Incidental Mutation 'R0613:Cep170'
ID 54861
Institutional Source Beutler Lab
Gene Symbol Cep170
Ensembl Gene ENSMUSG00000057335
Gene Name centrosomal protein 170
Synonyms A330004A13Rik, 4933426L22Rik
MMRRC Submission 038802-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.728) question?
Stock # R0613 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 176561219-176641633 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 176602246 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 287 (T287A)
Ref Sequence ENSEMBL: ENSMUSP00000141769 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057037] [ENSMUST00000192961] [ENSMUST00000194727] [ENSMUST00000195717] [ENSMUST00000195433]
AlphaFold Q6A065
Predicted Effect probably benign
Transcript: ENSMUST00000057037
AA Change: T287A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000059562
Gene: ENSMUSG00000057335
AA Change: T287A

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 probably benign
Transcript: ENSMUST00000192961
SMART Domains Protein: ENSMUSP00000142271
Gene: ENSMUSG00000057335

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 unknown
Transcript: ENSMUST00000194371
AA Change: T94A
Predicted Effect probably benign
Transcript: ENSMUST00000194727
AA Change: T287A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000141793
Gene: ENSMUSG00000057335
AA Change: T287A

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: ENSMUST00000195717
AA Change: T287A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000141769
Gene: ENSMUSG00000057335
AA Change: T287A

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 probably benign
Transcript: ENSMUST00000195433
SMART Domains Protein: ENSMUSP00000142108
Gene: ENSMUSG00000057335

DomainStartEndE-ValueType
FHA 22 73 6.1e-10 SMART
Meta Mutation Damage Score 0.0604 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.6%
  • 20x: 95.3%
Validation Efficiency 100% (72/72)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acd A T 8: 106,427,200 (GRCm39) probably null Het
Adcy9 A G 16: 4,237,403 (GRCm39) S3P probably damaging Het
Adgrl4 T C 3: 151,248,859 (GRCm39) probably benign Het
Aff3 T C 1: 38,249,004 (GRCm39) E700G probably benign Het
Ahctf1 A G 1: 179,596,979 (GRCm39) S56P probably damaging Het
Atp12a T A 14: 56,611,978 (GRCm39) I384N probably damaging Het
Brca1 A T 11: 101,399,036 (GRCm39) S1519T probably benign Het
Ccl25 T C 8: 4,399,850 (GRCm39) V94A probably benign Het
Ces1a A G 8: 93,752,209 (GRCm39) S383P probably benign Het
Cntnap3 A T 13: 64,906,228 (GRCm39) F793I probably damaging Het
Ctsm T C 13: 61,687,496 (GRCm39) R89G probably damaging Het
Cyp2j12 T G 4: 95,990,316 (GRCm39) T417P probably damaging Het
D430041D05Rik G C 2: 103,998,295 (GRCm39) P1836R probably damaging Het
Edn2 T A 4: 120,019,061 (GRCm39) probably null Het
Emc1 T A 4: 139,102,383 (GRCm39) probably benign Het
Entrep1 T A 19: 23,963,853 (GRCm39) N239Y probably damaging Het
Fras1 T C 5: 96,848,347 (GRCm39) probably benign Het
Fsip2 A T 2: 82,824,139 (GRCm39) D6624V probably damaging Het
Gpr107 A G 2: 31,068,297 (GRCm39) Y253C probably damaging Het
Gpr108 A G 17: 57,545,174 (GRCm39) probably benign Het
Grik1 A G 16: 87,848,221 (GRCm39) probably null Het
Gtf3c1 G A 7: 125,243,306 (GRCm39) P1766L possibly damaging Het
Gucy2c A T 6: 136,737,721 (GRCm39) N293K probably damaging Het
Hps6 C A 19: 45,992,260 (GRCm39) P66T probably benign Het
Hspa9 A T 18: 35,081,033 (GRCm39) V216E probably damaging Het
Igsf8 T A 1: 172,145,156 (GRCm39) M224K probably benign Het
Igsf9b T C 9: 27,238,216 (GRCm39) V569A probably damaging Het
Itgb4 A T 11: 115,884,168 (GRCm39) I952F probably damaging Het
Kcnh4 C T 11: 100,637,758 (GRCm39) G633E probably benign Het
Khdrbs2 A G 1: 32,696,603 (GRCm39) H344R possibly damaging Het
Kmo C A 1: 175,465,458 (GRCm39) R71S probably damaging Het
Lrrc31 A G 3: 30,739,184 (GRCm39) probably benign Het
Map1b T A 13: 99,578,149 (GRCm39) D168V probably damaging Het
Mfsd6 T C 1: 52,697,855 (GRCm39) probably benign Het
Mgst1 G A 6: 138,133,243 (GRCm39) G186D probably damaging Het
Mrc1 C T 2: 14,299,630 (GRCm39) A740V probably damaging Het
Mroh2a G A 1: 88,171,672 (GRCm39) R770Q probably damaging Het
Mtor T C 4: 148,610,503 (GRCm39) Y1605H possibly damaging Het
Ncoa4 T A 14: 31,898,509 (GRCm39) L443Q probably damaging Het
Nelfa G A 5: 34,060,807 (GRCm39) probably benign Het
Nepn T A 10: 52,277,353 (GRCm39) L363Q probably damaging Het
Nfat5 A G 8: 108,092,927 (GRCm39) T630A possibly damaging Het
Nipal4 A T 11: 46,041,211 (GRCm39) V328E probably benign Het
Or11h4b T A 14: 50,918,861 (GRCm39) I77F probably benign Het
Or2y1e T A 11: 49,218,575 (GRCm39) S112R possibly damaging Het
Or4c122 A T 2: 89,079,469 (GRCm39) C178S probably damaging Het
Or4d2b A T 11: 87,780,053 (GRCm39) V223E possibly damaging Het
Or6c76 T A 10: 129,612,131 (GRCm39) M116K probably damaging Het
Or8d2 T A 9: 38,759,909 (GRCm39) C166* probably null Het
Otogl A T 10: 107,652,931 (GRCm39) N1140K probably damaging Het
Ppip5k2 A C 1: 97,680,465 (GRCm39) Y236* probably null Het
Prelid1 C T 13: 55,472,156 (GRCm39) R111* probably null Het
Prpf8 T C 11: 75,394,270 (GRCm39) L1771P probably damaging Het
Ptprb A T 10: 116,138,230 (GRCm39) Y378F possibly damaging Het
Ptprb A G 10: 116,138,283 (GRCm39) T396A possibly damaging Het
Rab3il1 T C 19: 10,005,728 (GRCm39) L174P probably damaging Het
Rab4a T C 8: 124,550,574 (GRCm39) V18A possibly damaging Het
Scn3a T A 2: 65,302,628 (GRCm39) M1273L possibly damaging Het
Sdhc A T 1: 170,957,413 (GRCm39) V156E probably benign Het
Slco3a1 T C 7: 73,996,382 (GRCm39) probably benign Het
Syne3 T C 12: 104,924,371 (GRCm39) T343A probably benign Het
Syt11 A G 3: 88,669,776 (GRCm39) C39R probably damaging Het
Tll2 G T 19: 41,093,429 (GRCm39) D462E probably damaging Het
Tmem132e T A 11: 82,329,164 (GRCm39) V481D probably damaging Het
Tmem161b C T 13: 84,399,439 (GRCm39) L17F probably damaging Het
Vmn2r105 T A 17: 20,428,578 (GRCm39) I833F probably damaging Het
Vstm2a A T 11: 16,213,140 (GRCm39) N175I probably damaging Het
Xpnpep1 G T 19: 52,994,784 (GRCm39) D238E probably damaging Het
Zfp112 G A 7: 23,826,453 (GRCm39) G807D probably benign Het
Zfp518b A T 5: 38,830,946 (GRCm39) V353E probably damaging Het
Zfp69 T C 4: 120,791,544 (GRCm39) E39G probably benign Het
Zfp865 A G 7: 5,032,090 (GRCm39) H25R 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
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
Predicted Primers PCR Primer
(F):5'- CCCCAAACCAATGTGGTTTTGGC -3'
(R):5'- TTTCCTCATTAGGGTGCAGCACAG -3'

Sequencing Primer
(F):5'- TTCCCACACCATTTGAGGAGG -3'
(R):5'- TGGAGGGACAGTCTGCG -3'
Posted On 2013-07-11