Incidental Mutation 'R2280:Cep170'
ID 243018
Institutional Source Beutler Lab
Gene Symbol Cep170
Ensembl Gene ENSMUSG00000057335
Gene Name centrosomal protein 170
Synonyms A330004A13Rik, 4933426L22Rik
MMRRC Submission 040279-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.728) question?
Stock # R2280 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 176561219-176641633 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 176602071 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 345 (V345E)
Ref Sequence ENSEMBL: ENSMUSP00000141769 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057037] [ENSMUST00000192961] [ENSMUST00000194727] [ENSMUST00000195717] [ENSMUST00000195433]
AlphaFold Q6A065
Predicted Effect probably benign
Transcript: ENSMUST00000057037
AA Change: V345E

PolyPhen 2 Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000059562
Gene: ENSMUSG00000057335
AA Change: V345E

DomainStartEndE-ValueType
FHA 22 73 1.27e-7 SMART
low complexity region 118 133 N/A INTRINSIC
low complexity region 717 731 N/A INTRINSIC
low complexity region 738 750 N/A INTRINSIC
low complexity region 770 782 N/A INTRINSIC
Pfam:CEP170_C 801 1496 3.3e-264 PFAM
low complexity region 1533 1545 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083639
Predicted Effect probably benign
Transcript: ENSMUST00000192961
SMART Domains Protein: ENSMUSP00000142271
Gene: ENSMUSG00000057335

DomainStartEndE-ValueType
FHA 22 73 1.27e-7 SMART
low complexity region 118 133 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193098
Predicted Effect unknown
Transcript: ENSMUST00000194371
AA Change: V152E
Predicted Effect probably benign
Transcript: ENSMUST00000194727
AA Change: V345E

PolyPhen 2 Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000141793
Gene: ENSMUSG00000057335
AA Change: V345E

DomainStartEndE-ValueType
FHA 22 73 1.27e-7 SMART
low complexity region 118 133 N/A INTRINSIC
low complexity region 717 731 N/A INTRINSIC
low complexity region 738 750 N/A INTRINSIC
low complexity region 770 782 N/A INTRINSIC
Pfam:CEP170_C 795 1509 8e-260 PFAM
low complexity region 1543 1555 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000195717
AA Change: V345E

PolyPhen 2 Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000141769
Gene: ENSMUSG00000057335
AA Change: V345E

DomainStartEndE-ValueType
FHA 22 73 1.27e-7 SMART
low complexity region 118 133 N/A INTRINSIC
low complexity region 717 731 N/A INTRINSIC
low complexity region 738 750 N/A INTRINSIC
low complexity region 770 782 N/A INTRINSIC
Pfam:CEP170_C 795 1499 1.8e-261 PFAM
low complexity region 1533 1545 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000195433
SMART Domains Protein: ENSMUSP00000142108
Gene: ENSMUSG00000057335

DomainStartEndE-ValueType
FHA 22 73 6.1e-10 SMART
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene is a component of the centrosome, a non-membraneous organelle that functions as the major microtubule-organizing center in animal cells. During interphase, the encoded protein localizes to the sub-distal appendages of mature centrioles, which are microtubule-based structures thought to help organize centrosomes. During mitosis, the protein associates with spindle microtubules near the centrosomes. The protein interacts with and is phosphorylated by polo-like kinase 1, and functions in maintaining microtubule organization and cell morphology. The human genome contains a putative transcribed pseudogene. Several alternatively spliced transcript variants of this gene have been found, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]
Allele List at MGI

All alleles(29) : Gene trapped(29)

Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alms1 A G 6: 85,654,955 (GRCm39) N2698S probably damaging Het
Ankrd37 T C 8: 46,452,413 (GRCm39) T19A probably benign Het
Anks1b A C 10: 90,802,164 (GRCm39) K353N probably damaging Het
Ano3 T A 2: 110,513,104 (GRCm39) E630D probably benign Het
Ap3b1 A G 13: 94,664,724 (GRCm39) M888V unknown Het
Apoh T A 11: 108,300,006 (GRCm39) Y218* probably null Het
Arhgef19 G A 4: 140,973,827 (GRCm39) G105S probably benign Het
Brd7 A G 8: 89,069,385 (GRCm39) S437P probably benign Het
Cacna2d4 A T 6: 119,327,002 (GRCm39) Q1089L possibly damaging Het
Ccdc168 T A 1: 44,095,620 (GRCm39) H1826L possibly damaging Het
Ccser1 A T 6: 61,547,799 (GRCm39) M49L probably damaging Het
Chaf1b T G 16: 93,688,459 (GRCm39) Y185D probably damaging Het
Clasp1 C T 1: 118,492,913 (GRCm39) P1153S probably benign Het
Clvs2 A T 10: 33,404,496 (GRCm39) I240N probably damaging Het
Cox8c A T 12: 102,865,713 (GRCm39) H30L possibly damaging Het
Crtac1 G A 19: 42,272,006 (GRCm39) L646F unknown Het
Cyp46a1 T C 12: 108,321,730 (GRCm39) S319P probably damaging Het
Dcdc5 G A 2: 106,202,867 (GRCm39) noncoding transcript Het
Ddx4 T C 13: 112,757,190 (GRCm39) I377V probably benign Het
Dis3l T A 9: 64,225,076 (GRCm39) N407I possibly damaging Het
Dysf A C 6: 84,041,476 (GRCm39) T161P probably damaging Het
Ecsit C T 9: 21,987,836 (GRCm39) V68I possibly damaging Het
Ei24 A G 9: 36,693,635 (GRCm39) probably null Het
Fbxl19 A T 7: 127,347,540 (GRCm39) D32V possibly damaging Het
Fgd5 G A 6: 91,965,926 (GRCm39) V562M possibly damaging Het
Flnc G A 6: 29,438,665 (GRCm39) W186* probably null Het
Frem2 A G 3: 53,479,844 (GRCm39) C1950R probably damaging Het
Fryl T C 5: 73,198,707 (GRCm39) D2640G possibly damaging Het
Ganab T C 19: 8,886,832 (GRCm39) V306A probably damaging Het
Gbx2 A T 1: 89,858,359 (GRCm39) V40D probably damaging Het
Gcc2 C A 10: 58,105,502 (GRCm39) T210K probably benign Het
Gcn1 T A 5: 115,750,789 (GRCm39) M1991K probably damaging Het
Gpr18 T A 14: 122,150,017 (GRCm39) T3S probably benign Het
Herc2 A C 7: 55,787,019 (GRCm39) K1621N possibly damaging Het
Hspg2 A G 4: 137,249,354 (GRCm39) E1300G probably damaging Het
Krtap19-5 C T 16: 88,693,231 (GRCm39) C27Y unknown Het
Lrrc3b A T 14: 15,358,076 (GRCm38) L177M probably damaging Het
Mthfd1 T C 12: 76,327,266 (GRCm39) I118T probably benign Het
Ncoa4-ps A G 12: 119,226,573 (GRCm39) noncoding transcript Het
Nphp4 A G 4: 152,641,500 (GRCm39) K1094E possibly damaging Het
Npy1r C T 8: 67,156,711 (GRCm39) L44F possibly damaging Het
Or10aa1 C A 1: 173,870,087 (GRCm39) S190R probably benign Het
Pcx C A 19: 4,654,571 (GRCm39) R328S probably damaging Het
Pde6a T C 18: 61,395,505 (GRCm39) Y583H probably damaging Het
Pip5k1b T A 19: 24,356,311 (GRCm39) Y209F probably damaging Het
Plch2 A T 4: 155,068,766 (GRCm39) S1182T probably damaging Het
Pum1 A T 4: 130,493,322 (GRCm39) I696F probably damaging Het
Pxdn T C 12: 30,034,905 (GRCm39) V254A probably damaging Het
Rcsd1 C T 1: 165,486,998 (GRCm39) A72T probably benign Het
Rsph4a A T 10: 33,787,595 (GRCm39) I584L probably benign Het
Scamp5 A G 9: 57,352,722 (GRCm39) V149A probably benign Het
Sike1 A G 3: 102,904,694 (GRCm39) H134R possibly damaging Het
Slc12a9 A G 5: 137,330,474 (GRCm39) L77P probably damaging Het
Spmap2l T C 5: 77,207,214 (GRCm39) I324T probably damaging Het
Taar7f G A 10: 23,925,417 (GRCm39) A4T probably benign Het
Tmem216 T A 19: 10,529,237 (GRCm39) T104S probably damaging Het
Tpsg1 C T 17: 25,593,016 (GRCm39) R94C probably damaging Het
Utp20 A T 10: 88,661,365 (GRCm39) probably null Het
Wdr35 A G 12: 9,028,628 (GRCm39) Q82R probably benign Het
Zfp12 A G 5: 143,231,248 (GRCm39) Y525C probably damaging Het
Zfp532 T C 18: 65,757,783 (GRCm39) V572A probably damaging Het
Zfyve26 T A 12: 79,321,814 (GRCm39) Q935L probably damaging Het
Other mutations in Cep170
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00773:Cep170 APN 1 176,582,965 (GRCm39) missense probably damaging 1.00
IGL00925:Cep170 APN 1 176,621,090 (GRCm39) missense probably damaging 1.00
IGL00972:Cep170 APN 1 176,563,262 (GRCm39) missense probably benign 0.00
IGL01488:Cep170 APN 1 176,583,941 (GRCm39) missense probably benign 0.00
IGL01916:Cep170 APN 1 176,567,476 (GRCm39) splice site probably benign
IGL02212:Cep170 APN 1 176,563,502 (GRCm39) missense probably damaging 0.99
IGL02269:Cep170 APN 1 176,596,932 (GRCm39) missense probably benign
IGL02732:Cep170 APN 1 176,564,440 (GRCm39) missense probably damaging 1.00
IGL02740:Cep170 APN 1 176,621,166 (GRCm39) missense probably damaging 1.00
IGL02812:Cep170 APN 1 176,570,080 (GRCm39) missense probably damaging 1.00
IGL03036:Cep170 APN 1 176,596,903 (GRCm39) missense possibly damaging 0.87
IGL03201:Cep170 APN 1 176,564,454 (GRCm39) missense probably damaging 1.00
IGL03333:Cep170 APN 1 176,597,092 (GRCm39) missense possibly damaging 0.64
BB003:Cep170 UTSW 1 176,588,979 (GRCm39) missense probably damaging 0.97
BB013:Cep170 UTSW 1 176,588,979 (GRCm39) missense probably damaging 0.97
PIT4520001:Cep170 UTSW 1 176,607,765 (GRCm39) missense unknown
R0031:Cep170 UTSW 1 176,583,657 (GRCm39) missense probably damaging 1.00
R0039:Cep170 UTSW 1 176,610,061 (GRCm39) critical splice donor site probably null
R0053:Cep170 UTSW 1 176,609,946 (GRCm39) missense possibly damaging 0.82
R0053:Cep170 UTSW 1 176,609,946 (GRCm39) missense possibly damaging 0.82
R0113:Cep170 UTSW 1 176,586,021 (GRCm39) missense probably damaging 0.97
R0144:Cep170 UTSW 1 176,620,161 (GRCm39) missense probably benign 0.01
R0613:Cep170 UTSW 1 176,602,246 (GRCm39) missense probably benign
R0755:Cep170 UTSW 1 176,583,319 (GRCm39) missense probably damaging 1.00
R1132:Cep170 UTSW 1 176,577,603 (GRCm39) missense probably damaging 1.00
R1367:Cep170 UTSW 1 176,563,290 (GRCm39) missense probably damaging 0.99
R1399:Cep170 UTSW 1 176,585,969 (GRCm39) missense probably damaging 0.98
R1462:Cep170 UTSW 1 176,584,211 (GRCm39) missense possibly damaging 0.46
R1462:Cep170 UTSW 1 176,584,211 (GRCm39) missense possibly damaging 0.46
R1481:Cep170 UTSW 1 176,609,951 (GRCm39) missense possibly damaging 0.56
R1526:Cep170 UTSW 1 176,616,071 (GRCm39) missense probably damaging 1.00
R1540:Cep170 UTSW 1 176,567,498 (GRCm39) missense probably damaging 1.00
R1552:Cep170 UTSW 1 176,610,060 (GRCm39) splice site probably benign
R1570:Cep170 UTSW 1 176,583,367 (GRCm39) missense possibly damaging 0.64
R1846:Cep170 UTSW 1 176,583,335 (GRCm39) missense probably damaging 1.00
R1884:Cep170 UTSW 1 176,602,245 (GRCm39) missense probably benign 0.12
R1945:Cep170 UTSW 1 176,621,100 (GRCm39) nonsense probably null
R1954:Cep170 UTSW 1 176,583,950 (GRCm39) missense probably benign
R1957:Cep170 UTSW 1 176,597,013 (GRCm39) missense probably benign 0.24
R2184:Cep170 UTSW 1 176,584,542 (GRCm39) missense probably benign 0.00
R2426:Cep170 UTSW 1 176,602,201 (GRCm39) missense probably benign
R3415:Cep170 UTSW 1 176,583,610 (GRCm39) missense probably damaging 1.00
R3417:Cep170 UTSW 1 176,583,610 (GRCm39) missense probably damaging 1.00
R3752:Cep170 UTSW 1 176,610,061 (GRCm39) critical splice donor site probably benign
R3848:Cep170 UTSW 1 176,583,409 (GRCm39) missense probably benign 0.14
R3849:Cep170 UTSW 1 176,583,409 (GRCm39) missense probably benign 0.14
R4752:Cep170 UTSW 1 176,584,254 (GRCm39) missense probably benign 0.00
R4910:Cep170 UTSW 1 176,609,829 (GRCm39) missense possibly damaging 0.94
R5007:Cep170 UTSW 1 176,597,380 (GRCm39) missense probably benign 0.28
R5052:Cep170 UTSW 1 176,621,117 (GRCm39) missense probably damaging 1.00
R5093:Cep170 UTSW 1 176,596,896 (GRCm39) missense possibly damaging 0.95
R5530:Cep170 UTSW 1 176,597,076 (GRCm39) missense probably benign 0.00
R5622:Cep170 UTSW 1 176,563,433 (GRCm39) missense possibly damaging 0.64
R5892:Cep170 UTSW 1 176,582,953 (GRCm39) splice site probably null
R5942:Cep170 UTSW 1 176,583,985 (GRCm39) missense probably damaging 1.00
R6083:Cep170 UTSW 1 176,602,191 (GRCm39) missense probably damaging 1.00
R6091:Cep170 UTSW 1 176,583,397 (GRCm39) missense probably damaging 0.98
R6190:Cep170 UTSW 1 176,609,975 (GRCm39) missense probably damaging 1.00
R6253:Cep170 UTSW 1 176,607,960 (GRCm39) missense possibly damaging 0.71
R6476:Cep170 UTSW 1 176,607,917 (GRCm39) missense possibly damaging 0.72
R6622:Cep170 UTSW 1 176,583,898 (GRCm39) missense probably damaging 1.00
R6932:Cep170 UTSW 1 176,589,003 (GRCm39) missense possibly damaging 0.90
R7030:Cep170 UTSW 1 176,584,051 (GRCm39) missense probably damaging 0.99
R7163:Cep170 UTSW 1 176,602,031 (GRCm39) missense probably damaging 1.00
R7352:Cep170 UTSW 1 176,597,423 (GRCm39) missense probably benign 0.11
R7499:Cep170 UTSW 1 176,602,028 (GRCm39) missense probably damaging 1.00
R7502:Cep170 UTSW 1 176,583,595 (GRCm39) missense probably damaging 1.00
R7773:Cep170 UTSW 1 176,567,642 (GRCm39) missense
R7926:Cep170 UTSW 1 176,588,979 (GRCm39) missense probably damaging 0.97
R8043:Cep170 UTSW 1 176,596,808 (GRCm39) missense probably damaging 0.96
R8203:Cep170 UTSW 1 176,596,877 (GRCm39) missense probably benign 0.28
R8350:Cep170 UTSW 1 176,564,445 (GRCm39) missense
R8450:Cep170 UTSW 1 176,564,445 (GRCm39) missense
R8835:Cep170 UTSW 1 176,584,429 (GRCm39) missense probably benign 0.00
R8931:Cep170 UTSW 1 176,597,377 (GRCm39) missense probably benign 0.02
R9108:Cep170 UTSW 1 176,616,051 (GRCm39) nonsense probably null
R9323:Cep170 UTSW 1 176,586,068 (GRCm39) missense probably benign
R9586:Cep170 UTSW 1 176,563,463 (GRCm39) missense possibly damaging 0.88
R9629:Cep170 UTSW 1 176,583,821 (GRCm39) missense possibly damaging 0.76
Predicted Primers PCR Primer
(F):5'- AGAAATCTGGACATAAACAGTGCTG -3'
(R):5'- ATTTGATGACAGTACGCCAGG -3'

Sequencing Primer
(F):5'- ACAGTGCTGTTTGCTCTTGAGC -3'
(R):5'- TTTGATGACAGTACGCCAGGAAAAG -3'
Posted On 2014-10-16