Incidental Mutation 'R7651:Cep164'
ID 590848
Institutional Source Beutler Lab
Gene Symbol Cep164
Ensembl Gene ENSMUSG00000043987
Gene Name centrosomal protein 164
Synonyms
MMRRC Submission 045728-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7651 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 45678244-45739984 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 45685150 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 869 (E869G)
Ref Sequence ENSEMBL: ENSMUSP00000150742 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000117194] [ENSMUST00000213154] [ENSMUST00000216284]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000117194
AA Change: E1030G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000114053
Gene: ENSMUSG00000043987
AA Change: E1030G

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 benign
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 possibly damaging
Transcript: ENSMUST00000213154
AA Change: E1731G

PolyPhen 2 Score 0.786 (Sensitivity: 0.85; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000216284
AA Change: E869G

PolyPhen 2 Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930438A08Rik T G 11: 58,184,188 (GRCm39) V302G Het
A230072I06Rik T C 8: 12,329,689 (GRCm39) I48T unknown Het
Ada T A 2: 163,574,275 (GRCm39) D127V probably damaging Het
Alb G C 5: 90,615,214 (GRCm39) R242P probably damaging Het
Ankrd34c T C 9: 89,611,463 (GRCm39) R293G possibly damaging Het
Ap2b1 T C 11: 83,230,256 (GRCm39) probably null Het
Arhgef16 A G 4: 154,375,524 (GRCm39) S157P probably damaging Het
Atp2b1 C T 10: 98,852,830 (GRCm39) L1036F probably damaging Het
Ccdc27 A T 4: 154,112,556 (GRCm39) I573N probably damaging Het
Colq A T 14: 31,250,292 (GRCm39) V381D possibly damaging Het
Drc1 A G 5: 30,516,958 (GRCm39) E519G probably benign Het
Drosha G A 15: 12,859,522 (GRCm39) V577I probably benign Het
Epg5 C T 18: 78,024,615 (GRCm39) Q1157* probably null Het
Eqtn T C 4: 94,811,944 (GRCm39) S150G possibly damaging Het
Fam110d C T 4: 133,978,959 (GRCm39) R173H probably damaging Het
Fam216a G A 5: 122,505,445 (GRCm39) H172Y probably damaging Het
Fbxw19 T A 9: 109,323,714 (GRCm39) D87V probably damaging Het
Fgr A T 4: 132,722,324 (GRCm39) I198F probably damaging Het
Flnc A G 6: 29,444,049 (GRCm39) D621G probably benign Het
Flt3 A C 5: 147,291,732 (GRCm39) Y573D probably damaging Het
Git2 A T 5: 114,871,296 (GRCm39) I603N probably damaging Het
Gm4559 C T 7: 141,827,553 (GRCm39) R183K unknown Het
Gnb5 T C 9: 75,250,853 (GRCm39) F326L probably damaging Het
Grm8 A T 6: 27,760,257 (GRCm39) W358R possibly damaging Het
Hoxa3 A G 6: 52,149,253 (GRCm39) V126A unknown Het
Hras T C 7: 140,772,064 (GRCm39) T144A possibly damaging Het
Hyal1 G A 9: 107,455,569 (GRCm39) R293H probably damaging Het
Ifnlr1 A G 4: 135,417,919 (GRCm39) S49G possibly damaging Het
Ighv8-11 C A 12: 115,531,005 (GRCm39) C41F probably benign Het
Jakmip1 A G 5: 37,291,617 (GRCm39) T689A probably damaging Het
Kcnb1 T C 2: 167,030,281 (GRCm39) H88R probably damaging Het
Kcnt2 T A 1: 140,498,199 (GRCm39) M892K probably benign Het
Lrba C A 3: 86,648,773 (GRCm39) S2507* probably null Het
Mbp C T 18: 82,572,499 (GRCm39) T65I probably damaging Het
Muc2 A T 7: 141,290,750 (GRCm39) Y12F Het
Muc4 T A 16: 32,576,949 (GRCm39) S80T Het
Muc5ac A G 7: 141,349,991 (GRCm39) D579G possibly damaging Het
Muc5b A G 7: 141,417,760 (GRCm39) T3569A possibly damaging Het
Myb C T 10: 21,032,273 (GRCm39) R36H probably damaging Het
Myo6 T C 9: 80,171,548 (GRCm39) probably null Het
Ogfod1 T C 8: 94,763,981 (GRCm39) V22A probably benign Het
Orai3 A G 7: 127,373,236 (GRCm39) I246V probably damaging Het
Otog A G 7: 45,891,185 (GRCm39) M68V probably benign Het
Pcdh20 T A 14: 88,706,589 (GRCm39) D237V probably damaging Het
Pcdhb18 T C 18: 37,624,046 (GRCm39) F459L probably benign Het
Pik3c2g C T 6: 139,599,070 (GRCm39) T62M possibly damaging Het
Plaa T C 4: 94,470,876 (GRCm39) Y420C probably damaging Het
Ppp1r9b C T 11: 94,892,768 (GRCm39) A656V probably benign Het
Pramel39-ps T C 5: 94,451,236 (GRCm39) T297A probably benign Het
Prg4 T A 1: 150,330,696 (GRCm39) E659V unknown Het
Prlhr C A 19: 60,455,583 (GRCm39) A328S probably benign Het
Prlr A T 15: 10,328,464 (GRCm39) D313V probably benign Het
Prune2 C T 19: 17,097,772 (GRCm39) T1092I probably damaging Het
Psme4 T A 11: 30,787,334 (GRCm39) L1043H probably damaging Het
Ptprr T C 10: 116,087,084 (GRCm39) V521A probably benign Het
Rab44 A T 17: 29,367,179 (GRCm39) D703V unknown Het
Rpl9-ps1 A T 11: 83,535,911 (GRCm39) Y179* probably null Het
Scg3 T A 9: 75,589,332 (GRCm39) N107I probably benign Het
Sh3bgrl2 T C 9: 83,430,525 (GRCm39) V5A possibly damaging Het
Slc7a12 T C 3: 14,546,509 (GRCm39) V218A probably benign Het
Sorcs2 A G 5: 36,185,322 (GRCm39) L918P probably damaging Het
Sox1 C A 8: 12,446,686 (GRCm39) A109E probably damaging Het
Syne1 T A 10: 5,155,074 (GRCm39) M5622L probably benign Het
Syne1 A T 10: 5,293,416 (GRCm39) L1305Q probably damaging Het
Tacc2 A T 7: 130,224,884 (GRCm39) H523L probably benign Het
Tas1r2 A T 4: 139,396,938 (GRCm39) D788V probably benign Het
Tcl1b5 T A 12: 105,142,694 (GRCm39) D7E possibly damaging Het
Tesc A G 5: 118,194,666 (GRCm39) D159G possibly damaging Het
Tm2d2 G T 8: 25,507,316 (GRCm39) probably benign Het
Tnfrsf11a T A 1: 105,737,171 (GRCm39) C93S probably damaging Het
Tnfsf4 T C 1: 161,244,593 (GRCm39) V94A probably benign Het
Trav13n-3 T A 14: 53,574,964 (GRCm39) Y69N probably benign Het
Utp20 T C 10: 88,590,457 (GRCm39) D2339G probably benign Het
Vmn1r225 A G 17: 20,722,611 (GRCm39) I17M possibly damaging Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Vmn2r114 G T 17: 23,509,986 (GRCm39) Y831* probably null Het
Vmn2r72 T A 7: 85,401,146 (GRCm39) N91I probably damaging Het
Zfp846 T C 9: 20,499,808 (GRCm39) S13P possibly damaging Het
Zfp934 G T 13: 62,666,327 (GRCm39) N116K probably benign 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
R5126:Cep164 UTSW 9 45,698,722 (GRCm39) critical splice donor site probably null
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
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'- TAGGGACCCACAACCTGTAC -3'
(R):5'- GTAGTGTCCGACAGTTCCTC -3'

Sequencing Primer
(F):5'- CAACCTGTACCCACAACTTTTTATAG -3'
(R):5'- GACAGTTCCTCTCTGCTGAG -3'
Posted On 2019-10-24