Incidental Mutation 'IGL01985:Cep164'
ID 181864
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cep164
Ensembl Gene ENSMUSG00000043987
Gene Name centrosomal protein 164
Synonyms
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01985
Quality Score
Status
Chromosome 9
Chromosomal Location 45678244-45739984 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 45690904 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 1266 (E1266K)
Ref Sequence ENSEMBL: ENSMUSP00000149815 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000117194] [ENSMUST00000213154] [ENSMUST00000216284] [ENSMUST00000217554]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000117194
AA Change: E565K

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000114053
Gene: ENSMUSG00000043987
AA Change: E565K

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 unknown
Transcript: ENSMUST00000132430
AA Change: E442K
SMART Domains Protein: ENSMUSP00000117344
Gene: ENSMUSG00000043987
AA Change: E442K

DomainStartEndE-ValueType
low complexity region 141 154 N/A INTRINSIC
coiled coil region 325 612 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000213154
AA Change: E1266K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000216284
AA Change: E405K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect probably benign
Transcript: ENSMUST00000217554
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 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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AAdacl4fm3 G A 4: 144,442,024 (GRCm39) Q76* probably null Het
Cass4 A C 2: 172,269,126 (GRCm39) S403R probably damaging Het
Ccdc175 A T 12: 72,175,052 (GRCm39) Y540* probably null Het
Clec12b T A 6: 129,359,334 (GRCm39) probably benign Het
Col6a5 T C 9: 105,814,482 (GRCm39) K510R unknown Het
Crisp4 G A 1: 18,204,289 (GRCm39) P101S probably damaging Het
Dapk1 T C 13: 60,884,074 (GRCm39) L614P probably damaging Het
Dip2c T C 13: 9,603,303 (GRCm39) probably benign Het
Dock7 A G 4: 98,911,614 (GRCm39) F589L probably benign Het
Dvl2 T A 11: 69,899,119 (GRCm39) V459E probably damaging Het
E2f6 T C 12: 16,869,064 (GRCm39) probably null Het
Exph5 T C 9: 53,287,869 (GRCm39) L1650P probably damaging Het
Farp2 A G 1: 93,535,324 (GRCm39) Y691C probably damaging Het
Fshb T C 2: 106,889,173 (GRCm39) T44A probably benign Het
Gm28044 T A 13: 67,495,958 (GRCm39) K28* probably null Het
Il12b G A 11: 44,298,881 (GRCm39) W112* probably null Het
Ino80 T C 2: 119,263,802 (GRCm39) T621A probably damaging Het
Irx5 T A 8: 93,086,155 (GRCm39) probably benign Het
Jmy T C 13: 93,596,144 (GRCm39) H495R possibly damaging Het
Kif21a A T 15: 90,875,970 (GRCm39) V321D probably damaging Het
Lrrc10 T A 10: 116,881,921 (GRCm39) D198E probably damaging Het
Lrsam1 T C 2: 32,818,103 (GRCm39) E651G probably benign Het
Mtarc1 A G 1: 184,519,931 (GRCm39) V230A probably damaging Het
Mylk4 T A 13: 32,901,564 (GRCm39) I475L possibly damaging Het
Myom3 G A 4: 135,493,013 (GRCm39) probably null Het
Or5ac19 A T 16: 59,089,442 (GRCm39) V196E probably benign Het
Pah G A 10: 87,414,844 (GRCm39) V399M probably damaging Het
Pik3r4 G A 9: 105,540,244 (GRCm39) E711K probably benign Het
Rbbp6 A G 7: 122,570,296 (GRCm39) K38E probably damaging Het
Ror1 G A 4: 100,283,161 (GRCm39) V409M possibly damaging Het
Slc6a11 T A 6: 114,111,853 (GRCm39) V140D probably benign Het
Srebf2 G T 15: 82,076,560 (GRCm39) A737S probably benign Het
Tcerg1 A G 18: 42,663,721 (GRCm39) T303A unknown Het
Tmem74 A T 15: 43,730,476 (GRCm39) I189N probably damaging Het
Tnr A G 1: 159,746,607 (GRCm39) D1242G possibly damaging Het
U2surp A T 9: 95,372,279 (GRCm39) F293L probably damaging Het
Uchl5 G A 1: 143,661,864 (GRCm39) probably benign Het
Usp34 T A 11: 23,402,565 (GRCm39) C2472S probably damaging Het
Usp42 G A 5: 143,700,940 (GRCm39) R1028W probably damaging Het
Vmn2r10 A G 5: 109,154,125 (GRCm39) S60P probably benign Het
Vmn2r31 G T 7: 7,397,510 (GRCm39) D249E probably benign Het
Vnn1 C T 10: 23,776,642 (GRCm39) T331I probably benign Het
Zmym6 G T 4: 126,994,541 (GRCm39) V232F probably damaging 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
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
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
Posted On 2014-05-07