Incidental Mutation 'IGL03169:Plxdc1'
ID411769
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 #IGL03169
Quality Score
Status
Chromosome11
Chromosomal Location97923238-97986444 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 97932320 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 358 (E358G)
Ref Sequence ENSEMBL: ENSMUSP00000017561 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017561] [ENSMUST00000107565]
Predicted Effect possibly damaging
Transcript: ENSMUST00000017561
AA Change: E358G

PolyPhen 2 Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000017561
Gene: ENSMUSG00000017417
AA Change: E358G

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 possibly damaging
Transcript: ENSMUST00000107565
AA Change: E365G

PolyPhen 2 Score 0.793 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000103191
Gene: ENSMUSG00000017417
AA Change: E365G

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
PSI 311 356 5.98e-2 SMART
transmembrane domain 432 454 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141708
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl1 A T 8: 83,931,995 I548F probably damaging Het
Adgrv1 T A 13: 81,503,900 Q2995L probably damaging Het
Capn9 T C 8: 124,605,877 I485T probably damaging Het
Ccdc17 T A 4: 116,597,760 I197N probably damaging Het
Chl1 T A 6: 103,665,967 L222Q probably damaging Het
Ctla4 T C 1: 60,914,605 probably benign Het
Cyp2d12 T C 15: 82,559,291 S485P probably benign Het
Ddx50 A T 10: 62,621,387 probably null Het
Dlgap4 C A 2: 156,711,018 probably null Het
Dpysl4 G A 7: 139,099,910 probably null Het
Erbin T C 13: 103,841,232 M606V possibly damaging Het
Fat4 T G 3: 38,957,398 S2216A probably benign Het
Frem2 T C 3: 53,522,292 N2779S probably benign Het
Fut1 T C 7: 45,619,033 V82A probably benign Het
Gnb1l C T 16: 18,540,455 A2V probably damaging Het
Hdac1 C T 4: 129,518,831 E327K probably null Het
Hdlbp A G 1: 93,416,587 V819A possibly damaging Het
Ift122 T C 6: 115,905,961 probably benign Het
Iqgap2 T C 13: 95,731,277 probably null Het
Kntc1 T C 5: 123,775,821 V613A possibly damaging Het
Lamb1 T C 12: 31,323,646 V1458A probably damaging Het
Lef1 A G 3: 131,194,663 K265R probably damaging Het
Lrp2 T C 2: 69,523,194 D574G probably damaging Het
Mterf2 C T 10: 85,120,460 R100H probably benign Het
Nr1d2 C T 14: 18,216,703 R155Q probably damaging Het
Obscn T C 11: 59,073,296 T3304A probably damaging Het
Olfr1251 A G 2: 89,667,487 I133T possibly damaging Het
Olfr137 G T 17: 38,305,101 S120Y probably damaging Het
Os9 G A 10: 127,098,594 T391M probably benign Het
Parp6 C A 9: 59,650,017 Y131* probably null Het
Ppef2 C T 5: 92,235,900 W450* probably null Het
Ptprc A T 1: 138,113,619 S167R probably benign Het
Rad54l2 T C 9: 106,719,064 D225G probably benign Het
Rgs7 T C 1: 175,270,835 I53V possibly damaging Het
Rpa1 T C 11: 75,301,357 D607G probably damaging Het
Shisa5 T A 9: 109,056,492 H213Q probably damaging Het
Syncrip A G 9: 88,456,443 probably benign Het
Taf4b T G 18: 14,821,535 V556G probably damaging Het
Tgif1 A C 17: 70,844,841 S258R possibly damaging Het
Tmem106a T C 11: 101,590,458 probably benign Het
Vmn1r113 A T 7: 20,788,087 H268L probably benign Het
Vmn1r40 A T 6: 89,715,023 Q274L probably damaging Het
Wdr70 A C 15: 7,884,340 I609M possibly damaging Het
Wdr91 G A 6: 34,905,491 S241L possibly damaging Het
Zfyve9 T C 4: 108,695,825 Y713C probably damaging Het
Other mutations in Plxdc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01896:Plxdc1 APN 11 97924582 missense probably damaging 0.98
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
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 On2016-08-02