Incidental Mutation 'IGL02683:Adam20'
ID303422
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adam20
Ensembl Gene ENSMUSG00000046282
Gene Namea disintegrin and metallopeptidase domain 20
Synonyms4930529F22Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02683
Quality Score
Status
Chromosome8
Chromosomal Location40793273-40797303 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 40795584 bp
ZygosityHeterozygous
Amino Acid Change Valine to Methionine at position 244 (V244M)
Ref Sequence ENSEMBL: ENSMUSP00000057794 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056331]
Predicted Effect probably damaging
Transcript: ENSMUST00000056331
AA Change: V244M

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000057794
Gene: ENSMUSG00000046282
AA Change: V244M

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
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars T C 8: 111,052,531 probably benign Het
Abhd3 A G 18: 10,658,790 S215P probably damaging Het
Akr1c21 A C 13: 4,576,313 D112A probably damaging Het
Ano6 A T 15: 95,948,312 Y498F probably damaging Het
Aspscr1 T C 11: 120,701,226 F263S probably damaging Het
Capn11 A G 17: 45,653,591 F100S probably damaging Het
Cd63 T C 10: 128,910,430 C9R probably damaging Het
Cenpj T C 14: 56,552,952 K547E possibly damaging Het
Clasp1 A G 1: 118,539,266 D793G probably benign Het
Cmya5 G A 13: 93,090,997 Q2528* probably null Het
Crybg1 A G 10: 43,989,216 S1422P possibly damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Dnal1 G A 12: 84,138,354 G178D probably damaging Het
E2f7 T C 10: 110,782,459 M795T probably benign Het
Glipr1l2 T C 10: 112,083,476 V34A probably benign Het
Gm12800 T C 4: 101,910,354 S267P probably benign Het
Gsdmc2 C T 15: 63,833,412 V151M probably damaging Het
Htr7 T C 19: 35,960,362 T448A probably benign Het
Kcnj5 T C 9: 32,317,780 T41A possibly damaging Het
Kcnt1 T C 2: 25,900,925 M12T possibly damaging Het
Kif1c G A 11: 70,726,452 A871T possibly damaging Het
Map3k10 T C 7: 27,658,937 K571R probably damaging Het
Med23 C A 10: 24,870,717 A45E probably benign Het
Nudt5 C A 2: 5,863,601 S103R probably damaging Het
Olfr1154 T A 2: 87,903,104 T191S possibly damaging Het
Parp3 A G 9: 106,473,185 S369P possibly damaging Het
Plxna4 A T 6: 32,517,606 L25Q probably benign Het
Pon2 A G 6: 5,269,062 V204A probably damaging Het
Ppfia1 A G 7: 144,513,358 M463T probably damaging Het
Ppp1r14d T C 2: 119,218,822 E95G probably damaging Het
Prrc2a A G 17: 35,155,993 V1227A probably benign Het
Rabgap1 T A 2: 37,502,939 W536R probably damaging Het
Slco6d1 A G 1: 98,480,672 N431S probably benign Het
Spen C T 4: 141,471,645 V3224I probably benign Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Ssh2 A G 11: 77,398,256 D88G probably damaging Het
Stat5b T G 11: 100,804,946 K70T probably benign Het
Tex44 A G 1: 86,427,743 D458G probably benign Het
Tut1 T A 19: 8,965,258 C570S probably benign Het
Usp42 T C 5: 143,715,346 E974G possibly damaging Het
Vezf1 A T 11: 88,076,327 Q310L probably benign Het
Vmn2r83 A T 10: 79,491,281 R574S probably benign Het
Zfp664 T C 5: 124,886,322 V260A probably benign Het
Other mutations in Adam20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00595:Adam20 APN 8 40796047 missense probably benign 0.00
IGL01357:Adam20 APN 8 40796560 missense probably benign 0.09
IGL01877:Adam20 APN 8 40795945 missense probably benign 0.00
IGL02295:Adam20 APN 8 40796836 missense probably damaging 1.00
IGL03090:Adam20 APN 8 40794928 missense probably benign 0.00
BB007:Adam20 UTSW 8 40797070 missense probably benign 0.00
BB017:Adam20 UTSW 8 40797070 missense probably benign 0.00
PIT4151001:Adam20 UTSW 8 40795044 missense possibly damaging 0.58
PIT4696001:Adam20 UTSW 8 40794948 missense probably benign 0.20
R0607:Adam20 UTSW 8 40795480 missense probably benign 0.02
R0885:Adam20 UTSW 8 40796558 missense probably benign 0.02
R1018:Adam20 UTSW 8 40796109 nonsense probably null
R1147:Adam20 UTSW 8 40795618 missense possibly damaging 0.82
R1147:Adam20 UTSW 8 40795618 missense possibly damaging 0.82
R1421:Adam20 UTSW 8 40796747 missense possibly damaging 0.48
R1739:Adam20 UTSW 8 40796558 missense probably benign 0.02
R1778:Adam20 UTSW 8 40796661 missense possibly damaging 0.92
R1844:Adam20 UTSW 8 40796043 missense probably benign
R3814:Adam20 UTSW 8 40795675 missense probably damaging 1.00
R3877:Adam20 UTSW 8 40796634 missense possibly damaging 0.75
R4193:Adam20 UTSW 8 40795315 missense probably damaging 0.99
R4357:Adam20 UTSW 8 40795047 missense possibly damaging 0.61
R4846:Adam20 UTSW 8 40795011 missense probably benign 0.10
R5452:Adam20 UTSW 8 40795764 missense probably damaging 0.96
R6559:Adam20 UTSW 8 40796292 missense probably benign 0.03
R6708:Adam20 UTSW 8 40796494 missense probably damaging 1.00
R6730:Adam20 UTSW 8 40796659 missense probably benign 0.23
R7194:Adam20 UTSW 8 40796412 missense probably benign 0.45
R7323:Adam20 UTSW 8 40795384 missense probably benign 0.45
R7917:Adam20 UTSW 8 40796371 missense probably damaging 1.00
R7930:Adam20 UTSW 8 40797070 missense probably benign 0.00
R7954:Adam20 UTSW 8 40796544 missense probably damaging 1.00
R7964:Adam20 UTSW 8 40796907 missense probably damaging 0.97
R8006:Adam20 UTSW 8 40795907 missense probably benign 0.02
R8125:Adam20 UTSW 8 40794936 missense probably benign 0.01
R8134:Adam20 UTSW 8 40796064 missense probably benign 0.02
R8435:Adam20 UTSW 8 40795035 missense probably damaging 1.00
X0062:Adam20 UTSW 8 40797024 missense probably benign 0.03
Posted On2015-04-16