Incidental Mutation 'IGL03036:Cep170'
ID 408646
Institutional Source Australian Phenomics Network (link to record)
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 # IGL03036
Quality Score
Status
Chromosome 1
Chromosomal Location 176561219-176641633 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 176596903 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 485 (S485P)
Ref Sequence ENSEMBL: ENSMUSP00000141769 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057037] [ENSMUST00000194727] [ENSMUST00000195433] [ENSMUST00000195717]
AlphaFold Q6A065
Predicted Effect possibly damaging
Transcript: ENSMUST00000057037
AA Change: S485P

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000059562
Gene: ENSMUSG00000057335
AA Change: S485P

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 noncoding transcript
Transcript: ENSMUST00000193098
Predicted Effect probably benign
Transcript: ENSMUST00000194727
AA Change: S485P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000141793
Gene: ENSMUSG00000057335
AA Change: S485P

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 possibly damaging
Transcript: ENSMUST00000195717
AA Change: S485P

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000141769
Gene: ENSMUSG00000057335
AA Change: S485P

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
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd17a A T 10: 80,421,534 (GRCm39) Y145* probably null Het
Afdn T G 17: 14,108,350 (GRCm39) I1291S probably benign Het
Arfgap3 T G 15: 83,191,127 (GRCm39) I16L possibly damaging Het
Bbs12 T A 3: 37,373,343 (GRCm39) H45Q possibly damaging Het
Brpf3 T C 17: 29,043,022 (GRCm39) L1021P possibly damaging Het
Cgref1 A T 5: 31,090,937 (GRCm39) N292K probably damaging Het
Chst3 A T 10: 60,022,261 (GRCm39) Y195* probably null Het
Clmn T C 12: 104,740,782 (GRCm39) Y125C probably damaging Het
Col13a1 A G 10: 61,729,692 (GRCm39) probably null Het
Cpeb3 A T 19: 37,002,348 (GRCm39) I688N probably damaging Het
Cpn2 A T 16: 30,079,647 (GRCm39) L18H probably benign Het
Crybg3 T A 16: 59,375,542 (GRCm39) H1904L possibly damaging Het
Csde1 C T 3: 102,951,155 (GRCm39) P249S probably damaging Het
Dcaf1 T C 9: 106,721,339 (GRCm39) L377P probably damaging Het
Dmwd A T 7: 18,815,054 (GRCm39) K568M probably damaging Het
Dsg2 T C 18: 20,712,134 (GRCm39) I90T probably damaging Het
Dytn A G 1: 63,680,281 (GRCm39) I426T probably damaging Het
Edc4 G A 8: 106,613,943 (GRCm39) probably null Het
Elac1 G T 18: 73,871,985 (GRCm39) Q337K probably benign Het
Exd2 G T 12: 80,536,185 (GRCm39) A272S probably damaging Het
F13b A G 1: 139,435,853 (GRCm39) I220V possibly damaging Het
Fblim1 G T 4: 141,310,435 (GRCm39) R276S possibly damaging Het
Fn1 A C 1: 71,668,932 (GRCm39) L671R probably damaging Het
Frem1 A T 4: 82,877,576 (GRCm39) F1334I possibly damaging Het
H2-T23 T A 17: 36,343,249 (GRCm39) I43F possibly damaging Het
Hp1bp3 G A 4: 137,956,043 (GRCm39) G202D probably damaging Het
Kdm5b A G 1: 134,536,675 (GRCm39) M632V probably damaging Het
Klra5 T A 6: 129,885,830 (GRCm39) S20C probably damaging Het
Lancl1 A T 1: 67,046,074 (GRCm39) C276S probably damaging Het
Lect2 A G 13: 56,690,520 (GRCm39) *152Q probably null Het
Maff C A 15: 79,241,658 (GRCm39) S25* probably null Het
Mtr A G 13: 12,262,263 (GRCm39) L171P probably damaging Het
Ndufs1 A T 1: 63,202,855 (GRCm39) Y236* probably null Het
Neb A C 2: 52,134,165 (GRCm39) Y3273D probably damaging Het
Nup133 A T 8: 124,673,333 (GRCm39) I66K probably benign Het
Or4c110 T C 2: 88,832,459 (GRCm39) M58V possibly damaging Het
Psmd14 A G 2: 61,614,205 (GRCm39) Y200C probably damaging Het
Ptgds T C 2: 25,359,622 (GRCm39) T22A probably benign Het
Ptk2b T A 14: 66,411,344 (GRCm39) probably benign Het
Pum3 G A 19: 27,398,713 (GRCm39) T279M probably damaging Het
Rabl6 C T 2: 25,474,868 (GRCm39) G614D probably benign Het
Ripk3 T C 14: 56,024,796 (GRCm39) D128G probably benign Het
Serinc4 A T 2: 121,270,039 (GRCm39) probably benign Het
Slco1a8 T G 6: 141,954,333 (GRCm39) I47L possibly damaging Het
Sorbs2 T C 8: 46,235,902 (GRCm39) S322P probably benign Het
Spmap2l A C 5: 77,164,197 (GRCm39) K67Q possibly damaging Het
Srebf1 A T 11: 60,111,284 (GRCm39) I29N possibly damaging Het
Stk38l T C 6: 146,670,372 (GRCm39) L238S probably damaging Het
Supt20 T A 3: 54,616,723 (GRCm39) C298* probably null Het
Tbc1d19 A G 5: 54,054,389 (GRCm39) D459G probably damaging Het
Ulk2 A T 11: 61,725,660 (GRCm39) L139M probably damaging Het
Unc13b A G 4: 43,235,249 (GRCm39) N3279S probably damaging Het
Ush2a A G 1: 188,596,818 (GRCm39) R3853G possibly damaging Het
Usp7 C T 16: 8,556,078 (GRCm39) M24I probably benign Het
Vil1 A G 1: 74,458,771 (GRCm39) T131A probably damaging Het
Vmn2r2 C T 3: 64,024,321 (GRCm39) M753I probably benign Het
Vmn2r74 A T 7: 85,601,900 (GRCm39) Y579* probably null Het
Zdhhc3 A T 9: 122,929,582 (GRCm39) Y18N probably damaging Het
Zfp609 C T 9: 65,609,927 (GRCm39) S1012N possibly damaging Het
Zfr2 A T 10: 81,077,985 (GRCm39) M271L 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
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
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
Posted On 2016-08-02