Incidental Mutation 'R7336:Cep350'
ID 569466
Institutional Source Beutler Lab
Gene Symbol Cep350
Ensembl Gene ENSMUSG00000033671
Gene Name centrosomal protein 350
Synonyms 4933409L06Rik, 6430546F08Rik
MMRRC Submission 045426-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.961) question?
Stock # R7336 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 155720710-155849001 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 155738022 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 2607 (H2607L)
Ref Sequence ENSEMBL: ENSMUSP00000120085 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000138762]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000129865
Predicted Effect probably benign
Transcript: ENSMUST00000138762
AA Change: H2607L

PolyPhen 2 Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000120085
Gene: ENSMUSG00000033671
AA Change: H2607L

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 99% (80/81)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm1 G A 3: 59,840,174 (GRCm39) probably null Het
Abca15 A T 7: 119,987,456 (GRCm39) Q1247H possibly damaging Het
Acsf2 G C 11: 94,462,476 (GRCm39) Q180E probably benign Het
Adamts8 A G 9: 30,873,363 (GRCm39) D856G probably benign Het
Agrn A T 4: 156,259,371 (GRCm39) C828* probably null Het
Ankub1 T C 3: 57,573,108 (GRCm39) T205A probably benign Het
Atm A T 9: 53,373,803 (GRCm39) Y2150N possibly damaging Het
Barhl1 A G 2: 28,799,855 (GRCm39) F257L probably benign Het
Bcat2 T A 7: 45,224,909 (GRCm39) C27S probably benign Het
Bod1l G A 5: 41,978,867 (GRCm39) R816C probably damaging Het
Btg3 A G 16: 78,161,695 (GRCm39) Y172H probably benign Het
Cacna1d T C 14: 29,767,239 (GRCm39) D1940G probably benign Het
Catsperg2 T A 7: 29,406,026 (GRCm39) N624I possibly damaging Het
Ccdc146 A G 5: 21,508,110 (GRCm39) V646A probably benign Het
Ccp110 C T 7: 118,321,433 (GRCm39) P363S probably damaging Het
Cct4 C A 11: 22,951,564 (GRCm39) T377K possibly damaging Het
Cemip2 C A 19: 21,803,509 (GRCm39) Y847* probably null Het
Cfap46 A G 7: 139,200,020 (GRCm39) F1954L unknown Het
Chat C T 14: 32,145,213 (GRCm39) probably null Het
Clasp2 A G 9: 113,705,421 (GRCm39) probably null Het
Cldn9 T C 17: 23,901,989 (GRCm39) D212G probably benign Het
Cp G A 3: 20,018,696 (GRCm39) probably null Het
Cyfip1 T A 7: 55,576,148 (GRCm39) I1108N possibly damaging Het
Dnah14 A G 1: 181,625,299 (GRCm39) D4060G probably damaging Het
Dpyd A G 3: 118,858,570 (GRCm39) T595A probably damaging Het
Eps8 G A 6: 137,486,211 (GRCm39) R434C possibly damaging Het
Fasl A G 1: 161,615,557 (GRCm39) Y100H probably damaging Het
Fkbp9 A T 6: 56,826,712 (GRCm39) N104I probably damaging Het
Frmd4a A G 2: 4,478,025 (GRCm39) T65A possibly damaging Het
Gm1110 T C 9: 26,825,653 (GRCm39) N102S probably damaging Het
Gm2381 T C 7: 42,471,804 (GRCm39) Q25R possibly damaging Het
Gtpbp2 A G 17: 46,472,239 (GRCm39) Y58C probably damaging Het
H2-T3 C A 17: 36,498,237 (GRCm39) K269N probably damaging Het
Icosl C A 10: 77,909,707 (GRCm39) Y217* probably null Het
Il17rd G T 14: 26,809,503 (GRCm39) R153L probably benign Het
Kif17 C A 4: 138,025,617 (GRCm39) T973K possibly damaging Het
Klk1b16 A G 7: 43,790,907 (GRCm39) I236M probably benign Het
Lgmn G A 12: 102,389,998 (GRCm39) probably benign Het
Lmbr1l T C 15: 98,811,468 (GRCm39) D54G possibly damaging Het
Lrrc49 A T 9: 60,584,474 (GRCm39) I196N possibly damaging Het
Maml1 C T 11: 50,157,276 (GRCm39) A300T possibly damaging Het
Mapkap1 A T 2: 34,423,829 (GRCm39) Q293L possibly damaging Het
Mki67 T C 7: 135,315,568 (GRCm39) T69A probably benign Het
Mlph G A 1: 90,849,705 (GRCm39) probably null Het
Myh1 A T 11: 67,111,435 (GRCm39) M1625L probably benign Het
Myh3 G T 11: 66,981,847 (GRCm39) R781L probably benign Het
Nckap5 A T 1: 125,953,786 (GRCm39) I922K probably benign Het
Nlrp5 T A 7: 23,117,059 (GRCm39) M261K probably damaging Het
Or1e1d-ps1 G A 11: 73,819,663 (GRCm39) M204I probably benign Het
Or4f47 A T 2: 111,972,514 (GRCm39) S75C possibly damaging Het
Or5af1 T A 11: 58,722,750 (GRCm39) Y257N probably damaging Het
Or8g52 A G 9: 39,630,906 (GRCm39) N128D probably benign Het
Pak1 T A 7: 97,538,179 (GRCm39) V262E probably benign Het
Pigw A T 11: 84,767,930 (GRCm39) D466E probably damaging Het
Pira2 A T 7: 3,847,344 (GRCm39) L115Q probably damaging Het
Rbm15 A C 3: 107,240,432 (GRCm39) probably benign Het
Rfx1 A G 8: 84,800,385 (GRCm39) probably benign Het
Rfx7 A G 9: 72,500,639 (GRCm39) Y133C probably damaging Het
Serpinb9d T A 13: 33,384,702 (GRCm39) D226E probably benign Het
Sgk3 G A 1: 9,954,701 (GRCm39) A271T possibly damaging Het
Sh2d5 T A 4: 137,984,150 (GRCm39) C173S probably benign Het
Skint8 T C 4: 111,796,769 (GRCm39) V291A probably benign Het
Slc22a27 T A 19: 7,904,054 (GRCm39) N28Y probably benign Het
Slc25a54 G A 3: 109,023,751 (GRCm39) V449I probably benign Het
Slc39a9 T C 12: 80,726,316 (GRCm39) F255S probably damaging Het
Spata31d1c C T 13: 65,183,942 (GRCm39) H495Y probably damaging Het
Stab2 G A 10: 86,805,049 (GRCm39) Q310* probably null Het
Supt16 C A 14: 52,408,948 (GRCm39) A809S possibly damaging Het
Tenm3 A T 8: 48,689,212 (GRCm39) M2125K possibly damaging Het
Tex2 G A 11: 106,439,685 (GRCm39) T565M unknown Het
Tll1 G A 8: 64,478,176 (GRCm39) A859V probably damaging Het
Tmem106c C T 15: 97,867,512 (GRCm39) T232I possibly damaging Het
Trim65 T G 11: 116,019,116 (GRCm39) D141A probably benign Het
Trim80 T C 11: 115,332,042 (GRCm39) F78S probably damaging Het
Txnrd1 T A 10: 82,709,051 (GRCm39) I83N probably benign Het
Vnn3 G A 10: 23,727,806 (GRCm39) G72D probably benign Het
Wasl G T 6: 24,619,686 (GRCm39) P278Q unknown Het
Wdr62 A T 7: 29,943,342 (GRCm39) L951Q probably damaging Het
Zfp760 C T 17: 21,942,814 (GRCm39) T663I unknown 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
R5153:Cep350 UTSW 1 155,811,692 (GRCm39) missense probably damaging 1.00
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
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'- GTTGTCTGAAGTAGCAGCACC -3'
(R):5'- TGTGTGCAAAGACAAGCATG -3'

Sequencing Primer
(F):5'- TGAAGTAGCAGCACCCGCAG -3'
(R):5'- GACAAGCATGGTATTTTTGCTCC -3'
Posted On 2019-09-13