Incidental Mutation 'PIT4520001:Cep170'
ID 555154
Institutional Source Beutler Lab
Gene Symbol Cep170
Ensembl Gene ENSMUSG00000057335
Gene Name centrosomal protein 170
Synonyms A330004A13Rik, 4933426L22Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.728) question?
Stock # PIT4520001 (G1)
Quality Score 195.009
Status Not validated
Chromosome 1
Chromosomal Location 176561219-176641633 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 176607765 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 230 (N230K)
Ref Sequence ENSEMBL: ENSMUSP00000142271 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057037] [ENSMUST00000192961] [ENSMUST00000194727] [ENSMUST00000195433] [ENSMUST00000195717]
AlphaFold Q6A065
Predicted Effect probably benign
Transcript: ENSMUST00000057037
SMART Domains Protein: ENSMUSP00000059562
Gene: ENSMUSG00000057335

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 unknown
Transcript: ENSMUST00000192961
AA Change: N230K
SMART Domains Protein: ENSMUSP00000142271
Gene: ENSMUSG00000057335
AA Change: N230K

DomainStartEndE-ValueType
FHA 22 73 1.27e-7 SMART
low complexity region 118 133 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000194371
Predicted Effect probably benign
Transcript: ENSMUST00000194727
SMART Domains Protein: ENSMUSP00000141793
Gene: ENSMUSG00000057335

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 benign
Transcript: ENSMUST00000195717
SMART Domains Protein: ENSMUSP00000141769
Gene: ENSMUSG00000057335

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: 93.5%
  • 3x: 91.1%
  • 10x: 86.1%
  • 20x: 75.5%
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy1 A G 11: 7,117,133 (GRCm39) N1000S probably damaging Het
Adgrb1 A G 15: 74,413,508 (GRCm39) D564G probably damaging Het
Ankmy2 A G 12: 36,207,390 (GRCm39) E12G probably benign Het
Arid1a C T 4: 133,409,227 (GRCm39) S1375N unknown Het
Atp1a2 G A 1: 172,106,941 (GRCm39) A793V probably benign Het
Atp8b1 T C 18: 64,701,251 (GRCm39) Y369C probably benign Het
Catsperg2 A G 7: 29,409,586 (GRCm39) Y536H possibly damaging Het
Ccdc178 A G 18: 22,200,470 (GRCm39) Y445H probably damaging Het
Cftr A G 6: 18,277,842 (GRCm39) I977V probably benign Het
Chek2 A G 5: 111,011,195 (GRCm39) Y331C probably damaging Het
Chst13 A T 6: 90,286,167 (GRCm39) I265K probably benign Het
Coil T C 11: 88,872,437 (GRCm39) M266T probably benign Het
Col16a1 T A 4: 129,945,456 (GRCm39) C28S unknown Het
Col3a1 T C 1: 45,374,943 (GRCm39) probably null Het
Csmd1 C T 8: 15,956,023 (GRCm39) V3395M probably benign Het
Cyp51 A G 5: 4,151,200 (GRCm39) V143A probably damaging Het
Eif2ak1 C T 5: 143,836,027 (GRCm39) Q573* probably null Het
Eif2ak4 T A 2: 118,292,808 (GRCm39) I1344N probably damaging Het
Fhip1a G A 3: 85,579,779 (GRCm39) Q809* probably null Het
Gen1 A G 12: 11,291,509 (GRCm39) V825A probably benign Het
Gm28042 A T 2: 119,870,148 (GRCm39) K696* probably null Het
Gm4952 A G 19: 12,602,048 (GRCm39) Y152C probably benign Het
Hdac3 G A 18: 38,074,817 (GRCm39) T308I probably damaging Het
Hpx T C 7: 105,241,341 (GRCm39) T357A probably benign Het
Hscb A T 5: 110,983,851 (GRCm39) Y139N probably damaging Het
Kcnk9 T A 15: 72,384,332 (GRCm39) H282L probably benign Het
Kdm2b G A 5: 123,079,110 (GRCm39) T287M probably damaging Het
Kif19a C T 11: 114,672,034 (GRCm39) T207M probably damaging Het
Kmt2c A C 5: 25,520,664 (GRCm39) N1815K probably benign Het
Ktn1 C T 14: 47,923,774 (GRCm39) T511M probably damaging Het
Lrp1 C G 10: 127,443,843 (GRCm39) Q141H possibly damaging Het
Lrrc43 T C 5: 123,630,530 (GRCm39) V131A possibly damaging Het
Man1b1 T A 2: 25,233,282 (GRCm39) H218Q probably damaging Het
Mapk8ip2 T A 15: 89,344,900 (GRCm39) C766S probably damaging Het
Mfn1 A G 3: 32,615,695 (GRCm39) N353D probably benign Het
Mtcl1 A T 17: 66,692,907 (GRCm39) L474Q possibly damaging Het
Mtr T A 13: 12,212,871 (GRCm39) R915* probably null Het
Myh6 C A 14: 55,187,581 (GRCm39) V1263L probably benign Het
Nt5m C A 11: 59,765,415 (GRCm39) L148M probably benign Het
Or4a67 A G 2: 88,597,921 (GRCm39) V246A possibly damaging Het
Or51t4 A T 7: 102,597,921 (GRCm39) D83V probably damaging Het
Or8k21 T C 2: 86,145,142 (GRCm39) I163V possibly damaging Het
Pbrm1 T A 14: 30,789,818 (GRCm39) F811I probably damaging Het
Pcnt A G 10: 76,256,069 (GRCm39) S724P probably damaging Het
Pfdn5 C A 15: 102,237,158 (GRCm39) D98E probably benign Het
Ptprs G A 17: 56,721,980 (GRCm39) P1715S probably damaging Het
Rtkn2 T A 10: 67,823,291 (GRCm39) L65Q probably damaging Het
Scn2a G A 2: 65,518,763 (GRCm39) R379H probably damaging Het
Scn5a G T 9: 119,363,636 (GRCm39) D501E possibly damaging Het
Spn C A 7: 126,735,611 (GRCm39) G299W probably damaging Het
St6galnac1 T C 11: 116,660,175 (GRCm39) N46S probably benign Het
Stx19 A G 16: 62,642,871 (GRCm39) D229G probably benign Het
Tmc6 A T 11: 117,663,556 (GRCm39) M552K possibly damaging Het
Tnpo3 G C 6: 29,555,221 (GRCm39) D787E possibly damaging Het
Tyw5 T C 1: 57,427,674 (GRCm39) Y310C probably damaging Het
Vmn2r15 A G 5: 109,434,871 (GRCm39) F611S probably damaging Het
Vmn2r49 C T 7: 9,722,988 (GRCm39) M95I probably benign Het
Wfdc8 A G 2: 164,445,223 (GRCm39) S131P probably benign Het
Zfp407 A T 18: 84,450,545 (GRCm39) M1597K 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
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
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'- CTGTTGAACTCTGAATCATACTGC -3'
(R):5'- ATTATATGGGCAGCCGTCC -3'

Sequencing Primer
(F):5'- ACTCTGAATCATACTGCAATCTTATC -3'
(R):5'- TCCTGGTGGGGAGACGC -3'
Posted On 2019-06-07