Incidental Mutation 'IGL01347:Ccdc88b'
ID 75118
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccdc88b
Ensembl Gene ENSMUSG00000047810
Gene Name coiled-coil domain containing 88B
Synonyms 2610041P08Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01347
Quality Score
Status
Chromosome 19
Chromosomal Location 6821991-6835579 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 6822454 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 1475 (L1475P)
Ref Sequence ENSEMBL: ENSMUSP00000109067 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025903] [ENSMUST00000113440] [ENSMUST00000170516]
AlphaFold Q4QRL3
Predicted Effect probably benign
Transcript: ENSMUST00000025903
SMART Domains Protein: ENSMUSP00000025903
Gene: ENSMUSG00000024952

DomainStartEndE-ValueType
S_TKc 33 301 1.93e-98 SMART
S_TK_X 302 363 5.72e-14 SMART
low complexity region 381 395 N/A INTRINSIC
S_TKc 411 674 1.15e-87 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000113440
AA Change: L1475P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109067
Gene: ENSMUSG00000047810
AA Change: L1475P

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
Predicted Effect probably benign
Transcript: ENSMUST00000170516
SMART Domains Protein: ENSMUSP00000131581
Gene: ENSMUSG00000024952

DomainStartEndE-ValueType
S_TKc 33 301 1.93e-98 SMART
S_TK_X 302 363 5.72e-14 SMART
low complexity region 381 395 N/A INTRINSIC
S_TKc 411 674 1.15e-87 SMART
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aoc1l2 A T 6: 48,909,477 (GRCm39) Y574F probably benign Het
Apc C T 18: 34,450,723 (GRCm39) P2506S probably damaging Het
Bdp1 T A 13: 100,206,711 (GRCm39) K610N possibly damaging Het
Bri3bp T G 5: 125,531,581 (GRCm39) C176G probably damaging Het
Carnmt1 A G 19: 18,668,818 (GRCm39) I248V probably benign Het
Cfap100 C T 6: 90,383,103 (GRCm39) V511M possibly damaging Het
Chchd3 T C 6: 32,780,838 (GRCm39) N78S probably benign Het
Cnnm4 G A 1: 36,537,115 (GRCm39) E480K possibly damaging Het
Cyp2d34 T A 15: 82,500,978 (GRCm39) I385F possibly damaging Het
D930048N14Rik T A 11: 51,545,615 (GRCm39) probably benign Het
Dgkg A T 16: 22,419,340 (GRCm39) D53E probably benign Het
Dlx3 T A 11: 95,011,359 (GRCm39) L71H probably damaging Het
Egln2 A C 7: 26,859,717 (GRCm39) V332G probably null Het
Entpd2 A G 2: 25,288,746 (GRCm39) Q250R probably benign Het
Epyc A G 10: 97,510,593 (GRCm39) D132G probably damaging Het
Fxr2 A G 11: 69,543,114 (GRCm39) D637G probably benign Het
Gapvd1 A G 2: 34,596,708 (GRCm39) probably null Het
Gbp11 G A 5: 105,479,194 (GRCm39) probably benign Het
Gm17175 A T 14: 51,808,307 (GRCm39) C162S probably damaging Het
Gm5499 C T 17: 87,386,339 (GRCm39) noncoding transcript Het
Gps1 T C 11: 120,679,086 (GRCm39) V378A probably benign Het
Grik1 C T 16: 87,754,481 (GRCm39) R368Q probably benign Het
Gsap A G 5: 21,431,318 (GRCm39) E214G probably benign Het
H2bc13 A G 13: 21,900,064 (GRCm39) Y84H probably damaging Het
Jdp2 T C 12: 85,655,020 (GRCm39) S28P probably benign Het
Kif26b T C 1: 178,698,240 (GRCm39) F577S probably damaging Het
Kl G A 5: 150,904,130 (GRCm39) G294D probably damaging Het
Lgsn T A 1: 31,243,041 (GRCm39) D374E probably damaging Het
Lman1 T C 18: 66,124,681 (GRCm39) I353V probably damaging Het
Lmna T C 3: 88,392,270 (GRCm39) H374R probably benign Het
Lrrc57 A G 2: 120,439,286 (GRCm39) S31P probably benign Het
Lum T A 10: 97,404,547 (GRCm39) N147K probably damaging Het
Or6n2 T C 1: 173,897,632 (GRCm39) I256T probably benign Het
Or7a41 A G 10: 78,871,445 (GRCm39) T272A probably benign Het
P4ha3 C A 7: 99,955,140 (GRCm39) L332I probably damaging Het
Pelp1 A G 11: 70,286,505 (GRCm39) I541T probably damaging Het
Pja2 A C 17: 64,620,023 (GRCm39) S2A probably benign Het
Rhbdl3 T C 11: 80,244,268 (GRCm39) L325P probably damaging Het
Robo2 T C 16: 74,149,744 (GRCm39) D28G probably damaging Het
Rpa1 A G 11: 75,198,111 (GRCm39) Y470H probably damaging Het
Rtn3 T C 19: 7,434,645 (GRCm39) N430S probably benign Het
Scg2 T A 1: 79,414,538 (GRCm39) I62L probably benign Het
Scn5a T A 9: 119,391,507 (GRCm39) K62* probably null Het
Sec23ip T C 7: 128,364,129 (GRCm39) V469A probably benign Het
Shank1 A G 7: 43,991,544 (GRCm39) T663A unknown Het
Slco1a7 A T 6: 141,700,192 (GRCm39) Y113* probably null Het
Stab2 G T 10: 86,737,567 (GRCm39) probably null Het
Tmcc3 T C 10: 94,418,147 (GRCm39) L305P probably damaging Het
Tmem145 A G 7: 25,014,260 (GRCm39) N458S probably damaging Het
Tpr G A 1: 150,302,738 (GRCm39) R1412Q probably damaging Het
Wdr1 A T 5: 38,703,058 (GRCm39) F173I possibly damaging Het
Wdr17 C T 8: 55,104,380 (GRCm39) V898I probably benign Het
Wdr64 A T 1: 175,547,899 (GRCm39) L145F probably benign Het
Wnt10b A G 15: 98,674,826 (GRCm39) probably benign Het
Zfyve26 A T 12: 79,298,957 (GRCm39) probably null Het
Other mutations in Ccdc88b
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2013-10-07