Incidental Mutation 'IGL02421:Adam19'
ID 292674
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adam19
Ensembl Gene ENSMUSG00000011256
Gene Name ADAM metallopeptidase domain 19
Synonyms Mltnb
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02421
Quality Score
Status
Chromosome 11
Chromosomal Location 45946819-46038170 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 46028380 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 671 (N671S)
Ref Sequence ENSEMBL: ENSMUSP00000011400 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000011400]
AlphaFold O35674
Predicted Effect probably damaging
Transcript: ENSMUST00000011400
AA Change: N671S

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000011400
Gene: ENSMUSG00000011256
AA Change: N671S

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: 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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
a T C 2: 154,892,672 (GRCm39) F117S probably damaging Het
A930011G23Rik A G 5: 99,377,236 (GRCm39) S404P probably damaging Het
A930011G23Rik G A 5: 99,377,241 (GRCm39) P402L probably damaging Het
Acacb A G 5: 114,361,939 (GRCm39) T1394A probably benign Het
Akap13 A T 7: 75,367,554 (GRCm39) N1815I possibly damaging Het
Aloxe3 A G 11: 69,020,872 (GRCm39) D199G possibly damaging Het
Ap1g2 G A 14: 55,339,859 (GRCm39) A440V probably damaging Het
Bmt2 G T 6: 13,628,841 (GRCm39) Q281K probably damaging Het
Celsr3 T C 9: 108,717,662 (GRCm39) F2243L probably damaging Het
Cenpb G A 2: 131,021,601 (GRCm39) R66C probably damaging Het
Chl1 A T 6: 103,694,541 (GRCm39) H1121L probably damaging Het
Cpb1 T C 3: 20,306,148 (GRCm39) Y344C probably damaging Het
Cspg5 T A 9: 110,076,460 (GRCm39) probably benign Het
Dnah11 T C 12: 118,150,637 (GRCm39) N374D probably damaging Het
Dnah3 A G 7: 119,550,215 (GRCm39) V3368A possibly damaging Het
Eml4 T C 17: 83,785,321 (GRCm39) S829P probably benign Het
Got2-ps1 T C 5: 138,362,811 (GRCm39) noncoding transcript Het
Hal T C 10: 93,339,335 (GRCm39) C475R probably damaging Het
Mapkbp1 C T 2: 119,850,136 (GRCm39) P806S possibly damaging Het
Mmrn1 A T 6: 60,921,806 (GRCm39) T88S probably benign Het
Napsa A G 7: 44,234,479 (GRCm39) H237R probably damaging Het
Opn5 C T 17: 42,907,446 (GRCm39) probably benign Het
Or1d2 T C 11: 74,256,017 (GRCm39) I174T probably damaging Het
Or4c110 T C 2: 88,831,688 (GRCm39) probably null Het
Or51f2 T C 7: 102,526,966 (GRCm39) I213T probably damaging Het
Or56b2 A G 7: 104,337,740 (GRCm39) N173D probably benign Het
Pira12 T C 7: 3,899,994 (GRCm39) N203D possibly damaging Het
Polb C T 8: 23,130,389 (GRCm39) G179D probably damaging Het
Primpol G T 8: 47,060,830 (GRCm39) probably benign Het
Prom2 T A 2: 127,373,802 (GRCm39) probably null Het
Psmb10 A G 8: 106,664,124 (GRCm39) probably null Het
Ranbp2 T G 10: 58,316,376 (GRCm39) S2365R probably damaging Het
Sgce G A 6: 4,694,187 (GRCm39) probably benign Het
Slc25a34 A G 4: 141,348,753 (GRCm39) V237A probably benign Het
Slc39a2 A T 14: 52,131,329 (GRCm39) T25S probably benign Het
Smarca4 T C 9: 21,550,535 (GRCm39) C423R probably damaging Het
Stt3b G A 9: 115,080,920 (GRCm39) probably benign Het
Tbl1xr1 A T 3: 22,257,327 (GRCm39) I397F probably damaging Het
Tie1 A G 4: 118,343,591 (GRCm39) V117A probably damaging Het
Tmc3 T C 7: 83,271,952 (GRCm39) F1035L probably benign Het
Trhde T A 10: 114,248,366 (GRCm39) K944N probably damaging Het
Vmn1r54 G A 6: 90,246,133 (GRCm39) A16T probably benign Het
Washc4 T A 10: 83,415,414 (GRCm39) N801K probably damaging Het
Xylt2 A G 11: 94,558,588 (GRCm39) Y523H possibly damaging Het
Znfx1 T C 2: 166,902,000 (GRCm39) R5G probably damaging Het
Other mutations in Adam19
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R9641:Adam19 UTSW 11 46,027,149 (GRCm39) missense probably damaging 1.00
X0067:Adam19 UTSW 11 45,946,942 (GRCm39) start codon destroyed probably null 0.06
Posted On 2015-04-16