Incidental Mutation 'IGL01727:Adam19'
ID105324
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adam19
Ensembl Gene ENSMUSG00000011256
Gene Namea disintegrin and metallopeptidase domain 19 (meltrin beta)
SynonymsMltnb
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01727
Quality Score
Status
Chromosome11
Chromosomal Location46055992-46147343 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 46121553 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Valine at position 292 (A292V)
Ref Sequence ENSEMBL: ENSMUSP00000011400 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000011400]
Predicted Effect probably benign
Transcript: ENSMUST00000011400
AA Change: A292V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000011400
Gene: ENSMUSG00000011256
AA Change: A292V

DomainStartEndE-ValueType
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
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd26 A G 6: 118,511,636 L1354P probably damaging Het
Aox1 T A 1: 58,073,228 C720* probably null Het
Aqp5 T C 15: 99,591,621 L117P probably damaging Het
BC005561 A G 5: 104,519,513 T634A probably benign Het
Col9a3 T C 2: 180,616,565 probably null Het
Ctrc T C 4: 141,843,761 Y56C probably damaging Het
Dsc2 T A 18: 20,038,200 T581S probably benign Het
Grap2 T C 15: 80,634,409 I51T probably damaging Het
Herc2 A G 7: 56,137,806 Y1737C probably damaging Het
Hook3 A G 8: 26,070,159 M346T probably benign Het
Lancl1 C T 1: 67,020,942 C108Y probably damaging Het
Lpin2 T C 17: 71,246,452 C824R probably damaging Het
Mlip T C 9: 77,239,748 S88G probably damaging Het
Mtdh T G 15: 34,083,109 L25R probably damaging Het
Musk A G 4: 58,303,887 I177V probably benign Het
Nov G A 15: 54,746,238 A45T probably benign Het
Olfr1148 T C 2: 87,833,500 S154P probably damaging Het
Olfr1186 A G 2: 88,525,927 M115V probably benign Het
Olfr1504 A G 19: 13,887,878 C111R probably damaging Het
Pabpc4l C A 3: 46,446,665 E181D probably damaging Het
Pcdh18 A G 3: 49,755,700 S389P probably damaging Het
Ptk7 A G 17: 46,572,548 Y864H probably damaging Het
Rbp4 A G 19: 38,124,052 V155A probably benign Het
Rilpl1 C T 5: 124,530,944 A14T possibly damaging Het
Rnf148 T A 6: 23,655,002 probably benign Het
Rnf219 G A 14: 104,479,387 R517* probably null Het
Ska2 T A 11: 87,116,147 L26Q probably damaging Het
Slc29a2 T A 19: 5,026,458 F125I probably damaging Het
Smap2 A G 4: 120,982,208 probably benign Het
St6galnac2 C T 11: 116,685,119 D169N probably damaging Het
Supt7l A G 5: 31,520,342 V160A possibly damaging Het
Susd1 A G 4: 59,412,329 probably benign Het
Syne1 T C 10: 5,047,842 D375G probably damaging Het
Tpst2 G A 5: 112,309,858 D351N probably damaging Het
Trcg1 T C 9: 57,242,273 I376T probably benign Het
Trcg1 T A 9: 57,242,594 I483N probably damaging Het
Tsga10 T C 1: 37,835,274 E148G probably damaging Het
Zranb1 G T 7: 132,966,620 D336Y probably damaging Het
Other mutations in Adam19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01433:Adam19 APN 11 46112783 missense probably damaging 1.00
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 intron 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
X0067:Adam19 UTSW 11 46056115 start codon destroyed probably null 0.06
Posted On2014-01-21