Incidental Mutation 'IGL01896:Plxdc1'
ID179393
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Plxdc1
Ensembl Gene ENSMUSG00000017417
Gene Nameplexin domain containing 1
Synonyms2410003I07Rik, Tem7
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.505) question?
Stock #IGL01896
Quality Score
Status
Chromosome11
Chromosomal Location97923238-97986444 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 97924582 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 470 (M470K)
Ref Sequence ENSEMBL: ENSMUSP00000017561 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017561] [ENSMUST00000107565]
Predicted Effect probably damaging
Transcript: ENSMUST00000017561
AA Change: M470K

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000017561
Gene: ENSMUSG00000017417
AA Change: M470K

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
PSI 304 349 5.98e-2 SMART
transmembrane domain 425 447 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000107565
AA Change: M477K

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000103191
Gene: ENSMUSG00000017417
AA Change: M477K

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
PSI 311 356 5.98e-2 SMART
transmembrane domain 432 454 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330159F19Rik T A 10: 29,225,158 F509Y possibly damaging Het
Acot11 T A 4: 106,771,367 I75F probably damaging Het
Atp1a2 T A 1: 172,286,011 N427Y probably damaging Het
Cd19 T C 7: 126,414,350 D89G possibly damaging Het
Clca1 T A 3: 145,015,677 T378S possibly damaging Het
Cltc A T 11: 86,725,133 C436S probably damaging Het
Def8 G A 8: 123,459,895 V429M probably benign Het
Dnah9 A T 11: 66,130,666 D311E possibly damaging Het
Dpy19l4 T C 4: 11,267,752 K396R possibly damaging Het
Eif4b T C 15: 102,095,286 S597P probably benign Het
Ezh1 A T 11: 101,213,755 N155K probably benign Het
Glud1 A G 14: 34,319,905 S157G probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Gm5600 T C 7: 113,707,984 noncoding transcript Het
Hnf4g T A 3: 3,651,410 V298E probably damaging Het
Hspd1 C T 1: 55,079,109 R446Q probably benign Het
Lyst A G 13: 13,635,577 I611V probably benign Het
Map4k3 T C 17: 80,613,931 E524G probably benign Het
Mepe A G 5: 104,338,269 D425G possibly damaging Het
Myo1a G T 10: 127,719,904 V921L probably benign Het
Prim1 A G 10: 128,022,889 Y222C probably damaging Het
Ptpn13 A G 5: 103,501,523 N264S possibly damaging Het
Qrsl1 T C 10: 43,876,504 D441G probably benign Het
Samd9l G T 6: 3,375,120 Q714K probably benign Het
Scrib T C 15: 76,066,118 E293G possibly damaging Het
Slc12a2 T A 18: 57,896,308 N255K probably benign Het
Slc6a6 T C 6: 91,726,069 I141T probably damaging Het
Slc9a1 T C 4: 133,418,059 L485P probably damaging Het
Slfn8 A T 11: 83,003,696 Y706N probably damaging Het
Tlr5 T C 1: 182,974,879 F583L possibly damaging Het
Tmprss15 A G 16: 79,090,790 V43A probably benign Het
Ttc24 T C 3: 88,070,413 probably null Het
Ttc7 A G 17: 87,359,124 T606A probably damaging Het
Ubap2 G T 4: 41,202,362 P689T possibly damaging Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Wfdc8 A T 2: 164,605,780 M120K probably damaging Het
Other mutations in Plxdc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02490:Plxdc1 APN 11 97954778 missense probably benign 0.17
IGL02568:Plxdc1 APN 11 97978564 missense probably damaging 1.00
IGL02618:Plxdc1 APN 11 97932304 missense probably benign
IGL03169:Plxdc1 APN 11 97932320 missense possibly damaging 0.80
R0200:Plxdc1 UTSW 11 97934012 missense probably damaging 1.00
R0627:Plxdc1 UTSW 11 97932204 splice site probably null
R1510:Plxdc1 UTSW 11 97932324 missense probably damaging 1.00
R2144:Plxdc1 UTSW 11 97934012 missense probably damaging 1.00
R5334:Plxdc1 UTSW 11 97956105 missense possibly damaging 0.87
R6084:Plxdc1 UTSW 11 97928463 missense probably damaging 1.00
R6243:Plxdc1 UTSW 11 97955473 missense probably damaging 1.00
R6305:Plxdc1 UTSW 11 97938590 missense probably damaging 1.00
R7224:Plxdc1 UTSW 11 97932327 missense possibly damaging 0.88
R7574:Plxdc1 UTSW 11 97956490 missense possibly damaging 0.89
R7633:Plxdc1 UTSW 11 97956151 missense possibly damaging 0.95
R7909:Plxdc1 UTSW 11 97932304 missense probably benign
R7990:Plxdc1 UTSW 11 97932304 missense probably benign
R8056:Plxdc1 UTSW 11 97978517 missense probably damaging 0.99
RF007:Plxdc1 UTSW 11 97978678 missense probably benign 0.30
Posted On2014-05-07