Incidental Mutation 'IGL03355:Adam28'
ID 419922
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adam28
Ensembl Gene ENSMUSG00000014725
Gene Name a disintegrin and metallopeptidase domain 28
Synonyms MDC-L, D430033C21Rik, Dtgn1, C130072N01Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.186) question?
Stock # IGL03355
Quality Score
Status
Chromosome 14
Chromosomal Location 68843476-68893291 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 68872252 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000153354 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022642] [ENSMUST00000111072] [ENSMUST00000224039]
AlphaFold Q9JLN6
Predicted Effect probably benign
Transcript: ENSMUST00000022642
SMART Domains Protein: ENSMUSP00000022642
Gene: ENSMUSG00000014725

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:Pep_M12B_propep 31 158 5.5e-34 PFAM
Pfam:Reprolysin_4 205 387 1.5e-14 PFAM
Pfam:Reprolysin_5 205 388 9.7e-19 PFAM
Pfam:Reprolysin 206 402 5.6e-70 PFAM
Pfam:Reprolysin_2 226 392 1e-16 PFAM
Pfam:Reprolysin_3 230 353 1.2e-21 PFAM
DISIN 419 494 2.1e-36 SMART
ACR 495 623 1.84e-52 SMART
EGF 631 660 3.01e0 SMART
transmembrane domain 667 689 N/A INTRINSIC
low complexity region 738 753 N/A INTRINSIC
low complexity region 757 765 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000111072
SMART Domains Protein: ENSMUSP00000106701
Gene: ENSMUSG00000014725

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:Pep_M12B_propep 31 158 5.3e-34 PFAM
Pfam:Reprolysin_4 205 387 1.5e-14 PFAM
Pfam:Reprolysin_5 205 388 9.3e-19 PFAM
Pfam:Reprolysin 206 402 5.3e-70 PFAM
Pfam:Reprolysin_2 226 392 9.9e-17 PFAM
Pfam:Reprolysin_3 230 353 1.1e-21 PFAM
DISIN 419 494 2.1e-36 SMART
ACR 495 623 1.84e-52 SMART
EGF 631 660 3.01e0 SMART
transmembrane domain 667 689 N/A INTRINSIC
low complexity region 738 753 N/A INTRINSIC
low complexity region 757 765 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000224039
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224131
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are typically membrane-anchored, although a form of this protein may be secreted. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate a mature protein product. This protein may bind to integrins and regulate lymphocyte migration by enhancing cell adhesion. [provided by RefSeq, Aug 2015]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actrt1 T C X: 45,418,624 (GRCm39) V213A probably benign Het
Apeh T C 9: 107,963,644 (GRCm39) H557R probably benign Het
Atmin T A 8: 117,684,164 (GRCm39) L608* probably null Het
B3gnt5 A T 16: 19,587,903 (GRCm39) M41L probably benign Het
Best3 T C 10: 116,829,010 (GRCm39) F97L possibly damaging Het
Chmp1b2 C A X: 106,831,889 (GRCm39) V180F possibly damaging Het
Col7a1 G A 9: 108,807,228 (GRCm39) V2486M unknown Het
Crym T C 7: 119,798,536 (GRCm39) probably null Het
Cubn T C 2: 13,482,868 (GRCm39) probably null Het
Dnah7b A G 1: 46,158,464 (GRCm39) D349G probably benign Het
Eea1 T C 10: 95,878,074 (GRCm39) probably benign Het
Emc1 C T 4: 139,098,904 (GRCm39) probably benign Het
Eps8 T C 6: 137,489,143 (GRCm39) probably benign Het
Ereg A G 5: 91,236,440 (GRCm39) probably benign Het
Faah G A 4: 115,859,725 (GRCm39) P369S probably benign Het
Fam135a A T 1: 24,068,249 (GRCm39) N703K possibly damaging Het
Frmpd1 T C 4: 45,279,140 (GRCm39) S622P probably damaging Het
Gm10030 A G 9: 110,835,841 (GRCm39) noncoding transcript Het
Gpr179 A T 11: 97,228,434 (GRCm39) S1240R possibly damaging Het
Hax1 A T 3: 89,904,754 (GRCm39) H146Q possibly damaging Het
Ift46 A G 9: 44,693,445 (GRCm39) N31D possibly damaging Het
Kel C T 6: 41,675,821 (GRCm39) probably null Het
Khk A T 5: 31,086,904 (GRCm39) I108L probably benign Het
Morc4 T C X: 138,750,431 (GRCm39) N375S probably null Het
Mta3 A T 17: 84,107,474 (GRCm39) probably benign Het
Nacc2 T C 2: 25,952,249 (GRCm39) K369R probably damaging Het
Nkap T C X: 36,403,323 (GRCm39) probably benign Het
Obscn A T 11: 58,928,618 (GRCm39) L6016Q probably damaging Het
Or52e2 T C 7: 102,804,408 (GRCm39) E182G probably damaging Het
Or8c9 A T 9: 38,240,952 (GRCm39) Q20L probably benign Het
Pde4c T A 8: 71,199,244 (GRCm39) L182Q probably damaging Het
Pla2g10 G T 16: 13,548,284 (GRCm39) probably null Het
Rap1gap2 T A 11: 74,303,170 (GRCm39) I426F probably damaging Het
Rbm33 C A 5: 28,596,059 (GRCm39) probably benign Het
Rnf139 C A 15: 58,771,881 (GRCm39) D635E probably benign Het
Sar1a T C 10: 61,520,718 (GRCm39) V15A possibly damaging Het
Scarb1 A C 5: 125,366,766 (GRCm39) S56A probably benign Het
Scn3a T C 2: 65,290,912 (GRCm39) K1945E possibly damaging Het
Sec62 G A 3: 30,864,071 (GRCm39) G118R unknown Het
Sgce T A 6: 4,689,738 (GRCm39) Q356L probably damaging Het
Slco4c1 A T 1: 96,770,232 (GRCm39) Y277* probably null Het
Smarca4 C T 9: 21,547,132 (GRCm39) T219I probably benign Het
Sphkap A T 1: 83,258,224 (GRCm39) I173N probably damaging Het
Spred3 C T 7: 28,860,997 (GRCm39) C394Y unknown Het
Stra6l A G 4: 45,873,689 (GRCm39) D283G probably benign Het
Tipin A T 9: 64,195,406 (GRCm39) Q4L probably benign Het
Tmprss11c T A 5: 86,379,730 (GRCm39) I380F probably benign Het
Tymp T C 15: 89,259,219 (GRCm39) D195G possibly damaging Het
Ugt2b34 T A 5: 87,054,544 (GRCm39) Y79F probably benign Het
Vmn2r16 T A 5: 109,511,580 (GRCm39) S596T possibly damaging Het
Wdhd1 A G 14: 47,481,346 (GRCm39) S1024P possibly damaging Het
Other mutations in Adam28
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00336:Adam28 APN 14 68,859,569 (GRCm39) missense possibly damaging 0.47
IGL00654:Adam28 APN 14 68,886,877 (GRCm39) missense probably benign 0.00
IGL01021:Adam28 APN 14 68,879,563 (GRCm39) missense probably benign
IGL01099:Adam28 APN 14 68,874,778 (GRCm39) critical splice donor site probably null
IGL01349:Adam28 APN 14 68,848,455 (GRCm39) missense probably benign 0.01
IGL01744:Adam28 APN 14 68,844,956 (GRCm39) missense probably benign 0.07
IGL01805:Adam28 APN 14 68,879,540 (GRCm39) missense probably benign 0.09
IGL02007:Adam28 APN 14 68,870,668 (GRCm39) missense possibly damaging 0.69
IGL02828:Adam28 APN 14 68,884,319 (GRCm39) missense possibly damaging 0.46
IGL03180:Adam28 APN 14 68,874,883 (GRCm39) missense probably damaging 1.00
IGL02980:Adam28 UTSW 14 68,857,255 (GRCm39) missense probably benign 0.01
PIT4453001:Adam28 UTSW 14 68,872,325 (GRCm39) missense probably benign 0.00
R0184:Adam28 UTSW 14 68,874,822 (GRCm39) missense probably benign 0.33
R0321:Adam28 UTSW 14 68,855,200 (GRCm39) missense probably damaging 0.97
R0329:Adam28 UTSW 14 68,855,188 (GRCm39) missense probably damaging 0.96
R0494:Adam28 UTSW 14 68,868,241 (GRCm39) splice site probably benign
R0605:Adam28 UTSW 14 68,844,049 (GRCm39) unclassified probably benign
R0732:Adam28 UTSW 14 68,874,796 (GRCm39) missense probably benign 0.00
R0959:Adam28 UTSW 14 68,845,387 (GRCm39) missense possibly damaging 0.93
R1319:Adam28 UTSW 14 68,846,578 (GRCm39) missense probably benign 0.28
R1745:Adam28 UTSW 14 68,870,620 (GRCm39) missense probably benign 0.04
R1836:Adam28 UTSW 14 68,886,870 (GRCm39) missense possibly damaging 0.85
R1838:Adam28 UTSW 14 68,876,659 (GRCm39) missense possibly damaging 0.53
R1839:Adam28 UTSW 14 68,876,659 (GRCm39) missense possibly damaging 0.53
R1850:Adam28 UTSW 14 68,876,644 (GRCm39) missense probably benign 0.01
R1912:Adam28 UTSW 14 68,881,780 (GRCm39) missense probably benign 0.24
R2830:Adam28 UTSW 14 68,864,363 (GRCm39) missense possibly damaging 0.65
R2889:Adam28 UTSW 14 68,872,294 (GRCm39) missense possibly damaging 0.85
R3977:Adam28 UTSW 14 68,848,443 (GRCm39) missense probably benign 0.20
R3978:Adam28 UTSW 14 68,848,443 (GRCm39) missense probably benign 0.20
R3979:Adam28 UTSW 14 68,848,443 (GRCm39) missense probably benign 0.20
R4282:Adam28 UTSW 14 68,885,155 (GRCm39) missense possibly damaging 0.92
R4416:Adam28 UTSW 14 68,859,531 (GRCm39) critical splice donor site probably null
R4690:Adam28 UTSW 14 68,879,497 (GRCm39) missense probably benign 0.01
R4724:Adam28 UTSW 14 68,864,326 (GRCm39) missense probably damaging 0.99
R4768:Adam28 UTSW 14 68,872,264 (GRCm39) missense possibly damaging 0.46
R4883:Adam28 UTSW 14 68,875,552 (GRCm39) missense probably damaging 0.99
R5054:Adam28 UTSW 14 68,855,164 (GRCm39) missense probably damaging 1.00
R5710:Adam28 UTSW 14 68,847,357 (GRCm39) missense probably damaging 0.96
R5835:Adam28 UTSW 14 68,893,130 (GRCm39) missense possibly damaging 0.96
R6002:Adam28 UTSW 14 68,879,511 (GRCm39) missense probably benign
R6054:Adam28 UTSW 14 68,879,601 (GRCm39) missense probably benign 0.01
R6349:Adam28 UTSW 14 68,870,621 (GRCm39) missense probably benign 0.29
R6449:Adam28 UTSW 14 68,868,116 (GRCm39) missense probably benign 0.31
R6455:Adam28 UTSW 14 68,870,657 (GRCm39) missense probably damaging 1.00
R6831:Adam28 UTSW 14 68,855,576 (GRCm39) missense probably benign 0.04
R6833:Adam28 UTSW 14 68,855,576 (GRCm39) missense probably benign 0.04
R7212:Adam28 UTSW 14 68,874,846 (GRCm39) missense probably damaging 0.99
R7411:Adam28 UTSW 14 68,864,396 (GRCm39) missense probably damaging 1.00
R7422:Adam28 UTSW 14 68,864,326 (GRCm39) missense probably damaging 1.00
R7516:Adam28 UTSW 14 68,868,125 (GRCm39) missense probably damaging 1.00
R7649:Adam28 UTSW 14 68,872,282 (GRCm39) missense probably benign 0.12
R7765:Adam28 UTSW 14 68,846,555 (GRCm39) critical splice donor site probably null
R8469:Adam28 UTSW 14 68,844,029 (GRCm39) missense probably benign 0.16
R8520:Adam28 UTSW 14 68,879,532 (GRCm39) missense probably damaging 0.98
R9026:Adam28 UTSW 14 68,846,593 (GRCm39) missense probably benign 0.16
R9163:Adam28 UTSW 14 68,866,531 (GRCm39) missense probably damaging 0.98
R9264:Adam28 UTSW 14 68,844,914 (GRCm39) missense probably benign
R9304:Adam28 UTSW 14 68,874,946 (GRCm39) missense probably damaging 1.00
R9357:Adam28 UTSW 14 68,879,479 (GRCm39) missense probably benign 0.36
R9441:Adam28 UTSW 14 68,874,943 (GRCm39) missense probably damaging 0.96
Z1177:Adam28 UTSW 14 68,864,233 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02