Incidental Mutation 'R1911:Cep104'
ID 210251
Institutional Source Beutler Lab
Gene Symbol Cep104
Ensembl Gene ENSMUSG00000039523
Gene Name centrosomal protein 104
Synonyms BC046331
MMRRC Submission 039929-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.477) question?
Stock # R1911 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 154059651-154093189 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 154091255 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 925 (R925Q)
Ref Sequence ENSEMBL: ENSMUSP00000040762 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047497] [ENSMUST00000169622]
AlphaFold Q80V31
Predicted Effect possibly damaging
Transcript: ENSMUST00000047497
AA Change: R925Q

PolyPhen 2 Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000040762
Gene: ENSMUSG00000039523
AA Change: R925Q

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 probably benign
Transcript: ENSMUST00000169622
SMART Domains Protein: ENSMUSP00000133124
Gene: ENSMUSG00000029028

DomainStartEndE-ValueType
low complexity region 22 29 N/A INTRINSIC
low complexity region 32 58 N/A INTRINSIC
low complexity region 65 76 N/A INTRINSIC
LRR_TYP 122 145 2.61e-4 SMART
LRR_TYP 152 175 2.12e-4 SMART
LRR 177 199 3.75e0 SMART
LRR 202 224 9.77e1 SMART
LRR_TYP 225 248 2.27e-4 SMART
low complexity region 283 294 N/A INTRINSIC
low complexity region 299 314 N/A INTRINSIC
B3_4 353 529 8.94e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000183790
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 97.3%
  • 3x: 96.8%
  • 10x: 95.4%
  • 20x: 93.2%
Validation Efficiency 99% (99/100)
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: 96 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930590J08Rik T A 6: 91,927,050 (GRCm39) probably benign Het
Abca7 T C 10: 79,842,468 (GRCm39) V1134A probably benign Het
Acaa2 A G 18: 74,925,483 (GRCm39) E82G probably benign Het
Acap1 T C 11: 69,772,548 (GRCm39) D521G probably damaging Het
Adam19 T C 11: 46,012,281 (GRCm39) V259A probably damaging Het
Adss1 T C 12: 112,599,443 (GRCm39) V140A probably benign Het
Aif1 G A 17: 35,391,127 (GRCm39) P44L probably benign Het
Aldh3b1 T G 19: 3,971,187 (GRCm39) D159A probably damaging Het
Ank1 T C 8: 23,589,666 (GRCm39) V589A probably damaging Het
Ano2 G A 6: 125,990,654 (GRCm39) D803N probably benign Het
Arid1b A G 17: 5,393,241 (GRCm39) E2257G probably damaging Het
Asb17 T C 3: 153,550,138 (GRCm39) Y57H probably benign Het
Asph T C 4: 9,453,335 (GRCm39) E646G probably damaging Het
Aspm T A 1: 139,405,832 (GRCm39) I1573K probably benign Het
Bcas1 C A 2: 170,229,863 (GRCm39) D236Y probably damaging Het
Bcas2 G T 3: 103,079,113 (GRCm39) G9* probably null Het
Btaf1 A G 19: 36,964,030 (GRCm39) Q867R probably benign Het
Calhm3 C T 19: 47,143,908 (GRCm39) V132I possibly damaging Het
Ccer1 A T 10: 97,530,539 (GRCm39) I401F possibly damaging Het
Cdcp3 T C 7: 130,839,818 (GRCm39) V580A probably damaging Het
Cecr2 T A 6: 120,739,526 (GRCm39) probably benign Het
Cep164 T A 9: 45,682,104 (GRCm39) M1900L probably benign Het
Crybg1 A G 10: 43,873,673 (GRCm39) V1145A possibly damaging Het
Cyp2a4 T A 7: 26,008,399 (GRCm39) N180K possibly damaging Het
Dennd4a T C 9: 64,796,368 (GRCm39) L798P probably damaging Het
Dmxl1 T C 18: 50,011,230 (GRCm39) I1129T probably benign Het
Dnah2 T C 11: 69,406,578 (GRCm39) N555D possibly damaging Het
Dock1 T A 7: 134,601,029 (GRCm39) M988K probably damaging Het
Elp4 T A 2: 105,533,088 (GRCm39) H419L probably damaging Het
Endov T C 11: 119,393,177 (GRCm39) V109A possibly damaging Het
Epha8 T C 4: 136,663,625 (GRCm39) Y477C probably damaging Het
Erlin1 A G 19: 44,037,561 (GRCm39) M188T probably damaging Het
Fhip1a T A 3: 85,568,525 (GRCm39) D998V probably benign Het
Fhod3 A T 18: 25,245,643 (GRCm39) D1231V possibly damaging Het
Gimap3 T A 6: 48,742,646 (GRCm39) I95F possibly damaging Het
Gm10717 T G 9: 3,026,317 (GRCm39) F205C probably damaging Het
Grk1 C A 8: 13,457,923 (GRCm39) D274E probably damaging Het
Gsdmc2 G A 15: 63,699,621 (GRCm39) A269V probably benign Het
Krt33a T A 11: 99,903,175 (GRCm39) Q289L probably benign Het
Krt76 T A 15: 101,796,600 (GRCm39) K403* probably null Het
Lcn4 T C 2: 26,560,607 (GRCm39) probably benign Het
Mab21l1 T C 3: 55,691,048 (GRCm39) S212P possibly damaging Het
Mapk8ip3 A C 17: 25,123,025 (GRCm39) D610E probably benign Het
Mastl G T 2: 23,022,692 (GRCm39) S677* probably null Het
Mfap3 T C 11: 57,420,562 (GRCm39) F181S probably damaging Het
Mlkl T C 8: 112,038,732 (GRCm39) probably benign Het
Mov10 G A 3: 104,708,876 (GRCm39) probably benign Het
Muc5ac T C 7: 141,350,041 (GRCm39) F595L probably benign Het
Nbas T A 12: 13,616,145 (GRCm39) C2228S probably benign Het
Nit2 G A 16: 56,982,046 (GRCm39) probably benign Het
Nod1 C T 6: 54,921,425 (GRCm39) V298M probably damaging Het
Or3a4 C A 11: 73,945,210 (GRCm39) R125L probably damaging Het
Or4c111 A G 2: 88,843,565 (GRCm39) L281P probably damaging Het
Or52b1 T A 7: 104,978,590 (GRCm39) I270F probably benign Het
Or6c210 A T 10: 129,495,981 (GRCm39) D102V probably benign Het
Or7g12 T C 9: 18,900,196 (GRCm39) L304P probably damaging Het
Osbpl5 C A 7: 143,243,662 (GRCm39) R864L probably benign Het
Pcnt G A 10: 76,204,650 (GRCm39) T2585M possibly damaging Het
Pepd C T 7: 34,634,174 (GRCm39) probably benign Het
Pou6f2 T C 13: 18,326,548 (GRCm39) I341V probably damaging Het
Pramel32 T C 4: 88,548,309 (GRCm39) Q32R possibly damaging Het
Prune2 T A 19: 17,091,038 (GRCm39) F281I probably benign Het
Psg19 T G 7: 18,528,193 (GRCm39) Q183H probably damaging Het
Psme4 T G 11: 30,765,658 (GRCm39) S587A probably benign Het
Ptpro T C 6: 137,377,617 (GRCm39) probably benign Het
Pttg1ip2 C A 5: 5,502,019 (GRCm39) W144C probably benign Het
Rasgrp4 T C 7: 28,838,302 (GRCm39) V92A probably damaging Het
Rem1 G A 2: 152,476,455 (GRCm39) V238M probably damaging Het
Rexo5 C T 7: 119,398,867 (GRCm39) A68V probably damaging Het
Robo2 A T 16: 73,755,213 (GRCm39) N769K probably damaging Het
Sfrp5 C T 19: 42,187,237 (GRCm39) V278I probably benign Het
Sidt1 A G 16: 44,102,234 (GRCm39) S309P possibly damaging Het
Slc22a6 A C 19: 8,599,246 (GRCm39) Q292H probably benign Het
Slc4a3 G A 1: 75,530,367 (GRCm39) R690H probably damaging Het
Snx7 A T 3: 117,623,317 (GRCm39) probably null Het
Spag6 T A 2: 18,720,616 (GRCm39) Y129* probably null Het
Srcap T C 7: 127,133,994 (GRCm39) I905T probably damaging Het
St6gal1 T G 16: 23,140,383 (GRCm39) S185A probably damaging Het
Sult6b1 G A 17: 79,196,393 (GRCm39) H250Y possibly damaging Het
Tdrd6 T G 17: 43,937,979 (GRCm39) N1023T probably benign Het
Tecta C T 9: 42,249,232 (GRCm39) E1877K probably damaging Het
Tex10 C T 4: 48,456,800 (GRCm39) R637Q probably benign Het
Tex14 T A 11: 87,385,861 (GRCm39) D240E probably damaging Het
Tex47 T C 5: 7,355,022 (GRCm39) Y68H probably damaging Het
Thbs2 A G 17: 14,910,104 (GRCm39) V165A probably benign Het
Tmem126b T A 7: 90,118,367 (GRCm39) Y171F possibly damaging Het
Tpsg1 G T 17: 25,592,374 (GRCm39) M46I probably benign Het
Trmt2a A G 16: 18,069,070 (GRCm39) K304R probably benign Het
Ttc28 G T 5: 111,428,616 (GRCm39) R1845L possibly damaging Het
Umodl1 A T 17: 31,211,128 (GRCm39) T884S possibly damaging Het
Vmn2r77 A G 7: 86,461,001 (GRCm39) K776E probably damaging Het
Vmn2r88 T C 14: 51,655,671 (GRCm39) S627P probably damaging Het
Vrk1 T C 12: 106,024,236 (GRCm39) probably null Het
Zfp644 A G 5: 106,783,137 (GRCm39) M1079T possibly damaging Het
Znrf1 T C 8: 112,348,233 (GRCm39) *41Q probably null Het
Znrf1 T C 8: 112,348,244 (GRCm39) F183L possibly damaging Het
Other mutations in Cep104
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02755:Cep104 APN 4 154,081,416 (GRCm39) missense possibly damaging 0.93
IGL02884:Cep104 APN 4 154,074,319 (GRCm39) missense probably damaging 0.96
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
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
Predicted Primers PCR Primer
(F):5'- ACCTGTAGATGAGTCCCCTTC -3'
(R):5'- GGGTGTATCTTCTCAGCAGC -3'

Sequencing Primer
(F):5'- ATGAGTCCCCTTCTCATGTGC -3'
(R):5'- TATCTTCTCAGCAGCGGGGAAG -3'
Posted On 2014-06-30