Incidental Mutation 'IGL03395:Adam11'
ID421235
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adam11
Ensembl Gene ENSMUSG00000020926
Gene Namea disintegrin and metallopeptidase domain 11
SynonymsMdc
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03395
Quality Score
Status
Chromosome11
Chromosomal Location102761439-102780262 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 102772920 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 308 (D308G)
Ref Sequence ENSEMBL: ENSMUSP00000099370 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068150] [ENSMUST00000103081]
Predicted Effect probably damaging
Transcript: ENSMUST00000068150
AA Change: D308G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000069466
Gene: ENSMUSG00000020926
AA Change: D308G

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:Pep_M12B_propep 50 193 5.7e-29 PFAM
Pfam:Reprolysin_5 241 390 2.1e-9 PFAM
Pfam:Reprolysin 243 442 1.1e-68 PFAM
Pfam:Reprolysin_3 267 378 1.3e-9 PFAM
DISIN 457 533 3.91e-36 SMART
ACR 534 673 2.76e-56 SMART
EGF 680 714 2.32e-1 SMART
transmembrane domain 740 762 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000103081
AA Change: D308G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000099370
Gene: ENSMUSG00000020926
AA Change: D308G

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:Pep_M12B_propep 49 193 1.1e-28 PFAM
Pfam:Reprolysin_5 241 390 2.3e-9 PFAM
Pfam:Reprolysin 243 442 5.3e-62 PFAM
Pfam:Reprolysin_3 267 385 4.5e-9 PFAM
DISIN 457 533 3.91e-36 SMART
ACR 534 673 2.76e-56 SMART
EGF 680 714 2.32e-1 SMART
transmembrane domain 740 762 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124879
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126024
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134296
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135513
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141563
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142912
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143269
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. The protein encoded by this gene is believed to lack metalloproteinase activity due to the lack of a critical catalytic motif. Mice lacking the encoded protein exhibit defects in spatial learning, motor coordination and altered perception of pain. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar processing. [provided by RefSeq, May 2016]
PHENOTYPE: Mice homozygous for a targeted disruption of this gene are viable and overtly normal but show impaired hippocampus-dependent spatial learning and cerebellum-dependent motor coordination when tested using water maze and rotating rod tasks. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430531B16Rik G T 7: 139,976,676 probably benign Het
9330182L06Rik A T 5: 9,422,359 Q352L probably damaging Het
Adgrg3 A T 8: 95,035,073 I155F probably damaging Het
Ado T C 10: 67,548,538 Y79C probably benign Het
Aox1 T C 1: 58,068,725 probably benign Het
Bicd2 T A 13: 49,375,258 D165E probably damaging Het
Ccdc124 A C 8: 70,868,607 M163R probably benign Het
Ceacam5 T C 7: 17,745,379 probably benign Het
Cenpq A G 17: 40,923,558 L247P probably damaging Het
Crat A G 2: 30,404,966 V479A probably benign Het
Egfr T C 11: 16,910,261 probably benign Het
Emc9 C T 14: 55,584,740 A72T probably benign Het
Fbxo5 G A 10: 5,801,935 S226F probably benign Het
Gm42688 A C 6: 83,108,371 E737D possibly damaging Het
Got1l1 G T 8: 27,200,857 H54Q probably benign Het
Grid2 G A 6: 63,909,069 V150I possibly damaging Het
Klc4 C T 17: 46,632,863 V506M probably damaging Het
Lrrc8c A G 5: 105,606,629 N90S probably benign Het
Lrrk2 T A 15: 91,797,414 probably null Het
Mbd6 G A 10: 127,283,417 R950C probably damaging Het
Nol11 A G 11: 107,175,722 V414A probably benign Het
Olfr18 A T 9: 20,314,551 M123K probably damaging Het
Pcnt T C 10: 76,436,491 E177G possibly damaging Het
Pcnx2 G T 8: 125,887,523 D396E probably benign Het
Pcyt2 A T 11: 120,613,050 probably null Het
Pds5a T C 5: 65,652,449 D390G possibly damaging Het
Pik3r2 T C 8: 70,772,355 T155A probably benign Het
Rab31 T A 17: 65,696,367 H95L probably benign Het
Rfx5 C T 3: 94,957,802 R259* probably null Het
Slc6a17 T C 3: 107,477,306 D285G probably damaging Het
Spats2l A T 1: 57,938,016 I318F probably damaging Het
Tcf12 A G 9: 71,876,022 S361P probably damaging Het
Other mutations in Adam11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00090:Adam11 APN 11 102776831 missense probably benign 0.40
IGL00497:Adam11 APN 11 102770147 missense probably damaging 1.00
IGL00570:Adam11 APN 11 102776350 missense possibly damaging 0.76
IGL01875:Adam11 APN 11 102772856 missense probably damaging 1.00
IGL01945:Adam11 APN 11 102772910 missense probably damaging 0.99
IGL02266:Adam11 APN 11 102772667 missense probably damaging 1.00
IGL02702:Adam11 APN 11 102777038 missense probably benign 0.26
R0091:Adam11 UTSW 11 102772839 missense probably damaging 1.00
R0135:Adam11 UTSW 11 102776573 missense probably damaging 1.00
R1068:Adam11 UTSW 11 102776378 missense probably damaging 1.00
R1529:Adam11 UTSW 11 102775113 critical splice donor site probably null
R2197:Adam11 UTSW 11 102769924 missense possibly damaging 0.94
R2357:Adam11 UTSW 11 102774508 missense probably benign
R3082:Adam11 UTSW 11 102770117 splice site probably benign
R3784:Adam11 UTSW 11 102774367 critical splice donor site probably null
R5254:Adam11 UTSW 11 102774272 nonsense probably null
R5367:Adam11 UTSW 11 102773653 missense probably benign 0.00
R5444:Adam11 UTSW 11 102772848 missense probably damaging 1.00
R5699:Adam11 UTSW 11 102773640 missense probably benign 0.00
R5881:Adam11 UTSW 11 102773810 missense probably benign 0.17
R6193:Adam11 UTSW 11 102771261 missense probably benign
R6422:Adam11 UTSW 11 102774283 missense possibly damaging 0.95
R6798:Adam11 UTSW 11 102777008 missense probably damaging 1.00
R6822:Adam11 UTSW 11 102776675 missense possibly damaging 0.68
R7173:Adam11 UTSW 11 102771931 missense possibly damaging 0.93
R7207:Adam11 UTSW 11 102772057 missense probably benign 0.03
R7719:Adam11 UTSW 11 102772477 missense probably benign 0.01
X0023:Adam11 UTSW 11 102774630 critical splice acceptor site probably null
Posted On2016-08-02