Incidental Mutation 'R6328:Ccdc88b'
ID 510837
Institutional Source Beutler Lab
Gene Symbol Ccdc88b
Ensembl Gene ENSMUSG00000047810
Gene Name coiled-coil domain containing 88B
Synonyms 2610041P08Rik
MMRRC Submission 044482-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6328 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 6821991-6835579 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 6826406 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 1103 (R1103Q)
Ref Sequence ENSEMBL: ENSMUSP00000109067 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113440]
AlphaFold Q4QRL3
Predicted Effect probably damaging
Transcript: ENSMUST00000113440
AA Change: R1103Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000109067
Gene: ENSMUSG00000047810
AA Change: R1103Q

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
Meta Mutation Damage Score 0.0941 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency 98% (57/58)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abat C T 16: 8,420,300 (GRCm39) probably benign Het
Abcb10 G A 8: 124,688,756 (GRCm39) R507W probably damaging Het
Actg1 T C 11: 120,238,586 (GRCm39) D80G possibly damaging Het
Actr5 A G 2: 158,477,264 (GRCm39) D405G possibly damaging Het
Ahnak C T 19: 8,984,512 (GRCm39) T1932I probably benign Het
Ankk1 T A 9: 49,327,371 (GRCm39) T603S possibly damaging Het
Atp13a3 A T 16: 30,155,053 (GRCm39) F964I probably damaging Het
Atp6v1g3 A G 1: 138,215,570 (GRCm39) T77A probably benign Het
Bccip A G 7: 133,319,503 (GRCm39) H198R probably damaging Het
Bsx A T 9: 40,785,519 (GRCm39) R16W probably damaging Het
Cd59a A C 2: 103,941,103 (GRCm39) Y27S probably damaging Het
Cdk20 A G 13: 64,584,413 (GRCm39) H162R probably damaging Het
Col6a2 C T 10: 76,450,212 (GRCm39) E240K possibly damaging Het
Ddr2 A G 1: 169,814,634 (GRCm39) V603A possibly damaging Het
Dgkz A G 2: 91,772,980 (GRCm39) V359A probably benign Het
Dis3l2 T A 1: 86,782,153 (GRCm39) S223T probably benign Het
Dpysl4 A G 7: 138,679,734 (GRCm39) S535G probably benign Het
Dsp A T 13: 38,380,982 (GRCm39) K1977* probably null Het
Dync2h1 A T 9: 7,165,717 (GRCm39) S515T probably benign Het
Epg5 A G 18: 78,072,179 (GRCm39) E2397G possibly damaging Het
Fam83d G A 2: 158,627,096 (GRCm39) G262S probably damaging Het
Frmd4a A T 2: 4,595,509 (GRCm39) T477S probably damaging Het
Gbp3 A G 3: 142,274,819 (GRCm39) E382G probably benign Het
Gltp A T 5: 114,808,572 (GRCm39) C157S possibly damaging Het
Grb10 A G 11: 11,887,905 (GRCm39) S378P probably damaging Het
Gulo G T 14: 66,240,080 (GRCm39) T126K probably damaging Het
H2-M10.6 T A 17: 37,124,836 (GRCm39) M251K probably damaging Het
Hecw1 T C 13: 14,422,205 (GRCm39) D967G possibly damaging Het
Htr3b A T 9: 48,858,933 (GRCm39) D68E probably damaging Het
Igkv5-39 G T 6: 69,877,489 (GRCm39) S89* probably null Het
Kctd4 C A 14: 76,200,037 (GRCm39) probably benign Het
Lmna T C 3: 88,393,813 (GRCm39) Q255R probably damaging Het
Lsmem1 A G 12: 40,230,656 (GRCm39) I82T possibly damaging Het
Lyg2 T A 1: 37,950,194 (GRCm39) M45L probably benign Het
Myo5b G A 18: 74,750,064 (GRCm39) A176T probably damaging Het
Nudt5 A T 2: 5,869,248 (GRCm39) K158I possibly damaging Het
Nufip1 C T 14: 76,348,494 (GRCm39) P41L possibly damaging Het
Or4f14b A T 2: 111,775,739 (GRCm39) W21R probably null Het
Or52z13 A T 7: 103,247,073 (GRCm39) E183D probably damaging Het
Pcp2 T C 8: 3,674,887 (GRCm39) D22G probably damaging Het
Pdk2 G C 11: 94,930,228 (GRCm39) N69K possibly damaging Het
Pdlim7 G T 13: 55,655,905 (GRCm39) probably benign Het
Ptprc C A 1: 138,041,416 (GRCm39) E148* probably null Het
Rassf5 A T 1: 131,108,405 (GRCm39) V225E probably damaging Het
Rbm6 A T 9: 107,664,458 (GRCm39) M725K probably benign Het
Scn1a T A 2: 66,103,660 (GRCm39) I1867F probably damaging Het
Sdk2 T A 11: 113,684,581 (GRCm39) Q1960L probably damaging Het
Setx A G 2: 29,064,474 (GRCm39) probably benign Het
Sgo2b T A 8: 64,381,345 (GRCm39) R496* probably null Het
Slco1a1 C T 6: 141,878,176 (GRCm39) V222I probably damaging Het
Sntg2 A C 12: 30,308,013 (GRCm39) L224R probably damaging Het
Syt16 C A 12: 74,313,467 (GRCm39) C464* probably null Het
Tapbpl T A 6: 125,201,881 (GRCm39) S420C probably benign Het
Tax1bp1 A G 6: 52,723,694 (GRCm39) E528G probably benign Het
Tmem168 T C 6: 13,602,710 (GRCm39) T219A probably benign Het
Zfp180 T C 7: 23,804,981 (GRCm39) F467L probably damaging Het
Other mutations in Ccdc88b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01347:Ccdc88b APN 19 6,822,454 (GRCm39) missense probably damaging 1.00
IGL01637:Ccdc88b APN 19 6,824,078 (GRCm39) missense probably benign 0.13
IGL02201:Ccdc88b APN 19 6,823,999 (GRCm39) missense probably damaging 1.00
IGL02260:Ccdc88b APN 19 6,832,717 (GRCm39) splice site probably benign
IGL02276:Ccdc88b APN 19 6,833,475 (GRCm39) critical splice donor site probably null
IGL02412:Ccdc88b APN 19 6,824,012 (GRCm39) missense probably damaging 1.00
IGL02420:Ccdc88b APN 19 6,834,317 (GRCm39) missense probably damaging 1.00
IGL02990:Ccdc88b APN 19 6,824,777 (GRCm39) missense probably damaging 1.00
R0031:Ccdc88b UTSW 19 6,831,151 (GRCm39) missense possibly damaging 0.93
R0544:Ccdc88b UTSW 19 6,834,634 (GRCm39) missense probably damaging 1.00
R0727:Ccdc88b UTSW 19 6,831,582 (GRCm39) missense probably benign
R0920:Ccdc88b UTSW 19 6,824,017 (GRCm39) missense probably benign
R0975:Ccdc88b UTSW 19 6,823,993 (GRCm39) missense probably damaging 1.00
R1170:Ccdc88b UTSW 19 6,830,581 (GRCm39) missense probably damaging 1.00
R1363:Ccdc88b UTSW 19 6,827,739 (GRCm39) missense possibly damaging 0.55
R1471:Ccdc88b UTSW 19 6,831,391 (GRCm39) missense probably benign
R1605:Ccdc88b UTSW 19 6,827,837 (GRCm39) missense probably benign 0.06
R1752:Ccdc88b UTSW 19 6,830,690 (GRCm39) missense probably benign 0.02
R1832:Ccdc88b UTSW 19 6,830,900 (GRCm39) nonsense probably null
R1839:Ccdc88b UTSW 19 6,831,477 (GRCm39) splice site probably benign
R1917:Ccdc88b UTSW 19 6,826,594 (GRCm39) missense probably damaging 1.00
R2167:Ccdc88b UTSW 19 6,831,452 (GRCm39) missense possibly damaging 0.52
R4012:Ccdc88b UTSW 19 6,826,359 (GRCm39) missense probably damaging 0.98
R4350:Ccdc88b UTSW 19 6,827,640 (GRCm39) missense probably damaging 0.97
R4427:Ccdc88b UTSW 19 6,827,940 (GRCm39) missense probably damaging 0.99
R4676:Ccdc88b UTSW 19 6,830,368 (GRCm39) missense probably benign 0.00
R4677:Ccdc88b UTSW 19 6,825,636 (GRCm39) missense probably damaging 0.98
R4720:Ccdc88b UTSW 19 6,835,083 (GRCm39) missense probably damaging 1.00
R4725:Ccdc88b UTSW 19 6,834,481 (GRCm39) missense probably damaging 1.00
R4747:Ccdc88b UTSW 19 6,833,509 (GRCm39) missense probably damaging 1.00
R5092:Ccdc88b UTSW 19 6,825,600 (GRCm39) missense probably damaging 0.99
R5403:Ccdc88b UTSW 19 6,835,108 (GRCm39) missense unknown
R5448:Ccdc88b UTSW 19 6,831,948 (GRCm39) missense probably damaging 1.00
R5771:Ccdc88b UTSW 19 6,831,203 (GRCm39) missense probably benign
R5783:Ccdc88b UTSW 19 6,831,284 (GRCm39) missense probably benign 0.19
R5988:Ccdc88b UTSW 19 6,833,348 (GRCm39) missense probably damaging 1.00
R6459:Ccdc88b UTSW 19 6,832,246 (GRCm39) missense possibly damaging 0.92
R6773:Ccdc88b UTSW 19 6,826,409 (GRCm39) missense possibly damaging 0.71
R7073:Ccdc88b UTSW 19 6,831,330 (GRCm39) missense probably benign 0.34
R7707:Ccdc88b UTSW 19 6,834,837 (GRCm39) missense probably benign 0.23
R7810:Ccdc88b UTSW 19 6,826,454 (GRCm39) missense probably benign
R8298:Ccdc88b UTSW 19 6,827,649 (GRCm39) missense probably damaging 0.97
R8349:Ccdc88b UTSW 19 6,833,213 (GRCm39) missense probably damaging 1.00
R8449:Ccdc88b UTSW 19 6,833,213 (GRCm39) missense probably damaging 1.00
R8481:Ccdc88b UTSW 19 6,831,900 (GRCm39) missense probably damaging 1.00
R8506:Ccdc88b UTSW 19 6,824,690 (GRCm39) missense probably damaging 0.99
R8714:Ccdc88b UTSW 19 6,833,213 (GRCm39) missense probably damaging 1.00
R8715:Ccdc88b UTSW 19 6,833,213 (GRCm39) missense probably damaging 1.00
R8717:Ccdc88b UTSW 19 6,833,213 (GRCm39) missense probably damaging 1.00
R8753:Ccdc88b UTSW 19 6,833,213 (GRCm39) missense probably damaging 1.00
R8754:Ccdc88b UTSW 19 6,833,213 (GRCm39) missense probably damaging 1.00
R8774:Ccdc88b UTSW 19 6,825,090 (GRCm39) missense probably damaging 1.00
R8774-TAIL:Ccdc88b UTSW 19 6,825,090 (GRCm39) missense probably damaging 1.00
R8787:Ccdc88b UTSW 19 6,824,791 (GRCm39) missense probably damaging 1.00
R8896:Ccdc88b UTSW 19 6,831,203 (GRCm39) missense probably benign
R9049:Ccdc88b UTSW 19 6,826,442 (GRCm39) missense probably benign 0.37
R9100:Ccdc88b UTSW 19 6,833,213 (GRCm39) missense probably damaging 1.00
R9113:Ccdc88b UTSW 19 6,833,213 (GRCm39) missense probably damaging 1.00
R9197:Ccdc88b UTSW 19 6,833,213 (GRCm39) missense probably damaging 1.00
R9198:Ccdc88b UTSW 19 6,833,213 (GRCm39) missense probably damaging 1.00
R9198:Ccdc88b UTSW 19 6,831,268 (GRCm39) missense possibly damaging 0.92
R9202:Ccdc88b UTSW 19 6,833,213 (GRCm39) missense probably damaging 1.00
R9323:Ccdc88b UTSW 19 6,826,475 (GRCm39) missense probably damaging 1.00
R9334:Ccdc88b UTSW 19 6,833,541 (GRCm39) missense possibly damaging 0.50
R9385:Ccdc88b UTSW 19 6,833,533 (GRCm39) missense probably benign 0.13
R9441:Ccdc88b UTSW 19 6,833,213 (GRCm39) missense probably damaging 1.00
R9442:Ccdc88b UTSW 19 6,833,213 (GRCm39) missense probably damaging 1.00
R9748:Ccdc88b UTSW 19 6,831,461 (GRCm39) missense probably damaging 1.00
R9766:Ccdc88b UTSW 19 6,833,096 (GRCm39) missense probably damaging 1.00
X0021:Ccdc88b UTSW 19 6,831,199 (GRCm39) missense probably benign
Z1176:Ccdc88b UTSW 19 6,827,108 (GRCm39) missense possibly damaging 0.83
Predicted Primers PCR Primer
(F):5'- AAAGTTGAGGAGCCCAGACC -3'
(R):5'- ACCTTAGGCTGAAAAGTCAATGATG -3'

Sequencing Primer
(F):5'- CCCCCAAGAGAGGAGCAATAG -3'
(R):5'- TCAATGATGGAGATGCAAGGTC -3'
Posted On 2018-04-02