Incidental Mutation 'R1526:Cep170'
ID 167411
Institutional Source Beutler Lab
Gene Symbol Cep170
Ensembl Gene ENSMUSG00000057335
Gene Name centrosomal protein 170
Synonyms A330004A13Rik, 4933426L22Rik
MMRRC Submission 039566-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.728) question?
Stock # R1526 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 176561219-176641633 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 176616071 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Serine at position 79 (I79S)
Ref Sequence ENSEMBL: ENSMUSP00000141769 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057037] [ENSMUST00000192961] [ENSMUST00000194263] [ENSMUST00000194727] [ENSMUST00000195433] [ENSMUST00000195717]
AlphaFold Q6A065
Predicted Effect probably damaging
Transcript: ENSMUST00000057037
AA Change: I79S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000059562
Gene: ENSMUSG00000057335
AA Change: I79S

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: ENSMUST00000192643
Predicted Effect probably damaging
Transcript: ENSMUST00000192961
AA Change: I79S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000142271
Gene: ENSMUSG00000057335
AA Change: I79S

DomainStartEndE-ValueType
FHA 22 73 1.27e-7 SMART
low complexity region 118 133 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000194263
AA Change: I79S

PolyPhen 2 Score 0.498 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000141720
Gene: ENSMUSG00000057335
AA Change: I79S

DomainStartEndE-ValueType
FHA 22 73 6.1e-10 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000194727
AA Change: I79S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000141793
Gene: ENSMUSG00000057335
AA Change: I79S

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 possibly damaging
Transcript: ENSMUST00000195433
AA Change: I79S

PolyPhen 2 Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000142108
Gene: ENSMUSG00000057335
AA Change: I79S

DomainStartEndE-ValueType
FHA 22 73 6.1e-10 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000195717
AA Change: I79S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000141769
Gene: ENSMUSG00000057335
AA Change: I79S

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: 99.0%
  • 3x: 98.1%
  • 10x: 95.7%
  • 20x: 90.8%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asap2 G T 12: 21,235,188 (GRCm39) A97S probably damaging Het
Brd10 T C 19: 29,712,545 (GRCm39) K785E probably damaging Het
C1qtnf1 A T 11: 118,334,616 (GRCm39) E32V possibly damaging Het
Ccdc81 A G 7: 89,525,081 (GRCm39) L500P probably damaging Het
Cdo1 T C 18: 46,861,130 (GRCm39) E27G probably benign Het
Ceacam5 G A 7: 17,484,620 (GRCm39) G454D probably damaging Het
Cemip T C 7: 83,600,648 (GRCm39) D991G probably damaging Het
Cep19 A G 16: 31,926,039 (GRCm39) Q149R possibly damaging Het
Cideb A T 14: 55,992,619 (GRCm39) L99* probably null Het
Cntnap5a A G 1: 116,356,207 (GRCm39) N746S probably benign Het
Col12a1 T C 9: 79,564,080 (GRCm39) N1715S probably benign Het
Col3a1 T C 1: 45,360,848 (GRCm39) S93P unknown Het
Csmd3 C A 15: 47,449,028 (GRCm39) probably null Het
Disp3 T C 4: 148,344,373 (GRCm39) I510V probably benign Het
Drosha T A 15: 12,914,070 (GRCm39) V1115E probably damaging Het
Dzip3 A C 16: 48,757,369 (GRCm39) L888R probably damaging Het
Emx2 C A 19: 59,452,442 (GRCm39) A242E probably benign Het
Fto G A 8: 92,168,314 (GRCm39) E256K possibly damaging Het
Gabrb2 A C 11: 42,482,715 (GRCm39) Y191S possibly damaging Het
Gm6526 A T 14: 43,987,394 (GRCm39) H110L probably damaging Het
Grin3b T A 10: 79,810,436 (GRCm39) N647K probably damaging Het
Ifit2 T G 19: 34,550,602 (GRCm39) S47R probably benign Het
Il5ra A T 6: 106,712,781 (GRCm39) V244E possibly damaging Het
Inppl1 A G 7: 101,482,153 (GRCm39) L141P probably benign Het
Iws1 A G 18: 32,213,178 (GRCm39) D202G probably benign Het
Kctd4 A C 14: 76,200,523 (GRCm39) I165L probably benign Het
Lrch3 G A 16: 32,770,746 (GRCm39) C116Y probably damaging Het
Mettl25 T C 10: 105,668,844 (GRCm39) T93A possibly damaging Het
Mgat4d A G 8: 84,095,666 (GRCm39) I314V probably benign Het
Mrgprb4 A T 7: 47,848,159 (GRCm39) Y256* probably null Het
Myo9b G T 8: 71,808,408 (GRCm39) V1672L probably damaging Het
Nek1 C T 8: 61,502,975 (GRCm39) P449L probably benign Het
Nucb2 G A 7: 116,123,642 (GRCm39) probably null Het
Obscn T C 11: 58,919,412 (GRCm39) Y6864C probably damaging Het
Omt2b A T 9: 78,235,420 (GRCm39) probably benign Het
Or2y3 T A 17: 38,393,486 (GRCm39) I128F probably damaging Het
Or4p18 C T 2: 88,232,777 (GRCm39) C167Y probably damaging Het
Or5ac15 G A 16: 58,940,293 (GRCm39) L47F probably damaging Het
Or6c208 A G 10: 129,224,176 (GRCm39) K225E probably benign Het
Otogl G T 10: 107,705,387 (GRCm39) P647T probably damaging Het
Oxnad1 A G 14: 31,824,244 (GRCm39) D271G probably benign Het
Pbx3 T C 2: 34,261,776 (GRCm39) I53V probably damaging Het
Pds5b T A 5: 150,639,865 (GRCm39) probably null Het
Ppp4r3a A T 12: 101,007,000 (GRCm39) D810E probably damaging Het
Ptpro A T 6: 137,438,724 (GRCm39) D1189V probably damaging Het
Ryr3 T C 2: 112,492,002 (GRCm39) N3758S probably damaging Het
Scarb2 G A 5: 92,594,200 (GRCm39) T454M possibly damaging Het
Sec23a A C 12: 59,032,972 (GRCm39) probably null Het
Spire2 C T 8: 124,095,502 (GRCm39) A535V probably benign Het
Svopl A T 6: 38,006,570 (GRCm39) F142L probably benign Het
Tas2r144 T C 6: 42,192,674 (GRCm39) I138T probably benign Het
Tbc1d15 A G 10: 115,039,135 (GRCm39) M535T probably benign Het
Tnfaip1 C T 11: 78,420,971 (GRCm39) V30M possibly damaging Het
Topaz1 T A 9: 122,625,108 (GRCm39) W1398R probably damaging Het
Tpo A G 12: 30,134,694 (GRCm39) S755P probably damaging Het
Ttn G T 2: 76,606,460 (GRCm39) S18116R probably damaging Het
Vmn2r78 A G 7: 86,571,465 (GRCm39) probably null Het
Wdr49 T A 3: 75,304,227 (GRCm39) K494M probably benign Het
Yeats2 A G 16: 20,024,836 (GRCm39) M697V probably damaging Het
Zfp407 G A 18: 84,579,158 (GRCm39) P652S possibly damaging Het
Zfp462 A G 4: 55,009,002 (GRCm39) M323V probably benign Het
Zfp629 G T 7: 127,209,931 (GRCm39) P626Q possibly damaging Het
Zfp804a A T 2: 82,088,532 (GRCm39) Y787F 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
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'- GTGCTTAAGACAGCCACAGTCCTC -3'
(R):5'- ACGCTTGACAGGTTAGGATGCAG -3'

Sequencing Primer
(F):5'- TCTGGAAAGTAGCACCACAG -3'
(R):5'- CAGGTTAGGATGCAGTTCACAATAC -3'
Posted On 2014-04-13