Incidental Mutation 'IGL01116:Cenpl'
ID 50301
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cenpl
Ensembl Gene ENSMUSG00000026708
Gene Name centromere protein L
Synonyms 2610300B10Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01116
Quality Score
Status
Chromosome 1
Chromosomal Location 160898337-160914294 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 160910857 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Isoleucine at position 268 (S268I)
Ref Sequence ENSEMBL: ENSMUSP00000107247 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028035] [ENSMUST00000111618] [ENSMUST00000111620] [ENSMUST00000143486] [ENSMUST00000192150] [ENSMUST00000192850] [ENSMUST00000194855] [ENSMUST00000195571]
AlphaFold Q3U3S3
Predicted Effect possibly damaging
Transcript: ENSMUST00000028035
AA Change: S268I

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000028035
Gene: ENSMUSG00000026708
AA Change: S268I

DomainStartEndE-ValueType
Pfam:CENP-L 177 327 3.3e-38 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000111618
AA Change: S268I

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000107245
Gene: ENSMUSG00000026708
AA Change: S268I

DomainStartEndE-ValueType
Pfam:CENP-L 177 327 5.4e-40 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000111620
AA Change: S268I

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000107247
Gene: ENSMUSG00000026708
AA Change: S268I

DomainStartEndE-ValueType
Pfam:CENP-L 178 325 1.2e-36 PFAM
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
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 T A 12: 118,849,911 (GRCm39) M951L probably benign Het
Als2 T C 1: 59,225,163 (GRCm39) probably benign Het
Arhgap26 T C 18: 39,244,856 (GRCm39) V167A probably damaging Het
Bbs1 A G 19: 4,952,867 (GRCm39) probably benign Het
Capn11 A T 17: 45,949,806 (GRCm39) probably benign Het
Coq8b T C 7: 26,939,282 (GRCm39) V144A possibly damaging Het
Exo1 T A 1: 175,728,963 (GRCm39) C10S possibly damaging Het
Fam193b A T 13: 55,691,266 (GRCm39) S203T probably damaging Het
Ggact T C 14: 123,129,167 (GRCm39) N16S probably damaging Het
Gm3940 A T 1: 52,129,882 (GRCm39) probably benign Het
Gm5458 G T 14: 19,649,760 (GRCm39) L155I probably damaging Het
Golm1 T C 13: 59,797,470 (GRCm39) K125R probably damaging Het
Gpatch4 A G 3: 87,962,312 (GRCm39) E175G probably damaging Het
Gria1 A G 11: 57,127,801 (GRCm39) N337D probably damaging Het
Gripap1 G A X: 7,678,705 (GRCm39) G464D probably benign Het
Grk1 A G 8: 13,455,404 (GRCm39) D96G possibly damaging Het
Hsf1 T C 15: 76,382,403 (GRCm39) V258A probably benign Het
Ighv7-4 A G 12: 114,186,653 (GRCm39) S40P probably damaging Het
Igkv4-50 G A 6: 69,677,921 (GRCm39) S61L probably benign Het
Igkv4-62 C T 6: 69,377,035 (GRCm39) G38E probably damaging Het
Ints1 T C 5: 139,757,437 (GRCm39) D358G probably damaging Het
Madd A G 2: 90,984,888 (GRCm39) probably benign Het
Map3k6 A G 4: 132,974,439 (GRCm39) S580G probably damaging Het
Myef2 A G 2: 124,940,402 (GRCm39) M383T probably damaging Het
Myo3b T C 2: 70,119,730 (GRCm39) L930P probably damaging Het
Ndufaf3 C T 9: 108,444,068 (GRCm39) R20Q probably benign Het
Npr2 T C 4: 43,640,248 (GRCm39) S328P probably damaging Het
Or1r1 A T 11: 73,875,144 (GRCm39) C97S probably damaging Het
Or4k15b T A 14: 50,272,507 (GRCm39) M118L probably benign Het
Pdpr T C 8: 111,839,342 (GRCm39) I155T possibly damaging Het
Phf11b A T 14: 59,560,631 (GRCm39) I216K probably benign Het
Phkg1 T C 5: 129,893,813 (GRCm39) probably null Het
Pik3r6 A G 11: 68,422,276 (GRCm39) Y225C probably benign Het
Plekhh2 A T 17: 84,914,356 (GRCm39) D1253V possibly damaging Het
Plppr3 T C 10: 79,702,757 (GRCm39) T155A probably damaging Het
Ppp6r2 T C 15: 89,166,192 (GRCm39) F732S probably damaging Het
Ryr1 A G 7: 28,799,627 (GRCm39) probably benign Het
Slc16a8 T G 15: 79,135,432 (GRCm39) S459R probably damaging Het
Slc25a12 A T 2: 71,123,696 (GRCm39) probably benign Het
Slc38a2 T C 15: 96,591,066 (GRCm39) probably benign Het
Slit1 C A 19: 41,594,824 (GRCm39) W1182L possibly damaging Het
Snx2 C T 18: 53,327,495 (GRCm39) probably benign Het
Sos1 A T 17: 80,752,929 (GRCm39) V335D probably damaging Het
St18 A G 1: 6,872,856 (GRCm39) D197G probably damaging Het
Ston2 G T 12: 91,615,522 (GRCm39) N295K possibly damaging Het
Stpg3 A G 2: 25,103,191 (GRCm39) probably benign Het
Tmem63a A G 1: 180,799,654 (GRCm39) I675V probably damaging Het
Vmn2r16 T A 5: 109,488,294 (GRCm39) L389Q probably damaging Het
Vps13d C A 4: 144,699,320 (GRCm39) probably benign Het
Wdfy4 A T 14: 32,681,934 (GRCm39) D3012E probably damaging Het
Other mutations in Cenpl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02479:Cenpl APN 1 160,910,637 (GRCm39) missense probably benign 0.00
IGL02884:Cenpl APN 1 160,913,619 (GRCm39) missense probably benign 0.37
R0193:Cenpl UTSW 1 160,913,558 (GRCm39) missense probably damaging 0.99
R1847:Cenpl UTSW 1 160,913,574 (GRCm39) missense probably damaging 0.99
R1995:Cenpl UTSW 1 160,905,994 (GRCm39) missense probably damaging 1.00
R2986:Cenpl UTSW 1 160,911,037 (GRCm39) unclassified probably benign
R3706:Cenpl UTSW 1 160,905,985 (GRCm39) missense probably damaging 1.00
R4739:Cenpl UTSW 1 160,910,837 (GRCm39) missense probably damaging 1.00
R5193:Cenpl UTSW 1 160,911,037 (GRCm39) nonsense probably null
R6321:Cenpl UTSW 1 160,902,465 (GRCm39) missense probably benign 0.00
R7145:Cenpl UTSW 1 160,910,482 (GRCm39) missense possibly damaging 0.93
R7382:Cenpl UTSW 1 160,906,031 (GRCm39) missense probably benign
R8795:Cenpl UTSW 1 160,910,584 (GRCm39) missense probably benign 0.05
Posted On 2013-06-21