Incidental Mutation 'R1846:Cep170'
ID 207697
Institutional Source Beutler Lab
Gene Symbol Cep170
Ensembl Gene ENSMUSG00000057335
Gene Name centrosomal protein 170
Synonyms A330004A13Rik, 4933426L22Rik
MMRRC Submission 039871-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.728) question?
Stock # R1846 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 176561219-176641633 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 176583335 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 1015 (D1015N)
Ref Sequence ENSEMBL: ENSMUSP00000141769 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057037] [ENSMUST00000192927] [ENSMUST00000194727] [ENSMUST00000195433] [ENSMUST00000195717]
AlphaFold Q6A065
Predicted Effect probably damaging
Transcript: ENSMUST00000057037
AA Change: D1015N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000059562
Gene: ENSMUSG00000057335
AA Change: D1015N

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: D250N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142032
Gene: ENSMUSG00000057335
AA Change: D250N

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 probably damaging
Transcript: ENSMUST00000194727
AA Change: D1015N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141793
Gene: ENSMUSG00000057335
AA Change: D1015N

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 noncoding transcript
Transcript: ENSMUST00000194984
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195121
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: D1015N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141769
Gene: ENSMUSG00000057335
AA Change: D1015N

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: ENSMUST00000195463
Meta Mutation Damage Score 0.0994 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.4%
  • 20x: 92.6%
Validation Efficiency 99% (75/76)
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
2900092C05Rik G A 7: 12,246,809 (GRCm39) R63Q probably benign Het
Adamts20 A T 15: 94,243,871 (GRCm39) C619S probably damaging Het
Alx1 T C 10: 102,861,165 (GRCm39) D121G possibly damaging Het
Anks3 A C 16: 4,771,748 (GRCm39) M215R probably benign Het
Anxa4 T A 6: 86,718,893 (GRCm39) probably null Het
Arhgef25 A G 10: 127,021,733 (GRCm39) V222A probably damaging Het
Bglap2 A G 3: 88,285,932 (GRCm39) probably benign Het
Cars2 A G 8: 11,564,674 (GRCm39) V22A probably benign Het
Ccdc198 G T 14: 49,473,420 (GRCm39) L102I probably damaging Het
Cenpe T A 3: 134,945,606 (GRCm39) I1040N probably damaging Het
Chia1 T A 3: 106,038,181 (GRCm39) I359N probably damaging Het
Crot A T 5: 9,038,248 (GRCm39) V93E probably benign Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dnmbp T C 19: 43,891,186 (GRCm39) I194V probably damaging Het
Dock4 T A 12: 40,783,267 (GRCm39) C734S probably benign Het
Eif4e3 T C 6: 99,617,662 (GRCm39) S70G probably benign Het
Entpd3 G A 9: 120,387,441 (GRCm39) D213N probably benign Het
Ern2 T G 7: 121,775,759 (GRCm39) Y445S probably benign Het
Fasn A G 11: 120,704,133 (GRCm39) S1429P probably benign Het
Fat4 A G 3: 39,036,532 (GRCm39) I3395V probably benign Het
Fbln2 C A 6: 91,233,399 (GRCm39) Q628K possibly damaging Het
Fbxo28 T C 1: 182,153,845 (GRCm39) N164D probably benign Het
Fez1 T C 9: 36,779,063 (GRCm39) S247P probably damaging Het
Gars1 A G 6: 55,040,153 (GRCm39) D360G probably benign Het
Gcfc2 A T 6: 81,933,873 (GRCm39) Q710L probably damaging Het
Ggt5 A G 10: 75,446,376 (GRCm39) probably null Het
Glp1r A G 17: 31,148,909 (GRCm39) probably null Het
Hspa14 T C 2: 3,492,697 (GRCm39) D356G possibly damaging Het
Htt T A 5: 35,006,288 (GRCm39) I1399N probably damaging Het
Kmt2e G A 5: 23,704,484 (GRCm39) probably benign Het
Krt36 C A 11: 99,996,374 (GRCm39) G17C probably damaging Het
Lama2 T C 10: 27,088,092 (GRCm39) E895G probably damaging Het
Lamb2 G A 9: 108,364,586 (GRCm39) R1142H probably benign Het
Lhcgr C T 17: 89,072,575 (GRCm39) probably null Het
Lpin2 A G 17: 71,532,064 (GRCm39) T140A probably benign Het
Metap1 A G 3: 138,186,443 (GRCm39) probably benign Het
Mpeg1 T C 19: 12,440,486 (GRCm39) V648A probably benign Het
Mroh2a A G 1: 88,186,386 (GRCm39) S64G probably benign Het
Muc4 T A 16: 32,752,369 (GRCm38) I749N probably benign Het
N4bp2 T C 5: 65,965,862 (GRCm39) F1304L probably damaging Het
Nup85 A G 11: 115,459,239 (GRCm39) E114G probably benign Het
Or2a5 A G 6: 42,874,254 (GRCm39) S290G probably damaging Het
Or4c10 A G 2: 89,761,010 (GRCm39) T286A possibly damaging Het
Or6b2b A T 1: 92,418,822 (GRCm39) Y218* probably null Het
Pafah2 GCCCC GCCCCC 4: 134,152,852 (GRCm39) probably null Het
Parp2 T A 14: 51,052,843 (GRCm39) C145* probably null Het
Plpp6 T C 19: 28,941,680 (GRCm39) S94P probably benign Het
Polr1a T C 6: 71,953,172 (GRCm39) I1580T probably damaging Het
Polrmt A T 10: 79,574,043 (GRCm39) V860E probably damaging Het
Ppp1r17 A G 6: 55,999,412 (GRCm39) E15G possibly damaging Het
Prl7b1 A T 13: 27,786,831 (GRCm39) W133R probably damaging Het
Ptk7 A G 17: 46,887,416 (GRCm39) probably null Het
Rad23b C T 4: 55,383,637 (GRCm39) Q290* probably null Het
Rorb C T 19: 18,932,445 (GRCm39) E369K probably damaging Het
Rusc1 T C 3: 88,999,452 (GRCm39) D110G probably damaging Het
Smg7 A G 1: 152,724,601 (GRCm39) S527P probably damaging Het
Ssbp2 C T 13: 91,812,268 (GRCm39) P105L probably damaging Het
Stt3a C T 9: 36,674,681 (GRCm39) R34H probably damaging Het
Sufu T A 19: 46,439,386 (GRCm39) I202N possibly damaging Het
Thsd7b G A 1: 129,540,993 (GRCm39) R289Q probably damaging Het
Tph1 A T 7: 46,309,863 (GRCm39) S130T probably damaging Het
Ttn A G 2: 76,776,030 (GRCm39) S1671P probably damaging Het
Usp4 A G 9: 108,249,935 (GRCm39) I441V probably benign Het
Vmn1r8 A G 6: 57,013,413 (GRCm39) N155D probably benign Het
Vmn2r115 A C 17: 23,578,357 (GRCm39) K610T probably damaging Het
Vmn2r62 G A 7: 42,438,546 (GRCm39) P97S probably damaging Het
Zbtb40 T C 4: 136,735,150 (GRCm39) D297G probably benign Het
Zfp174 C A 16: 3,672,599 (GRCm39) Q383K probably benign Het
Zfp318 T A 17: 46,724,592 (GRCm39) D2198E probably benign Het
Zfp628 C T 7: 4,923,866 (GRCm39) P696L possibly damaging Het
Zgrf1 T A 3: 127,409,112 (GRCm39) N1695K 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
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
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'- TTGCTTGTTGAACCAGAGGC -3'
(R):5'- CGCAAAAGCGGAAGAGTTTC -3'

Sequencing Primer
(F):5'- CTTGTTGAACCAGAGGCAACAG -3'
(R):5'- AGCGGAAGAGTTTCACTAGTCTC -3'
Posted On 2014-06-23