Incidental Mutation 'IGL02149:Adam10'
ID281917
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adam10
Ensembl Gene ENSMUSG00000054693
Gene Namea disintegrin and metallopeptidase domain 10
Synonymskuzbanian, 1700031C13Rik, kuz
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02149
Quality Score
Status
Chromosome9
Chromosomal Location70678997-70780229 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 70703431 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Leucine at position 67 (H67L)
Ref Sequence ENSEMBL: ENSMUSP00000117162 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067880] [ENSMUST00000140205] [ENSMUST00000144537]
Predicted Effect possibly damaging
Transcript: ENSMUST00000067880
AA Change: H67L

PolyPhen 2 Score 0.610 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000063839
Gene: ENSMUSG00000054693
AA Change: H67L

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:Pep_M12B_propep 27 156 7.5e-15 PFAM
Pfam:Reprolysin_5 219 434 1e-33 PFAM
Pfam:Reprolysin_4 219 453 2.1e-29 PFAM
Pfam:Reprolysin 221 457 6.1e-8 PFAM
Pfam:Reprolysin_2 240 447 6.5e-39 PFAM
Pfam:Reprolysin_3 244 395 4.6e-27 PFAM
DISIN 467 551 5.99e-23 SMART
transmembrane domain 675 697 N/A INTRINSIC
low complexity region 709 739 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000140205
AA Change: H67L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000117162
Gene: ENSMUSG00000054693
AA Change: H67L

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:Pep_M12B_propep 26 156 5.8e-18 PFAM
Pfam:Reprolysin_5 219 434 2.6e-34 PFAM
Pfam:Reprolysin_4 219 453 4e-30 PFAM
Pfam:Reprolysin 221 457 4.4e-10 PFAM
Pfam:Reprolysin_2 240 447 5.1e-36 PFAM
Pfam:Reprolysin_3 244 395 1.7e-24 PFAM
DISIN 467 513 1.48e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000144537
SMART Domains Protein: ENSMUSP00000116867
Gene: ENSMUSG00000054693

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:Reprolysin_5 76 145 5.8e-9 PFAM
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 enzyme that is involved in the proteolytic release of membrane-bound proteins in a process called ectodomain shedding. Mice lacking the encoded protein die in utero with multiple defects of the developing central nervous system, somites, and cardiovascular system. [provided by RefSeq, May 2016]
PHENOTYPE: Targeted inactivation of this gene leads to embryonic lethality at E9.5. Embryos homozygous for a knock-out allele display decreased size and multiple abnormalities related to Notch signaling, including defects of the developing central nervous system, somites, and cardiovascular system. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb1 C T 15: 74,540,477 T435I probably damaging Het
Adgrd1 T A 5: 129,179,261 F652Y probably damaging Het
Adgrl4 T A 3: 151,500,354 F250Y possibly damaging Het
Aebp2 C T 6: 140,642,284 A360V probably benign Het
AW551984 A C 9: 39,592,924 M582R probably benign Het
B430306N03Rik T C 17: 48,316,992 V107A probably benign Het
Cage1 T C 13: 38,022,529 N447D probably damaging Het
Col17a1 T C 19: 47,668,632 D524G probably benign Het
Dpp6 A T 5: 27,538,024 I218F probably benign Het
Ep300 T G 15: 81,628,420 probably benign Het
Ephb2 C T 4: 136,693,914 C375Y probably damaging Het
Fastk A G 5: 24,444,053 V112A probably damaging Het
Fbxo11 T A 17: 87,993,759 R775S possibly damaging Het
Fbxw20 A G 9: 109,233,818 probably null Het
Hamp2 G T 7: 30,922,697 A50E probably damaging Het
Iltifb C A 10: 118,294,997 probably benign Het
Ints1 G A 5: 139,751,960 R2139C probably damaging Het
Itgae T A 11: 73,103,894 V24E probably benign Het
Jakmip3 G A 7: 139,007,346 V60M possibly damaging Het
Kcnk10 A C 12: 98,518,840 probably benign Het
Klra1 A T 6: 130,375,330 C150S probably damaging Het
Lhx9 A T 1: 138,831,434 V376E probably damaging Het
Mdm1 T A 10: 118,148,065 F199I probably damaging Het
Nipal3 G T 4: 135,466,852 T290K possibly damaging Het
Obsl1 C T 1: 75,503,820 E387K probably damaging Het
Olfr902 A G 9: 38,449,397 H175R probably damaging Het
Oxct1 A G 15: 4,091,229 Y265C probably damaging Het
Pccb G A 9: 100,985,190 H411Y probably damaging Het
Pkp1 A G 1: 135,886,747 S279P probably benign Het
Prdm14 C A 1: 13,125,439 G133C probably benign Het
Prkaa2 A T 4: 105,040,088 N309K probably benign Het
Shc2 T C 10: 79,622,268 D527G probably damaging Het
Shkbp1 C T 7: 27,342,639 probably benign Het
Skil T C 3: 31,097,707 V126A possibly damaging Het
Slc25a36 A T 9: 97,093,069 probably benign Het
Slc2a13 T C 15: 91,343,721 T423A probably benign Het
Spty2d1 A G 7: 47,008,144 probably benign Het
Stag1 A G 9: 100,887,389 D519G probably benign Het
Tmprss2 G T 16: 97,599,279 probably benign Het
Trim66 G T 7: 109,460,902 T759K possibly damaging Het
Trpc4ap C A 2: 155,639,547 A530S probably damaging Het
Ttn A T 2: 76,811,755 D11625E probably damaging Het
Ube4b T C 4: 149,398,684 I42M possibly damaging Het
Ubxn10 A G 4: 138,721,273 S31P probably benign Het
Ubxn7 A G 16: 32,375,270 Y220C probably damaging Het
Vmn1r234 A G 17: 21,229,007 Y61C probably benign Het
Other mutations in Adam10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00570:Adam10 APN 9 70718746 missense possibly damaging 0.92
IGL00582:Adam10 APN 9 70766895 missense possibly damaging 0.54
IGL02021:Adam10 APN 9 70743909 missense possibly damaging 0.60
IGL03310:Adam10 APN 9 70778089 missense probably damaging 1.00
PIT4382001:Adam10 UTSW 9 70766081 missense probably damaging 1.00
R0110:Adam10 UTSW 9 70748248 missense probably damaging 1.00
R0469:Adam10 UTSW 9 70748248 missense probably damaging 1.00
R0510:Adam10 UTSW 9 70748248 missense probably damaging 1.00
R0555:Adam10 UTSW 9 70754234 missense probably damaging 1.00
R0671:Adam10 UTSW 9 70765941 splice site probably benign
R0735:Adam10 UTSW 9 70748251 missense possibly damaging 0.81
R0785:Adam10 UTSW 9 70767888 missense possibly damaging 0.86
R0881:Adam10 UTSW 9 70746237 missense probably damaging 1.00
R1019:Adam10 UTSW 9 70761640 missense probably benign 0.00
R1169:Adam10 UTSW 9 70746292 missense probably damaging 0.97
R1779:Adam10 UTSW 9 70776369 splice site probably benign
R2048:Adam10 UTSW 9 70740075 missense possibly damaging 0.89
R2911:Adam10 UTSW 9 70718723 missense probably damaging 0.99
R3890:Adam10 UTSW 9 70768854 missense probably benign 0.00
R4608:Adam10 UTSW 9 70743891 missense probably damaging 0.99
R4609:Adam10 UTSW 9 70740143 missense probably damaging 1.00
R4689:Adam10 UTSW 9 70765954 missense possibly damaging 0.51
R5135:Adam10 UTSW 9 70766074 missense probably damaging 1.00
R5496:Adam10 UTSW 9 70722739 missense probably damaging 1.00
R5499:Adam10 UTSW 9 70740117 missense probably benign 0.16
R6730:Adam10 UTSW 9 70740176 critical splice donor site probably null
R6825:Adam10 UTSW 9 70761602 missense probably damaging 1.00
R6987:Adam10 UTSW 9 70722696 missense probably benign
R7616:Adam10 UTSW 9 70722711 missense possibly damaging 0.81
R7829:Adam10 UTSW 9 70766927 nonsense probably null
R7908:Adam10 UTSW 9 70761764 missense possibly damaging 0.83
R8445:Adam10 UTSW 9 70766921 missense probably benign 0.00
R8447:Adam10 UTSW 9 70748118 missense probably damaging 0.97
X0020:Adam10 UTSW 9 70740143 missense probably damaging 1.00
X0064:Adam10 UTSW 9 70765952 missense probably damaging 0.98
Posted On2015-04-16