147	K123E	probably benign	Het
Kif1bp	T	C	10: 62,559,327	Y512C	probably damaging	Het
Lepr	A	C	4: 101,735,677	Y163S	probably damaging	Het
Leprotl1	T	C	8: 34,140,768	I29V	probably benign	Het
Lrriq1	T	G	10: 103,161,759	T1332P	probably benign	Het
Mrps15	A	G	4: 126,055,407	K223E	probably damaging	Het
Mrps7	T	A	11: 115,606,985	N225K	probably benign	Het
Nav3	T	A	10: 109,823,323	D811V	probably damaging	Het
Ndst3	T	A	3: 123,548,938	R741S	probably damaging	Het
Nos3	T	C	5: 24,370,133	Y356H	probably damaging	Het
Nxpe3	A	G	16: 55,866,081	V188A	probably damaging	Het
Olfr1057	T	C	2: 86,375,143	K90E	possibly damaging	Het
Olfr469	T	A	7: 107,823,371	I33F	probably benign	Het
Olfr702	T	C	7: 106,824,110	R139G	probably benign	Het
Pdia4	A	T	6: 47,796,761	C551*	probably null	Het
Pex13	A	G	11: 23,655,513	F239S	probably damaging	Het
Pigq	A	G	17: 25,935,006	M273T	probably benign	Het
Plppr2	C	T	9: 21,947,751	P388L	probably damaging	Het
Polr3b	C	T	10: 84,692,922	Q737*	probably null	Het
Ppfibp1	T	C	6: 147,022,259		probably null	Het
Ppfibp2	C	A	7: 107,637,297	D17E	probably damaging	Het
Ptpn13	A	G	5: 103,543,459	D1064G	probably benign	Het
Qtrt2	A	T	16: 43,871,655	S168T	probably damaging	Het
Rbp3	T	C	14: 33,954,644	V183A	probably benign	Het
Shprh	T	C	10: 11,186,911		probably null	Het
Slc39a10	T	C	1: 46,836,070	H24R	probably damaging	Het
Slc7a13	A	T	4: 19,819,046	H82L	probably benign	Het
Sptbn2	A	G	19: 4,732,541	I502V	probably benign	Het
Syne2	C	T	12: 76,109,862	R6811C	probably damaging	Het
Syt12	A	G	19: 4,456,883	V78A	probably benign	Het
Tbck	T	A	3: 132,838,011	D874E	probably benign	Het
Tesc	A	T	5: 118,046,329	I25L	probably damaging	Het
Thoc5	T	G	11: 4,914,608	D351E	probably benign	Het
Tor1aip1	A	T	1: 156,007,562	M180K	probably damaging	Het
Trps1	T	C	15: 50,661,136	S842G	probably damaging	Het
Unc79	A	T	12: 103,134,478	T1858S	probably damaging	Het
Vmn1r193	T	C	13: 22,219,391	T144A	probably benign	Het
Vwa8	T	C	14: 79,081,136	F1046S	probably benign	Het
Wdr26	A	T	1: 181,191,775	W346R	probably damaging	Het
Zfp740	T	A	15: 102,207,901	V22E	probably damaging	Het
Zw10	C	A	9: 49,069,741	S480R	probably damaging	Het

Other mutations in Adam19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01433:Adam19	APN	11	46112783	missense	probably damaging	1.00
IGL01727:Adam19	APN	11	46121553	missense	probably benign
IGL01758:Adam19	APN	11	46112924	missense	probably benign	0.01
IGL02160:Adam19	APN	11	46139695	missense	probably damaging	0.99
IGL02421:Adam19	APN	11	46137553	missense	probably damaging	0.96
IGL02572:Adam19	APN	11	46131721	nonsense	probably null
IGL02995:Adam19	APN	11	46136349	missense	probably benign	0.00
IGL03171:Adam19	APN	11	46138854	missense	probably damaging	0.98
IGL03237:Adam19	APN	11	46137556	missense	probably benign
R0003:Adam19	UTSW	11	46128789	missense	probably damaging	1.00
R0026:Adam19	UTSW	11	46136259	missense	probably damaging	1.00
R0158:Adam19	UTSW	11	46143034	missense	probably damaging	1.00
R0304:Adam19	UTSW	11	46127392	missense	possibly damaging	0.91
R0488:Adam19	UTSW	11	46138930	missense	probably damaging	0.98
R0501:Adam19	UTSW	11	46123130	missense	probably damaging	1.00
R0591:Adam19	UTSW	11	46121411	splice site	probably benign
R0734:Adam19	UTSW	11	46127403	missense	probably damaging	0.99
R0747:Adam19	UTSW	11	46118495	splice site	probably null
R0771:Adam19	UTSW	11	46121453	missense	possibly damaging	0.92
R1052:Adam19	UTSW	11	46127265	missense	probably damaging	0.99
R1573:Adam19	UTSW	11	46113618	splice site	probably benign
R1735:Adam19	UTSW	11	46138917	missense	probably benign	0.26
R1911:Adam19	UTSW	11	46121454	missense	probably damaging	1.00
R2092:Adam19	UTSW	11	46060904	splice site	probably null
R3749:Adam19	UTSW	11	46137610	missense	probably benign	0.00
R3893:Adam19	UTSW	11	46128838	missense	probably damaging	1.00
R3916:Adam19	UTSW	11	46060935	missense	probably benign	0.25
R3917:Adam19	UTSW	11	46060935	missense	probably benign	0.25
R4506:Adam19	UTSW	11	46118444	missense	possibly damaging	0.67
R4767:Adam19	UTSW	11	46138977	critical splice donor site	probably null
R5055:Adam19	UTSW	11	46123169	missense	probably damaging	1.00
R5313:Adam19	UTSW	11	46131776	missense	probably damaging	1.00
R5329:Adam19	UTSW	11	46125026	missense	probably damaging	0.99
R5567:Adam19	UTSW	11	46136250	missense	probably damaging	1.00
R5602:Adam19	UTSW	11	46136315	missense	probably benign
R6198:Adam19	UTSW	11	46121502	missense	probably damaging	1.00
R6875:Adam19	UTSW	11	46112875	missense	probably benign
R7011:Adam19	UTSW	11	46143018	missense	probably benign	0.00
R7163:Adam19	UTSW	11	46131717	missense	probably benign
R7213:Adam19	UTSW	11	46121471	missense	probably benign	0.20
R7267:Adam19	UTSW	11	46121576	nonsense	probably null
R7896:Adam19	UTSW	11	46137543	missense	probably damaging	1.00
R8012:Adam19	UTSW	11	46065046	missense	possibly damaging	0.74
R8059:Adam19	UTSW	11	46136466	splice site	probably benign
R8243:Adam19	UTSW	11	46125082	missense	probably damaging	1.00
R8357:Adam19	UTSW	11	46140112	missense	probably damaging	0.96
R8419:Adam19	UTSW	11	46125023	missense	possibly damaging	0.77
R8457:Adam19	UTSW	11	46140112	missense	probably damaging	0.96
R9163:Adam19	UTSW	11	46127349	missense	probably benign	0.02
R9349:Adam19	UTSW	11	46131743	nonsense	probably null
R9489:Adam19	UTSW	11	46137622	missense	probably benign	0.10
X0067:Adam19	UTSW	11	46056115	start codon destroyed	probably null	0.06

Predicted Primers

PCR Primer
(F):5'- CATCTCATGGTTCAGGGTGAAAG -3'
(R):5'- AGACAATACAGATTCGTCCCTC -3'

Sequencing Primer
(F):5'- CTCATGGTTCAGGGTGAAAGAATTC -3'
(R):5'- AGATTCGTCCCTCTCTCTAGTAAGG -3'

Posted On

2014-06-23