Incidental Mutation 'IGL02884:Cep104'
ID 362901
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cep104
Ensembl Gene ENSMUSG00000039523
Gene Name centrosomal protein 104
Synonyms BC046331
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.432) question?
Stock # IGL02884
Quality Score
Status
Chromosome 4
Chromosomal Location 154059651-154093189 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 154074319 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 524 (C524R)
Ref Sequence ENSEMBL: ENSMUSP00000040762 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047497]
AlphaFold Q80V31
Predicted Effect probably damaging
Transcript: ENSMUST00000047497
AA Change: C524R

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000040762
Gene: ENSMUSG00000039523
AA Change: C524R

DomainStartEndE-ValueType
coiled coil region 222 249 N/A INTRINSIC
low complexity region 288 301 N/A INTRINSIC
low complexity region 307 320 N/A INTRINSIC
SCOP:d1gw5b_ 523 646 3e-5 SMART
coiled coil region 688 730 N/A INTRINSIC
low complexity region 889 903 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155414
Predicted Effect unknown
Transcript: ENSMUST00000183790
AA Change: C130R
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 centrosomal protein required for ciliogenesis and for ciliary tip structural integrity. The mammalian protein contains three amino-terminal hydrophobic domains, two glycosylation sites, four cysteine-rich motifs, and two regions with homology to the glutamate receptor ionotropic, NMDA 1 protein. During ciliogenesis, the encoded protein translocates from the distal tips of the centrioles to the tip of the elongating cilium. Knockdown of the protein in human retinal pigment cells results in severe defects in ciliogenesis with structural deformities at the ciliary tips. Allelic variants of this gene are associated with the autosomal-recessive disorder Joubert syndrome, which is characterized by a distinctive mid-hindbrain and cerebellar malformation, oculomotor apraxia, irregular breathing, developmental delay, and ataxia. [provided by RefSeq, Feb 2016]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930438A08Rik A G 11: 58,178,302 (GRCm39) I121V probably benign Het
Adprh C T 16: 38,266,396 (GRCm39) V249I probably benign Het
Akap11 A T 14: 78,736,402 (GRCm39) M1797K probably benign Het
Akap6 T A 12: 52,933,405 (GRCm39) I299N probably benign Het
Akr1c12 A T 13: 4,322,211 (GRCm39) M277K possibly damaging Het
Ankrd17 A T 5: 90,412,616 (GRCm39) M1236K probably damaging Het
Arhgef11 A G 3: 87,635,313 (GRCm39) D874G probably damaging Het
Atg4b T C 1: 93,715,437 (GRCm39) probably benign Het
Bcl9 G A 3: 97,117,368 (GRCm39) P442L probably damaging Het
Ccdc107 A T 4: 43,495,228 (GRCm39) K98* probably null Het
Cenpl A G 1: 160,913,619 (GRCm39) Q343R probably benign Het
Clec3b C T 9: 122,985,827 (GRCm39) T75I probably benign Het
Col13a1 A T 10: 61,741,064 (GRCm39) probably benign Het
Crot C T 5: 9,028,197 (GRCm39) probably null Het
Ddo G A 10: 40,513,360 (GRCm39) V101I probably benign Het
Disp2 T C 2: 118,618,032 (GRCm39) probably benign Het
Dnmt3b A C 2: 153,516,297 (GRCm39) Y474S probably damaging Het
Dpp6 T A 5: 27,839,554 (GRCm39) N298K possibly damaging Het
Fbf1 C T 11: 116,037,339 (GRCm39) E940K probably damaging Het
Fgd6 A G 10: 93,881,501 (GRCm39) probably benign Het
H2-M10.2 T C 17: 36,595,568 (GRCm39) R241G probably damaging Het
Haghl A T 17: 26,002,072 (GRCm39) F207Y possibly damaging Het
Helt G A 8: 46,745,620 (GRCm39) R88C probably damaging Het
Igf2bp2 T C 16: 21,981,635 (GRCm39) K27E probably benign Het
Il1b T C 2: 129,207,022 (GRCm39) H246R probably benign Het
Itprid1 T C 6: 55,851,339 (GRCm39) probably null Het
Kcnu1 C T 8: 26,411,556 (GRCm39) S167L probably damaging Het
Kif16b A T 2: 142,544,534 (GRCm39) probably benign Het
Myh7 A T 14: 55,230,276 (GRCm39) S19T probably benign Het
Ncaph2 T C 15: 89,248,447 (GRCm39) probably null Het
Nlrp4c T C 7: 6,101,951 (GRCm39) L879P probably damaging Het
Nqo2 T A 13: 34,156,344 (GRCm39) N19K probably damaging Het
Or2r2 C T 6: 42,463,540 (GRCm39) V196M probably damaging Het
Osbpl1a C A 18: 12,952,635 (GRCm39) G93* probably null Het
Pdxdc1 A G 16: 13,661,659 (GRCm39) F459L possibly damaging Het
Phc2 A T 4: 128,601,809 (GRCm39) H88L probably damaging Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Ptchd4 A T 17: 42,813,340 (GRCm39) T414S possibly damaging Het
Rab7b A G 1: 131,626,280 (GRCm39) R103G probably damaging Het
Retnla A G 16: 48,662,943 (GRCm39) Y3C probably benign Het
Samd7 G A 3: 30,810,322 (GRCm39) R113H probably damaging Het
Shisa9 G A 16: 11,814,907 (GRCm39) probably benign Het
Soat1 A T 1: 156,268,926 (GRCm39) I208N possibly damaging Het
Stab1 C A 14: 30,872,100 (GRCm39) probably null Het
Tti2 C T 8: 31,641,505 (GRCm39) L210F possibly damaging Het
Ube2v2 A G 16: 15,374,349 (GRCm39) V77A probably benign Het
Ubr5 T C 15: 37,998,620 (GRCm39) E1617G probably damaging Het
Vmn2r16 T A 5: 109,508,757 (GRCm39) I495K possibly damaging Het
Vwce G T 19: 10,623,943 (GRCm39) R278L possibly damaging Het
Wdr26 C T 1: 181,010,349 (GRCm39) A551T probably damaging Het
Wee1 A G 7: 109,725,269 (GRCm39) I304V probably benign Het
Xrcc5 C T 1: 72,385,396 (GRCm39) H496Y possibly damaging Het
Zfp142 G T 1: 74,611,142 (GRCm39) S884R probably damaging Het
Other mutations in Cep104
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02755:Cep104 APN 4 154,081,416 (GRCm39) missense possibly damaging 0.93
IGL02928:Cep104 APN 4 154,065,716 (GRCm39) missense probably benign 0.18
IGL03119:Cep104 APN 4 154,066,181 (GRCm39) missense probably damaging 1.00
R0409:Cep104 UTSW 4 154,067,510 (GRCm39) splice site probably benign
R0505:Cep104 UTSW 4 154,080,761 (GRCm39) missense probably benign 0.00
R0600:Cep104 UTSW 4 154,091,249 (GRCm39) missense possibly damaging 0.58
R1208:Cep104 UTSW 4 154,069,836 (GRCm39) missense probably damaging 1.00
R1208:Cep104 UTSW 4 154,069,836 (GRCm39) missense probably damaging 1.00
R1221:Cep104 UTSW 4 154,072,902 (GRCm39) missense probably benign 0.00
R1338:Cep104 UTSW 4 154,078,965 (GRCm39) missense probably benign 0.01
R1528:Cep104 UTSW 4 154,078,965 (GRCm39) missense probably benign 0.01
R1648:Cep104 UTSW 4 154,063,553 (GRCm39) critical splice donor site probably null
R1831:Cep104 UTSW 4 154,087,003 (GRCm39) missense probably benign 0.30
R1832:Cep104 UTSW 4 154,087,003 (GRCm39) missense probably benign 0.30
R1911:Cep104 UTSW 4 154,091,255 (GRCm39) missense possibly damaging 0.74
R1914:Cep104 UTSW 4 154,074,296 (GRCm39) missense possibly damaging 0.79
R2516:Cep104 UTSW 4 154,073,603 (GRCm39) missense probably damaging 1.00
R2910:Cep104 UTSW 4 154,079,884 (GRCm39) splice site probably null
R2911:Cep104 UTSW 4 154,079,884 (GRCm39) splice site probably null
R3751:Cep104 UTSW 4 154,066,213 (GRCm39) missense probably damaging 1.00
R3828:Cep104 UTSW 4 154,069,400 (GRCm39) missense probably damaging 1.00
R3829:Cep104 UTSW 4 154,069,400 (GRCm39) missense probably damaging 1.00
R3830:Cep104 UTSW 4 154,069,400 (GRCm39) missense probably damaging 1.00
R4474:Cep104 UTSW 4 154,073,693 (GRCm39) missense possibly damaging 0.47
R4731:Cep104 UTSW 4 154,072,883 (GRCm39) missense probably damaging 1.00
R4732:Cep104 UTSW 4 154,072,883 (GRCm39) missense probably damaging 1.00
R4733:Cep104 UTSW 4 154,072,883 (GRCm39) missense probably damaging 1.00
R5306:Cep104 UTSW 4 154,090,699 (GRCm39) missense probably benign 0.02
R5449:Cep104 UTSW 4 154,069,762 (GRCm39) splice site probably null
R5567:Cep104 UTSW 4 154,086,734 (GRCm39) missense possibly damaging 0.64
R5761:Cep104 UTSW 4 154,065,681 (GRCm39) missense possibly damaging 0.63
R5980:Cep104 UTSW 4 154,072,930 (GRCm39) missense probably benign 0.00
R7003:Cep104 UTSW 4 154,078,018 (GRCm39) missense probably benign 0.00
R7179:Cep104 UTSW 4 154,077,324 (GRCm39) missense probably damaging 0.99
R7376:Cep104 UTSW 4 154,067,509 (GRCm39) splice site probably null
R8278:Cep104 UTSW 4 154,068,122 (GRCm39) missense possibly damaging 0.92
R8877:Cep104 UTSW 4 154,077,985 (GRCm39) missense probably damaging 0.98
R9035:Cep104 UTSW 4 154,063,462 (GRCm39) missense probably benign 0.39
R9060:Cep104 UTSW 4 154,074,281 (GRCm39) missense probably damaging 0.98
R9165:Cep104 UTSW 4 154,078,971 (GRCm39) critical splice donor site probably null
X0026:Cep104 UTSW 4 154,071,342 (GRCm39) missense probably benign
Posted On 2015-12-18