Incidental Mutation 'IGL02071:Adam29'
ID185813
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: 0.109) question?
Stock #IGL02071
Quality Score
Status
Chromosome8
Chromosomal Location55870912-55906948 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 55871554 bp
ZygosityHeterozygous
Amino Acid Change Valine to Leucine at position 622 (V622L)
Ref Sequence ENSEMBL: ENSMUSP00000054292 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053441]
Predicted Effect possibly damaging
Transcript: ENSMUST00000053441
AA Change: V622L

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000054292
Gene: ENSMUSG00000046258
AA Change: V622L

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abat C T 16: 8,582,812 R92C probably damaging Het
Bzw2 T C 12: 36,107,503 H321R probably benign Het
C2cd2 C T 16: 97,870,232 R489Q probably damaging Het
Ccdc129 C A 6: 55,967,725 S477* probably null Het
Cdh23 G A 10: 60,523,560 T253I possibly damaging Het
Col4a3 T G 1: 82,660,887 probably null Het
D630039A03Rik T C 4: 57,910,309 T168A possibly damaging Het
Dnajc19 A G 3: 34,078,765 L97P possibly damaging Het
Dpep2 A T 8: 105,985,144 H550Q probably benign Het
Dvl2 C A 11: 70,004,800 probably null Het
Fam234b A G 6: 135,227,151 probably null Het
Fxyd5 A G 7: 31,040,188 V32A possibly damaging Het
Mak16 A T 8: 31,160,529 S251T probably benign Het
Med10 T C 13: 69,815,628 V116A probably benign Het
Mycbp2 G A 14: 103,154,907 R50* probably null Het
Nckap5 G A 1: 125,981,568 P272L probably damaging Het
Nf1 T A 11: 79,444,121 V933E possibly damaging Het
Nrxn2 T A 19: 6,481,753 V749E probably damaging Het
Olfr1042 C A 2: 86,159,875 R165L probably benign Het
Olfr78 A C 7: 102,742,148 V285G probably damaging Het
Osbpl9 T C 4: 109,071,979 Y417C probably damaging Het
Otop1 G A 5: 38,287,983 A162T probably damaging Het
Patl1 C A 19: 11,939,690 P634T probably damaging Het
Ppl A T 16: 5,113,072 S28T probably benign Het
Prkar2b C T 12: 31,963,017 G367R probably damaging Het
Rbl2 G A 8: 91,102,198 V576I probably damaging Het
Rgl3 C T 9: 21,988,263 A53T probably benign Het
Rp1 T A 1: 4,345,310 I1860F possibly damaging Het
Sbno2 A T 10: 80,060,641 D877E probably damaging Het
Sectm1b C T 11: 121,055,935 V45I probably damaging Het
Sfmbt2 G A 2: 10,577,952 V741I probably benign Het
Sugt1 T A 14: 79,610,283 L191* probably null Het
Tcf21 A T 10: 22,817,810 V156E possibly damaging Het
Tep1 T A 14: 50,834,049 R2046S possibly damaging Het
Tmem181a T C 17: 6,297,256 F241S probably damaging Het
Traf6 G A 2: 101,696,793 C296Y probably benign Het
Trim40 A G 17: 36,889,178 S3P probably benign Het
Ttll2 A T 17: 7,351,731 Y266N probably damaging Het
Vps54 A G 11: 21,275,071 N177S probably null 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
IGL02030:Adam29 APN 8 55872122 missense probably benign 0.35
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
X0011:Adam29 UTSW 8 55873168 missense probably benign 0.02
Posted On2014-05-07