Incidental Mutation 'IGL02260:Ccdc88b'
ID286729
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccdc88b
Ensembl Gene ENSMUSG00000047810
Gene Namecoiled-coil domain containing 88B
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.199) question?
Stock #IGL02260
Quality Score
Status
Chromosome19
Chromosomal Location6844623-6858211 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to T at 6855349 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000109067 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113440]
Predicted Effect probably benign
Transcript: ENSMUST00000113440
SMART Domains Protein: ENSMUSP00000109067
Gene: ENSMUSG00000047810

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
low complexity region 29 50 N/A INTRINSIC
Pfam:HOOK 91 503 1.2e-16 PFAM
coiled coil region 731 1308 N/A INTRINSIC
low complexity region 1420 1429 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the hook-related protein family. Members of this family are characterized by an N-terminal potential microtubule binding domain, a central coiled-coiled and a C-terminal Hook-related domain. The encoded protein may be involved in linking organelles to microtubules. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a null ENU-induced allele exhibit decreased susceptibility to P. berghei infection with reduced T cell proliferation, decreased cytokine secretion and increased myeloid cell number. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre1 C T 17: 57,447,891 A663V probably benign Het
Atg2b A T 12: 105,636,440 probably benign Het
B4galt6 T C 18: 20,700,747 I194V probably benign Het
Caprin1 T C 2: 103,779,369 Y188C probably damaging Het
Ccdc85a A G 11: 28,576,672 F284S possibly damaging Het
Cox18 C T 5: 90,217,525 V272I possibly damaging Het
Dars A T 1: 128,372,161 M362K probably benign Het
Ddi1 A T 9: 6,265,760 M203K probably benign Het
Dlg4 G A 11: 70,042,267 G500R probably damaging Het
Ebf3 G A 7: 137,206,190 P375S probably damaging Het
Eif5b T A 1: 38,045,456 L842M possibly damaging Het
Fhdc1 G A 3: 84,444,735 A1061V possibly damaging Het
Gm5581 T C 6: 131,167,946 noncoding transcript Het
Mapk10 A T 5: 103,038,668 D29E probably benign Het
Mib2 C T 4: 155,661,171 R61H probably damaging Het
Mki67 A G 7: 135,701,968 S724P probably benign Het
Mtor T C 4: 148,538,301 I1946T probably damaging Het
Myh14 A G 7: 44,611,571 L1873P probably damaging Het
Myom1 C T 17: 71,108,315 Q1226* probably null Het
Neb A G 2: 52,205,656 L4858P probably damaging Het
Olfr1036 C A 2: 86,075,472 T244K possibly damaging Het
Olfr502 T C 7: 108,523,285 I222V probably benign Het
Olfr561 A T 7: 102,774,907 I128F probably damaging Het
Pcdhb14 C T 18: 37,450,033 H731Y probably benign Het
Prdm16 T C 4: 154,328,287 N1087S probably benign Het
Prdm2 C T 4: 143,134,587 G711D probably damaging Het
Proser1 G A 3: 53,478,944 G749D probably damaging Het
Ptch1 A T 13: 63,565,352 probably benign Het
Pus10 A T 11: 23,707,548 K233* probably null Het
Rasa2 A G 9: 96,544,319 Y825H probably benign Het
Tbcd T C 11: 121,603,278 F969S probably damaging Het
Tbp T A 17: 15,504,616 S133T probably damaging Het
Tnks C T 8: 34,842,983 G1062D probably damaging Het
Tnrc6b T A 15: 80,880,171 S625T probably damaging Het
Triobp T C 15: 78,966,362 S239P probably benign Het
Ubiad1 T C 4: 148,444,107 D115G probably benign Het
Uckl1 A G 2: 181,569,588 S483P probably damaging Het
Vill A G 9: 119,058,441 D91G probably benign Het
Wdr62 C A 7: 30,270,782 C200F probably damaging Het
Zfp341 G A 2: 154,642,049 C586Y possibly damaging Het
Zfp687 G A 3: 95,011,264 T399I possibly damaging Het
Zp1 G T 19: 10,916,714 probably benign Het
Zzz3 T A 3: 152,452,083 D263E probably benign Het
Other mutations in Ccdc88b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01347:Ccdc88b APN 19 6845086 missense probably damaging 1.00
IGL01637:Ccdc88b APN 19 6846710 missense probably benign 0.13
IGL02201:Ccdc88b APN 19 6846631 missense probably damaging 1.00
IGL02276:Ccdc88b APN 19 6856107 critical splice donor site probably null
IGL02412:Ccdc88b APN 19 6846644 missense probably damaging 1.00
IGL02420:Ccdc88b APN 19 6856949 missense probably damaging 1.00
IGL02990:Ccdc88b APN 19 6847409 missense probably damaging 1.00
R0031:Ccdc88b UTSW 19 6853783 missense possibly damaging 0.93
R0544:Ccdc88b UTSW 19 6857266 missense probably damaging 1.00
R0727:Ccdc88b UTSW 19 6854214 missense probably benign
R0920:Ccdc88b UTSW 19 6846649 missense probably benign
R0975:Ccdc88b UTSW 19 6846625 missense probably damaging 1.00
R1170:Ccdc88b UTSW 19 6853213 missense probably damaging 1.00
R1363:Ccdc88b UTSW 19 6850371 missense possibly damaging 0.55
R1471:Ccdc88b UTSW 19 6854023 missense probably benign
R1605:Ccdc88b UTSW 19 6850469 missense probably benign 0.06
R1752:Ccdc88b UTSW 19 6853322 missense probably benign 0.02
R1832:Ccdc88b UTSW 19 6853532 nonsense probably null
R1839:Ccdc88b UTSW 19 6854109 splice site probably benign
R1917:Ccdc88b UTSW 19 6849226 missense probably damaging 1.00
R2167:Ccdc88b UTSW 19 6854084 missense possibly damaging 0.52
R4012:Ccdc88b UTSW 19 6848991 missense probably damaging 0.98
R4350:Ccdc88b UTSW 19 6850272 missense probably damaging 0.97
R4427:Ccdc88b UTSW 19 6850572 missense probably damaging 0.99
R4676:Ccdc88b UTSW 19 6853000 missense probably benign 0.00
R4677:Ccdc88b UTSW 19 6848268 missense probably damaging 0.98
R4720:Ccdc88b UTSW 19 6857715 missense probably damaging 1.00
R4725:Ccdc88b UTSW 19 6857113 missense probably damaging 1.00
R4747:Ccdc88b UTSW 19 6856141 missense probably damaging 1.00
R5092:Ccdc88b UTSW 19 6848232 missense probably damaging 0.99
R5403:Ccdc88b UTSW 19 6857740 missense unknown
R5448:Ccdc88b UTSW 19 6854580 missense probably damaging 1.00
R5771:Ccdc88b UTSW 19 6853835 missense probably benign
R5783:Ccdc88b UTSW 19 6853916 missense probably benign 0.19
R5988:Ccdc88b UTSW 19 6855980 missense probably damaging 1.00
R6328:Ccdc88b UTSW 19 6849038 missense probably damaging 1.00
R6459:Ccdc88b UTSW 19 6854878 missense possibly damaging 0.92
R6773:Ccdc88b UTSW 19 6849041 missense possibly damaging 0.71
X0021:Ccdc88b UTSW 19 6853831 missense probably benign
Posted On2015-04-16