Incidental Mutation 'IGL03171:Adam19'
ID411830
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 #IGL03171
Quality Score
Status
Chromosome11
Chromosomal Location46055992-46147343 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 46138854 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Serine at position 709 (A709S)
Ref Sequence ENSEMBL: ENSMUSP00000011400 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000011400]
Predicted Effect probably damaging
Transcript: ENSMUST00000011400
AA Change: A709S

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000011400
Gene: ENSMUSG00000011256
AA Change: A709S

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144915
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151565
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153410
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003E16Rik T A 6: 83,162,395 F434Y possibly damaging Het
Adgrf3 A T 5: 30,196,294 L42Q probably damaging Het
D430041D05Rik T C 2: 104,241,163 N1264S possibly damaging Het
Dnah9 T G 11: 65,981,241 K2721T probably benign Het
Efr3b C T 12: 3,968,622 A575T probably benign Het
Esco1 T C 18: 10,594,263 E341G probably damaging Het
Ezh2 G A 6: 47,540,781 R574* probably null Het
Fam169a G T 13: 97,110,014 probably benign Het
Fry T C 5: 150,380,809 Y555H probably damaging Het
Gm17175 A C 14: 51,571,608 S100R probably damaging Het
Gm4778 C A 3: 94,266,455 H257N probably benign Het
Gm527 T C 12: 64,921,157 Y118H probably damaging Het
Gm8765 T A 13: 50,702,352 S675R probably benign Het
H2-M10.4 G T 17: 36,461,250 T202N probably damaging Het
Igf1 A T 10: 87,864,821 T36S probably damaging Het
Ints8 C T 4: 11,231,702 V428I probably benign Het
Itga6 G A 2: 71,841,329 probably null Het
Jmjd1c A G 10: 67,225,498 E1210G possibly damaging Het
Kdm2a A T 19: 4,356,764 V134E probably damaging Het
Limch1 C A 5: 67,034,194 N947K possibly damaging Het
Met T C 6: 17,562,273 probably benign Het
Neb A G 2: 52,216,364 probably benign Het
Ogg1 A G 6: 113,333,414 I274V possibly damaging Het
Ola1 A T 2: 73,156,853 I145K probably benign Het
Olfr458 G A 6: 42,460,530 T163I possibly damaging Het
Pacrg A G 17: 10,576,533 V166A possibly damaging Het
Pira2 T A 7: 3,842,605 E260V probably damaging Het
Prickle3 T C X: 7,665,287 C277R probably damaging Het
Psen1 A G 12: 83,714,864 T147A probably damaging Het
Pxk C T 14: 8,151,014 probably benign Het
Scn11a G A 9: 119,819,847 P50L probably benign Het
Scn4a C A 11: 106,345,592 V281L probably benign Het
Shcbp1 A G 8: 4,739,166 I551T probably benign Het
Snx13 T A 12: 35,100,540 I281N probably benign Het
Tdo2 T C 3: 81,967,029 K209E probably benign Het
Trip6 C T 5: 137,312,884 R190Q probably benign Het
Ttc30a1 C T 2: 75,980,507 A411T probably benign Het
Ubqln1 T A 13: 58,180,858 E426D probably damaging Het
Zfp607b C A 7: 27,693,595 N49K possibly damaging Het
Other mutations in Adam19
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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
X0067:Adam19 UTSW 11 46056115 start codon destroyed probably null 0.06
Posted On2016-08-02