Incidental Mutation 'IGL00430:Igdcc3'
ID4862
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Igdcc3
Ensembl Gene ENSMUSG00000032394
Gene Nameimmunoglobulin superfamily, DCC subclass, member 3
SynonymsPunc, WI-14920, 2810401C09Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.154) question?
Stock #IGL00430
Quality Score
Status
Chromosome9
Chromosomal Location65141189-65185872 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 65182019 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Alanine at position 499 (D499A)
Ref Sequence ENSEMBL: ENSMUSP00000149084 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034961] [ENSMUST00000217371]
Predicted Effect probably damaging
Transcript: ENSMUST00000034961
AA Change: D499A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000034961
Gene: ENSMUSG00000032394
AA Change: D499A

DomainStartEndE-ValueType
signal peptide 1 47 N/A INTRINSIC
IGc2 66 136 1.28e-10 SMART
IGc2 163 228 4.77e-10 SMART
IGc2 262 326 8.06e-8 SMART
IGc2 354 419 3.17e-15 SMART
FN3 436 519 1.2e-13 SMART
FN3 534 615 2.66e-6 SMART
transmembrane domain 631 653 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217135
Predicted Effect probably damaging
Transcript: ENSMUST00000217371
AA Change: D499A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygotes for a gene trap mutation exhibit reduced performance on the rotarod, suggesting impaired cerebellar function. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 G A 19: 43,784,202 S17N probably benign Het
Atp2a1 C T 7: 126,447,216 W72* probably null Het
Baz2b C A 2: 59,912,795 A1611S probably benign Het
Cep290 A T 10: 100,508,724 I475L probably benign Het
Cpsf4l C T 11: 113,709,218 probably benign Het
Crispld2 A T 8: 120,033,560 R408S probably damaging Het
Cyp3a25 A T 5: 145,993,360 M145K probably damaging Het
Dexi A T 16: 10,542,445 D82E probably benign Het
Epyc A T 10: 97,681,147 K282N probably benign Het
Ercc6l2 G T 13: 63,858,319 V588F probably damaging Het
Galnt14 C T 17: 73,494,232 V532I probably damaging Het
Grk1 C A 8: 13,413,128 Y383* probably null Het
Gtpbp1 G T 15: 79,719,136 G609W possibly damaging Het
Hadha C T 5: 30,120,147 V682M possibly damaging Het
Kcna10 T G 3: 107,194,728 V225G probably damaging Het
Kcnh4 T C 11: 100,757,654 T75A possibly damaging Het
Lama4 A G 10: 39,045,704 E407G possibly damaging Het
Mrpl13 T A 15: 55,540,201 K105N probably damaging Het
Pcdhb2 A T 18: 37,296,463 probably null Het
Pck2 C T 14: 55,543,944 A209V probably benign Het
Plce1 A G 19: 38,725,017 E1243G probably damaging Het
Plekhh2 A T 17: 84,521,775 M25L probably benign Het
Rasef G A 4: 73,771,425 Q117* probably null Het
Rbm14 A G 19: 4,811,426 V28A probably damaging Het
Rcan2 A G 17: 43,836,384 T38A probably benign Het
Rin1 A G 19: 5,051,376 N96S probably benign Het
Rrp12 A G 19: 41,877,334 probably null Het
Slco1a6 A T 6: 142,101,651 C404* probably null Het
St6galnac3 T C 3: 153,509,403 N38S probably benign Het
Top2b T A 14: 16,422,692 S1376R probably benign Het
Trip11 T C 12: 101,886,147 I553V probably benign Het
Trip12 T G 1: 84,763,861 H559P probably damaging Het
Uggt2 A T 14: 119,026,429 L1063* probably null Het
Zmym6 T A 4: 127,101,949 C269* probably null Het
Other mutations in Igdcc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01310:Igdcc3 APN 9 65178442 missense probably damaging 0.98
IGL01545:Igdcc3 APN 9 65180073 missense probably damaging 1.00
IGL01576:Igdcc3 APN 9 65177870 missense probably damaging 1.00
IGL01909:Igdcc3 APN 9 65144537 missense probably damaging 1.00
IGL02039:Igdcc3 APN 9 65183880 missense probably benign 0.18
IGL02055:Igdcc3 APN 9 65181280 missense possibly damaging 0.92
IGL02565:Igdcc3 APN 9 65180188 missense probably damaging 1.00
R1776:Igdcc3 UTSW 9 65182752 nonsense probably null
R4731:Igdcc3 UTSW 9 65181997 missense probably damaging 1.00
R5413:Igdcc3 UTSW 9 65177515 missense possibly damaging 0.61
R5487:Igdcc3 UTSW 9 65181584 missense probably damaging 1.00
R5744:Igdcc3 UTSW 9 65141488 small deletion probably benign
R6578:Igdcc3 UTSW 9 65182019 missense probably damaging 1.00
R6867:Igdcc3 UTSW 9 65183038 missense probably damaging 1.00
R6992:Igdcc3 UTSW 9 65181571 missense probably damaging 1.00
Posted On2012-04-20