Incidental Mutation 'R8469:Adam28'
ID 656963
Institutional Source Beutler Lab
Gene Symbol Adam28
Ensembl Gene ENSMUSG00000014725
Gene Name a disintegrin and metallopeptidase domain 28
Synonyms MDC-L, D430033C21Rik, Dtgn1, C130072N01Rik
MMRRC Submission 067913-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.186) question?
Stock # R8469 (G1)
Quality Score 207.009
Status Not validated
Chromosome 14
Chromosomal Location 68843476-68893291 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 68844029 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 774 (V774I)
Ref Sequence ENSEMBL: ENSMUSP00000106701 (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
AA Change: V774I

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000106701
Gene: ENSMUSG00000014725
AA Change: V774I

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 98% (41/42)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438H23Rik A G 16: 90,852,797 (GRCm39) F113S probably damaging Het
Abcd4 A G 12: 84,659,190 (GRCm39) Y189H probably damaging Het
Actn1 T C 12: 80,240,457 (GRCm39) D210G possibly damaging Het
Anapc1 A T 2: 128,500,264 (GRCm39) probably null Het
Atg2b A T 12: 105,604,170 (GRCm39) I1577N probably benign Het
Bod1l A G 5: 41,978,834 (GRCm39) S827P possibly damaging Het
Carmil1 A T 13: 24,296,011 (GRCm39) C377S probably damaging Het
Cplx4 T C 18: 66,090,083 (GRCm39) E112G possibly damaging Het
Cyp4f39 C A 17: 32,711,340 (GRCm39) R496S probably damaging Het
Dmgdh G A 13: 93,843,175 (GRCm39) R337Q probably damaging Het
Dnah10 T C 5: 124,813,895 (GRCm39) F345S probably damaging Het
Dst A G 1: 34,268,109 (GRCm39) R2844G probably damaging Het
Fam186a T A 15: 99,845,186 (GRCm39) I353L unknown Het
Fam78a A G 2: 31,959,345 (GRCm39) V255A possibly damaging Het
Ino80 T A 2: 119,210,074 (GRCm39) I1406L probably benign Het
Itga11 T C 9: 62,678,680 (GRCm39) F949S probably benign Het
Jmjd7 G A 2: 119,860,643 (GRCm39) A57T possibly damaging Het
Krt1c T C 15: 101,724,804 (GRCm39) T269A probably benign Het
Lgi4 A T 7: 30,767,065 (GRCm39) D364V probably damaging Het
Lrp12 T C 15: 39,735,791 (GRCm39) T733A probably damaging Het
Marchf7 T A 2: 60,064,670 (GRCm39) N315K probably benign Het
Methig1 A G 15: 100,251,130 (GRCm39) I14V probably benign Het
Mtmr3 A T 11: 4,481,223 (GRCm39) M1K probably null Het
Nras A G 3: 102,966,217 (GRCm39) probably benign Het
Nsd1 A G 13: 55,425,366 (GRCm39) T1508A possibly damaging Het
Obscn T C 11: 59,019,063 (GRCm39) T917A probably damaging Het
Pard6g T C 18: 80,090,347 (GRCm39) V21A possibly damaging Het
Pcdha5 T A 18: 37,094,798 (GRCm39) W436R probably benign Het
Pde4d T C 13: 108,996,722 (GRCm39) V8A probably benign Het
Pou4f3 C T 18: 42,528,339 (GRCm39) T94M probably benign Het
Prdm6 G T 18: 53,597,758 (GRCm39) probably benign Het
Ralgapa1 T C 12: 55,786,198 (GRCm39) R674G probably damaging Het
Rcc1 A G 4: 132,061,445 (GRCm39) S368P probably damaging Het
Rcn2 T A 9: 55,952,485 (GRCm39) V110E probably benign Het
Reep4 T A 14: 70,783,180 (GRCm39) probably null Het
Rrbp1 T C 2: 143,831,661 (GRCm39) I169V probably damaging Het
Slc2a6 T C 2: 26,914,347 (GRCm39) S257G probably benign Het
Spag9 A G 11: 93,982,627 (GRCm39) R612G probably damaging Het
Ssh2 A G 11: 77,340,434 (GRCm39) T529A probably benign Het
Triobp A G 15: 78,851,219 (GRCm39) S458G probably benign Het
Zfp729a G T 13: 67,769,481 (GRCm39) H249Q probably damaging Het
Zfp940 A G 7: 29,544,572 (GRCm39) I445T 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
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
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
Predicted Primers PCR Primer
(F):5'- AGCCATGTCCTTAGGAATATGG -3'
(R):5'- GACATACATCCTGACCTTCTGCTAC -3'

Sequencing Primer
(F):5'- CCATGTCCTTAGGAATATGGAAAGG -3'
(R):5'- GGATGCTATGATCATCTGAG -3'
Posted On 2021-01-18