Incidental Mutation 'IGL01545:Igdcc3'
ID 90297
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Igdcc3
Ensembl Gene ENSMUSG00000032394
Gene Name immunoglobulin superfamily, DCC subclass, member 3
Synonyms Punc, WI-14920, 2810401C09Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.125) question?
Stock # IGL01545
Quality Score
Status
Chromosome 9
Chromosomal Location 65048471-65093154 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 65087355 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 298 (V298M)
Ref Sequence ENSEMBL: ENSMUSP00000149084 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034961] [ENSMUST00000217371]
AlphaFold Q8BQC3
Predicted Effect probably damaging
Transcript: ENSMUST00000034961
AA Change: V298M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034961
Gene: ENSMUSG00000032394
AA Change: V298M

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: V298M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930505A04Rik G A 11: 30,376,228 (GRCm39) S213L probably benign Het
Adgrv1 A G 13: 81,614,303 (GRCm39) I4030T possibly damaging Het
Ap4b1 G A 3: 103,720,143 (GRCm39) R55H probably benign Het
Arap3 G A 18: 38,123,889 (GRCm39) R377C probably damaging Het
Atp6v1h T A 1: 5,159,282 (GRCm39) M55K probably benign Het
B3galt4 A C 17: 34,170,187 (GRCm39) V17G probably benign Het
Cd79a A T 7: 24,600,691 (GRCm39) M172L probably benign Het
Cry1 A T 10: 85,020,226 (GRCm39) L37H possibly damaging Het
D5Ertd615e A T 5: 45,326,755 (GRCm39) noncoding transcript Het
Dnah17 A T 11: 118,010,394 (GRCm39) L308Q probably damaging Het
Dnah7a C T 1: 53,557,941 (GRCm39) A2158T probably benign Het
Dusp2 A G 2: 127,179,695 (GRCm39) T313A probably benign Het
Fam110c T C 12: 31,124,982 (GRCm39) S315P probably damaging Het
Fcer2a G A 8: 3,733,598 (GRCm39) R198* probably null Het
Fryl G A 5: 73,211,940 (GRCm39) T2359M probably damaging Het
Gm14221 G A 2: 160,410,303 (GRCm39) noncoding transcript Het
Gpc6 T G 14: 118,202,242 (GRCm39) L484R probably damaging Het
Impg2 T A 16: 56,046,080 (GRCm39) probably benign Het
Iqca1 T A 1: 89,973,364 (GRCm39) M803L probably benign Het
Itga4 T C 2: 79,146,314 (GRCm39) probably benign Het
Katnip A G 7: 125,352,143 (GRCm39) probably null Het
Kidins220 T C 12: 25,090,459 (GRCm39) F1141S possibly damaging Het
Kif7 A G 7: 79,352,026 (GRCm39) I912T probably damaging Het
Klhl38 G A 15: 58,185,854 (GRCm39) R292W probably damaging Het
Lama3 A G 18: 12,574,188 (GRCm39) D590G probably benign Het
Map4k4 T C 1: 40,053,389 (GRCm39) probably benign Het
Mbd4 A T 6: 115,827,758 (GRCm39) D39E probably damaging Het
Mrm2 A G 5: 140,317,010 (GRCm39) V8A probably benign Het
Myod1 A T 7: 46,026,539 (GRCm39) E148V probably damaging Het
Or5d47 A C 2: 87,804,895 (GRCm39) I38S probably benign Het
Pdcd10 A T 3: 75,448,475 (GRCm39) F30I possibly damaging Het
Ptcd1 T A 5: 145,096,346 (GRCm39) H249L probably damaging Het
Ptcd3 A T 6: 71,865,561 (GRCm39) D451E probably benign Het
Rab44 C A 17: 29,366,351 (GRCm39) S680R unknown Het
Rad21l A T 2: 151,497,084 (GRCm39) D340E probably benign Het
Ranbp2 T C 10: 58,314,703 (GRCm39) F1808L possibly damaging Het
Rnf122 T C 8: 31,618,630 (GRCm39) V126A probably damaging Het
Slc25a47 G T 12: 108,820,142 (GRCm39) V49L probably benign Het
Slc36a2 T C 11: 55,075,633 (GRCm39) probably null Het
Sorl1 G A 9: 41,955,252 (GRCm39) R668W probably damaging Het
Tbx19 T A 1: 164,966,725 (GRCm39) N383I possibly damaging Het
Tenm4 A G 7: 96,523,510 (GRCm39) H1676R probably benign Het
Tgm5 G T 2: 120,883,289 (GRCm39) R351S probably damaging Het
Tmem106b A G 6: 13,071,842 (GRCm39) S34G probably benign Het
Trmo C T 4: 46,386,169 (GRCm39) G119R probably damaging Het
Ubr4 G A 4: 139,170,140 (GRCm39) probably benign Het
Wfdc11 A G 2: 164,507,365 (GRCm39) probably null Het
Xrn2 T A 2: 146,880,099 (GRCm39) I474K probably benign Het
Zfp827 A G 8: 79,797,063 (GRCm39) K383R probably damaging Het
Other mutations in Igdcc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00430:Igdcc3 APN 9 65,089,301 (GRCm39) missense probably damaging 1.00
IGL01310:Igdcc3 APN 9 65,085,724 (GRCm39) missense probably damaging 0.98
IGL01576:Igdcc3 APN 9 65,085,152 (GRCm39) missense probably damaging 1.00
IGL01909:Igdcc3 APN 9 65,051,819 (GRCm39) missense probably damaging 1.00
IGL02039:Igdcc3 APN 9 65,091,162 (GRCm39) missense probably benign 0.18
IGL02055:Igdcc3 APN 9 65,088,562 (GRCm39) missense possibly damaging 0.92
IGL02565:Igdcc3 APN 9 65,087,470 (GRCm39) missense probably damaging 1.00
R1776:Igdcc3 UTSW 9 65,090,034 (GRCm39) nonsense probably null
R4731:Igdcc3 UTSW 9 65,089,279 (GRCm39) missense probably damaging 1.00
R5413:Igdcc3 UTSW 9 65,084,797 (GRCm39) missense possibly damaging 0.61
R5487:Igdcc3 UTSW 9 65,088,866 (GRCm39) missense probably damaging 1.00
R5744:Igdcc3 UTSW 9 65,048,770 (GRCm39) small deletion probably benign
R6578:Igdcc3 UTSW 9 65,089,301 (GRCm39) missense probably damaging 1.00
R6867:Igdcc3 UTSW 9 65,090,320 (GRCm39) missense probably damaging 1.00
R6992:Igdcc3 UTSW 9 65,088,853 (GRCm39) missense probably damaging 1.00
R8880:Igdcc3 UTSW 9 65,088,550 (GRCm39) missense probably benign 0.20
R9619:Igdcc3 UTSW 9 65,092,552 (GRCm39) missense probably benign 0.40
R9682:Igdcc3 UTSW 9 65,091,332 (GRCm39) missense probably benign 0.03
R9718:Igdcc3 UTSW 9 65,090,280 (GRCm39) critical splice acceptor site probably null
Posted On 2013-12-03