Incidental Mutation 'R8754:Ccdc88b'
ID 664074
Institutional Source Beutler Lab
Gene Symbol Ccdc88b
Ensembl Gene ENSMUSG00000047810
Gene Name coiled-coil domain containing 88B
Synonyms 2610041P08Rik
MMRRC Submission 068620-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8754 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 6821991-6835579 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 6833213 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 278 (E278G)
Ref Sequence ENSEMBL: ENSMUSP00000109067 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113440]
AlphaFold Q4QRL3
Predicted Effect probably damaging
Transcript: ENSMUST00000113440
AA Change: E278G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109067
Gene: ENSMUSG00000047810
AA Change: E278G

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.5%
Validation Efficiency 100% (67/67)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T C 3: 137,771,798 (GRCm39) V329A probably benign Het
A830018L16Rik G T 1: 11,615,472 (GRCm39) K148N probably benign Het
Actn3 A G 19: 4,913,488 (GRCm39) F648L probably damaging Het
Amotl2 A G 9: 102,597,358 (GRCm39) D39G possibly damaging Het
Anks1 C A 17: 28,214,984 (GRCm39) T477K possibly damaging Het
Brix1 A T 15: 10,476,664 (GRCm39) S271T probably benign Het
Cdc40 C T 10: 40,717,480 (GRCm39) D404N probably damaging Het
Chrna6 T C 8: 27,897,229 (GRCm39) H216R probably damaging Het
Col6a3 C G 1: 90,695,328 (GRCm39) probably benign Het
Copa C T 1: 171,935,926 (GRCm39) R423W probably damaging Het
Cttnbp2 A C 6: 18,434,037 (GRCm39) I607R possibly damaging Het
Depdc5 A T 5: 33,136,881 (GRCm39) T1384S probably benign Het
Dlat G T 9: 50,560,967 (GRCm39) A360E probably damaging Het
Dusp26 C T 8: 31,581,805 (GRCm39) probably benign Het
Eif1ad13 T A 12: 87,762,569 (GRCm39) N96K possibly damaging Het
Fam135a G A 1: 24,067,569 (GRCm39) T1100M probably benign Het
Fuca1 T C 4: 135,652,889 (GRCm39) L171P probably damaging Het
Gpr158 G A 2: 21,581,693 (GRCm39) V391I probably benign Het
Gtf2h5 C CA 17: 6,134,833 (GRCm39) probably null Het
Heatr1 T A 13: 12,428,175 (GRCm39) Y771N probably damaging Het
Il17ra A G 6: 120,458,417 (GRCm39) T523A probably benign Het
Kcnv1 G A 15: 44,977,865 (GRCm39) Q58* probably null Het
Kdm5d T C Y: 941,594 (GRCm39) V1265A probably damaging Het
Kifc3 A T 8: 95,829,024 (GRCm39) L726Q probably damaging Het
Klk1b21 T A 7: 43,755,912 (GRCm39) I247N probably benign Het
Kntc1 T A 5: 123,897,115 (GRCm39) N159K probably benign Het
Krtap4-7 G T 11: 99,534,667 (GRCm39) C65* probably null Het
Lama2 C T 10: 26,877,147 (GRCm39) V2680M possibly damaging Het
Lipe T A 7: 25,088,007 (GRCm39) M61L probably benign Het
Med17 A G 9: 15,188,896 (GRCm39) M123T possibly damaging Het
Mrpl37 T C 4: 106,921,611 (GRCm39) N206S probably benign Het
Muc4 A T 16: 32,602,356 (GRCm39) N1390Y Het
Muc5ac C T 7: 141,354,008 (GRCm39) A869V possibly damaging Het
Nckap5l A G 15: 99,327,290 (GRCm39) V133A probably benign Het
Nin A T 12: 70,077,787 (GRCm39) probably benign Het
Nr1h2 C T 7: 44,200,768 (GRCm39) A287T probably damaging Het
Or8c16 A T 9: 38,130,865 (GRCm39) I246L possibly damaging Het
Patl1 A G 19: 11,899,898 (GRCm39) E230G probably damaging Het
Pbxip1 T C 3: 89,355,235 (GRCm39) S585P probably damaging Het
Pde3b T A 7: 114,015,278 (GRCm39) W165R possibly damaging Het
Pdia4 A C 6: 47,773,464 (GRCm39) D628E probably benign Het
Pigo T A 4: 43,024,724 (GRCm39) H125L probably benign Het
Platr25 A T 13: 62,847,924 (GRCm39) *313K probably null Het
Plxdc1 A T 11: 97,846,337 (GRCm39) M169K possibly damaging Het
Pxk T C 14: 8,151,496 (GRCm38) I437T probably damaging Het
Rlf T C 4: 121,004,010 (GRCm39) T1767A possibly damaging Het
Rnf123 T A 9: 107,948,363 (GRCm39) D110V probably damaging Het
Rnf185 A T 11: 3,368,052 (GRCm39) F209I probably benign Het
Rpl4 A T 9: 64,082,242 (GRCm39) N47I probably damaging Het
Rsl1d1 A T 16: 11,017,512 (GRCm39) F151L probably damaging Het
Sema3d T C 5: 12,603,191 (GRCm39) probably null Het
Serhl A G 15: 82,986,126 (GRCm39) N80D probably benign Het
Sh3tc1 C A 5: 35,863,802 (GRCm39) R795L probably benign Het
Slc2a12 A T 10: 22,521,116 (GRCm39) T7S probably benign Het
Snrnp200 A G 2: 127,068,005 (GRCm39) Y834C probably damaging Het
Ss18 G C 18: 14,774,016 (GRCm39) Q258E probably damaging Het
Telo2 G A 17: 25,321,041 (GRCm39) L725F probably damaging Het
Tnxb A G 17: 34,934,882 (GRCm39) E2497G probably damaging Het
Tox2 A G 2: 163,163,360 (GRCm39) D111G Het
Trim16 G A 11: 62,731,763 (GRCm39) E545K probably benign Het
Trpm7 A G 2: 126,664,623 (GRCm39) W919R probably damaging Het
Ttbk1 G T 17: 46,756,127 (GRCm39) S1301* probably null Het
Txk T C 5: 72,889,122 (GRCm39) N144S probably damaging Het
Ubqln4 T A 3: 88,473,090 (GRCm39) V515E probably benign Het
Ush2a C T 1: 188,581,162 (GRCm39) R3681* probably null Het
Ythdf3 A T 3: 16,258,138 (GRCm39) N106I probably damaging Het
Zfp367 A T 13: 64,292,069 (GRCm39) C187* probably null Het
Zfp735 A G 11: 73,603,000 (GRCm39) D648G possibly damaging Het
Zic1 T C 9: 91,244,701 (GRCm39) probably benign Het
Zik1 A G 7: 10,223,826 (GRCm39) S424P 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
R6328:Ccdc88b UTSW 19 6,826,406 (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
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'- ATTTCAGCCTCCAAGCCCTG -3'
(R):5'- CCAGAACGATTTTGTTGGGATCG -3'

Sequencing Primer
(F):5'- TCCAAGCCCTGCACCTCG -3'
(R):5'- TGGAAGATGCTTCTTTGACCTTTGAC -3'
Posted On 2021-03-08