Incidental Mutation 'IGL01349:Adam28'
ID 75264
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 # IGL01349
Quality Score
Status
Chromosome 14
Chromosomal Location 68843476-68893291 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 68848455 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 667 (H667R)
Ref Sequence ENSEMBL: ENSMUSP00000153354 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022642] [ENSMUST00000111072] [ENSMUST00000224039]
AlphaFold Q9JLN6
Predicted Effect probably benign
Transcript: ENSMUST00000022642
AA Change: H667R

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000022642
Gene: ENSMUSG00000014725
AA Change: H667R

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
AA Change: H667R

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000106701
Gene: ENSMUSG00000014725
AA Change: H667R

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
AA Change: H667R

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230006
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 C T 11: 9,242,076 (GRCm39) S1313L probably benign Het
Arap1 T C 7: 101,036,359 (GRCm39) V382A possibly damaging Het
Arih2 T C 9: 108,482,609 (GRCm39) Y444C probably damaging Het
Asxl3 T G 18: 22,657,294 (GRCm39) V1768G probably benign Het
Bbs9 T A 9: 22,798,979 (GRCm39) M869K probably benign Het
C4bp A G 1: 130,570,665 (GRCm39) probably benign Het
Cc2d2a A T 5: 43,881,126 (GRCm39) Y1167F probably benign Het
Cgn T A 3: 94,674,486 (GRCm39) K884* probably null Het
Chd1l T C 3: 97,498,550 (GRCm39) Y283C probably benign Het
Cry1 A G 10: 84,984,603 (GRCm39) V157A probably benign Het
Dcc T A 18: 71,503,808 (GRCm39) D950V probably damaging Het
Dlc1 A G 8: 37,050,978 (GRCm39) F918L probably damaging Het
Dnah2 T C 11: 69,366,432 (GRCm39) N1890S probably damaging Het
Dnah5 A G 15: 28,295,059 (GRCm39) probably benign Het
Eif4b C T 15: 101,999,858 (GRCm39) T412I probably benign Het
Eloa A C 4: 135,741,758 (GRCm39) Y29D probably benign Het
Erbb4 A G 1: 68,385,752 (GRCm39) F279S probably benign Het
Etl4 A G 2: 20,718,207 (GRCm39) D316G probably damaging Het
Gm5114 T C 7: 39,058,531 (GRCm39) S363G probably benign Het
Gpam A G 19: 55,084,551 (GRCm39) probably null Het
Il17rd T A 14: 26,817,901 (GRCm39) S197T probably damaging Het
Iqsec3 T C 6: 121,450,083 (GRCm39) E147G possibly damaging Het
Itk T A 11: 46,232,027 (GRCm39) T303S possibly damaging Het
Kcnh6 A G 11: 105,914,743 (GRCm39) D716G possibly damaging Het
Lca5 A G 9: 83,308,670 (GRCm39) S59P probably damaging Het
Lrrc40 T C 3: 157,764,302 (GRCm39) probably benign Het
Mmp7 T C 9: 7,699,335 (GRCm39) probably benign Het
Mycbp2 T C 14: 103,359,983 (GRCm39) T4427A probably damaging Het
Nf2 T C 11: 4,734,472 (GRCm39) D513G possibly damaging Het
Or2y1b T A 11: 49,209,127 (GRCm39) Y251* probably null Het
Pde7a C T 3: 19,283,843 (GRCm39) probably benign Het
Pira2 T C 7: 3,847,138 (GRCm39) T135A probably damaging Het
Rb1 T C 14: 73,506,558 (GRCm39) Y397C probably damaging Het
Ros1 A T 10: 51,927,122 (GRCm39) M2187K probably damaging Het
Ryr2 T A 13: 11,602,125 (GRCm39) I4586F possibly damaging Het
Serpinb3c A T 1: 107,200,513 (GRCm39) M210K probably damaging Het
Slc22a19 C A 19: 7,651,792 (GRCm39) V472F probably benign Het
Slc4a11 A G 2: 130,528,863 (GRCm39) I462T probably benign Het
Spag11b A T 8: 19,191,492 (GRCm39) H55L probably damaging Het
Trpv5 G T 6: 41,652,309 (GRCm39) N125K possibly damaging Het
Ubr4 G T 4: 139,208,039 (GRCm39) R4940L unknown Het
Vcan T A 13: 89,852,062 (GRCm39) H966L probably damaging Het
Vmn1r204 T A 13: 22,740,504 (GRCm39) I45K probably damaging Het
Vnn3 A T 10: 23,727,814 (GRCm39) I75F probably damaging Het
Vps13b A T 15: 35,794,091 (GRCm39) M2256L probably benign Het
Zfc3h1 T A 10: 115,259,353 (GRCm39) L1642M 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
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
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 2013-10-07