Incidental Mutation 'R6559:Adam20'
ID 521947
Institutional Source Beutler Lab
Gene Symbol Adam20
Ensembl Gene ENSMUSG00000046282
Gene Name a disintegrin and metallopeptidase domain 20
Synonyms 4930529F22Rik
MMRRC Submission 044683-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6559 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 41246310-41250340 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 41249329 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glutamine at position 480 (E480Q)
Ref Sequence ENSEMBL: ENSMUSP00000057794 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056331]
AlphaFold Q7M763
Predicted Effect probably benign
Transcript: ENSMUST00000056331
AA Change: E480Q

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000057794
Gene: ENSMUSG00000046282
AA Change: E480Q

DomainStartEndE-ValueType
Pfam:Pep_M12B_propep 51 177 1.3e-19 PFAM
Pfam:Reprolysin_5 219 399 5.4e-16 PFAM
Pfam:Reprolysin_4 219 408 5.4e-11 PFAM
Pfam:Reprolysin 221 411 3.1e-45 PFAM
Pfam:Reprolysin_3 248 366 2.5e-13 PFAM
Pfam:Reprolysin_2 295 403 1e-14 PFAM
DISIN 429 504 4.29e-33 SMART
ACR 505 641 3.9e-74 SMART
transmembrane domain 703 722 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522H14Rik C T 4: 109,363,002 (GRCm39) V106I possibly damaging Het
Actn4 T C 7: 28,606,461 (GRCm39) K284R possibly damaging Het
Cdkl3 A G 11: 51,916,696 (GRCm39) T275A probably benign Het
Dync2h1 A G 9: 7,139,501 (GRCm39) I1378T possibly damaging Het
Fam186a A G 15: 99,842,356 (GRCm39) I1296T possibly damaging Het
Fbf1 G A 11: 116,046,272 (GRCm39) T193M probably benign Het
Fcrl1 A G 3: 87,298,560 (GRCm39) I352V probably benign Het
Ifit3 T C 19: 34,564,514 (GRCm39) F20S probably damaging Het
Klhl3 G A 13: 58,164,290 (GRCm39) R431W probably damaging Het
Lipi A G 16: 75,337,982 (GRCm39) V464A probably benign Het
Lrp6 T C 6: 134,490,217 (GRCm39) I120M probably damaging Het
Mst1r A G 9: 107,785,470 (GRCm39) N376S possibly damaging Het
Myo1c C T 11: 75,562,461 (GRCm39) P918S probably benign Het
Ncoa2 G A 1: 13,220,841 (GRCm39) probably null Het
Odad2 T C 18: 7,223,664 (GRCm39) T460A probably damaging Het
Or6c215 A T 10: 129,637,533 (GRCm39) I287N probably damaging Het
Or8c10 A G 9: 38,279,052 (GRCm39) Y60C probably damaging Het
Teddm1a A T 1: 153,768,111 (GRCm39) I192F probably benign Het
Tnfaip3 A G 10: 18,882,996 (GRCm39) S190P probably damaging Het
Ttc3 T C 16: 94,223,208 (GRCm39) probably null Het
Zfp112 C T 7: 23,825,888 (GRCm39) Q619* probably null Het
Zscan4-ps3 A G 7: 11,344,339 (GRCm39) E99G probably damaging Het
Other mutations in Adam20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00595:Adam20 APN 8 41,249,084 (GRCm39) missense probably benign 0.00
IGL01357:Adam20 APN 8 41,249,597 (GRCm39) missense probably benign 0.09
IGL01877:Adam20 APN 8 41,248,982 (GRCm39) missense probably benign 0.00
IGL02295:Adam20 APN 8 41,249,873 (GRCm39) missense probably damaging 1.00
IGL02683:Adam20 APN 8 41,248,621 (GRCm39) missense probably damaging 0.98
IGL03090:Adam20 APN 8 41,247,965 (GRCm39) missense probably benign 0.00
BB007:Adam20 UTSW 8 41,250,107 (GRCm39) missense probably benign 0.00
BB017:Adam20 UTSW 8 41,250,107 (GRCm39) missense probably benign 0.00
PIT4151001:Adam20 UTSW 8 41,248,081 (GRCm39) missense possibly damaging 0.58
PIT4696001:Adam20 UTSW 8 41,247,985 (GRCm39) missense probably benign 0.20
R0607:Adam20 UTSW 8 41,248,517 (GRCm39) missense probably benign 0.02
R0885:Adam20 UTSW 8 41,249,595 (GRCm39) missense probably benign 0.02
R1018:Adam20 UTSW 8 41,249,146 (GRCm39) nonsense probably null
R1147:Adam20 UTSW 8 41,248,655 (GRCm39) missense possibly damaging 0.82
R1147:Adam20 UTSW 8 41,248,655 (GRCm39) missense possibly damaging 0.82
R1421:Adam20 UTSW 8 41,249,784 (GRCm39) missense possibly damaging 0.48
R1739:Adam20 UTSW 8 41,249,595 (GRCm39) missense probably benign 0.02
R1778:Adam20 UTSW 8 41,249,698 (GRCm39) missense possibly damaging 0.92
R1844:Adam20 UTSW 8 41,249,080 (GRCm39) missense probably benign
R3814:Adam20 UTSW 8 41,248,712 (GRCm39) missense probably damaging 1.00
R3877:Adam20 UTSW 8 41,249,671 (GRCm39) missense possibly damaging 0.75
R4193:Adam20 UTSW 8 41,248,352 (GRCm39) missense probably damaging 0.99
R4357:Adam20 UTSW 8 41,248,084 (GRCm39) missense possibly damaging 0.61
R4846:Adam20 UTSW 8 41,248,048 (GRCm39) missense probably benign 0.10
R5452:Adam20 UTSW 8 41,248,801 (GRCm39) missense probably damaging 0.96
R6708:Adam20 UTSW 8 41,249,531 (GRCm39) missense probably damaging 1.00
R6730:Adam20 UTSW 8 41,249,696 (GRCm39) missense probably benign 0.23
R7194:Adam20 UTSW 8 41,249,449 (GRCm39) missense probably benign 0.45
R7323:Adam20 UTSW 8 41,248,421 (GRCm39) missense probably benign 0.45
R7917:Adam20 UTSW 8 41,249,408 (GRCm39) missense probably damaging 1.00
R7930:Adam20 UTSW 8 41,250,107 (GRCm39) missense probably benign 0.00
R7954:Adam20 UTSW 8 41,249,581 (GRCm39) missense probably damaging 1.00
R7964:Adam20 UTSW 8 41,249,944 (GRCm39) missense probably damaging 0.97
R8006:Adam20 UTSW 8 41,248,944 (GRCm39) missense probably benign 0.02
R8125:Adam20 UTSW 8 41,247,973 (GRCm39) missense probably benign 0.01
R8134:Adam20 UTSW 8 41,249,101 (GRCm39) missense probably benign 0.02
R8435:Adam20 UTSW 8 41,248,072 (GRCm39) missense probably damaging 1.00
R8530:Adam20 UTSW 8 41,249,071 (GRCm39) missense probably damaging 1.00
R8695:Adam20 UTSW 8 41,248,865 (GRCm39) missense probably benign 0.13
R8757:Adam20 UTSW 8 41,248,943 (GRCm39) missense probably benign 0.00
R8871:Adam20 UTSW 8 41,248,601 (GRCm39) missense probably damaging 0.98
R8935:Adam20 UTSW 8 41,247,989 (GRCm39) missense probably benign 0.00
R9110:Adam20 UTSW 8 41,248,907 (GRCm39) missense probably benign 0.14
R9696:Adam20 UTSW 8 41,249,633 (GRCm39) missense probably damaging 0.99
R9703:Adam20 UTSW 8 41,248,971 (GRCm39) missense probably damaging 1.00
R9706:Adam20 UTSW 8 41,248,490 (GRCm39) missense probably benign 0.00
R9712:Adam20 UTSW 8 41,248,490 (GRCm39) missense probably benign 0.00
R9713:Adam20 UTSW 8 41,248,490 (GRCm39) missense probably benign 0.00
R9715:Adam20 UTSW 8 41,248,490 (GRCm39) missense probably benign 0.00
X0062:Adam20 UTSW 8 41,250,061 (GRCm39) missense probably benign 0.03
Predicted Primers
Posted On 2018-06-06