Incidental Mutation 'R8043:Cep170'
ID 618607
Institutional Source Beutler Lab
Gene Symbol Cep170
Ensembl Gene ENSMUSG00000057335
Gene Name centrosomal protein 170
Synonyms A330004A13Rik, 4933426L22Rik
MMRRC Submission 067480-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.728) question?
Stock # R8043 (G1)
Quality Score 188.009
Status Validated
Chromosome 1
Chromosomal Location 176561219-176641633 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 176596808 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 516 (M516I)
Ref Sequence ENSEMBL: ENSMUSP00000141793 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057037] [ENSMUST00000194727] [ENSMUST00000195433] [ENSMUST00000195717]
AlphaFold Q6A065
Predicted Effect probably damaging
Transcript: ENSMUST00000057037
AA Change: M516I

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000059562
Gene: ENSMUSG00000057335
AA Change: M516I

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 probably damaging
Transcript: ENSMUST00000194727
AA Change: M516I

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000141793
Gene: ENSMUSG00000057335
AA Change: M516I

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: ENSMUST00000195433
SMART Domains Protein: ENSMUSP00000142108
Gene: ENSMUSG00000057335

DomainStartEndE-ValueType
FHA 22 73 6.1e-10 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000195717
AA Change: M516I

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000141769
Gene: ENSMUSG00000057335
AA Change: M516I

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 98% (50/51)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb9 T C 5: 124,211,665 (GRCm39) Y628C probably damaging Het
Alpk2 C T 18: 65,482,901 (GRCm39) C369Y probably damaging Het
Atl1 T C 12: 70,005,989 (GRCm39) Y432H probably damaging Het
Cacnb4 C T 2: 52,355,663 (GRCm39) V215M probably damaging Het
Cep83 A C 10: 94,573,804 (GRCm39) N231T probably damaging Het
Cfap44 G A 16: 44,234,054 (GRCm39) G338D probably benign Het
Col6a6 A T 9: 105,576,219 (GRCm39) V2047E probably damaging Het
Coro1c C T 5: 114,003,820 (GRCm39) silent Het
Cplx4 A T 18: 66,090,190 (GRCm39) probably null Het
Csf1r G C 18: 61,257,947 (GRCm39) G639R probably damaging Het
Epha5 A G 5: 84,381,513 (GRCm39) V446A probably benign Het
Esam T C 9: 37,448,317 (GRCm39) V252A probably damaging Het
F13b T G 1: 139,450,186 (GRCm39) M616R probably benign Het
Fbxw21 T C 9: 108,975,694 (GRCm39) Y234C probably benign Het
Fshr C T 17: 89,293,818 (GRCm39) E287K probably benign Het
Fstl4 T C 11: 52,891,050 (GRCm39) S63P probably benign Het
Glra1 G A 11: 55,424,688 (GRCm39) P174L probably damaging Het
Golga7 A T 8: 23,746,731 (GRCm39) C24S possibly damaging Het
Gpr3 G A 4: 132,938,271 (GRCm39) R134C probably damaging Het
Greb1 T C 12: 16,761,790 (GRCm39) E530G probably damaging Het
Hmgcs2 C T 3: 98,198,444 (GRCm39) R116C probably damaging Het
Kcnj9 C A 1: 172,153,623 (GRCm39) R167L probably damaging Het
Kcnq5 T A 1: 21,549,644 (GRCm39) Q361L probably damaging Het
Lrrc40 T C 3: 157,769,397 (GRCm39) S532P possibly damaging Het
Mob3a A T 10: 80,525,846 (GRCm39) I155N probably damaging Het
Mpi A T 9: 57,457,881 (GRCm39) L107Q probably damaging Het
Npffr2 G A 5: 89,730,513 (GRCm39) V148I probably benign Het
Nrp1 G T 8: 129,158,504 (GRCm39) V264L probably benign Het
Oas1a T C 5: 121,035,080 (GRCm39) E360G probably benign Het
Or4k15c A T 14: 50,321,367 (GRCm39) I257N possibly damaging Het
Or52e8 A T 7: 104,625,080 (GRCm39) Y41* probably null Het
Or5b96 A C 19: 12,867,095 (GRCm39) V282G probably damaging Het
Pcdha2 A G 18: 37,072,579 (GRCm39) D70G probably benign Het
Pcsk2 A T 2: 143,655,450 (GRCm39) K545* probably null Het
Phf11b T C 14: 59,568,722 (GRCm39) S64G probably benign Het
Pira1 C G 7: 3,740,319 (GRCm39) A301P probably damaging Het
Pygo2 T C 3: 89,340,235 (GRCm39) L211P possibly damaging Het
Rbbp6 C T 7: 122,584,468 (GRCm39) T161I probably damaging Het
Rcsd1 A T 1: 165,482,911 (GRCm39) I390N probably benign Het
Rpl21 T C 5: 146,772,702 (GRCm39) V141A probably benign Het
Rufy3 C A 5: 88,790,851 (GRCm39) D517E probably benign Het
Ryr3 A T 2: 112,606,009 (GRCm39) L2417Q probably damaging Het
Ryr3 C T 2: 112,705,422 (GRCm39) E831K probably damaging Het
Sipa1l1 A C 12: 82,496,700 (GRCm39) Q1744P probably damaging Het
Sirt6 A G 10: 81,458,240 (GRCm39) probably null Het
Slain1 C A 14: 103,925,782 (GRCm39) Q377K possibly damaging Het
Slc30a6 T G 17: 74,730,018 (GRCm39) S303A probably damaging Het
Sorcs3 T A 19: 48,752,734 (GRCm39) L843Q possibly damaging Het
Usp45 G A 4: 21,824,543 (GRCm39) A432T probably benign Het
Vmn1r91 T A 7: 19,835,218 (GRCm39) S46T possibly damaging Het
Ybx3 T C 6: 131,361,469 (GRCm39) N100S probably benign Het
Zfp747 A G 7: 126,973,225 (GRCm39) L315P probably benign Het
Zfp750 T C 11: 121,402,706 (GRCm39) T681A probably benign 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
R2280:Cep170 UTSW 1 176,602,071 (GRCm39) missense probably benign 0.17
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
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'- AAGGCCCAGGTAGTTTAAGTGTAG -3'
(R):5'- ATTAAGAAGTTCAGGGAGTCTTGG -3'

Sequencing Primer
(F):5'- CCCAGGTAGTTTAAGTGTAGAAGAC -3'
(R):5'- TTGGGCACAGACCAAGC -3'
Posted On 2020-01-23