Incidental Mutation 'R6957:Cep164'
ID 541519
Institutional Source Beutler Lab
Gene Symbol Cep164
Ensembl Gene ENSMUSG00000043987
Gene Name centrosomal protein 164
Synonyms
MMRRC Submission 045068-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6957 (G1)
Quality Score 225.009
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 45683578 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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 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: ENSMUST00000213154
Predicted Effect probably null
Transcript: ENSMUST00000216284
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.0%
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310009B15Rik A G 1: 138,779,857 (GRCm39) S132P probably damaging Het
Abcb5 A G 12: 118,871,270 (GRCm39) F710L probably damaging Het
Acsm4 T G 7: 119,310,622 (GRCm39) V503G probably damaging Het
Adam26a T A 8: 44,021,940 (GRCm39) M517L probably benign Het
Adcy10 C A 1: 165,391,854 (GRCm39) L1345I probably damaging Het
Adgrv1 T C 13: 81,715,609 (GRCm39) I860V probably benign Het
Alcam T C 16: 52,097,257 (GRCm39) D333G probably damaging Het
Amt C A 9: 108,177,032 (GRCm39) F213L possibly damaging Het
Ascc3 A G 10: 50,604,278 (GRCm39) T1333A probably damaging Het
Asxl3 C A 18: 22,655,148 (GRCm39) L1053I probably damaging Het
Atxn10 T C 15: 85,220,699 (GRCm39) S12P probably damaging Het
AU021092 T C 16: 5,030,017 (GRCm39) I333V probably benign Het
Birc6 A G 17: 74,886,486 (GRCm39) I577V probably benign Het
Cadm2 A T 16: 66,609,726 (GRCm39) F132I probably benign Het
Casp3 T A 8: 47,087,308 (GRCm39) V85D probably damaging Het
Ccdc168 C T 1: 44,096,367 (GRCm39) C1577Y probably benign Het
Ccdc85a A T 11: 28,342,944 (GRCm39) probably benign Het
Cd22 T C 7: 30,566,999 (GRCm39) R760G possibly damaging Het
Cela3a A T 4: 137,135,441 (GRCm39) W41R probably damaging Het
Cntnap5b A G 1: 100,202,197 (GRCm39) E348G probably benign Het
Ddx20 C A 3: 105,591,626 (GRCm39) K181N probably benign Het
Dnah14 G C 1: 181,612,740 (GRCm39) A3846P possibly damaging Het
Ern1 A C 11: 106,294,365 (GRCm39) I813S probably damaging Het
Fam181a G A 12: 103,282,773 (GRCm39) G226D probably damaging Het
Fam186a T A 15: 99,844,357 (GRCm39) D629V unknown Het
Gipr T A 7: 18,898,529 (GRCm39) T26S probably benign Het
Gm3159 A G 14: 4,398,530 (GRCm38) R74G possibly damaging Het
Greb1l G A 18: 10,558,786 (GRCm39) V1814I probably benign Het
Hacd1 A T 2: 14,049,664 (GRCm39) V98E probably damaging Het
Iars1 T G 13: 49,875,637 (GRCm39) F775V probably damaging Het
Il12rb2 G A 6: 67,269,636 (GRCm39) L726F possibly damaging Het
Itih4 T C 14: 30,614,560 (GRCm39) V474A probably damaging Het
Kmt2a A C 9: 44,731,319 (GRCm39) probably benign Het
Ktn1 T A 14: 47,904,810 (GRCm39) L196* probably null Het
Lipo4 A G 19: 33,476,767 (GRCm39) V327A probably benign Het
Lratd2 T C 15: 60,694,934 (GRCm39) T271A probably benign Het
Lrit1 G C 14: 36,782,052 (GRCm39) V242L probably damaging Het
Lrp4 C A 2: 91,317,387 (GRCm39) T837K probably damaging Het
Mad1l1 G T 5: 140,051,572 (GRCm39) F664L probably damaging Het
Mecr A G 4: 131,589,172 (GRCm39) T247A probably benign Het
Msi1 G A 5: 115,583,483 (GRCm39) A228T probably benign Het
Mup5 T A 4: 61,751,273 (GRCm39) N125I probably damaging Het
Mybl2 C T 2: 162,914,728 (GRCm39) S282F possibly damaging Het
Myom2 G A 8: 15,167,741 (GRCm39) A1109T probably null Het
Nalcn T C 14: 123,744,966 (GRCm39) D354G probably damaging Het
Nckap1l T C 15: 103,399,938 (GRCm39) V1040A possibly damaging Het
Nlrp12 T A 7: 3,271,160 (GRCm39) D1051V probably damaging Het
Nudt7 A G 8: 114,860,385 (GRCm39) K16R probably benign Het
Or4b1 G T 2: 89,979,494 (GRCm39) Y285* probably null Het
Or8g29-ps1 A G 9: 39,200,577 (GRCm39) V203A unknown Het
Paqr3 A T 5: 97,256,110 (GRCm39) I88K possibly damaging Het
Parp9 A G 16: 35,768,716 (GRCm39) M299V probably benign Het
Pde4dip A T 3: 97,731,649 (GRCm39) probably null Het
Pex13 T G 11: 23,605,628 (GRCm39) M201L probably benign Het
Pfas C A 11: 68,884,709 (GRCm39) V498L probably benign Het
Phka2 G A X: 159,316,044 (GRCm39) V230I probably damaging Het
Plec T A 15: 76,070,414 (GRCm39) D932V probably damaging Het
Qng1 C A 13: 58,529,775 (GRCm39) C279F probably damaging Het
Qsox2 C T 2: 26,107,654 (GRCm39) A445T probably benign Het
Rapgef1 C A 2: 29,623,710 (GRCm39) Q820K possibly damaging Het
Samd13 A G 3: 146,368,424 (GRCm39) probably null Het
Samm50 G T 15: 84,082,850 (GRCm39) D104Y probably damaging Het
Sbk3 A T 7: 4,970,522 (GRCm39) F282L probably benign Het
Sfmbt1 C T 14: 30,509,546 (GRCm39) H342Y probably benign Het
Sgo2b CCATCATCATCATCATCATCAT CCATCATCATCATCATCAT 8: 64,384,489 (GRCm39) probably benign Het
Slc12a2 T A 18: 58,043,344 (GRCm39) L596* probably null Het
Spata31h1 A T 10: 82,129,620 (GRCm39) I1130K probably benign Het
St8sia3 T C 18: 64,404,853 (GRCm39) S377P probably benign Het
Stmnd1 T G 13: 46,427,375 (GRCm39) S28A probably benign Het
Syne3 A T 12: 104,920,561 (GRCm39) L458Q probably damaging Het
Synm C T 7: 67,385,848 (GRCm39) V163I probably benign Het
Tbc1d23 A G 16: 57,028,686 (GRCm39) C161R probably damaging Het
Tnfrsf4 G A 4: 156,100,625 (GRCm39) V215I probably benign Het
Vars2 T G 17: 35,977,967 (GRCm39) K67Q probably benign Het
Vmn2r13 A T 5: 109,304,753 (GRCm39) Y559* probably null Het
Wdpcp T C 11: 21,671,154 (GRCm39) I465T possibly damaging Het
Zwilch A C 9: 64,069,844 (GRCm39) probably null 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
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'- ACCAAGAATGCTGTGACCAAG -3'
(R):5'- AGCTGGGACACTTCAGCATC -3'

Sequencing Primer
(F):5'- AAGAAGCTCCAAGGGTGCCC -3'
(R):5'- AGCATCCACGCTAACATGGTTTG -3'
Posted On 2018-11-28