Incidental Mutation 'IGL01544:Cep350'
ID 90259
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cep350
Ensembl Gene ENSMUSG00000033671
Gene Name centrosomal protein 350
Synonyms 4933409L06Rik, 6430546F08Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.961) question?
Stock # IGL01544
Quality Score
Status
Chromosome 1
Chromosomal Location 155720710-155849001 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 155828933 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 324 (V324L)
Ref Sequence ENSEMBL: ENSMUSP00000120085 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000124495] [ENSMUST00000138762]
AlphaFold no structure available at present
Predicted Effect noncoding transcript
Transcript: ENSMUST00000104231
Predicted Effect probably damaging
Transcript: ENSMUST00000124495
AA Change: V264L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000138762
AA Change: V324L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120085
Gene: ENSMUSG00000033671
AA Change: V324L

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
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arap3 G A 18: 38,123,889 (GRCm39) R377C probably damaging Het
Bbx C A 16: 50,095,140 (GRCm39) E59* probably null Het
Cep120 C T 18: 53,819,033 (GRCm39) R886H probably benign Het
Cry1 T A 10: 84,982,360 (GRCm39) K329* probably null Het
Dhtkd1 T C 2: 5,918,342 (GRCm39) N627S probably benign Het
Dpp8 A T 9: 64,962,270 (GRCm39) T437S probably benign Het
Elovl1 G A 4: 118,288,107 (GRCm39) probably null Het
Heca A G 10: 17,791,715 (GRCm39) Y114H probably damaging Het
Hrh4 A G 18: 13,148,950 (GRCm39) N104S probably benign Het
Ift80 T A 3: 68,898,115 (GRCm39) K73N probably benign Het
Ina T C 19: 47,003,948 (GRCm39) V252A possibly damaging Het
Klhl36 A G 8: 120,596,755 (GRCm39) E152G possibly damaging Het
Lamp5 T A 2: 135,910,990 (GRCm39) L241Q probably damaging Het
Lrp4 G A 2: 91,307,896 (GRCm39) R447H probably damaging Het
Mmp24 G A 2: 155,641,807 (GRCm39) G212R probably damaging Het
Mpp3 A G 11: 101,909,485 (GRCm39) V191A possibly damaging Het
Mtmr4 A G 11: 87,488,437 (GRCm39) probably benign Het
Mynn C A 3: 30,661,854 (GRCm39) S312* probably null Het
Neb T A 2: 52,182,917 (GRCm39) I1010F possibly damaging Het
Nes T C 3: 87,885,271 (GRCm39) S1177P possibly damaging Het
Noct T C 3: 51,155,469 (GRCm39) V79A probably damaging Het
Rad1 A G 15: 10,490,465 (GRCm39) D114G probably damaging Het
Slc26a9 T C 1: 131,687,233 (GRCm39) probably null Het
Sqor G A 2: 122,634,266 (GRCm39) probably benign Het
Sspo G T 6: 48,467,953 (GRCm39) W4309L probably damaging Het
Thoc7 A C 14: 13,953,435 (GRCm38) Y72D probably damaging Het
Thra A G 11: 98,647,754 (GRCm39) I43V possibly damaging Het
Timm44 G T 8: 4,325,888 (GRCm39) probably benign Het
Trmo C T 4: 46,386,169 (GRCm39) G119R probably damaging Het
Trpc4 T C 3: 54,209,567 (GRCm39) M644T probably damaging Het
Wdr72 C T 9: 74,056,007 (GRCm39) L300F probably damaging Het
Wrn T C 8: 33,814,554 (GRCm39) T54A probably benign 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
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
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
Posted On 2013-12-03