Incidental Mutation 'IGL02030:Adam29'
ID184328
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adam29
Ensembl Gene ENSMUSG00000046258
Gene Namea disintegrin and metallopeptidase domain 29
Synonyms
Accession Numbers

Genbank: NM_175939; MGI: 2676326

Is this an essential gene? Probably non essential (E-score: 0.087) question?
Stock #IGL02030
Quality Score
Status
Chromosome8
Chromosomal Location55870912-55906948 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 55872122 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Isoleucine at position 432 (M432I)
Ref Sequence ENSEMBL: ENSMUSP00000054292 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053441]
Predicted Effect probably benign
Transcript: ENSMUST00000053441
AA Change: M432I

PolyPhen 2 Score 0.351 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000054292
Gene: ENSMUSG00000046258
AA Change: M432I

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
Coding Region Coverage
Validation Efficiency
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam26a T C 8: 43,568,857 D532G probably benign Het
Cbs A G 17: 31,625,489 probably null Het
Ccer1 A G 10: 97,693,610 Y45C unknown Het
Clu G A 14: 65,975,791 G209S probably benign Het
Ddx17 T C 15: 79,530,376 D530G probably benign Het
Ddx4 T C 13: 112,624,777 probably benign Het
Fry C T 5: 150,471,618 probably benign Het
Fut10 C T 8: 31,235,978 Q254* probably null Het
Gucy2e A G 11: 69,223,816 F1002S probably damaging Het
Hsd3b6 T C 3: 98,806,173 Y270C probably benign Het
Jup A G 11: 100,376,991 I502T probably damaging Het
Lrrc71 T A 3: 87,745,224 probably null Het
Mei1 T C 15: 82,115,743 V1127A probably benign Het
Ncstn A T 1: 172,072,457 probably benign Het
Nin T C 12: 70,045,268 R756G probably damaging Het
Notch2 C A 3: 98,099,421 probably null Het
Oacyl T C 18: 65,737,910 V394A probably damaging Het
Olfr1444 T C 19: 12,862,435 F220S probably benign Het
Olfr348 A G 2: 36,787,398 Y291C probably damaging Het
Olfr524 A G 7: 140,202,632 I46T probably damaging Het
Parn A G 16: 13,664,650 probably null Het
Rspo3 T G 10: 29,500,048 E173A probably damaging Het
Rusc2 T A 4: 43,416,095 V467E possibly damaging Het
Sema7a G A 9: 57,955,140 E209K possibly damaging Het
Uchl4 T C 9: 64,235,629 S131P probably benign Het
Usp54 T C 14: 20,565,946 I769V probably benign Het
Xirp2 T C 2: 67,508,981 M522T probably benign Het
Other mutations in Adam29
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01305:Adam29 APN 8 55871844 missense probably benign 0.01
IGL01406:Adam29 APN 8 55871839 missense probably damaging 1.00
IGL01511:Adam29 APN 8 55871421 missense probably damaging 1.00
IGL01869:Adam29 APN 8 55871697 missense probably damaging 0.99
IGL01894:Adam29 APN 8 55871830 missense probably benign 0.00
IGL02023:Adam29 APN 8 55872484 missense probably benign 0.12
IGL02071:Adam29 APN 8 55871554 missense possibly damaging 0.95
IGL02094:Adam29 APN 8 55871445 missense possibly damaging 0.48
IGL02108:Adam29 APN 8 55872311 missense probably damaging 0.98
IGL02125:Adam29 APN 8 55871939 nonsense probably null
IGL02330:Adam29 APN 8 55872363 missense probably benign 0.02
IGL02332:Adam29 APN 8 55871740 missense probably damaging 1.00
IGL02548:Adam29 APN 8 55872867 nonsense probably null
IGL02960:Adam29 APN 8 55872666 nonsense probably null
IGL03030:Adam29 APN 8 55873065 missense probably damaging 1.00
ANU22:Adam29 UTSW 8 55871844 missense probably benign 0.01
D4043:Adam29 UTSW 8 55872461 nonsense probably null
IGL02835:Adam29 UTSW 8 55873138 missense probably damaging 1.00
R0294:Adam29 UTSW 8 55873276 missense probably benign 0.25
R0449:Adam29 UTSW 8 55872681 missense probably benign 0.01
R0607:Adam29 UTSW 8 55873275 missense probably damaging 1.00
R0626:Adam29 UTSW 8 55871577 missense probably benign 0.24
R1296:Adam29 UTSW 8 55871719 nonsense probably null
R1752:Adam29 UTSW 8 55872274 missense probably damaging 0.98
R1930:Adam29 UTSW 8 55873089 missense probably damaging 1.00
R1931:Adam29 UTSW 8 55873089 missense probably damaging 1.00
R2397:Adam29 UTSW 8 55872898 missense probably benign 0.04
R2764:Adam29 UTSW 8 55871756 missense probably damaging 1.00
R4052:Adam29 UTSW 8 55872282 missense probably damaging 1.00
R4978:Adam29 UTSW 8 55871401 missense probably damaging 0.98
R5306:Adam29 UTSW 8 55871757 missense probably damaging 1.00
R6383:Adam29 UTSW 8 55871508 missense probably damaging 0.99
R6528:Adam29 UTSW 8 55872561 missense possibly damaging 0.93
R6579:Adam29 UTSW 8 55872744 missense probably damaging 1.00
R6707:Adam29 UTSW 8 55872100 missense probably damaging 1.00
R7076:Adam29 UTSW 8 55871659 missense probably damaging 1.00
R7099:Adam29 UTSW 8 55871404 missense probably benign 0.01
R7177:Adam29 UTSW 8 55872624 missense probably benign 0.30
R7320:Adam29 UTSW 8 55872714 missense possibly damaging 0.50
R7420:Adam29 UTSW 8 55872898 missense probably benign 0.04
R7438:Adam29 UTSW 8 55871574 missense probably damaging 0.99
R7476:Adam29 UTSW 8 55873195 missense probably damaging 0.97
R7524:Adam29 UTSW 8 55872360 missense probably damaging 1.00
R8066:Adam29 UTSW 8 55872668 missense probably benign 0.11
R8111:Adam29 UTSW 8 55871550 missense probably benign 0.00
R8221:Adam29 UTSW 8 55872428 missense probably benign 0.02
R8350:Adam29 UTSW 8 55872189 missense possibly damaging 0.89
R8353:Adam29 UTSW 8 55873161 missense possibly damaging 0.82
R8453:Adam29 UTSW 8 55873161 missense possibly damaging 0.82
R8723:Adam29 UTSW 8 55871478 missense probably damaging 1.00
R8752:Adam29 UTSW 8 55872293 nonsense probably null
R8809:Adam29 UTSW 8 55872624 missense probably benign 0.30
X0011:Adam29 UTSW 8 55873168 missense probably benign 0.02
Z1177:Adam29 UTSW 8 55871496 missense probably damaging 1.00
Posted On2014-05-07