Incidental Mutation 'R6253:Cep170'
ID 506306
Institutional Source Beutler Lab
Gene Symbol Cep170
Ensembl Gene ENSMUSG00000057335
Gene Name centrosomal protein 170
Synonyms A330004A13Rik, 4933426L22Rik
MMRRC Submission 044370-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.728) question?
Stock # R6253 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 176561219-176641633 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 176607960 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 165 (D165E)
Ref Sequence ENSEMBL: ENSMUSP00000141793 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057037] [ENSMUST00000192961] [ENSMUST00000194727] [ENSMUST00000195433] [ENSMUST00000195717]
AlphaFold Q6A065
Predicted Effect probably benign
Transcript: ENSMUST00000057037
AA Change: D165E

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000059562
Gene: ENSMUSG00000057335
AA Change: D165E

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 possibly damaging
Transcript: ENSMUST00000192961
AA Change: D165E

PolyPhen 2 Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000142271
Gene: ENSMUSG00000057335
AA Change: D165E

DomainStartEndE-ValueType
FHA 22 73 1.27e-7 SMART
low complexity region 118 133 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193098
Predicted Effect probably benign
Transcript: ENSMUST00000194371
Predicted Effect possibly damaging
Transcript: ENSMUST00000194727
AA Change: D165E

PolyPhen 2 Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000141793
Gene: ENSMUSG00000057335
AA Change: D165E

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: D165E

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000141769
Gene: ENSMUSG00000057335
AA Change: D165E

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: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.1%
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
4921504E06Rik A G 2: 19,528,929 (GRCm39) Y151H possibly damaging Het
Aasdh A G 5: 77,034,105 (GRCm39) I482T possibly damaging Het
Abca3 G A 17: 24,616,526 (GRCm39) M989I probably benign Het
Acvr2b C T 9: 119,257,627 (GRCm39) P220L probably damaging Het
Aqr T C 2: 113,986,758 (GRCm39) D204G possibly damaging Het
Arpp19 G T 9: 74,964,016 (GRCm39) D123Y probably damaging Het
Bod1l A G 5: 41,983,881 (GRCm39) I554T probably damaging Het
Bpifa5 A G 2: 154,005,420 (GRCm39) M1V probably null Het
Cdh3 T A 8: 107,263,695 (GRCm39) probably null Het
Cfap46 CCTTCTTCT CCTTCT 7: 139,218,816 (GRCm39) probably benign Het
Cog3 A G 14: 75,957,152 (GRCm39) L627P probably damaging Het
Col23a1 C T 11: 51,464,995 (GRCm39) L453F probably damaging Het
Cyp2a22 T A 7: 26,633,657 (GRCm39) Q351L probably benign Het
Ddx4 T G 13: 112,772,557 (GRCm39) K77N probably benign Het
Ddx4 C A 13: 112,772,556 (GRCm39) E78* probably null Het
Decr1 A T 4: 15,931,179 (GRCm39) N92K probably benign Het
Dnm2 T C 9: 21,411,571 (GRCm39) L600P probably damaging Het
Ece2 A C 16: 20,457,932 (GRCm39) N356H probably damaging Het
Ern1 A T 11: 106,317,734 (GRCm39) I130N possibly damaging Het
Fat2 G A 11: 55,187,097 (GRCm39) R1250C probably damaging Het
Fat4 T A 3: 39,005,505 (GRCm39) V1968D probably damaging Het
Frmd6 A G 12: 70,923,987 (GRCm39) K82E probably damaging Het
Gm5431 A G 11: 48,785,826 (GRCm39) V183A probably benign Het
Golgb1 T C 16: 36,735,984 (GRCm39) S1744P possibly damaging Het
Hnrnpa3 C G 2: 75,492,914 (GRCm39) Q213E possibly damaging Het
Hspa1a A G 17: 35,189,526 (GRCm39) F459S probably damaging Het
Ice1 A G 13: 70,751,283 (GRCm39) L1601P probably damaging Het
Igkv19-93 T A 6: 68,713,323 (GRCm39) D102V probably damaging Het
Kansl1 G A 11: 104,248,352 (GRCm39) T534I probably benign Het
Lpin2 T A 17: 71,538,264 (GRCm39) S303R probably damaging Het
Lrpprc T A 17: 85,048,065 (GRCm39) I845F probably benign Het
Mdn1 A G 4: 32,749,593 (GRCm39) T4259A probably benign Het
Mtcl2 T C 2: 156,863,339 (GRCm39) S1197G probably benign Het
Mtss1 A G 15: 58,815,568 (GRCm39) I664T probably benign Het
Myh8 A G 11: 67,192,793 (GRCm39) E1528G probably benign Het
Myo5c A T 9: 75,152,319 (GRCm39) E69V probably damaging Het
Myom3 A T 4: 135,513,203 (GRCm39) D627V probably benign Het
Myom3 A G 4: 135,528,314 (GRCm39) N1053S probably benign Het
Or10a4 G A 7: 106,697,464 (GRCm39) R264H possibly damaging Het
Or2d2b A T 7: 106,705,145 (GRCm39) S308T probably benign Het
Or6z3 T C 7: 6,463,547 (GRCm39) V13A probably benign Het
Phactr1 T A 13: 43,248,247 (GRCm39) S399T probably benign Het
Plch2 T A 4: 155,091,558 (GRCm39) Y84F probably damaging Het
Ppp1r13b A G 12: 111,802,160 (GRCm39) S278P probably benign Het
Prol1 A G 5: 88,475,736 (GRCm39) Y42C probably damaging Het
Pum2 A G 12: 8,798,205 (GRCm39) E906G probably damaging Het
Pwwp3a T A 10: 80,068,848 (GRCm39) C331S probably benign Het
Rbp2 G T 9: 98,372,700 (GRCm39) S13I probably benign Het
Rbp4 G A 19: 38,113,428 (GRCm39) T30M probably benign Het
Selenbp1 T C 3: 94,851,157 (GRCm39) L351P possibly damaging Het
Serpinb6b T C 13: 33,156,255 (GRCm39) F115S probably damaging Het
Tigd3 A T 19: 5,942,870 (GRCm39) Y87N probably damaging Het
Tigd5 T A 15: 75,782,871 (GRCm39) L411H probably damaging Het
Ttc3 T C 16: 94,258,272 (GRCm39) probably null Het
Uhmk1 T C 1: 170,027,449 (GRCm39) Q416R probably damaging Het
Zfand4 T C 6: 116,250,575 (GRCm39) F2L probably damaging Het
Zfhx3 C T 8: 109,682,020 (GRCm39) T3153M possibly damaging Het
Zfp697 T G 3: 98,334,855 (GRCm39) C207G possibly damaging Het
Zfp935 T C 13: 62,602,685 (GRCm39) T172A probably benign Het
Znrf3 G T 11: 5,230,865 (GRCm39) L883I 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
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
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'- GAATTTGATGCCACAGCCAC -3'
(R):5'- TCAGTTATGTATCAGAGAGGGCTC -3'

Sequencing Primer
(F):5'- GCCACAGCCACTGAGGTATTTTTAC -3'
(R):5'- TGTCACACGTAGCAAGTTGC -3'
Posted On 2018-03-15