Incidental Mutation 'IGL02740:Cep170'
ID 305842
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cep170
Ensembl Gene ENSMUSG00000057335
Gene Name centrosomal protein 170
Synonyms A330004A13Rik, 4933426L22Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.728) question?
Stock # IGL02740
Quality Score
Status
Chromosome 1
Chromosomal Location 176561219-176641633 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 176621166 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Proline at position 4 (T4P)
Ref Sequence ENSEMBL: ENSMUSP00000141793 (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: T4P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000059562
Gene: ENSMUSG00000057335
AA Change: T4P

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: ENSMUST00000122800
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192643
Predicted Effect probably damaging
Transcript: ENSMUST00000192961
AA Change: T4P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142271
Gene: ENSMUSG00000057335
AA Change: T4P

DomainStartEndE-ValueType
FHA 22 73 1.27e-7 SMART
low complexity region 118 133 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000194263
AA Change: T4P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000141720
Gene: ENSMUSG00000057335
AA Change: T4P

DomainStartEndE-ValueType
FHA 22 73 6.1e-10 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000194727
AA Change: T4P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141793
Gene: ENSMUSG00000057335
AA Change: T4P

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
AA Change: T4P

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000142108
Gene: ENSMUSG00000057335
AA Change: T4P

DomainStartEndE-ValueType
FHA 22 73 6.1e-10 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000195717
AA Change: T4P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000141769
Gene: ENSMUSG00000057335
AA Change: T4P

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
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Als2 C T 1: 59,209,078 (GRCm39) E1494K probably benign Het
Antxr2 A G 5: 98,178,251 (GRCm39) probably benign Het
Arhgap23 A C 11: 97,365,843 (GRCm39) K998Q probably damaging Het
Bap1 A G 14: 30,978,729 (GRCm39) N47D possibly damaging Het
Carmil1 A G 13: 24,278,501 (GRCm39) I156T probably damaging Het
Ccdc141 T C 2: 76,884,953 (GRCm39) T563A probably benign Het
Cct7 T C 6: 85,445,252 (GRCm39) F501S probably benign Het
Cd59b A G 2: 103,909,242 (GRCm39) I8V probably benign Het
Cep135 T C 5: 76,786,115 (GRCm39) probably null Het
Chaf1a G T 17: 56,374,500 (GRCm39) G896W probably damaging Het
Cpt1b A T 15: 89,308,535 (GRCm39) L131Q probably damaging Het
Dcaf13 C T 15: 39,008,495 (GRCm39) R366* probably null Het
Ddr2 A T 1: 169,812,514 (GRCm39) N659K probably damaging Het
Dmrt2 C A 19: 25,655,837 (GRCm39) L479I possibly damaging Het
Dnah10 A G 5: 124,903,927 (GRCm39) probably benign Het
Dsg3 C T 18: 20,660,765 (GRCm39) T368M possibly damaging Het
Dspp C A 5: 104,325,104 (GRCm39) S489* probably null Het
Eed A C 7: 89,621,464 (GRCm39) V112G possibly damaging Het
Ehmt1 T A 2: 24,705,851 (GRCm39) probably benign Het
Elavl3 T C 9: 21,947,675 (GRCm39) D89G probably benign Het
Ercc5 T C 1: 44,206,652 (GRCm39) S522P probably benign Het
Esrrg T C 1: 187,930,938 (GRCm39) L320P probably benign Het
Gadl1 T A 9: 115,835,629 (GRCm39) Y352* probably null Het
Gemin5 G A 11: 58,042,390 (GRCm39) A477V probably damaging Het
Gm3086 A T 12: 70,016,095 (GRCm39) probably benign Het
Gm8082 C T 14: 42,846,570 (GRCm39) probably benign Het
Gpr180 T C 14: 118,377,161 (GRCm39) L54P probably damaging Het
Gpsm1 G A 2: 26,230,585 (GRCm39) V512M probably benign Het
Ighv5-4 A G 12: 113,561,100 (GRCm39) S107P probably damaging Het
Irak4 T C 15: 94,464,925 (GRCm39) *460Q probably null Het
Nfkbiz G T 16: 55,638,317 (GRCm39) T381N probably benign Het
Or1e25 A T 11: 73,493,657 (GRCm39) N84Y probably benign Het
Or5d39 T A 2: 87,979,601 (GRCm39) H254L probably damaging Het
Or8b46 T C 9: 38,450,226 (GRCm39) F12L probably damaging Het
Or8g23 T C 9: 38,971,585 (GRCm39) I126V probably benign Het
Pou2f1 G A 1: 165,710,685 (GRCm39) Q523* probably null Het
Ptcra A G 17: 47,069,473 (GRCm39) S133P probably damaging Het
Ptgfrn A T 3: 100,980,253 (GRCm39) D362E possibly damaging Het
Rbm33 A T 5: 28,536,121 (GRCm39) D19V probably damaging Het
Rnf4 T A 5: 34,506,898 (GRCm39) V74D possibly damaging Het
Rprd1b A G 2: 157,889,899 (GRCm39) D7G probably damaging Het
Rrp1b A G 17: 32,278,305 (GRCm39) T659A probably damaging Het
Scaf11 T C 15: 96,316,883 (GRCm39) N894D probably benign Het
Scn1a G A 2: 66,155,106 (GRCm39) R618C probably damaging Het
Scn1a A T 2: 66,148,421 (GRCm39) D1041E probably benign Het
Slc43a1 G T 2: 84,690,094 (GRCm39) A424S probably damaging Het
Sprtn T C 8: 125,625,042 (GRCm39) L49P probably damaging Het
Sv2a G T 3: 96,092,723 (GRCm39) R141L possibly damaging Het
Thsd7b C T 1: 129,540,864 (GRCm39) S246F probably damaging Het
Tmem117 A T 15: 94,612,863 (GRCm39) D133V probably benign Het
Tnn A T 1: 159,968,347 (GRCm39) probably benign Het
Triobp G A 15: 78,850,889 (GRCm39) V348I probably benign Het
Trps1 A T 15: 50,709,935 (GRCm39) D134E probably damaging Het
Ttn T C 2: 76,598,162 (GRCm39) I19584V probably benign Het
Uqcrfs1 T C 13: 30,725,006 (GRCm39) H178R probably damaging Het
Ush2a A T 1: 188,380,585 (GRCm39) Q2298L possibly damaging Het
Vmn2r67 A G 7: 84,785,818 (GRCm39) I729T probably damaging Het
Vmn2r79 A T 7: 86,653,366 (GRCm39) M544L probably benign Het
Vps41 T A 13: 19,022,850 (GRCm39) L404Q probably damaging Het
Xrcc5 T G 1: 72,379,240 (GRCm39) probably null Het
Zfp735 A G 11: 73,601,412 (GRCm39) K119E 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
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
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
Posted On 2015-04-16