Incidental Mutation 'IGL03180:Adam28'
ID 412176
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 # IGL03180
Quality Score
Status
Chromosome 14
Chromosomal Location 68843476-68893291 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 68874883 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 265 (I265L)
Ref Sequence ENSEMBL: ENSMUSP00000153354 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022642] [ENSMUST00000111072] [ENSMUST00000224039]
AlphaFold Q9JLN6
Predicted Effect probably damaging
Transcript: ENSMUST00000022642
AA Change: I265L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022642
Gene: ENSMUSG00000014725
AA Change: I265L

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 damaging
Transcript: ENSMUST00000111072
AA Change: I265L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106701
Gene: ENSMUSG00000014725
AA Change: I265L

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 damaging
Transcript: ENSMUST00000224039
AA Change: I265L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp6 T C 3: 97,082,951 (GRCm39) Y321H probably benign Het
Adcy8 T C 15: 64,655,799 (GRCm39) D560G possibly damaging Het
Aff3 A G 1: 38,574,743 (GRCm39) M79T probably damaging Het
Ahctf1 A G 1: 179,602,895 (GRCm39) probably null Het
Aspn C T 13: 49,716,991 (GRCm39) R256W probably damaging Het
Birc6 T C 17: 74,966,226 (GRCm39) V4051A probably benign Het
Cfap46 G A 7: 139,183,168 (GRCm39) L2584F unknown Het
Chdh T A 14: 29,756,559 (GRCm39) probably null Het
Clasp1 A G 1: 118,433,255 (GRCm39) T245A probably benign Het
Clec4a1 G A 6: 122,901,777 (GRCm39) V70I probably benign Het
Cpt2 A T 4: 107,764,157 (GRCm39) S536T probably damaging Het
Dnah9 A T 11: 65,777,465 (GRCm39) H3694Q probably damaging Het
Dntt T A 19: 41,017,990 (GRCm39) F38Y probably benign Het
Dync2i1 T C 12: 116,182,485 (GRCm39) S706G probably benign Het
Eif4ebp2 T C 10: 61,269,589 (GRCm39) E117G probably damaging Het
Eif5b T C 1: 38,075,350 (GRCm39) I609T probably damaging Het
Esam G A 9: 37,445,866 (GRCm39) G135S probably damaging Het
Fut7 C A 2: 25,315,465 (GRCm39) A241D possibly damaging Het
Grin2d T A 7: 45,502,753 (GRCm39) K706M probably damaging Het
Grip2 A G 6: 91,762,742 (GRCm39) probably benign Het
Gtf2ird2 A G 5: 134,220,087 (GRCm39) T22A probably damaging Het
Hadh T C 3: 131,065,533 (GRCm39) I42V probably benign Het
Iqsec3 T A 6: 121,390,467 (GRCm39) probably benign Het
Izumo3 G A 4: 92,034,524 (GRCm39) probably benign Het
Ldlrad1 G T 4: 107,075,032 (GRCm39) C193F probably damaging Het
Lgals4 G A 7: 28,537,053 (GRCm39) G118R probably damaging Het
Map4k1 A C 7: 28,687,510 (GRCm39) E136A probably damaging Het
Mapk8ip1 G T 2: 92,217,257 (GRCm39) P346Q possibly damaging Het
Mrtfb A G 16: 13,216,196 (GRCm39) K303E probably damaging Het
Nlrp14 T A 7: 106,781,833 (GRCm39) H343Q probably benign Het
Ogg1 T G 6: 113,310,455 (GRCm39) probably null Het
Or12k8 C T 2: 36,975,722 (GRCm39) V13M possibly damaging Het
Or5m10 A T 2: 85,717,740 (GRCm39) M199L probably benign Het
Pacc1 G T 1: 191,071,089 (GRCm39) V82F probably damaging Het
Pafah1b1 A T 11: 74,574,344 (GRCm39) C281S possibly damaging Het
Papss1 C T 3: 131,313,143 (GRCm39) R386W probably damaging Het
Pex5 A G 6: 124,390,522 (GRCm39) probably benign Het
Pibf1 C A 14: 99,370,780 (GRCm39) Q261K probably benign Het
Plcb3 T C 19: 6,933,521 (GRCm39) S935G probably benign Het
Polg A G 7: 79,101,601 (GRCm39) probably benign Het
Ptpdc1 G A 13: 48,739,553 (GRCm39) T626I probably damaging Het
Rab34 A T 11: 78,081,144 (GRCm39) Y87F probably damaging Het
Rsrc1 T G 3: 66,989,876 (GRCm39) probably benign Het
Ryr2 T C 13: 11,583,449 (GRCm39) N4735S possibly damaging Het
Scn7a T C 2: 66,506,578 (GRCm39) D1437G possibly damaging Het
Sdk1 A G 5: 142,071,497 (GRCm39) E1229G probably damaging Het
Sez6l A T 5: 112,584,151 (GRCm39) V806D probably damaging Het
Sgsm2 A C 11: 74,759,401 (GRCm39) probably null Het
Sla A G 15: 66,661,569 (GRCm39) I121T probably benign Het
Son T C 16: 91,453,896 (GRCm39) L881S probably damaging Het
Srms A G 2: 180,854,573 (GRCm39) probably benign Het
Stoml1 T C 9: 58,168,200 (GRCm39) S304P probably damaging Het
Stt3a T C 9: 36,670,552 (GRCm39) D73G probably damaging Het
Tpp1 T C 7: 105,395,856 (GRCm39) T558A probably benign Het
Trp53i13 T C 11: 77,403,528 (GRCm39) probably benign Het
Vmn2r77 A G 7: 86,450,843 (GRCm39) Y243C possibly damaging Het
Vwde T C 6: 13,205,764 (GRCm39) D261G probably damaging Het
Zfpm2 A G 15: 40,964,790 (GRCm39) K293R probably 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
IGL03355:Adam28 APN 14 68,872,252 (GRCm39) splice site probably benign
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