Incidental Mutation 'R5306:Adam29'
ID 404569
Institutional Source Beutler Lab
Gene Symbol Adam29
Ensembl Gene ENSMUSG00000046258
Gene Name a disintegrin and metallopeptidase domain 29
Synonyms
MMRRC Submission 042889-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R5306 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 56323947-56359983 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 56324792 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 554 (D554V)
Ref Sequence ENSEMBL: ENSMUSP00000054292 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053441]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000053441
AA Change: D554V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000054292
Gene: ENSMUSG00000046258
AA Change: D554V

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
Pfam:Pep_M12B_propep 33 159 1.9e-17 PFAM
Pfam:Reprolysin_4 203 394 3.3e-10 PFAM
Pfam:Reprolysin_5 203 403 6.9e-15 PFAM
Pfam:Reprolysin 205 395 1.5e-48 PFAM
Pfam:Reprolysin_2 226 386 7.4e-11 PFAM
Pfam:Reprolysin_3 228 349 1.4e-11 PFAM
DISIN 412 487 4.26e-37 SMART
ACR 488 624 2.85e-58 SMART
low complexity region 642 651 N/A INTRINSIC
transmembrane domain 683 705 N/A INTRINSIC
low complexity region 713 746 N/A INTRINSIC
Meta Mutation Damage Score 0.8231 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 97% (64/66)
MGI Phenotype FUNCTION: This gene encodes a member of a disintegrin and metalloprotease (ADAM) family of endoproteases that play important roles in various biological processes including cell signaling, adhesion and migration. The encoded preproprotein undergoes proteolytic processing to generate a mature, functional protein. [provided by RefSeq, May 2016]
Allele List at MGI

All alleles(1) : Targeted, knock-out(1)

Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd44 G A 1: 54,965,362 (GRCm39) probably benign Het
Api5 A T 2: 94,253,811 (GRCm39) C297* probably null Het
Asb14 G A 14: 26,633,866 (GRCm39) C357Y probably damaging Het
Brd10 A G 19: 29,707,230 (GRCm39) probably benign Het
Brdt T A 5: 107,493,010 (GRCm39) D112E probably damaging Het
Capsl C A 15: 9,457,876 (GRCm39) Q32K probably benign Het
Ccdc106 A G 7: 5,061,096 (GRCm39) D81G probably damaging Het
Ccdc121rt3 T C 5: 112,502,910 (GRCm39) R265G probably benign Het
Cep104 C A 4: 154,090,699 (GRCm39) T884K probably benign Het
Cmbl T C 15: 31,582,215 (GRCm39) Y71H probably damaging Het
Crybg3 A T 16: 59,380,356 (GRCm39) probably benign Het
Dynlt1c T C 17: 6,869,210 (GRCm39) M1T probably null Het
Erbb2 T C 11: 98,319,032 (GRCm39) S574P probably benign Het
Exosc10 T C 4: 148,646,849 (GRCm39) V153A probably benign Het
Faxc G T 4: 21,931,557 (GRCm39) probably benign Het
Fcgbp A G 7: 27,791,243 (GRCm39) T835A probably damaging Het
Fmo5 G T 3: 97,549,076 (GRCm39) M241I probably benign Het
Gabra1 A C 11: 42,024,379 (GRCm39) I432S probably benign Het
Gfap A G 11: 102,786,574 (GRCm39) probably null Het
Gm11595 G A 11: 99,663,381 (GRCm39) R100C unknown Het
Gm12185 T A 11: 48,806,382 (GRCm39) M270L probably benign Het
Gm14443 T C 2: 175,011,372 (GRCm39) N358S possibly damaging Het
Gpr3 C T 4: 132,938,490 (GRCm39) V61M probably damaging Het
Herc2 C T 7: 55,834,709 (GRCm39) T3229M probably damaging Het
Ifit3 A G 19: 34,565,207 (GRCm39) Y251C probably damaging Het
Inf2 G A 12: 112,567,987 (GRCm39) V180I probably benign Het
Ints11 T C 4: 155,959,665 (GRCm39) Y91H probably damaging Het
Ints4 A C 7: 97,158,885 (GRCm39) D419A probably damaging Het
Kmt2e T C 5: 23,704,331 (GRCm39) S1175P probably damaging Het
Mki67 A T 7: 135,315,730 (GRCm39) V44E probably damaging Het
Mrgprb13 A T 7: 47,961,940 (GRCm39) noncoding transcript Het
Myh2 T C 11: 67,077,382 (GRCm39) L839P probably damaging Het
Nos1ap T A 1: 170,176,968 (GRCm39) K145M probably damaging Het
Or4l1 A G 14: 50,167,007 (GRCm39) probably benign Het
Or6c70 A C 10: 129,709,810 (GRCm39) I272R probably damaging Het
Pced1a T A 2: 130,261,091 (GRCm39) H422L probably benign Het
Plpp1 G T 13: 112,988,089 (GRCm39) probably null Het
Plxna4 T C 6: 32,183,056 (GRCm39) Y949C probably damaging Het
Polg2 G A 11: 106,669,796 (GRCm39) T158I probably damaging Het
Prss38 A T 11: 59,263,821 (GRCm39) I297K probably benign Het
Psph A G 5: 129,846,431 (GRCm39) L98P probably damaging Het
Rab11b G A 17: 33,979,243 (GRCm39) probably benign Het
Rsf1 CGGCGGC CGGCGGCGGGGGCGGC 7: 97,229,136 (GRCm39) probably benign Het
Serpine3 G A 14: 62,908,382 (GRCm39) A137T probably damaging Het
Sh3bp4 T C 1: 89,071,997 (GRCm39) F282L probably damaging Het
Sh3bp5 C A 14: 31,099,452 (GRCm39) R265L probably benign Het
Skic3 G A 13: 76,295,886 (GRCm39) E1050K possibly damaging Het
Slco2b1 T A 7: 99,338,198 (GRCm39) Y109F possibly damaging Het
Slfn10-ps T A 11: 82,926,355 (GRCm39) noncoding transcript Het
Smc5 A G 19: 23,237,009 (GRCm39) probably null Het
Smyd4 A G 11: 75,292,984 (GRCm39) N638S probably benign Het
Stxbp5 T C 10: 9,675,735 (GRCm39) E628G probably damaging Het
Tmem236 A T 2: 14,223,975 (GRCm39) K255* probably null Het
Ttc29 T A 8: 78,978,539 (GRCm39) probably null Het
Tyr A G 7: 87,087,222 (GRCm39) I430T probably damaging Het
Uckl1 A G 2: 181,216,160 (GRCm39) probably null Het
Vmn2r52 A C 7: 9,904,672 (GRCm39) I389R possibly damaging Het
Wdr62 A T 7: 29,964,688 (GRCm39) F352Y possibly damaging Het
Wdr70 T C 15: 7,953,754 (GRCm39) D379G probably benign Het
Zfp408 T A 2: 91,476,690 (GRCm39) M155L probably benign Het
Zfp459 T A 13: 67,561,249 (GRCm39) Q66H probably damaging Het
Zfp870 C A 17: 33,102,627 (GRCm39) G234V probably damaging Het
Other mutations in Adam29
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01305:Adam29 APN 8 56,324,879 (GRCm39) missense probably benign 0.01
IGL01406:Adam29 APN 8 56,324,874 (GRCm39) missense probably damaging 1.00
IGL01511:Adam29 APN 8 56,324,456 (GRCm39) missense probably damaging 1.00
IGL01869:Adam29 APN 8 56,324,732 (GRCm39) missense probably damaging 0.99
IGL01894:Adam29 APN 8 56,324,865 (GRCm39) missense probably benign 0.00
IGL02023:Adam29 APN 8 56,325,519 (GRCm39) missense probably benign 0.12
IGL02030:Adam29 APN 8 56,325,157 (GRCm39) missense probably benign 0.35
IGL02071:Adam29 APN 8 56,324,589 (GRCm39) missense possibly damaging 0.95
IGL02094:Adam29 APN 8 56,324,480 (GRCm39) missense possibly damaging 0.48
IGL02108:Adam29 APN 8 56,325,346 (GRCm39) missense probably damaging 0.98
IGL02125:Adam29 APN 8 56,324,974 (GRCm39) nonsense probably null
IGL02330:Adam29 APN 8 56,325,398 (GRCm39) missense probably benign 0.02
IGL02332:Adam29 APN 8 56,324,775 (GRCm39) missense probably damaging 1.00
IGL02548:Adam29 APN 8 56,325,902 (GRCm39) nonsense probably null
IGL02960:Adam29 APN 8 56,325,701 (GRCm39) nonsense probably null
IGL03030:Adam29 APN 8 56,326,100 (GRCm39) missense probably damaging 1.00
ANU22:Adam29 UTSW 8 56,324,879 (GRCm39) missense probably benign 0.01
D4043:Adam29 UTSW 8 56,325,496 (GRCm39) nonsense probably null
IGL02835:Adam29 UTSW 8 56,326,173 (GRCm39) missense probably damaging 1.00
R0294:Adam29 UTSW 8 56,326,311 (GRCm39) missense probably benign 0.25
R0449:Adam29 UTSW 8 56,325,716 (GRCm39) missense probably benign 0.01
R0607:Adam29 UTSW 8 56,326,310 (GRCm39) missense probably damaging 1.00
R0626:Adam29 UTSW 8 56,324,612 (GRCm39) missense probably benign 0.24
R1296:Adam29 UTSW 8 56,324,754 (GRCm39) nonsense probably null
R1752:Adam29 UTSW 8 56,325,309 (GRCm39) missense probably damaging 0.98
R1930:Adam29 UTSW 8 56,326,124 (GRCm39) missense probably damaging 1.00
R1931:Adam29 UTSW 8 56,326,124 (GRCm39) missense probably damaging 1.00
R2397:Adam29 UTSW 8 56,325,933 (GRCm39) missense probably benign 0.04
R2764:Adam29 UTSW 8 56,324,791 (GRCm39) missense probably damaging 1.00
R4052:Adam29 UTSW 8 56,325,317 (GRCm39) missense probably damaging 1.00
R4978:Adam29 UTSW 8 56,324,436 (GRCm39) missense probably damaging 0.98
R6383:Adam29 UTSW 8 56,324,543 (GRCm39) missense probably damaging 0.99
R6528:Adam29 UTSW 8 56,325,596 (GRCm39) missense possibly damaging 0.93
R6579:Adam29 UTSW 8 56,325,779 (GRCm39) missense probably damaging 1.00
R6707:Adam29 UTSW 8 56,325,135 (GRCm39) missense probably damaging 1.00
R7076:Adam29 UTSW 8 56,324,694 (GRCm39) missense probably damaging 1.00
R7099:Adam29 UTSW 8 56,324,439 (GRCm39) missense probably benign 0.01
R7177:Adam29 UTSW 8 56,325,659 (GRCm39) missense probably benign 0.30
R7320:Adam29 UTSW 8 56,325,749 (GRCm39) missense possibly damaging 0.50
R7420:Adam29 UTSW 8 56,325,933 (GRCm39) missense probably benign 0.04
R7438:Adam29 UTSW 8 56,324,609 (GRCm39) missense probably damaging 0.99
R7476:Adam29 UTSW 8 56,326,230 (GRCm39) missense probably damaging 0.97
R7524:Adam29 UTSW 8 56,325,395 (GRCm39) missense probably damaging 1.00
R8066:Adam29 UTSW 8 56,325,703 (GRCm39) missense probably benign 0.11
R8111:Adam29 UTSW 8 56,324,585 (GRCm39) missense probably benign 0.00
R8221:Adam29 UTSW 8 56,325,463 (GRCm39) missense probably benign 0.02
R8350:Adam29 UTSW 8 56,325,224 (GRCm39) missense possibly damaging 0.89
R8353:Adam29 UTSW 8 56,326,196 (GRCm39) missense possibly damaging 0.82
R8453:Adam29 UTSW 8 56,326,196 (GRCm39) missense possibly damaging 0.82
R8723:Adam29 UTSW 8 56,324,513 (GRCm39) missense probably damaging 1.00
R8752:Adam29 UTSW 8 56,325,328 (GRCm39) nonsense probably null
R8809:Adam29 UTSW 8 56,325,659 (GRCm39) missense probably benign 0.30
R9025:Adam29 UTSW 8 56,325,196 (GRCm39) nonsense probably null
R9388:Adam29 UTSW 8 56,325,285 (GRCm39) missense probably damaging 1.00
R9612:Adam29 UTSW 8 56,325,118 (GRCm39) missense possibly damaging 0.77
X0011:Adam29 UTSW 8 56,326,203 (GRCm39) missense probably benign 0.02
Z1177:Adam29 UTSW 8 56,324,531 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AATGCAGGTGTACAGTTGCTGTC -3'
(R):5'- AAGATGGAATTCCCTGTGGG -3'

Sequencing Primer
(F):5'- CAGATATGATTTTGCTCACACTCTG -3'
(R):5'- GGGGTCTCAGCCTATTGC -3'
Posted On 2016-07-22