Incidental Mutation 'IGL02618:Plxdc1'
ID 300750
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Plxdc1
Ensembl Gene ENSMUSG00000017417
Gene Name plexin domain containing 1
Synonyms Tem7, 2410003I07Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.095) question?
Stock # IGL02618
Quality Score
Status
Chromosome 11
Chromosomal Location 97814064-97877270 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 97823130 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 370 (D370E)
Ref Sequence ENSEMBL: ENSMUSP00000103191 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017561] [ENSMUST00000107565]
AlphaFold Q91ZV7
Predicted Effect probably benign
Transcript: ENSMUST00000017561
AA Change: D363E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000017561
Gene: ENSMUSG00000017417
AA Change: D363E

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 benign
Transcript: ENSMUST00000107565
AA Change: D370E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000103191
Gene: ENSMUSG00000017417
AA Change: D370E

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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700097O09Rik G A 12: 55,104,086 (GRCm39) Q178* probably null Het
Adgre1 T A 17: 57,751,021 (GRCm39) V565E possibly damaging Het
Arfgef2 C A 2: 166,695,233 (GRCm39) N535K probably damaging Het
Bbx A G 16: 50,068,161 (GRCm39) L161S probably damaging Het
Bclaf1 T C 10: 20,199,274 (GRCm39) S224P probably damaging Het
Car2 A G 3: 14,963,032 (GRCm39) D189G probably benign Het
Catsperb A T 12: 101,446,983 (GRCm39) probably benign Het
Ccdc88c C T 12: 100,879,812 (GRCm39) V1770I probably benign Het
Cebpe T C 14: 54,948,234 (GRCm39) D203G probably damaging Het
Chn2 A G 6: 54,197,422 (GRCm39) N104S probably damaging Het
Clec2i G A 6: 128,873,464 (GRCm39) C231Y probably damaging Het
Col4a5 C T X: 140,466,678 (GRCm39) P1557S probably damaging Het
Creb3l1 T C 2: 91,813,543 (GRCm39) N498S probably benign Het
Ctnnal1 A T 4: 56,817,060 (GRCm39) D587E probably benign Het
Dnmt3l T C 10: 77,889,856 (GRCm39) probably benign Het
Dock7 A G 4: 98,971,265 (GRCm39) V100A probably benign Het
Frk C T 10: 34,459,960 (GRCm39) T185I possibly damaging Het
Frmd4b G A 6: 97,285,066 (GRCm39) Q340* probably null Het
Lima1 C A 15: 99,700,097 (GRCm39) probably benign Het
Mtcl2 A G 2: 156,882,486 (GRCm39) L522P probably damaging Het
Ndrg1 G A 15: 66,812,086 (GRCm39) H202Y probably benign Het
Nxpe2 T G 9: 48,237,634 (GRCm39) N207T probably damaging Het
Or5ac19 A T 16: 59,089,290 (GRCm39) S247T probably damaging Het
Pdzph1 T C 17: 59,186,068 (GRCm39) probably benign Het
Pinx1 A G 14: 64,105,969 (GRCm39) D75G probably damaging Het
Polb A T 8: 23,127,109 (GRCm39) L228Q probably damaging Het
Rab3gap2 T A 1: 184,983,938 (GRCm39) I521N possibly damaging Het
Rapgef1 A G 2: 29,627,955 (GRCm39) D1045G probably damaging Het
Rbks A T 5: 31,781,863 (GRCm39) Y312* probably null Het
Ror2 C T 13: 53,264,764 (GRCm39) S764N probably damaging Het
Src A T 2: 157,306,698 (GRCm39) K234* probably null Het
Stk36 C A 1: 74,670,834 (GRCm39) probably benign Het
Ttll6 G T 11: 96,038,388 (GRCm39) C412F probably benign Het
Zfp58 A G 13: 67,639,475 (GRCm39) F339L possibly damaging Het
Other mutations in Plxdc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01896:Plxdc1 APN 11 97,815,408 (GRCm39) missense probably damaging 0.98
IGL02490:Plxdc1 APN 11 97,845,604 (GRCm39) missense probably benign 0.17
IGL02568:Plxdc1 APN 11 97,869,390 (GRCm39) missense probably damaging 1.00
IGL03169:Plxdc1 APN 11 97,823,146 (GRCm39) missense possibly damaging 0.80
R0200:Plxdc1 UTSW 11 97,824,838 (GRCm39) missense probably damaging 1.00
R0627:Plxdc1 UTSW 11 97,823,030 (GRCm39) splice site probably null
R1510:Plxdc1 UTSW 11 97,823,150 (GRCm39) missense probably damaging 1.00
R2144:Plxdc1 UTSW 11 97,824,838 (GRCm39) missense probably damaging 1.00
R5334:Plxdc1 UTSW 11 97,846,931 (GRCm39) missense possibly damaging 0.87
R6084:Plxdc1 UTSW 11 97,819,289 (GRCm39) missense probably damaging 1.00
R6243:Plxdc1 UTSW 11 97,846,299 (GRCm39) missense probably damaging 1.00
R6305:Plxdc1 UTSW 11 97,829,416 (GRCm39) missense probably damaging 1.00
R7224:Plxdc1 UTSW 11 97,823,153 (GRCm39) missense possibly damaging 0.88
R7574:Plxdc1 UTSW 11 97,847,316 (GRCm39) missense possibly damaging 0.89
R7633:Plxdc1 UTSW 11 97,846,977 (GRCm39) missense possibly damaging 0.95
R7909:Plxdc1 UTSW 11 97,823,130 (GRCm39) missense probably benign
R8056:Plxdc1 UTSW 11 97,869,343 (GRCm39) missense probably damaging 0.99
R8536:Plxdc1 UTSW 11 97,869,522 (GRCm39) splice site probably null
R8754:Plxdc1 UTSW 11 97,846,337 (GRCm39) missense possibly damaging 0.80
R8796:Plxdc1 UTSW 11 97,847,407 (GRCm39) missense probably benign 0.02
R9189:Plxdc1 UTSW 11 97,844,788 (GRCm39) missense probably benign
R9450:Plxdc1 UTSW 11 97,845,681 (GRCm39) missense probably damaging 0.98
R9583:Plxdc1 UTSW 11 97,824,844 (GRCm39) missense probably damaging 1.00
RF007:Plxdc1 UTSW 11 97,869,504 (GRCm39) missense probably benign 0.30
Posted On 2015-04-16