Mutagenetix > Incidental Mutation

Incidental Mutation 'R7213:Adam19'

561230

Institutional Source

Beutler Lab

Gene Symbol

Adam19

Ensembl Gene

ENSMUSG00000011256

Gene Name

a disintegrin and metallopeptidase domain 19 (meltrin beta)

Synonyms

Mltnb

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7213 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

46055992-46147343 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 46121471 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 265 (T265S)

Ref Sequence

ENSEMBL: ENSMUSP00000011400 (fasta)

Gene Model

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

AlphaFold

O35674

Predicted Effect

probably benign
Transcript: ENSMUST00000011400
AA Change: T265S

PolyPhen 2 Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000011400
Gene: ENSMUSG00000011256
AA Change: T265S

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

Meta Mutation Damage Score

0.2910

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (80/81)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	G	T	9: 124,293,900	Y131*	probably null	Het
2310009B15Rik	A	T	1: 138,853,629	V94D	probably damaging	Het
Actr1b	T	A	1: 36,702,140	N120I	probably damaging	Het
Adam17	A	T	12: 21,336,678	Y452*	probably null	Het
Adgrb1	A	G	15: 74,569,884	T945A	probably benign	Het
BC067074	T	A	13: 113,317,941	F174I		Het
Bpifa5	G	A	2: 154,165,983	V182M	possibly damaging	Het
Celsr3	C	T	9: 108,849,040	T3156I	probably damaging	Het
Cntrl	A	G	2: 35,135,680	M674V	possibly damaging	Het
Cry2	C	T	2: 92,413,659	V390I	probably benign	Het
Cwc25	G	T	11: 97,754,029	Q168K	probably benign	Het
Dcbld2	C	T	16: 58,450,763	A301V	probably benign	Het
Dclre1a	T	C	19: 56,529,635	Y1004C	probably damaging	Het
Ddhd1	A	C	14: 45,657,753	S87A	probably benign	Het
Ear1	A	G	14: 43,819,154	C86R	probably damaging	Het
Epha5	T	C	5: 84,233,923		probably null	Het
Fat2	A	T	11: 55,281,045	Y2947*	probably null	Het
Fat4	G	A	3: 38,999,087	V4077M	possibly damaging	Het
Fbxl12	A	T	9: 20,639,008	V140E	probably damaging	Het
Fbxo16	A	G	14: 65,299,419		probably null	Het
Fto	A	T	8: 91,391,507	Q29L	probably benign	Het
Gk5	C	T	9: 96,145,712	T200M	probably damaging	Het
Gm5916	C	T	9: 36,128,650	G14E	possibly damaging	Het
Gm9972	A	T	11: 43,036,408		probably benign	Het
Gpr139	T	A	7: 119,145,099	M88L	probably benign	Het
Gpr26	T	C	7: 131,967,490	L188P	probably damaging	Het
Hbp1	A	T	12: 31,937,197	S219T	probably benign	Het
Hist1h2ab	G	T	13: 23,751,163	A11S	unknown	Het
Hr	A	T	14: 70,558,350	E445V	probably damaging	Het
Il12rb1	A	G	8: 70,816,453	K426E	probably benign	Het
Itgbl1	G	A	14: 123,973,297	C469Y	probably damaging	Het
Kdm2b	A	T	5: 122,921,469	N523K	probably damaging	Het
Kptn	A	G	7: 16,120,779	N125S	possibly damaging	Het
Krt17	T	C	11: 100,258,530	N238S	probably benign	Het
Lemd3	G	A	10: 120,978,240	R363*	probably null	Het
Mmrn1	G	A	6: 60,944,543		probably benign	Het
Mtus1	T	C	8: 41,084,487	D64G	probably damaging	Het
Muc16	A	G	9: 18,641,416	V4527A	probably benign	Het
Naip2	T	A	13: 100,187,483	D193V	probably damaging	Het
Nbeal1	G	C	1: 60,237,151	V684L	probably benign	Het
Nf1	A	G	11: 79,469,819	H1462R	probably benign	Het
Olfr133	T	C	17: 38,149,074	V162A	probably benign	Het
Olfr988	A	T	2: 85,353,556	Y123*	probably null	Het
Pappa2	T	A	1: 158,936,886	T352S	possibly damaging	Het
Pcnt	A	G	10: 76,408,904	L1114P	probably damaging	Het
Pde6b	T	C	5: 108,404,090	Y212H	probably damaging	Het
Pik3c2g	A	T	6: 139,860,264	I604F		Het
Pld2	A	G	11: 70,553,372	D498G	probably benign	Het
Prag1	A	T	8: 36,146,615	Q1107L	probably damaging	Het
Pwp1	A	T	10: 85,876,309	I110F	probably benign	Het
Rims4	C	T	2: 163,864,061	V218I	probably benign	Het
Rnf10	C	T	5: 115,242,473	S754N	probably damaging	Het
Rnf10	T	C	5: 115,242,474	S754G	probably damaging	Het
Sel1l2	A	T	2: 140,244,135	V512E	probably damaging	Het
Shank2	T	A	7: 144,031,409	M49K	probably benign	Het
Sipa1	T	C	19: 5,660,523	D153G	probably damaging	Het
Slc46a2	C	T	4: 59,914,279	V215I	possibly damaging	Het
Slco6c1	G	A	1: 97,127,946	L77F	probably benign	Het
Smarca2	T	C	19: 26,647,131	L397P	possibly damaging	Het
Spg7	C	T	8: 123,090,232	A554V	probably damaging	Het
Stab1	T	A	14: 31,143,673	M1753L	probably benign	Het
Stk11	A	G	10: 80,116,618	M1V	probably null	Het
Supt6	C	A	11: 78,232,150	G136C	probably damaging	Het
Svil	G	T	18: 5,094,574	R1418L	probably damaging	Het
Tfg	A	G	16: 56,701,153	S167P	probably benign	Het
Timeless	T	C	10: 128,243,289	V335A	probably benign	Het
Tll2	C	A	19: 41,120,227	R328L	probably damaging	Het
Tomm7	T	C	5: 23,844,061	S5G	possibly damaging	Het
Ttc39c	G	A	18: 12,687,081		probably null	Het
Ttn	T	C	2: 76,725,761	E30300G	probably benign	Het
Tuba4a	A	T	1: 75,215,697	D452E	possibly damaging	Het
Tubgcp2	T	C	7: 140,008,014	I233V	probably benign	Het
Tubgcp5	T	A	7: 55,806,112	V296E	probably damaging	Het
Vmn2r53	T	C	7: 12,601,056	S226G	probably benign	Het
Xrcc6	T	C	15: 82,016,826		probably benign	Het
Zfhx4	C	A	3: 5,396,644	D1192E	probably benign	Het
Zfp180	G	T	7: 24,104,513	W119L	possibly damaging	Het
Zfp3	A	G	11: 70,772,525	I437V	probably benign	Het
Zfp616	A	T	11: 74,085,863	Q986L	probably benign	Het
Zfp937	T	A	2: 150,239,465	C472S	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
R1830:Adam19	UTSW	11	46127278	missense	probably damaging	0.98
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
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
R9579:Adam19	UTSW	11	46118435	missense	not run
X0067:Adam19	UTSW	11	46056115	start codon destroyed	probably null	0.06

Predicted Primers

PCR Primer
(F):5'- GTTTGACCACCAGAATGCATCC -3'
(R):5'- ACATTGGCCCCTGTGAAAGG -3'

Sequencing Primer
(F):5'- AGAATGCATCCCTCTGAAGGTCG -3'
(R):5'- GTGAATTTCGCACCCCTTACGG -3'

Posted On

2019-06-26