Incidental Mutation 'BB007:Adam20'
ID 642412
Institutional Source Beutler Lab
Gene Symbol Adam20
Ensembl Gene ENSMUSG00000046282
Gene Name a disintegrin and metallopeptidase domain 20
Synonyms 4930529F22Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # BB007
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 41246310-41250340 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 41250107 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 739 (T739I)
Ref Sequence ENSEMBL: ENSMUSP00000057794 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056331]
AlphaFold Q7M763
Predicted Effect probably benign
Transcript: ENSMUST00000056331
AA Change: T739I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000057794
Gene: ENSMUSG00000046282
AA Change: T739I

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: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam23 G T 1: 63,624,586 (GRCm39) V805F possibly damaging Het
Adamts17 A T 7: 66,499,547 (GRCm39) R31S probably damaging Het
Ano4 T A 10: 89,163,138 (GRCm39) Y27F possibly damaging Het
Bbs2 A G 8: 94,796,625 (GRCm39) V675A probably damaging Het
Brca2 A G 5: 150,481,975 (GRCm39) E2839G probably damaging Het
Capn5 C T 7: 97,773,085 (GRCm39) V640I probably benign Het
Casp4 C T 9: 5,321,318 (GRCm39) T23M probably damaging Het
Cerk C T 15: 86,028,920 (GRCm39) E379K possibly damaging Het
Comp G A 8: 70,826,503 (GRCm39) G26D probably damaging Het
Cpxm1 G A 2: 130,236,982 (GRCm39) A220V possibly damaging Het
Cyp2c69 G T 19: 39,831,434 (GRCm39) P460T possibly damaging Het
Ddx23 T C 15: 98,546,504 (GRCm39) D555G probably damaging Het
E2f6 T A 12: 16,869,058 (GRCm39) I127K probably damaging Het
Efr3a T A 15: 65,733,589 (GRCm39) D716E probably benign Het
Esp16 T G 17: 39,850,868 (GRCm39) S82R possibly damaging Het
Fasn A C 11: 120,700,061 (GRCm39) S2199A probably benign Het
Fscb A G 12: 64,519,337 (GRCm39) S710P unknown Het
Gas7 A G 11: 67,556,217 (GRCm39) I185M probably damaging Het
Glg1 A T 8: 111,887,367 (GRCm39) L1047I possibly damaging Het
Golga5 A G 12: 102,450,681 (GRCm39) N445D probably benign Het
Grin2c A T 11: 115,147,063 (GRCm39) H377Q probably benign Het
Hmgcs1 T C 13: 120,161,499 (GRCm39) I97T possibly damaging Het
Ifi211 T C 1: 173,733,769 (GRCm39) T131A possibly damaging Het
Ifngr1 A G 10: 19,484,931 (GRCm39) K310R probably damaging Het
Il18rap T C 1: 40,587,803 (GRCm39) V467A probably damaging Het
Itgad C A 7: 127,782,280 (GRCm39) Q239K probably benign Het
Jrkl T C 9: 13,245,506 (GRCm39) I52V possibly damaging Het
Kdm6b A T 11: 69,290,778 (GRCm39) D1630E unknown Het
Krt75 C A 15: 101,473,318 (GRCm39) *552L probably null Het
Mbd2 A G 18: 70,701,948 (GRCm39) D154G probably damaging Het
Mutyh A T 4: 116,674,153 (GRCm39) N235Y probably benign Het
Myo5b A G 18: 74,864,825 (GRCm39) T1348A probably benign Het
Ndufs7 T C 10: 80,089,619 (GRCm39) probably null Het
Nup205 T G 6: 35,171,511 (GRCm39) M458R probably damaging Het
Or1e32 A C 11: 73,705,926 (GRCm39) probably benign Het
Or1j4 G T 2: 36,740,285 (GRCm39) V76F probably damaging Het
Or2at1 A T 7: 99,416,803 (GRCm39) T145S probably benign Het
Or5b119 G A 19: 13,457,019 (GRCm39) P181L probably damaging Het
Or6b2 T A 1: 92,407,570 (GRCm39) M258L probably benign Het
Or8b101 A G 9: 38,020,264 (GRCm39) N89S possibly damaging Het
Or8k25 T A 2: 86,243,560 (GRCm39) T279S probably damaging Het
Plcl2 T G 17: 50,913,831 (GRCm39) I280S probably benign Het
Ppargc1a A T 5: 51,630,264 (GRCm39) Y618N unknown Het
Rab43 A T 6: 87,788,348 (GRCm39) I60N probably damaging Het
Rnf126 A T 10: 79,596,726 (GRCm39) C231S probably damaging Het
Rnf220 T A 4: 117,164,787 (GRCm39) E238D probably damaging Het
Scn9a A T 2: 66,335,193 (GRCm39) D1265E probably damaging Het
Sntb2 T A 8: 107,728,269 (GRCm39) S406T probably damaging Het
Sos1 T C 17: 80,714,267 (GRCm39) I1068V probably benign Het
Spart A G 3: 55,035,697 (GRCm39) K519E probably damaging Het
Tlx3 A T 11: 33,153,058 (GRCm39) F134L probably damaging Het
Trbj1-2 A T 6: 41,510,964 (GRCm39) T10S Het
Txk A C 5: 72,892,536 (GRCm39) L33R probably damaging Het
Ulk2 A G 11: 61,682,258 (GRCm39) probably null Het
Usp20 T C 2: 30,900,556 (GRCm39) S357P probably benign Het
Wac T A 18: 7,921,560 (GRCm39) N565K possibly damaging Het
Zfp1007 A T 5: 109,823,622 (GRCm39) C609* probably null Het
Zfp709 G T 8: 72,644,684 (GRCm39) K704N probably damaging Het
Zfp788 C T 7: 41,299,049 (GRCm39) Q562* probably null 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
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
R6559:Adam20 UTSW 8 41,249,329 (GRCm39) missense probably benign 0.03
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 PCR Primer
(F):5'- ACCACATTGCCTGGAAAGTGG -3'
(R):5'- GCAAGAGGCACTAAAATTGCTG -3'

Sequencing Primer
(F):5'- CCTGGAAAGTGGCTTTGGAG -3'
(R):5'- CCAGGACCTATACTTTTATTGAATGC -3'
Posted On 2020-08-01