Incidental Mutation 'R5153:Cep350'
ID 395490
Institutional Source Beutler Lab
Gene Symbol Cep350
Ensembl Gene ENSMUSG00000033671
Gene Name centrosomal protein 350
Synonyms 4933409L06Rik, 6430546F08Rik
MMRRC Submission 042735-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.961) question?
Stock # R5153 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 155720710-155849001 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 155811692 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 416 (I416K)
Ref Sequence ENSEMBL: ENSMUSP00000120085 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000124495] [ENSMUST00000138762]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000124495
AA Change: I356K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000138762
AA Change: I416K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120085
Gene: ENSMUSG00000033671
AA Change: I416K

DomainStartEndE-ValueType
low complexity region 251 265 N/A INTRINSIC
low complexity region 376 394 N/A INTRINSIC
low complexity region 481 491 N/A INTRINSIC
coiled coil region 596 641 N/A INTRINSIC
low complexity region 659 669 N/A INTRINSIC
low complexity region 701 719 N/A INTRINSIC
low complexity region 754 763 N/A INTRINSIC
low complexity region 979 994 N/A INTRINSIC
low complexity region 1153 1175 N/A INTRINSIC
low complexity region 1250 1267 N/A INTRINSIC
coiled coil region 1363 1402 N/A INTRINSIC
low complexity region 1517 1531 N/A INTRINSIC
low complexity region 1536 1546 N/A INTRINSIC
low complexity region 1694 1714 N/A INTRINSIC
coiled coil region 1732 1794 N/A INTRINSIC
low complexity region 1800 1811 N/A INTRINSIC
low complexity region 1819 1835 N/A INTRINSIC
coiled coil region 1853 1893 N/A INTRINSIC
low complexity region 1980 1994 N/A INTRINSIC
coiled coil region 2042 2092 N/A INTRINSIC
low complexity region 2383 2394 N/A INTRINSIC
low complexity region 2409 2421 N/A INTRINSIC
low complexity region 2470 2482 N/A INTRINSIC
CAP_GLY 2486 2551 5.91e-31 SMART
coiled coil region 2700 2731 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
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 large protein with a CAP-Gly domain typically found in cytoskeleton-associated proteins. The encoded protein primarily localizes to the centrosome, a non-membraneous organelle that functions as the major microtubule-organizing center in animal cells. The encoded protein directly interacts with another large centrosomal protein and is required to anchor microtubules at the centrosome. It is also implicated in the regulation of a class of nuclear hormone receptors in the nucleus. Several alternatively spliced transcript variants have been found, but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]
Allele List at MGI

 All alleles(5) : Gene trapped(5)

Other mutations in this stock
Total: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2300003K06Rik A T 11: 99,728,073 (GRCm39) C257S unknown Het
4930596D02Rik C A 14: 35,532,212 (GRCm39) R121L probably benign Het
Aadacl4fm1 T A 4: 144,248,837 (GRCm39) M68K probably benign Het
Acin1 A G 14: 54,883,070 (GRCm39) V194A probably benign Het
Acsm1 T C 7: 119,239,950 (GRCm39) I298T possibly damaging Het
Aoc1 A G 6: 48,885,681 (GRCm39) N729D probably benign Het
Apobr C T 7: 126,186,904 (GRCm39) T20I possibly damaging Het
Arsb A G 13: 94,077,106 (GRCm39) E491G probably benign Het
AW209491 C G 13: 14,811,764 (GRCm39) Q206E probably benign Het
Camsap1 A T 2: 25,823,630 (GRCm39) N1473K probably damaging Het
Casp8 A G 1: 58,884,004 (GRCm39) Q457R probably benign Het
Ccdc154 G A 17: 25,387,315 (GRCm39) A350T probably damaging Het
Cecr2 A G 6: 120,711,521 (GRCm39) E183G probably benign Het
Cep295 A T 9: 15,268,925 (GRCm39) S39T probably benign Het
Cidea C T 18: 67,500,490 (GRCm39) T184M probably damaging Het
Cnot10 G A 9: 114,442,803 (GRCm39) A468V probably damaging Het
Cstdc1 A G 2: 148,625,360 (GRCm39) Q98R probably benign Het
Defb22 A T 2: 152,327,722 (GRCm39) N154K unknown Het
Dnah17 A T 11: 117,973,800 (GRCm39) C1915* probably null Het
Dnah2 T C 11: 69,411,759 (GRCm39) T288A possibly damaging Het
Dop1b T A 16: 93,570,891 (GRCm39) M1512K probably damaging Het
Dsp T G 13: 38,366,282 (GRCm39) I572S probably damaging Het
Eepd1 A G 9: 25,498,049 (GRCm39) H378R probably benign Het
Elapor1 A T 3: 108,380,063 (GRCm39) Y349N possibly damaging Het
Emilin2 A G 17: 71,580,497 (GRCm39) M743T possibly damaging Het
Ext1 C A 15: 52,939,213 (GRCm39) W612L probably damaging Het
F2rl2 A G 13: 95,833,620 (GRCm39) T17A probably benign Het
Fbxl8 T G 8: 105,993,739 (GRCm39) C32G probably damaging Het
Fbxw17 A G 13: 50,573,897 (GRCm39) T38A probably damaging Het
Flii A T 11: 60,607,512 (GRCm39) L882Q possibly damaging Het
Focad T G 4: 88,278,121 (GRCm39) S1197A unknown Het
H1f11-ps A G 19: 47,159,356 (GRCm39) V73A probably damaging Het
Heatr5b G A 17: 79,102,536 (GRCm39) R1281* probably null Het
Khdc3 A G 9: 73,010,720 (GRCm39) Q190R probably benign Het
Krt9 T A 11: 100,082,068 (GRCm39) D244V probably damaging Het
Ldhd T C 8: 112,353,724 (GRCm39) E463G probably benign Het
Lig4 A T 8: 10,023,003 (GRCm39) V259E possibly damaging Het
Luc7l3 A T 11: 94,186,806 (GRCm39) probably benign Het
Man1a2 T C 3: 100,563,579 (GRCm39) E22G probably damaging Het
Mmp23 T G 4: 155,735,797 (GRCm39) D258A probably damaging Het
Msantd2 C T 9: 37,434,509 (GRCm39) R250* probably null Het
Mynn T C 3: 30,665,738 (GRCm39) S457P probably benign Het
Nectin1 C T 9: 43,714,795 (GRCm39) H50Y probably damaging Het
Or10a3b T C 7: 108,444,906 (GRCm39) I104V probably benign Het
Or2d3c C T 7: 106,525,776 (GRCm39) V297M possibly damaging Het
Or4a47 G A 2: 89,665,578 (GRCm39) T237I possibly damaging Het
Or6c6c A G 10: 129,541,026 (GRCm39) N93S probably benign Het
Pfkfb2 G A 1: 130,629,527 (GRCm39) T303M probably damaging Het
Pkhd1l1 A G 15: 44,368,705 (GRCm39) D841G probably benign Het
Plxna4 A T 6: 32,201,094 (GRCm39) probably null Het
Podnl1 C T 8: 84,857,272 (GRCm39) H294Y probably benign Het
Ppig T A 2: 69,579,994 (GRCm39) D509E unknown Het
Ppp1r16a T A 15: 76,578,596 (GRCm39) Y433* probably null Het
Prdm1 A C 10: 44,326,221 (GRCm39) V134G possibly damaging Het
Prx T C 7: 27,217,901 (GRCm39) S940P probably damaging Het
Ptprd C T 4: 75,930,339 (GRCm39) V731I probably damaging Het
Qki A G 17: 10,457,820 (GRCm39) probably null Het
Rassf6 T C 5: 90,754,699 (GRCm39) K206R possibly damaging Het
Rdh16f2 G A 10: 127,712,124 (GRCm39) E194K possibly damaging Het
Rims1 C A 1: 22,522,328 (GRCm39) G457* probably null Het
Ripk1 T G 13: 34,197,279 (GRCm39) I123R probably damaging Het
Rnf111 A T 9: 70,383,422 (GRCm39) S170R probably benign Het
Shc3 A T 13: 51,615,413 (GRCm39) F181L probably damaging Het
Siglec1 A C 2: 130,927,497 (GRCm39) V103G probably damaging Het
Slc26a11 G T 11: 119,268,085 (GRCm39) A488S possibly damaging Het
Smoc2 A T 17: 14,556,841 (GRCm39) T97S probably damaging Het
Son T C 16: 91,451,910 (GRCm39) I219T possibly damaging Het
Sptbn1 A T 11: 30,071,510 (GRCm39) I1474N possibly damaging Het
Syt16 A T 12: 74,269,542 (GRCm39) D127V possibly damaging Het
Tet1 G T 10: 62,714,357 (GRCm39) N479K possibly damaging Het
Thsd7a G A 6: 12,338,654 (GRCm39) A1192V probably benign Het
Tmed3 G A 9: 89,581,825 (GRCm39) R213* probably null Het
Traj57 A G 14: 54,396,016 (GRCm39) probably benign Het
Trpv1 G T 11: 73,129,342 (GRCm39) R86S probably benign Het
Usp48 T A 4: 137,343,673 (GRCm39) F434L possibly damaging Het
Vmn2r59 A C 7: 41,691,834 (GRCm39) probably null Het
Vmn2r71 T A 7: 85,268,430 (GRCm39) I211N possibly damaging Het
Vps13b T A 15: 35,422,599 (GRCm39) D186E probably damaging Het
Vps33a A G 5: 123,696,691 (GRCm39) S321P probably damaging Het
Wdr12 A T 1: 60,133,670 (GRCm39) D19E probably benign Het
Zc3h12c A G 9: 52,037,947 (GRCm39) F278L probably damaging Het
Zpld1 T C 16: 55,067,007 (GRCm39) T183A probably damaging Het
Zswim2 G T 2: 83,770,010 (GRCm39) T68K possibly damaging Het
Other mutations in Cep350
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00764:Cep350 APN 1 155,816,492 (GRCm39) missense possibly damaging 0.68
IGL00821:Cep350 APN 1 155,737,950 (GRCm39) missense probably benign
IGL00837:Cep350 APN 1 155,829,137 (GRCm39) missense probably damaging 1.00
IGL00977:Cep350 APN 1 155,808,611 (GRCm39) missense probably null 0.99
IGL01544:Cep350 APN 1 155,828,933 (GRCm39) missense probably damaging 1.00
IGL01616:Cep350 APN 1 155,828,993 (GRCm39) missense probably benign 0.00
IGL01695:Cep350 APN 1 155,819,904 (GRCm39) missense probably damaging 1.00
IGL01902:Cep350 APN 1 155,737,731 (GRCm39) missense probably damaging 1.00
IGL01977:Cep350 APN 1 155,787,714 (GRCm39) missense probably benign 0.01
IGL02388:Cep350 APN 1 155,829,499 (GRCm39) missense probably benign 0.28
IGL02475:Cep350 APN 1 155,738,341 (GRCm39) missense probably damaging 1.00
IGL02528:Cep350 APN 1 155,770,361 (GRCm39) missense probably damaging 1.00
IGL02598:Cep350 APN 1 155,738,713 (GRCm39) missense probably benign 0.00
IGL02676:Cep350 APN 1 155,737,977 (GRCm39) missense possibly damaging 0.82
IGL02728:Cep350 APN 1 155,828,968 (GRCm39) missense probably benign 0.02
IGL02744:Cep350 APN 1 155,807,279 (GRCm39) missense probably damaging 0.98
IGL02817:Cep350 APN 1 155,804,588 (GRCm39) missense probably damaging 1.00
IGL02892:Cep350 APN 1 155,744,552 (GRCm39) missense possibly damaging 0.51
IGL03156:Cep350 APN 1 155,733,788 (GRCm39) missense probably damaging 1.00
IGL03166:Cep350 APN 1 155,739,346 (GRCm39) missense possibly damaging 0.78
IGL03216:Cep350 APN 1 155,736,373 (GRCm39) missense probably benign 0.06
IGL03268:Cep350 APN 1 155,829,295 (GRCm39) missense probably benign 0.16
IGL03358:Cep350 APN 1 155,804,285 (GRCm39) missense probably benign
primed UTSW 1 155,829,334 (GRCm39) missense probably damaging 0.98
stoked UTSW 1 155,791,321 (GRCm39) missense probably benign 0.03
NA:Cep350 UTSW 1 155,834,394 (GRCm39) missense probably damaging 1.00
R0060:Cep350 UTSW 1 155,804,372 (GRCm39) missense probably damaging 1.00
R0060:Cep350 UTSW 1 155,804,372 (GRCm39) missense probably damaging 1.00
R0066:Cep350 UTSW 1 155,786,964 (GRCm39) missense probably damaging 0.99
R0066:Cep350 UTSW 1 155,786,964 (GRCm39) missense probably damaging 0.99
R0172:Cep350 UTSW 1 155,829,193 (GRCm39) missense probably benign 0.00
R0365:Cep350 UTSW 1 155,782,317 (GRCm39) missense probably benign 0.00
R0472:Cep350 UTSW 1 155,790,469 (GRCm39) missense probably damaging 0.99
R0502:Cep350 UTSW 1 155,776,629 (GRCm39) splice site probably null
R0538:Cep350 UTSW 1 155,724,366 (GRCm39) missense possibly damaging 0.80
R0547:Cep350 UTSW 1 155,777,181 (GRCm39) splice site probably null
R0565:Cep350 UTSW 1 155,836,941 (GRCm39) splice site probably benign
R0607:Cep350 UTSW 1 155,747,794 (GRCm39) missense probably damaging 1.00
R0645:Cep350 UTSW 1 155,816,458 (GRCm39) splice site probably null
R0675:Cep350 UTSW 1 155,835,499 (GRCm39) missense possibly damaging 0.63
R0828:Cep350 UTSW 1 155,828,992 (GRCm39) missense probably benign 0.00
R0863:Cep350 UTSW 1 155,737,981 (GRCm39) missense probably benign 0.00
R0969:Cep350 UTSW 1 155,816,572 (GRCm39) missense possibly damaging 0.81
R1102:Cep350 UTSW 1 155,807,264 (GRCm39) missense probably damaging 1.00
R1186:Cep350 UTSW 1 155,751,122 (GRCm39) missense probably damaging 1.00
R1552:Cep350 UTSW 1 155,786,484 (GRCm39) missense possibly damaging 0.92
R1560:Cep350 UTSW 1 155,804,825 (GRCm39) missense possibly damaging 0.48
R1698:Cep350 UTSW 1 155,829,104 (GRCm39) missense possibly damaging 0.62
R1729:Cep350 UTSW 1 155,787,727 (GRCm39) missense probably benign 0.17
R1735:Cep350 UTSW 1 155,828,960 (GRCm39) missense probably damaging 0.99
R1740:Cep350 UTSW 1 155,804,579 (GRCm39) missense probably damaging 1.00
R1783:Cep350 UTSW 1 155,804,611 (GRCm39) missense probably damaging 1.00
R1844:Cep350 UTSW 1 155,724,374 (GRCm39) missense probably damaging 0.99
R1848:Cep350 UTSW 1 155,829,397 (GRCm39) missense probably benign 0.28
R1988:Cep350 UTSW 1 155,808,850 (GRCm39) missense possibly damaging 0.82
R2008:Cep350 UTSW 1 155,790,467 (GRCm39) missense probably benign 0.16
R2241:Cep350 UTSW 1 155,834,302 (GRCm39) splice site probably null
R2245:Cep350 UTSW 1 155,754,766 (GRCm39) missense probably benign 0.10
R2402:Cep350 UTSW 1 155,738,882 (GRCm39) missense probably benign
R2566:Cep350 UTSW 1 155,835,464 (GRCm39) critical splice donor site probably null
R3160:Cep350 UTSW 1 155,738,910 (GRCm39) missense probably benign 0.00
R3162:Cep350 UTSW 1 155,738,910 (GRCm39) missense probably benign 0.00
R3769:Cep350 UTSW 1 155,828,950 (GRCm39) missense probably damaging 1.00
R4035:Cep350 UTSW 1 155,835,541 (GRCm39) missense probably benign 0.06
R4158:Cep350 UTSW 1 155,808,621 (GRCm39) missense probably damaging 1.00
R4160:Cep350 UTSW 1 155,808,621 (GRCm39) missense probably damaging 1.00
R4213:Cep350 UTSW 1 155,811,707 (GRCm39) missense probably damaging 1.00
R4483:Cep350 UTSW 1 155,802,214 (GRCm39) missense probably benign 0.01
R4648:Cep350 UTSW 1 155,778,344 (GRCm39) missense possibly damaging 0.85
R4694:Cep350 UTSW 1 155,804,332 (GRCm39) missense probably damaging 1.00
R4836:Cep350 UTSW 1 155,804,579 (GRCm39) missense probably damaging 1.00
R4839:Cep350 UTSW 1 155,804,240 (GRCm39) missense probably benign 0.00
R4969:Cep350 UTSW 1 155,736,025 (GRCm39) missense probably damaging 0.99
R5014:Cep350 UTSW 1 155,803,952 (GRCm39) missense probably benign 0.00
R5027:Cep350 UTSW 1 155,809,100 (GRCm39) missense probably benign 0.01
R5144:Cep350 UTSW 1 155,786,896 (GRCm39) missense probably damaging 0.99
R5165:Cep350 UTSW 1 155,804,114 (GRCm39) missense probably damaging 1.00
R5182:Cep350 UTSW 1 155,733,854 (GRCm39) missense probably damaging 1.00
R5445:Cep350 UTSW 1 155,770,469 (GRCm39) missense probably benign 0.01
R5738:Cep350 UTSW 1 155,741,824 (GRCm39) missense probably damaging 1.00
R5809:Cep350 UTSW 1 155,809,087 (GRCm39) missense probably damaging 0.98
R5855:Cep350 UTSW 1 155,829,508 (GRCm39) missense probably benign 0.00
R6103:Cep350 UTSW 1 155,800,322 (GRCm39) missense probably benign 0.05
R6139:Cep350 UTSW 1 155,829,025 (GRCm39) missense probably benign 0.03
R6285:Cep350 UTSW 1 155,829,120 (GRCm39) missense possibly damaging 0.48
R6430:Cep350 UTSW 1 155,770,419 (GRCm39) missense probably damaging 1.00
R6446:Cep350 UTSW 1 155,737,900 (GRCm39) missense probably benign
R6520:Cep350 UTSW 1 155,809,082 (GRCm39) missense probably benign 0.02
R6712:Cep350 UTSW 1 155,733,852 (GRCm39) missense possibly damaging 0.93
R6940:Cep350 UTSW 1 155,804,297 (GRCm39) missense probably benign 0.01
R7020:Cep350 UTSW 1 155,804,077 (GRCm39) missense probably damaging 1.00
R7056:Cep350 UTSW 1 155,724,373 (GRCm39) missense probably damaging 1.00
R7141:Cep350 UTSW 1 155,790,494 (GRCm39) missense probably damaging 1.00
R7215:Cep350 UTSW 1 155,770,453 (GRCm39) missense possibly damaging 0.89
R7247:Cep350 UTSW 1 155,786,499 (GRCm39) missense probably damaging 1.00
R7272:Cep350 UTSW 1 155,829,334 (GRCm39) missense probably damaging 0.98
R7336:Cep350 UTSW 1 155,738,022 (GRCm39) missense probably benign 0.17
R7361:Cep350 UTSW 1 155,777,237 (GRCm39) missense probably damaging 1.00
R7390:Cep350 UTSW 1 155,741,833 (GRCm39) missense possibly damaging 0.94
R7402:Cep350 UTSW 1 155,803,961 (GRCm39) missense probably benign 0.00
R7428:Cep350 UTSW 1 155,770,365 (GRCm39) missense probably benign 0.00
R7440:Cep350 UTSW 1 155,816,518 (GRCm39) missense probably damaging 0.98
R7520:Cep350 UTSW 1 155,791,375 (GRCm39) missense probably benign 0.05
R7529:Cep350 UTSW 1 155,737,669 (GRCm39) missense probably benign 0.08
R7635:Cep350 UTSW 1 155,754,767 (GRCm39) nonsense probably null
R7806:Cep350 UTSW 1 155,737,809 (GRCm39) missense probably benign 0.00
R8100:Cep350 UTSW 1 155,829,148 (GRCm39) missense probably damaging 0.97
R8192:Cep350 UTSW 1 155,816,529 (GRCm39) missense possibly damaging 0.94
R8193:Cep350 UTSW 1 155,737,825 (GRCm39) missense probably benign 0.01
R8351:Cep350 UTSW 1 155,747,780 (GRCm39) missense probably damaging 0.99
R8406:Cep350 UTSW 1 155,798,164 (GRCm39) missense probably benign 0.00
R8451:Cep350 UTSW 1 155,747,780 (GRCm39) missense probably damaging 0.99
R8467:Cep350 UTSW 1 155,791,321 (GRCm39) missense probably benign 0.03
R8543:Cep350 UTSW 1 155,738,122 (GRCm39) missense probably damaging 0.98
R8714:Cep350 UTSW 1 155,736,477 (GRCm39) missense probably damaging 0.98
R8810:Cep350 UTSW 1 155,803,862 (GRCm39) missense probably damaging 1.00
R8837:Cep350 UTSW 1 155,737,518 (GRCm39) missense probably benign 0.09
R8933:Cep350 UTSW 1 155,739,161 (GRCm39) missense probably benign 0.01
R9043:Cep350 UTSW 1 155,773,228 (GRCm39) missense probably damaging 1.00
R9050:Cep350 UTSW 1 155,738,687 (GRCm39) missense possibly damaging 0.81
R9067:Cep350 UTSW 1 155,737,485 (GRCm39) missense probably benign 0.00
R9105:Cep350 UTSW 1 155,835,561 (GRCm39) missense probably damaging 1.00
R9295:Cep350 UTSW 1 155,738,051 (GRCm39) nonsense probably null
R9304:Cep350 UTSW 1 155,829,464 (GRCm39) missense probably damaging 0.98
R9456:Cep350 UTSW 1 155,744,457 (GRCm39) missense probably benign 0.00
R9575:Cep350 UTSW 1 155,751,113 (GRCm39) missense probably benign 0.03
R9715:Cep350 UTSW 1 155,751,107 (GRCm39) missense probably benign 0.00
R9749:Cep350 UTSW 1 155,828,985 (GRCm39) missense probably benign 0.02
R9758:Cep350 UTSW 1 155,770,433 (GRCm39) missense probably damaging 0.96
R9767:Cep350 UTSW 1 155,739,018 (GRCm39) missense probably benign 0.01
RF020:Cep350 UTSW 1 155,791,224 (GRCm39) missense probably benign 0.34
X0018:Cep350 UTSW 1 155,829,032 (GRCm39) missense probably benign 0.13
Predicted Primers PCR Primer
(F):5'- GTATGTAAACAGGCAACCTTGG -3'
(R):5'- CAAACTGTTAACCAAATTTGATGGC -3'

Sequencing Primer
(F):5'- ACAGGCAACCTTGGTTTTTGAAGC -3'
(R):5'- AAGATGGTTGTAAGCCTCCATG -3'
Posted On 2016-06-21