Incidental Mutation 'IGL02884:Cenpl'
ID362918
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cenpl
Ensembl Gene ENSMUSG00000026708
Gene Namecentromere protein L
Synonyms2610300B10Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.843) question?
Stock #IGL02884
Quality Score
Status
Chromosome1
Chromosomal Location161070713-161086724 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 161086049 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Arginine at position 343 (Q343R)
Ref Sequence ENSEMBL: ENSMUSP00000107247 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028035] [ENSMUST00000111611] [ENSMUST00000111618] [ENSMUST00000111620] [ENSMUST00000117467] [ENSMUST00000143486] [ENSMUST00000192150] [ENSMUST00000192850] [ENSMUST00000194855] [ENSMUST00000195571] [ENSMUST00000195584]
Predicted Effect probably benign
Transcript: ENSMUST00000028035
SMART Domains Protein: ENSMUSP00000028035
Gene: ENSMUSG00000026708

DomainStartEndE-ValueType
Pfam:CENP-L 177 327 3.3e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111611
SMART Domains Protein: ENSMUSP00000107238
Gene: ENSMUSG00000026705

DomainStartEndE-ValueType
BTB 63 160 2.73e-31 SMART
BACK 165 267 1.98e-41 SMART
Kelch 314 360 8.45e-16 SMART
Kelch 361 408 1.35e-14 SMART
Kelch 409 455 5.12e-15 SMART
Kelch 456 502 1.22e-12 SMART
Kelch 503 549 1.35e-14 SMART
Kelch 550 596 1.59e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000111618
AA Change: Q343R

PolyPhen 2 Score 0.369 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000107245
Gene: ENSMUSG00000026708
AA Change: Q343R

DomainStartEndE-ValueType
Pfam:CENP-L 177 327 5.4e-40 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111620
AA Change: Q343R

PolyPhen 2 Score 0.369 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000107247
Gene: ENSMUSG00000026708
AA Change: Q343R

DomainStartEndE-ValueType
Pfam:CENP-L 178 325 1.2e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000117467
SMART Domains Protein: ENSMUSP00000114044
Gene: ENSMUSG00000026705

DomainStartEndE-ValueType
BTB 63 160 2.73e-31 SMART
BACK 165 267 1.98e-41 SMART
Kelch 314 360 8.45e-16 SMART
Kelch 361 408 1.35e-14 SMART
Kelch 409 455 5.12e-15 SMART
Kelch 456 502 1.22e-12 SMART
Kelch 503 549 1.35e-14 SMART
Kelch 550 596 1.59e-11 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140905
Predicted Effect probably benign
Transcript: ENSMUST00000143486
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155808
Predicted Effect probably benign
Transcript: ENSMUST00000192150
Predicted Effect probably benign
Transcript: ENSMUST00000192850
Predicted Effect probably benign
Transcript: ENSMUST00000194855
Predicted Effect probably benign
Transcript: ENSMUST00000195571
Predicted Effect probably benign
Transcript: ENSMUST00000195584
SMART Domains Protein: ENSMUSP00000141213
Gene: ENSMUSG00000026705

DomainStartEndE-ValueType
Kelch 1 40 1.43e-4 SMART
Kelch 41 87 1.59e-11 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] CENPL is a subunit of a CENPH (MIM 605607)-CENPI (MIM 300065)-associated centromeric complex that targets CENPA (MIM 117139) to centromeres and is required for proper kinetochore function and mitotic progression (Okada et al., 2006) [PubMed 16622420].[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930438A08Rik A G 11: 58,287,476 I121V probably benign Het
Adprh C T 16: 38,446,034 V249I probably benign Het
Akap11 A T 14: 78,498,962 M1797K probably benign Het
Akap6 T A 12: 52,886,622 I299N probably benign Het
Akr1c12 A T 13: 4,272,212 M277K possibly damaging Het
Ankrd17 A T 5: 90,264,757 M1236K probably damaging Het
Arhgef11 A G 3: 87,728,006 D874G probably damaging Het
Atg4b T C 1: 93,787,715 probably benign Het
Bcl9 G A 3: 97,210,052 P442L probably damaging Het
Ccdc107 A T 4: 43,495,228 K98* probably null Het
Ccdc129 T C 6: 55,874,354 probably null Het
Cep104 T C 4: 153,989,862 C524R probably damaging Het
Clec3b C T 9: 123,156,762 T75I probably benign Het
Col13a1 A T 10: 61,905,285 probably benign Het
Crot C T 5: 8,978,197 probably null Het
Ddo G A 10: 40,637,364 V101I probably benign Het
Disp2 T C 2: 118,787,551 probably benign Het
Dnmt3b A C 2: 153,674,377 Y474S probably damaging Het
Dpp6 T A 5: 27,634,556 N298K possibly damaging Het
Fbf1 C T 11: 116,146,513 E940K probably damaging Het
Fgd6 A G 10: 94,045,639 probably benign Het
H2-M10.2 T C 17: 36,284,676 R241G probably damaging Het
Haghl A T 17: 25,783,098 F207Y possibly damaging Het
Helt G A 8: 46,292,583 R88C probably damaging Het
Igf2bp2 T C 16: 22,162,885 K27E probably benign Het
Il1b T C 2: 129,365,102 H246R probably benign Het
Kcnu1 C T 8: 25,921,528 S167L probably damaging Het
Kif16b A T 2: 142,702,614 probably benign Het
Myh7 A T 14: 54,992,819 S19T probably benign Het
Ncaph2 T C 15: 89,364,244 probably null Het
Nlrp4c T C 7: 6,098,952 L879P probably damaging Het
Nqo2 T A 13: 33,972,361 N19K probably damaging Het
Olfr456 C T 6: 42,486,606 V196M probably damaging Het
Osbpl1a C A 18: 12,819,578 G93* probably null Het
Pdxdc1 A G 16: 13,843,795 F459L possibly damaging Het
Phc2 A T 4: 128,708,016 H88L probably damaging Het
Pkd1l2 G A 8: 117,065,745 T436I probably benign Het
Ptchd4 A T 17: 42,502,449 T414S possibly damaging Het
Rab7b A G 1: 131,698,542 R103G probably damaging Het
Retnla A G 16: 48,842,580 Y3C probably benign Het
Samd7 G A 3: 30,756,173 R113H probably damaging Het
Shisa9 G A 16: 11,997,043 probably benign Het
Soat1 A T 1: 156,441,356 I208N possibly damaging Het
Stab1 C A 14: 31,150,143 probably null Het
Tti2 C T 8: 31,151,477 L210F possibly damaging Het
Ube2v2 A G 16: 15,556,485 V77A probably benign Het
Ubr5 T C 15: 37,998,376 E1617G probably damaging Het
Vmn2r16 T A 5: 109,360,891 I495K possibly damaging Het
Vwce G T 19: 10,646,579 R278L possibly damaging Het
Wdr26 C T 1: 181,182,784 A551T probably damaging Het
Wee1 A G 7: 110,126,062 I304V probably benign Het
Xrcc5 C T 1: 72,346,237 H496Y possibly damaging Het
Zfp142 G T 1: 74,571,983 S884R probably damaging Het
Other mutations in Cenpl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01116:Cenpl APN 1 161083287 missense possibly damaging 0.94
IGL02479:Cenpl APN 1 161083067 missense probably benign 0.00
R0193:Cenpl UTSW 1 161085988 missense probably damaging 0.99
R1847:Cenpl UTSW 1 161086004 missense probably damaging 0.99
R1995:Cenpl UTSW 1 161078424 missense probably damaging 1.00
R2986:Cenpl UTSW 1 161083467 unclassified probably benign
R3706:Cenpl UTSW 1 161078415 missense probably damaging 1.00
R4739:Cenpl UTSW 1 161083267 missense probably damaging 1.00
R5193:Cenpl UTSW 1 161083467 nonsense probably null
R6321:Cenpl UTSW 1 161074895 missense probably benign 0.00
R7145:Cenpl UTSW 1 161082912 missense possibly damaging 0.93
Posted On2015-12-18