Incidental Mutation 'IGL02412:Ccdc88b'
ID294375
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? Non essential (E-score: 0.000) question?
Stock #IGL02412
Quality Score
Status
Chromosome19
Chromosomal Location6844623-6858211 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 6846644 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 1414 (F1414I)
Ref Sequence ENSEMBL: ENSMUSP00000109067 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113440]
Predicted Effect probably damaging
Transcript: ENSMUST00000113440
AA Change: F1414I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109067
Gene: ENSMUSG00000047810
AA Change: F1414I

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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alms1 T A 6: 85,628,872 F2032L possibly damaging Het
Caps2 T C 10: 112,204,036 probably null Het
Cr1l T G 1: 195,114,772 Y319S probably damaging Het
Cr1l C T 1: 195,114,766 G283E probably damaging Het
Csmd2 G A 4: 128,513,372 probably benign Het
Dhx37 T A 5: 125,431,628 K81M probably damaging Het
Dzip3 T A 16: 48,958,457 M326L probably benign Het
Exosc10 A G 4: 148,568,392 D488G probably benign Het
Gm2058 G A 7: 39,589,033 noncoding transcript Het
Gm43638 T A 5: 87,486,136 Q204L possibly damaging Het
Gm4847 T C 1: 166,641,738 D119G probably damaging Het
Gnb3 A C 6: 124,837,462 M120R probably benign Het
Il16 A C 7: 83,652,691 D74E probably benign Het
Kpna1 T C 16: 36,031,191 F382L probably benign Het
Krt33a G T 11: 100,011,979 Q340K probably benign Het
Lrrc17 T A 5: 21,560,879 S120T possibly damaging Het
Mapk3 C A 7: 126,763,038 Y56* probably null Het
Mfhas1 C T 8: 35,588,815 A148V probably benign Het
Npr2 A G 4: 43,647,005 I713V probably damaging Het
Obp1a T A X: 78,088,374 Y108F probably damaging Het
Olfr18 T A 9: 20,314,639 S86C probably benign Het
Olfr203 T A 16: 59,303,192 L13H probably damaging Het
Olfr429 T C 1: 174,089,243 F68L probably benign Het
Olfr583 A T 7: 103,052,152 M285L probably benign Het
Pias1 A T 9: 62,893,139 N430K probably benign Het
Ralgapa2 G T 2: 146,412,132 A836D probably damaging Het
Rftn2 T C 1: 55,206,338 E238G probably benign Het
Samt4 T G X: 154,484,122 S86A probably damaging Het
Setd2 T C 9: 110,550,774 M1219T probably benign Het
Sh3pxd2b T A 11: 32,387,992 D99E probably damaging Het
Sh3rf1 A T 8: 61,372,689 T573S probably benign Het
Sugct A G 13: 17,662,801 W82R probably damaging Het
Syt4 T G 18: 31,443,843 K153Q probably benign Het
Tbrg1 T C 9: 37,652,612 probably null Het
Tex36 C T 7: 133,587,408 R145K probably benign Het
Tfap2b A T 1: 19,219,203 D166V probably damaging Het
Trhde T C 10: 114,486,925 Y694C probably damaging Het
Trpc1 G A 9: 95,736,861 L146F probably damaging Het
Ttc29 G A 8: 78,276,940 E262K possibly damaging Het
Ttn G T 2: 76,782,347 D17129E probably benign Het
Ttn A T 2: 76,716,949 I32251N probably damaging Het
Ucma T A 2: 4,976,825 I47N probably damaging Het
Vmn1r13 A T 6: 57,210,489 K211M possibly damaging Het
Vmn2r95 A C 17: 18,439,956 H210P probably damaging Het
Xpc T C 6: 91,499,785 E444G probably benign Het
Yy1 T C 12: 108,794,097 probably benign Het
Zfp217 A G 2: 170,112,502 probably benign Het
Zfp318 T A 17: 46,409,117 Y1080* probably null 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
IGL02260:Ccdc88b APN 19 6855349 splice site probably benign
IGL02276:Ccdc88b APN 19 6856107 critical splice donor site probably null
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
R7073:Ccdc88b UTSW 19 6853962 missense probably benign 0.34
X0021:Ccdc88b UTSW 19 6853831 missense probably benign
Posted On2015-04-16