Incidental Mutation 'R5126:Cep164'
ID 393557
Institutional Source Beutler Lab
Gene Symbol Cep164
Ensembl Gene ENSMUSG00000043987
Gene Name centrosomal protein 164
Synonyms
MMRRC Submission 042714-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5126 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 45678244-45739984 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 45698722 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000150742 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000117194] [ENSMUST00000117194] [ENSMUST00000213154] [ENSMUST00000216284] [ENSMUST00000217554]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000117194
SMART Domains Protein: ENSMUSP00000114053
Gene: ENSMUSG00000043987

DomainStartEndE-ValueType
WW 57 89 1.99e-3 SMART
low complexity region 110 127 N/A INTRINSIC
low complexity region 189 201 N/A INTRINSIC
low complexity region 210 229 N/A INTRINSIC
low complexity region 362 375 N/A INTRINSIC
coiled coil region 511 735 N/A INTRINSIC
low complexity region 741 756 N/A INTRINSIC
coiled coil region 761 931 N/A INTRINSIC
low complexity region 956 962 N/A INTRINSIC
coiled coil region 1057 1084 N/A INTRINSIC
low complexity region 1095 1110 N/A INTRINSIC
low complexity region 1141 1168 N/A INTRINSIC
low complexity region 1185 1195 N/A INTRINSIC
low complexity region 1235 1248 N/A INTRINSIC
low complexity region 1309 1318 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000117194
SMART Domains Protein: ENSMUSP00000114053
Gene: ENSMUSG00000043987

DomainStartEndE-ValueType
WW 57 89 1.99e-3 SMART
low complexity region 110 127 N/A INTRINSIC
low complexity region 189 201 N/A INTRINSIC
low complexity region 210 229 N/A INTRINSIC
low complexity region 362 375 N/A INTRINSIC
coiled coil region 511 735 N/A INTRINSIC
low complexity region 741 756 N/A INTRINSIC
coiled coil region 761 931 N/A INTRINSIC
low complexity region 956 962 N/A INTRINSIC
coiled coil region 1057 1084 N/A INTRINSIC
low complexity region 1095 1110 N/A INTRINSIC
low complexity region 1141 1168 N/A INTRINSIC
low complexity region 1185 1195 N/A INTRINSIC
low complexity region 1235 1248 N/A INTRINSIC
low complexity region 1309 1318 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000132430
SMART Domains Protein: ENSMUSP00000117344
Gene: ENSMUSG00000043987

DomainStartEndE-ValueType
low complexity region 141 154 N/A INTRINSIC
coiled coil region 325 612 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000132430
SMART Domains Protein: ENSMUSP00000117344
Gene: ENSMUSG00000043987

DomainStartEndE-ValueType
low complexity region 141 154 N/A INTRINSIC
coiled coil region 325 612 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000213154
Predicted Effect probably null
Transcript: ENSMUST00000216284
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217022
Predicted Effect probably benign
Transcript: ENSMUST00000217554
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.1%
  • 20x: 88.0%
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 involved in microtubule organization, DNA damage response, and chromosome segregation. The encoded protein is required for assembly of primary cilia and localizes to mature centrioles. Defects in this gene are a cause of nephronophthisis-related ciliopathies. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts13 G A 2: 26,886,927 (GRCm39) probably null Het
Ahdc1 T A 4: 132,790,833 (GRCm39) F691L probably benign Het
Ahsa2 T A 11: 23,441,036 (GRCm39) I202F possibly damaging Het
Akap10 C T 11: 61,807,015 (GRCm39) A72T probably damaging Het
Ccnb1 C G 13: 100,918,283 (GRCm39) Q121H possibly damaging Het
Cltc A G 11: 86,603,495 (GRCm39) V781A probably damaging Het
Dchs1 A G 7: 105,402,724 (GRCm39) S3273P probably damaging Het
Dnajc16 C A 4: 141,501,820 (GRCm39) V337L probably benign Het
Fstl4 T C 11: 53,077,388 (GRCm39) V715A possibly damaging Het
Grik1 C T 16: 87,744,747 (GRCm39) G502S probably damaging Het
Ifi213 A G 1: 173,417,581 (GRCm39) V277A possibly damaging Het
Ints15 G T 5: 143,293,701 (GRCm39) P259T probably benign Het
Jph3 T C 8: 122,479,787 (GRCm39) V155A possibly damaging Het
Katnal2 T C 18: 77,105,294 (GRCm39) E51G probably benign Het
Kcna2 T A 3: 107,011,550 (GRCm39) F44I probably damaging Het
Kcna6 T C 6: 126,715,695 (GRCm39) E398G probably damaging Het
Kif15 A T 9: 122,804,823 (GRCm39) H190L probably damaging Het
Lmbrd2 A G 15: 9,194,788 (GRCm39) R597G possibly damaging Het
Lrtm2 T A 6: 119,294,400 (GRCm39) M244L probably benign Het
Ly6c2 A C 15: 74,983,492 (GRCm39) S9A possibly damaging Het
Mbd4 T A 6: 115,825,929 (GRCm39) probably null Het
Mfsd2b A G 12: 4,916,183 (GRCm39) I269T probably benign Het
Muc6 A T 7: 141,237,564 (GRCm39) C218S probably damaging Het
Nlrc5 G T 8: 95,201,299 (GRCm39) R131L possibly damaging Het
Nlrp1b A T 11: 71,072,359 (GRCm39) C495S possibly damaging Het
Nsf C A 11: 103,773,618 (GRCm39) E299* probably null Het
Obscn T A 11: 58,967,889 (GRCm39) E336D probably damaging Het
Or14j9 G T 17: 37,874,719 (GRCm39) T161K probably benign Het
Pan3 A G 5: 147,464,008 (GRCm39) N587S probably benign Het
Pgap6 T C 17: 26,340,614 (GRCm39) I666T probably damaging Het
Plch2 T C 4: 155,084,976 (GRCm39) D321G probably damaging Het
Plscr4 G A 9: 92,370,794 (GRCm39) D254N probably damaging Het
Pnma8a A C 7: 16,695,242 (GRCm39) M366L probably benign Het
Pnpla7 G T 2: 24,870,056 (GRCm39) C12F possibly damaging Het
Ptprk G T 10: 28,451,640 (GRCm39) probably null Het
Rgs22 A G 15: 36,040,790 (GRCm39) V899A probably damaging Het
Ruvbl1 T A 6: 88,462,883 (GRCm39) C336S probably benign Het
Slc27a5 T A 7: 12,725,247 (GRCm39) H400L probably damaging Het
Slc66a1 T C 4: 139,029,843 (GRCm39) T63A probably benign Het
Slco1a4 A T 6: 141,761,308 (GRCm39) V435D possibly damaging Het
Snx14 A T 9: 88,264,152 (GRCm39) Y818N probably damaging Het
Tln2 A G 9: 67,165,817 (GRCm39) I2098T probably damaging Het
Tlr11 T C 14: 50,598,287 (GRCm39) L91P probably damaging Het
Tmem208 T A 8: 106,061,282 (GRCm39) F103I probably benign Het
Vmn2r3 C T 3: 64,166,740 (GRCm39) C797Y probably damaging Het
Vwde T A 6: 13,187,259 (GRCm39) M743L probably benign Het
Wdcp C A 12: 4,900,617 (GRCm39) R158S probably damaging Het
Zfp773 T C 7: 7,139,623 (GRCm39) T9A unknown Het
Other mutations in Cep164
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00983:Cep164 APN 9 45,686,554 (GRCm39) missense possibly damaging 0.46
IGL01571:Cep164 APN 9 45,705,636 (GRCm39) missense possibly damaging 0.82
IGL01985:Cep164 APN 9 45,690,904 (GRCm39) missense probably damaging 1.00
IGL01989:Cep164 APN 9 45,704,313 (GRCm39) splice site probably benign
IGL02130:Cep164 APN 9 45,691,090 (GRCm39) missense possibly damaging 0.82
IGL02598:Cep164 APN 9 45,682,002 (GRCm39) missense probably damaging 1.00
IGL03206:Cep164 APN 9 45,714,023 (GRCm39) missense probably benign 0.00
R0063:Cep164 UTSW 9 45,679,916 (GRCm39) missense possibly damaging 0.83
R0109:Cep164 UTSW 9 45,682,885 (GRCm39) missense probably damaging 1.00
R0528:Cep164 UTSW 9 45,688,234 (GRCm39) unclassified probably benign
R0532:Cep164 UTSW 9 45,721,124 (GRCm39) nonsense probably null
R1445:Cep164 UTSW 9 45,690,198 (GRCm39) missense possibly damaging 0.66
R1753:Cep164 UTSW 9 45,704,235 (GRCm39) missense probably damaging 0.99
R1824:Cep164 UTSW 9 45,690,226 (GRCm39) missense probably damaging 1.00
R1856:Cep164 UTSW 9 45,687,056 (GRCm39) splice site probably null
R1858:Cep164 UTSW 9 45,734,938 (GRCm39) splice site probably benign
R1900:Cep164 UTSW 9 45,721,123 (GRCm39) missense probably damaging 1.00
R1911:Cep164 UTSW 9 45,682,104 (GRCm39) missense probably benign 0.09
R2032:Cep164 UTSW 9 45,682,898 (GRCm39) missense probably damaging 1.00
R2133:Cep164 UTSW 9 45,714,481 (GRCm39) missense probably damaging 1.00
R2186:Cep164 UTSW 9 45,679,876 (GRCm39) missense probably damaging 1.00
R2511:Cep164 UTSW 9 45,686,547 (GRCm39) missense probably damaging 1.00
R4424:Cep164 UTSW 9 45,691,002 (GRCm39) missense possibly damaging 0.92
R5997:Cep164 UTSW 9 45,680,761 (GRCm39) missense possibly damaging 0.92
R6186:Cep164 UTSW 9 45,705,407 (GRCm39) missense probably damaging 0.98
R6357:Cep164 UTSW 9 45,682,182 (GRCm39) missense probably damaging 1.00
R6385:Cep164 UTSW 9 45,691,081 (GRCm39) missense probably damaging 0.99
R6632:Cep164 UTSW 9 45,691,088 (GRCm39) missense possibly damaging 0.66
R6957:Cep164 UTSW 9 45,683,578 (GRCm39) critical splice donor site probably null
R7310:Cep164 UTSW 9 45,686,664 (GRCm39) missense probably damaging 1.00
R7420:Cep164 UTSW 9 45,679,840 (GRCm39) missense probably benign 0.01
R7651:Cep164 UTSW 9 45,685,150 (GRCm39) missense probably benign 0.18
R7918:Cep164 UTSW 9 45,690,986 (GRCm39) critical splice donor site probably null
R7982:Cep164 UTSW 9 45,690,162 (GRCm39) missense probably benign 0.40
R8010:Cep164 UTSW 9 45,734,969 (GRCm39) missense unknown
R8391:Cep164 UTSW 9 45,718,491 (GRCm39) missense unknown
R8553:Cep164 UTSW 9 45,718,508 (GRCm39) unclassified probably benign
R8700:Cep164 UTSW 9 45,686,667 (GRCm39) critical splice acceptor site probably null
R9177:Cep164 UTSW 9 45,691,060 (GRCm39) missense probably damaging 1.00
R9348:Cep164 UTSW 9 45,717,708 (GRCm39) missense unknown
R9460:Cep164 UTSW 9 45,685,282 (GRCm39) missense probably benign
R9729:Cep164 UTSW 9 45,682,897 (GRCm39) missense probably damaging 1.00
X0024:Cep164 UTSW 9 45,687,161 (GRCm39) critical splice donor site probably null
X0028:Cep164 UTSW 9 45,682,265 (GRCm39) missense probably damaging 1.00
X0065:Cep164 UTSW 9 45,686,085 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- CACAGAGCCATGTGCAAAGTC -3'
(R):5'- GTGTACCTGCTGACCGTTTGAC -3'

Sequencing Primer
(F):5'- CATGTGCAAAGTCCTGCCAAGTG -3'
(R):5'- CTGCTGACCGTTTGACTCAGTG -3'
Posted On 2016-06-15