Incidental Mutation 'IGL02212:Cep170'
ID 285530
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 # IGL02212
Quality Score
Status
Chromosome 1
Chromosomal Location 176561219-176641633 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 176563502 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 1504 (N1504I)
Ref Sequence ENSEMBL: ENSMUSP00000141793 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057037] [ENSMUST00000192927] [ENSMUST00000194727] [ENSMUST00000195717] [ENSMUST00000195433]
AlphaFold Q6A065
Predicted Effect probably damaging
Transcript: ENSMUST00000057037
AA Change: N1494I

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000059562
Gene: ENSMUSG00000057335
AA Change: N1494I

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 benign
Transcript: ENSMUST00000192664
Predicted Effect probably damaging
Transcript: ENSMUST00000192927
AA Change: N703I

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000142032
Gene: ENSMUSG00000057335
AA Change: N703I

DomainStartEndE-ValueType
low complexity region 5 17 N/A INTRINSIC
Pfam:CEP170_C 30 469 3.4e-129 PFAM
Pfam:CEP170_C 449 708 7.4e-102 PFAM
low complexity region 742 754 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000192991
AA Change: N261I
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193765
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194489
Predicted Effect probably damaging
Transcript: ENSMUST00000194727
AA Change: N1504I

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000141793
Gene: ENSMUSG00000057335
AA Change: N1504I

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 damaging
Transcript: ENSMUST00000195717
AA Change: N1494I

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000141769
Gene: ENSMUSG00000057335
AA Change: N1494I

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 noncoding transcript
Transcript: ENSMUST00000194984
Predicted Effect probably benign
Transcript: ENSMUST00000195433
SMART Domains Protein: ENSMUSP00000142108
Gene: ENSMUSG00000057335

DomainStartEndE-ValueType
FHA 22 73 6.1e-10 SMART
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 T A 2: 69,079,233 (GRCm39) D1079V probably damaging Het
Adam18 T C 8: 25,127,195 (GRCm39) H467R probably benign Het
Ambra1 T G 2: 91,747,706 (GRCm39) D1056E probably damaging Het
Aoah A C 13: 21,187,071 (GRCm39) N456T probably benign Het
Batf2 T A 19: 6,221,991 (GRCm39) F267Y probably damaging Het
Bbs7 C T 3: 36,648,558 (GRCm39) V397I probably benign Het
Bbs9 T A 9: 22,723,808 (GRCm39) D824E probably benign Het
Brd8 C T 18: 34,735,780 (GRCm39) S899N probably damaging Het
Brip1 A T 11: 86,029,841 (GRCm39) V601E possibly damaging Het
Bub1 A G 2: 127,647,271 (GRCm39) F773L probably damaging Het
Cadps A T 14: 12,522,345 (GRCm38) D606E possibly damaging Het
Cenps T G 4: 149,213,303 (GRCm39) D54A probably damaging Het
Cttnbp2 A G 6: 18,382,748 (GRCm39) V1340A possibly damaging Het
D630003M21Rik A T 2: 158,052,091 (GRCm39) S667T probably benign Het
Defa38 C T 8: 21,585,276 (GRCm39) probably benign Het
Dgkb A G 12: 38,189,413 (GRCm39) Y272C probably damaging Het
Dlx3 A G 11: 95,011,467 (GRCm39) D107G probably benign Het
Drd3 A T 16: 43,582,675 (GRCm39) N56I probably benign Het
Elavl4 T A 4: 110,063,609 (GRCm39) I331F probably damaging Het
Fam167a T G 14: 63,700,078 (GRCm39) S213A probably damaging Het
Fasn A T 11: 120,698,729 (GRCm39) I2489N probably damaging Het
Fbxo43 T C 15: 36,151,957 (GRCm39) K587E probably damaging Het
Fscn2 A G 11: 120,252,881 (GRCm39) D116G probably damaging Het
Galm T C 17: 80,457,546 (GRCm39) V194A probably benign Het
Gpr180 T A 14: 118,397,588 (GRCm39) F361I probably damaging Het
Gpx2 A T 12: 76,839,682 (GRCm39) C105* probably null Het
Gsdmc2 A T 15: 63,699,911 (GRCm39) probably benign Het
Hes2 T G 4: 152,244,982 (GRCm39) S150R probably damaging Het
Ighv1-56 C T 12: 115,206,417 (GRCm39) probably benign Het
Inhbb A T 1: 119,345,713 (GRCm39) V192D probably benign Het
Itgal A T 7: 126,900,152 (GRCm39) M137L probably benign Het
Jak2 A G 19: 29,265,382 (GRCm39) N470D probably benign Het
Jph1 T C 1: 17,161,981 (GRCm39) E227G probably damaging Het
Kcnj6 A T 16: 94,633,346 (GRCm39) I237N probably damaging Het
Kctd8 G T 5: 69,498,031 (GRCm39) P205Q probably benign Het
Klhdc1 A T 12: 69,297,540 (GRCm39) N37I probably damaging Het
Lrp2 T A 2: 69,281,608 (GRCm39) H3921L probably benign Het
Lrp8os2 T C 4: 107,664,245 (GRCm39) probably benign Het
Man2a2 A C 7: 80,012,056 (GRCm39) D700E probably benign Het
Mast1 A T 8: 85,648,026 (GRCm39) L485Q probably damaging Het
Mmp3 A G 9: 7,450,165 (GRCm39) D299G probably damaging Het
Mptx2 T A 1: 173,102,248 (GRCm39) D147V possibly damaging Het
Mrpl9 T A 3: 94,351,124 (GRCm39) probably null Het
Mup21 T G 4: 62,066,829 (GRCm39) E137A probably damaging Het
Mutyh T A 4: 116,672,803 (GRCm39) V52D probably damaging Het
Nalcn T A 14: 123,752,742 (GRCm39) S340C probably damaging Het
Neb A G 2: 52,198,323 (GRCm39) Y474H probably damaging Het
Nol8 A G 13: 49,815,626 (GRCm39) E560G possibly damaging Het
Ntn4 A G 10: 93,480,711 (GRCm39) D145G possibly damaging Het
Nup93 G A 8: 95,038,290 (GRCm39) probably null Het
Or1j17 A G 2: 36,578,194 (GRCm39) Y60C probably damaging Het
Or2n1b C A 17: 38,459,746 (GRCm39) T89K probably benign Het
Or2y14 A T 11: 49,404,737 (GRCm39) I91F probably damaging Het
Or52b2 C T 7: 104,986,350 (GRCm39) C191Y probably damaging Het
Pcdhb8 T A 18: 37,489,465 (GRCm39) V40E possibly damaging Het
Peg3 C T 7: 6,714,415 (GRCm39) R269H probably benign Het
Piwil1 T A 5: 128,827,334 (GRCm39) F648I possibly damaging Het
Psd4 A T 2: 24,295,326 (GRCm39) K827* probably null Het
Retsat T A 6: 72,578,693 (GRCm39) L135* probably null Het
Rtp3 A G 9: 110,816,389 (GRCm39) probably benign Het
Samd14 A G 11: 94,914,176 (GRCm39) Y305C probably damaging Het
Satb1 T A 17: 52,082,319 (GRCm39) Q445L possibly damaging Het
Shbg A G 11: 69,508,035 (GRCm39) L110P probably damaging Het
Slc17a6 T A 7: 51,317,218 (GRCm39) I413N possibly damaging Het
Slu7 A T 11: 43,331,469 (GRCm39) Q201L probably benign Het
Spg11 T C 2: 121,938,638 (GRCm39) T439A probably benign Het
Sstr5 A T 17: 25,710,647 (GRCm39) L194Q possibly damaging Het
Tjp2 A T 19: 24,116,150 (GRCm39) L13Q probably damaging Het
Tnk2 G A 16: 32,498,960 (GRCm39) V758I probably damaging Het
Ttll8 C A 15: 88,801,450 (GRCm39) V413L probably benign Het
Wiz T C 17: 32,587,109 (GRCm39) D67G 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
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
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 2015-04-16