Incidental Mutation 'R1957:Cep170'
ID 217868
Institutional Source Beutler Lab
Gene Symbol Cep170
Ensembl Gene ENSMUSG00000057335
Gene Name centrosomal protein 170
Synonyms A330004A13Rik, 4933426L22Rik
MMRRC Submission 039971-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.728) question?
Stock # R1957 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 176561219-176641633 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 176597013 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 448 (V448G)
Ref Sequence ENSEMBL: ENSMUSP00000141769 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057037] [ENSMUST00000194727] [ENSMUST00000195433] [ENSMUST00000195717]
AlphaFold Q6A065
Predicted Effect probably benign
Transcript: ENSMUST00000057037
AA Change: V448G

PolyPhen 2 Score 0.242 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000059562
Gene: ENSMUSG00000057335
AA Change: V448G

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: V448G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000141793
Gene: ENSMUSG00000057335
AA Change: V448G

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
AA Change: V448G

PolyPhen 2 Score 0.242 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000141769
Gene: ENSMUSG00000057335
AA Change: V448G

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
Meta Mutation Damage Score 0.0615 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.4%
Validation Efficiency 97% (117/121)
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: 114 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aaas C T 15: 102,247,068 (GRCm39) probably benign Het
Aadacl4fm5 G A 4: 144,504,389 (GRCm39) T254I possibly damaging Het
Abce1 A G 8: 80,412,578 (GRCm39) I583T probably benign Het
Abtb3 T C 10: 85,469,563 (GRCm39) L828P probably damaging Het
Adcy1 A T 11: 7,111,945 (GRCm39) T937S probably benign Het
Adgra2 A G 8: 27,601,196 (GRCm39) I279V possibly damaging Het
Adgrl4 A T 3: 151,216,416 (GRCm39) N533I possibly damaging Het
Adipor1 T C 1: 134,350,771 (GRCm39) S7P probably benign Het
Amelx A T X: 167,965,153 (GRCm39) probably null Het
Anks1b A T 10: 89,885,792 (GRCm39) T163S probably damaging Het
Apc A G 18: 34,450,388 (GRCm39) E2394G probably damaging Het
Arhgef39 C T 4: 43,499,309 (GRCm39) G56E probably damaging Het
Arnt C T 3: 95,355,704 (GRCm39) S16L possibly damaging Het
Arsj A G 3: 126,232,670 (GRCm39) N472S probably benign Het
Atg2b T C 12: 105,635,677 (GRCm39) Y197C probably damaging Het
B3gat1 A T 9: 26,667,248 (GRCm39) D160V possibly damaging Het
Bmp7 T C 2: 172,781,714 (GRCm39) E50G probably damaging Het
Bms1 T C 6: 118,369,939 (GRCm39) E869G probably damaging Het
Brd4 G A 17: 32,440,340 (GRCm39) P332L possibly damaging Het
C130074G19Rik T C 1: 184,615,095 (GRCm39) T32A probably benign Het
C1rl A T 6: 124,486,021 (GRCm39) Y464F probably damaging Het
Ccdc150 T A 1: 54,303,068 (GRCm39) M193K probably benign Het
Ccdc7a A G 8: 129,706,616 (GRCm39) S338P probably damaging Het
Cenpu T C 8: 47,025,872 (GRCm39) probably benign Het
Col27a1 G T 4: 63,196,031 (GRCm39) A879S probably benign Het
Crtac1 C T 19: 42,276,383 (GRCm39) S515N possibly damaging Het
Cstad G A 2: 30,498,293 (GRCm39) V43M unknown Het
Daam1 T C 12: 72,029,529 (GRCm39) probably null Het
Dnmt1 C T 9: 20,838,442 (GRCm39) R207H probably benign Het
Dsg3 A G 18: 20,655,162 (GRCm39) N153S probably damaging Het
Dzip3 C A 16: 48,747,956 (GRCm39) L1151F probably damaging Het
Eml5 A T 12: 98,826,220 (GRCm39) H644Q probably damaging Het
Emsy A G 7: 98,297,027 (GRCm39) L52P probably damaging Het
Eno1 T A 4: 150,331,232 (GRCm39) probably null Het
Epha3 T A 16: 63,593,315 (GRCm39) T258S probably benign Het
Ern1 T C 11: 106,317,723 (GRCm39) T134A probably damaging Het
Fam151b G T 13: 92,614,410 (GRCm39) T26K probably damaging Het
Fam151b T A 13: 92,614,411 (GRCm39) T26S probably damaging Het
Fat1 T C 8: 45,493,719 (GRCm39) V3955A probably damaging Het
Fbn1 T C 2: 125,209,574 (GRCm39) N930S possibly damaging Het
Fgr A G 4: 132,725,673 (GRCm39) M361V probably benign Het
Fmo4 G A 1: 162,631,259 (GRCm39) T236I probably benign Het
Fndc7 G A 3: 108,790,825 (GRCm39) T67I probably damaging Het
Fxr2 A G 11: 69,534,766 (GRCm39) T216A probably benign Het
Gdf10 G A 14: 33,654,710 (GRCm39) A406T probably benign Het
Gm42669 A T 5: 107,656,738 (GRCm39) E355D possibly damaging Het
Gm5174 A T 10: 86,492,617 (GRCm39) noncoding transcript Het
Gm5431 A T 11: 48,779,224 (GRCm39) L844* probably null Het
Gm6489 T C 1: 31,326,452 (GRCm39) noncoding transcript Het
Gna11 A G 10: 81,366,678 (GRCm39) V344A probably damaging Het
Gtpbp3 A G 8: 71,943,099 (GRCm39) E170G probably damaging Het
H2az1 A C 3: 137,571,275 (GRCm39) probably benign Het
Heatr1 A G 13: 12,411,419 (GRCm39) N87D probably damaging Het
Iars2 T C 1: 185,027,868 (GRCm39) K687E possibly damaging Het
Ica1 T C 6: 8,749,736 (GRCm39) D71G possibly damaging Het
Ifnlr1 T C 4: 135,413,881 (GRCm39) L10P probably damaging Het
Il1r1 T A 1: 40,352,300 (GRCm39) L490* probably null Het
Ip6k3 A T 17: 27,370,142 (GRCm39) L92Q probably benign Het
Itgbl1 T A 14: 124,204,090 (GRCm39) F394I probably damaging Het
Kat6b T C 14: 21,678,947 (GRCm39) Y437H probably damaging Het
Kcnh5 G C 12: 74,944,358 (GRCm39) Q964E probably benign Het
Krt27 A T 11: 99,237,309 (GRCm39) probably null Het
Mki67 A T 7: 135,300,128 (GRCm39) D1635E probably benign Het
Mmp23 G T 4: 155,736,509 (GRCm39) H177Q possibly damaging Het
Myef2l G T 3: 10,154,346 (GRCm39) V372F probably benign Het
Mylk2 C A 2: 152,759,527 (GRCm39) Q406K possibly damaging Het
Myo1g A G 11: 6,462,159 (GRCm39) probably null Het
Myrf T C 19: 10,197,160 (GRCm39) T261A probably benign Het
Nmt2 C T 2: 3,326,419 (GRCm39) P486L possibly damaging Het
Oard1 T A 17: 48,722,304 (GRCm39) L100* probably null Het
Oca2 T C 7: 55,971,246 (GRCm39) I391T possibly damaging Het
Or51v14 T A 7: 103,260,618 (GRCm39) *314L probably null Het
Or5k17 T A 16: 58,746,530 (GRCm39) M135L probably benign Het
Or5p64 A C 7: 107,854,403 (GRCm39) L314* probably null Het
Or6c68 A T 10: 129,157,740 (GRCm39) I83F possibly damaging Het
Or8b39 T A 9: 37,996,419 (GRCm39) C96S probably damaging Het
Or9k2b C A 10: 130,015,847 (GRCm39) A301S possibly damaging Het
Pabpc4 T A 4: 123,180,658 (GRCm39) S127T probably damaging Het
Pcdhb1 A G 18: 37,398,760 (GRCm39) D237G probably damaging Het
Pdcd6ip T C 9: 113,537,090 (GRCm39) Y29C probably damaging Het
Phf3 C A 1: 30,870,601 (GRCm39) R95L probably damaging Het
Pkd1l2 A T 8: 117,757,421 (GRCm39) V1539D probably damaging Het
Plxna1 A T 6: 89,308,273 (GRCm39) D1271E probably damaging Het
Ppp3r2 A G 4: 49,681,726 (GRCm39) F75L probably damaging Het
Pth2r C A 1: 65,411,514 (GRCm39) D350E probably damaging Het
Rabgap1 T C 2: 37,373,774 (GRCm39) F262S possibly damaging Het
Rbbp6 T C 7: 122,589,511 (GRCm39) S438P probably benign Het
Rexo1 G A 10: 80,379,200 (GRCm39) R1038C probably damaging Het
Rnf10 A G 5: 115,398,381 (GRCm39) probably benign Het
Scyl1 C A 19: 5,810,132 (GRCm39) A565S probably benign Het
Septin4 A G 11: 87,481,193 (GRCm39) T378A probably benign Het
Sh3yl1 A G 12: 30,992,787 (GRCm39) probably null Het
Slc1a7 G T 4: 107,825,782 (GRCm39) D14Y probably benign Het
Slc32a1 T C 2: 158,455,963 (GRCm39) V206A probably damaging Het
Smyd5 G A 6: 85,415,121 (GRCm39) R43Q probably benign Het
Snrnp200 G A 2: 127,058,095 (GRCm39) A286T possibly damaging Het
Sp110 A C 1: 85,505,050 (GRCm39) F434C probably benign Het
Srebf2 T A 15: 82,079,155 (GRCm39) H794Q probably benign Het
Ssbp2 T C 13: 91,812,303 (GRCm39) probably benign Het
Sspo G A 6: 48,455,207 (GRCm39) G3023D probably damaging Het
St6galnac5 T A 3: 152,552,120 (GRCm39) Q149L probably benign Het
Stab2 A G 10: 86,697,334 (GRCm39) Y1985H probably benign Het
Suz12 A G 11: 79,889,926 (GRCm39) M146V probably benign Het
Tac2 A G 10: 127,564,349 (GRCm39) probably null Het
Thbd T C 2: 148,248,899 (GRCm39) E323G probably damaging Het
Tnfrsf26 T A 7: 143,171,660 (GRCm39) T98S probably damaging Het
Trim15 T C 17: 37,173,215 (GRCm39) probably benign Het
Trpt1 T C 19: 6,975,561 (GRCm39) V105A possibly damaging Het
Vcam1 T C 3: 115,919,606 (GRCm39) Y226C probably damaging Het
Vmn1r175 A G 7: 23,507,808 (GRCm39) V273A probably benign Het
Vmn2r109 A G 17: 20,784,969 (GRCm39) V17A probably benign Het
Vmn2r84 G A 10: 130,226,677 (GRCm39) A387V probably benign Het
Wdfy4 A T 14: 32,693,641 (GRCm39) L2728Q probably damaging Het
Zfp934 T A 13: 62,666,108 (GRCm39) T178S possibly 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
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'- AGGTCCAAGAGTCAACAGCC -3'
(R):5'- AGGCATCTTATGTCAGGAAACTAC -3'

Sequencing Primer
(F):5'- CACTGTTGGGATTCTCTAACTCAATG -3'
(R):5'- TGTCAGGAAACTACTTTCTCAACAC -3'
Posted On 2014-08-01