Incidental Mutation 'IGL02397:Adam12'
ID291738
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adam12
Ensembl Gene ENSMUSG00000054555
Gene Namea disintegrin and metallopeptidase domain 12 (meltrin alpha)
SynonymsMltna, ADAM12
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.228) question?
Stock #IGL02397
Quality Score
Status
Chromosome7
Chromosomal Location133883199-134232146 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to A at 133909819 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000114874 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067680] [ENSMUST00000138363]
Predicted Effect probably benign
Transcript: ENSMUST00000067680
SMART Domains Protein: ENSMUSP00000065213
Gene: ENSMUSG00000054555

DomainStartEndE-ValueType
signal peptide 1 31 N/A INTRINSIC
Pfam:Pep_M12B_propep 35 165 1.1e-27 PFAM
Pfam:Reprolysin_5 210 392 2.1e-24 PFAM
Pfam:Reprolysin_4 210 408 3.8e-16 PFAM
Pfam:Reprolysin 212 414 1.4e-74 PFAM
Pfam:Reprolysin_2 232 404 6e-18 PFAM
Pfam:Reprolysin_3 236 359 1.3e-16 PFAM
DISIN 431 506 4.29e-42 SMART
ACR 507 650 1.75e-67 SMART
transmembrane domain 705 727 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000138363
SMART Domains Protein: ENSMUSP00000114874
Gene: ENSMUSG00000054555

DomainStartEndE-ValueType
Pfam:Reprolysin 4 92 4.5e-24 PFAM
Pfam:Reprolysin_2 6 82 2.1e-11 PFAM
Pfam:Reprolysin_5 9 70 2.8e-11 PFAM
Pfam:Reprolysin_4 11 87 8.9e-8 PFAM
DISIN 109 184 4.29e-42 SMART
ACR 185 328 1.75e-67 SMART
transmembrane domain 383 405 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of a disintegrin and metalloprotease (ADAM) family of endoproteases that play important roles in various biological processes including cell signaling, adhesion and migration. The encoded preproprotein undergoes proteolytic processing to generate a mature, functional protein that localizes to the cell surface. About a third of the mice lacking the encoded protein die before weaning. Overexpression of the encoded protein in a mouse model of Duchenne muscular dystrophy alleviates the muscle pathology by preventing cell necrosis and inflammation. [provided by RefSeq, May 2016]
PHENOTYPE: Homozygous null mice display partial postnatal lethality, decreased brown fat, and impaired formation of neck and interscapular muscles. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A G 6: 121,646,875 N400S probably benign Het
Adam5 T C 8: 24,744,133 probably benign Het
Amn A T 12: 111,274,479 Y139F possibly damaging Het
Ano10 C A 9: 122,261,392 R285L probably damaging Het
Atad2b A G 12: 4,974,046 Y57C probably damaging Het
Brd8 T C 18: 34,604,873 K786R probably damaging Het
Cacna2d1 T C 5: 16,320,164 probably benign Het
Card9 C T 2: 26,352,329 D532N probably damaging Het
Cd22 T C 7: 30,877,625 T86A probably benign Het
Cebpz A T 17: 78,923,261 D842E possibly damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Cspp1 A G 1: 10,108,465 N713S possibly damaging Het
Eml5 T C 12: 98,790,674 T1899A probably benign Het
Fpgs T C 2: 32,685,789 T381A probably damaging Het
Frmd7 G A X: 50,895,898 T465I possibly damaging Het
Gm9837 A T 11: 53,470,160 probably benign Het
Hectd3 C A 4: 117,003,136 A816D possibly damaging Het
Itpripl2 A G 7: 118,490,296 W347R probably damaging Het
Kcnc3 A G 7: 44,595,794 T503A probably damaging Het
Mmadhc T C 2: 50,288,980 E142G possibly damaging Het
Nabp2 T A 10: 128,408,323 N138I possibly damaging Het
Obscn A G 11: 59,076,899 V2902A possibly damaging Het
Rbm8a2 T C 1: 175,978,638 D91G probably damaging Het
Samd3 A T 10: 26,233,576 Y134F possibly damaging Het
Slc11a2 A G 15: 100,401,649 F58S probably damaging Het
Slitrk4 T C X: 64,272,684 T126A probably damaging Het
Sspo C A 6: 48,461,638 P1547T probably benign Het
Tecta T C 9: 42,394,998 S45G probably damaging Het
Tenm3 T C 8: 48,236,694 T1937A possibly damaging Het
Tmem214 G A 5: 30,872,746 A296T probably benign Het
Trmt1l T A 1: 151,439,531 I156N probably damaging Het
Vmn1r71 C T 7: 10,748,272 R163Q probably benign Het
Ythdf2 C T 4: 132,211,446 G13D probably damaging Het
Zbtb7c A T 18: 76,136,976 Y45F possibly damaging Het
Zfc3h1 G A 10: 115,407,985 M740I probably damaging Het
Other mutations in Adam12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00474:Adam12 APN 7 133909881 missense possibly damaging 0.51
IGL01403:Adam12 APN 7 133919610 missense probably benign 0.00
IGL01482:Adam12 APN 7 133967848 missense probably damaging 1.00
IGL01922:Adam12 APN 7 133937472 nonsense probably null
IGL03401:Adam12 APN 7 133916463 missense probably damaging 1.00
R0122:Adam12 UTSW 7 134012348 missense probably benign 0.45
R0200:Adam12 UTSW 7 133974416 splice site probably null
R0463:Adam12 UTSW 7 133974416 splice site probably null
R0927:Adam12 UTSW 7 133998230 missense probably damaging 1.00
R1258:Adam12 UTSW 7 133937447 missense probably damaging 1.00
R1440:Adam12 UTSW 7 133931814 missense probably benign 0.03
R1483:Adam12 UTSW 7 133930025 missense probably benign 0.41
R1692:Adam12 UTSW 7 133887944 makesense probably null
R1797:Adam12 UTSW 7 133967861 missense probably benign 0.03
R2134:Adam12 UTSW 7 134012288 nonsense probably null
R2230:Adam12 UTSW 7 133919618 missense probably damaging 1.00
R2350:Adam12 UTSW 7 133919524 missense probably damaging 1.00
R2944:Adam12 UTSW 7 133975507 missense probably null 0.02
R3688:Adam12 UTSW 7 133964796 nonsense probably null
R3747:Adam12 UTSW 7 134172865 missense probably damaging 0.96
R3749:Adam12 UTSW 7 134172865 missense probably damaging 0.96
R3750:Adam12 UTSW 7 134172865 missense probably damaging 0.96
R4028:Adam12 UTSW 7 133929996 missense probably damaging 1.00
R4130:Adam12 UTSW 7 133912924 missense probably damaging 1.00
R4131:Adam12 UTSW 7 133912924 missense probably damaging 1.00
R4346:Adam12 UTSW 7 133981535 missense possibly damaging 0.82
R4701:Adam12 UTSW 7 133916462 missense possibly damaging 0.64
R4887:Adam12 UTSW 7 134172821 missense possibly damaging 0.74
R5355:Adam12 UTSW 7 133887942 makesense probably null
R5468:Adam12 UTSW 7 133975473 missense probably damaging 1.00
R5486:Adam12 UTSW 7 133907672 missense possibly damaging 0.75
R5990:Adam12 UTSW 7 133931736 missense probably damaging 1.00
R6504:Adam12 UTSW 7 133929984 missense probably damaging 1.00
R6783:Adam12 UTSW 7 133974397 missense probably damaging 1.00
R7117:Adam12 UTSW 7 133916462 missense probably benign 0.00
R7263:Adam12 UTSW 7 133919511 missense possibly damaging 0.68
R7749:Adam12 UTSW 7 134224813 missense unknown
R7820:Adam12 UTSW 7 133998188 missense probably benign 0.00
R7880:Adam12 UTSW 7 133909962 missense possibly damaging 0.94
R7891:Adam12 UTSW 7 133998232 missense probably benign 0.00
R8114:Adam12 UTSW 7 133967888 missense probably damaging 1.00
R8160:Adam12 UTSW 7 133968041 splice site probably null
X0057:Adam12 UTSW 7 134012315 nonsense probably null
Posted On2015-04-16