Incidental Mutation 'R1648:Cep104'
ID 174007
Institutional Source Beutler Lab
Gene Symbol Cep104
Ensembl Gene ENSMUSG00000039523
Gene Name centrosomal protein 104
Synonyms BC046331
MMRRC Submission 039684-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.432) question?
Stock # R1648 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 154059651-154093189 bp(+) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to A at 154063553 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000040762 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030893] [ENSMUST00000047497] [ENSMUST00000133607]
AlphaFold Q80V31
Predicted Effect probably benign
Transcript: ENSMUST00000030893
SMART Domains Protein: ENSMUSP00000030893
Gene: ENSMUSG00000029027

DomainStartEndE-ValueType
CAD 9 81 2.48e-41 SMART
Pfam:DFF40 103 324 9.4e-97 PFAM
low complexity region 330 344 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000047497
SMART Domains Protein: ENSMUSP00000040762
Gene: ENSMUSG00000039523

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: ENSMUST00000133607
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142671
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154458
Meta Mutation Damage Score 0.9486 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.4%
Validation Efficiency 95% (73/77)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 137,775,181 (GRCm39) N1457D probably benign Het
Adgb A G 10: 10,271,115 (GRCm39) F817L probably damaging Het
Akap6 A T 12: 53,188,789 (GRCm39) K2068* probably null Het
Alms1 T C 6: 85,655,384 (GRCm39) L3310P probably damaging Het
Ankrd27 T A 7: 35,303,278 (GRCm39) D219E probably benign Het
Atp10a T C 7: 58,434,575 (GRCm39) V283A probably damaging Het
Atp11a C T 8: 12,897,495 (GRCm39) S270L probably damaging Het
Casp3 T C 8: 47,091,109 (GRCm39) S254P probably benign Het
Cep170b C T 12: 112,702,806 (GRCm39) T423I probably damaging Het
Cfap58 A G 19: 47,943,844 (GRCm39) E348G probably benign Het
Chd6 A G 2: 160,883,978 (GRCm39) L89S probably damaging Het
Cyp2a22 T C 7: 26,631,793 (GRCm39) S488G probably damaging Het
D130040H23Rik C A 8: 69,755,633 (GRCm39) H363Q probably benign Het
Dcaf7 T A 11: 105,942,628 (GRCm39) F192I probably damaging Het
Ddx20 T C 3: 105,586,504 (GRCm39) I614V probably benign Het
Ehbp1 G A 11: 22,046,000 (GRCm39) T558I probably damaging Het
Eif2ak3 T A 6: 70,860,615 (GRCm39) V397D possibly damaging Het
Eif2b5 T C 16: 20,321,335 (GRCm39) V296A possibly damaging Het
Esr1 A G 10: 4,951,260 (GRCm39) E546G possibly damaging Het
Fras1 T A 5: 96,874,472 (GRCm39) probably null Het
G930045G22Rik T C 6: 50,823,698 (GRCm39) noncoding transcript Het
Gemin5 A T 11: 58,038,805 (GRCm39) L568* probably null Het
Gm22697+Rbm27 AGGTCCAGGCCCAGGCCCTGGTCCTGGCCCTGGCCCTGGTCCCGGCCCAGGCCC AGGTCCCGGCCCAGGCCC 18: 42,434,948 (GRCm39) probably benign Het
Gpr155 T C 2: 73,194,508 (GRCm39) probably null Het
Has1 A G 17: 18,070,247 (GRCm39) Y225H probably damaging Het
Hk3 A G 13: 55,162,274 (GRCm39) F110S probably damaging Het
Iars1 A G 13: 49,876,478 (GRCm39) K848E possibly damaging Het
Kif17 A G 4: 137,997,206 (GRCm39) Y43C probably damaging Het
Kif20b A T 19: 34,914,190 (GRCm39) T355S possibly damaging Het
Kif21a T C 15: 90,878,570 (GRCm39) T237A probably damaging Het
Klc1 T C 12: 111,743,321 (GRCm39) L216P probably damaging Het
Krt7 A C 15: 101,310,448 (GRCm39) S32R probably damaging Het
Lama3 A G 18: 12,665,256 (GRCm39) D2330G possibly damaging Het
Limch1 T A 5: 67,156,599 (GRCm39) S511R probably damaging Het
Luzp2 T A 7: 54,914,018 (GRCm39) probably null Het
Macc1 T C 12: 119,410,156 (GRCm39) M308T probably benign Het
Mroh9 T G 1: 162,873,625 (GRCm39) E510A probably damaging Het
Myo1h G T 5: 114,474,336 (GRCm39) L458F probably damaging Het
Neto1 A T 18: 86,518,179 (GRCm39) Y528F probably damaging Het
Nlrp9b T A 7: 19,760,469 (GRCm39) C187S possibly damaging Het
Nup160 T C 2: 90,540,432 (GRCm39) Y854H probably damaging Het
Odc1 T C 12: 17,598,538 (GRCm39) probably benign Het
Or10a3n A G 7: 108,492,972 (GRCm39) I214T probably damaging Het
Or51a10 A G 7: 103,699,376 (GRCm39) Y62H probably damaging Het
Or5an10 T A 19: 12,276,023 (GRCm39) I158L probably benign Het
Plcb2 A T 2: 118,554,261 (GRCm39) M64K possibly damaging Het
Plcxd3 A T 15: 4,405,291 (GRCm39) I33F probably benign Het
Postn A G 3: 54,283,522 (GRCm39) T534A probably damaging Het
Prkd2 T A 7: 16,591,732 (GRCm39) F588I possibly damaging Het
Prrg4 C A 2: 104,663,088 (GRCm39) A173S probably benign Het
Rinl C T 7: 28,497,057 (GRCm39) A519V probably damaging Het
Rpgrip1l A C 8: 91,979,517 (GRCm39) V975G probably damaging Het
Rps6ka4 C A 19: 6,816,730 (GRCm39) V118L probably benign Het
Rtkn T C 6: 83,112,975 (GRCm39) S16P probably damaging Het
Sbspon C A 1: 15,953,983 (GRCm39) R99L probably damaging Het
Sdf4 G A 4: 156,083,886 (GRCm39) A119T probably damaging Het
Sgpp1 T A 12: 75,762,990 (GRCm39) H397L possibly damaging Het
Shc2 T A 10: 79,461,945 (GRCm39) M367L probably benign Het
Slc26a5 T A 5: 22,018,974 (GRCm39) K590* probably null Het
Slc39a12 T C 2: 14,456,803 (GRCm39) V597A probably benign Het
Smcp A T 3: 92,491,788 (GRCm39) C20S unknown Het
Tdrd6 A C 17: 43,938,000 (GRCm39) V1016G possibly damaging Het
Tmem132c T A 5: 127,540,120 (GRCm39) probably benign Het
Tmem170b A T 13: 41,759,738 (GRCm39) Q16L probably null Het
Tmem30a A G 9: 79,700,311 (GRCm39) F61S probably damaging Het
Tnfsf13b T C 8: 10,081,534 (GRCm39) M232T probably damaging Het
Trip11 T A 12: 101,850,651 (GRCm39) K853* probably null Het
Tusc3 C A 8: 39,513,721 (GRCm39) S64* probably null Het
Vmn2r111 A T 17: 22,788,042 (GRCm39) D436E probably benign Het
Zfp607a T C 7: 27,578,493 (GRCm39) V521A probably benign Het
Zfp704 A T 3: 9,536,099 (GRCm39) S140R probably 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
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
Predicted Primers PCR Primer
(F):5'- AGTGATACCCATCCCCAGATCCTTC -3'
(R):5'- ACTGGGTCCTCTCAGAAACTCCAAG -3'

Sequencing Primer
(F):5'- GGGACTCCCATTAGGGCATAATC -3'
(R):5'- TCTCAGAAACTCCAAGAGAAAAAATG -3'
Posted On 2014-04-24