Incidental Mutation 'R5193:Cenpl'
ID 399801
Institutional Source Beutler Lab
Gene Symbol Cenpl
Ensembl Gene ENSMUSG00000026708
Gene Name centromere protein L
Synonyms 2610300B10Rik
MMRRC Submission 042769-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5193 (G1)
Quality Score 205
Status Not validated
Chromosome 1
Chromosomal Location 160898337-160914294 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to A at 160911037 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Stop codon at position 328 (S328*)
Ref Sequence ENSEMBL: ENSMUSP00000028035 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028035] [ENSMUST00000111611] [ENSMUST00000111618] [ENSMUST00000111620] [ENSMUST00000117467] [ENSMUST00000194855] [ENSMUST00000143486] [ENSMUST00000195571] [ENSMUST00000195584] [ENSMUST00000192150] [ENSMUST00000192850]
AlphaFold Q3U3S3
Predicted Effect probably null
Transcript: ENSMUST00000028035
AA Change: S328*
SMART Domains Protein: ENSMUSP00000028035
Gene: ENSMUSG00000026708
AA Change: S328*

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
SMART Domains Protein: ENSMUSP00000107245
Gene: ENSMUSG00000026708

DomainStartEndE-ValueType
Pfam:CENP-L 177 327 5.4e-40 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111620
SMART Domains Protein: ENSMUSP00000107247
Gene: ENSMUSG00000026708

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 noncoding transcript
Transcript: ENSMUST00000155808
Predicted Effect probably benign
Transcript: ENSMUST00000194855
Predicted Effect probably benign
Transcript: ENSMUST00000143486
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
Predicted Effect probably benign
Transcript: ENSMUST00000192150
Predicted Effect probably benign
Transcript: ENSMUST00000192850
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.5%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd12 A T 2: 150,677,226 (GRCm39) *56R probably null Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Arfgap3 C T 15: 83,216,898 (GRCm39) A156T probably benign Het
Bpifc T C 10: 85,836,497 (GRCm39) T3A probably benign Het
Ccdc7a T A 8: 129,715,278 (GRCm39) I269L probably benign Het
Cd151 A G 7: 141,050,606 (GRCm39) Y253C probably damaging Het
Cfl1 T A 19: 5,542,580 (GRCm39) V20D probably damaging Het
Clec14a A G 12: 58,315,400 (GRCm39) L74P probably damaging Het
Cnn1 A T 9: 22,019,132 (GRCm39) D196V probably damaging Het
Cst13 C A 2: 148,670,143 (GRCm39) C104* probably null Het
Det1 A G 7: 78,493,302 (GRCm39) V234A probably damaging Het
Efnb2 A G 8: 8,673,162 (GRCm39) M165T probably damaging Het
Fbxo10 T A 4: 45,051,573 (GRCm39) K339* probably null Het
Fnta A T 8: 26,501,246 (GRCm39) probably null Het
Fsip2 A T 2: 82,813,338 (GRCm39) Y3219F possibly damaging Het
Gprin2 C T 14: 33,916,832 (GRCm39) V313M possibly damaging Het
Hars1 A G 18: 36,900,358 (GRCm39) L448S possibly damaging Het
Hipk3 A G 2: 104,260,345 (GRCm39) I1166T possibly damaging Het
Il31ra T C 13: 112,660,864 (GRCm39) E602G probably benign Het
Kctd15 A G 7: 34,344,282 (GRCm39) L123P probably damaging Het
Kifbp T C 10: 62,395,175 (GRCm39) D489G possibly damaging Het
Krt1 C A 15: 101,754,357 (GRCm39) S631I unknown Het
Lancl1 T A 1: 67,060,173 (GRCm39) Y84F probably benign Het
Lcor A G 19: 41,570,969 (GRCm39) D54G probably damaging Het
Mafa G T 15: 75,619,666 (GRCm39) P36T unknown Het
Magi2 G A 5: 20,563,970 (GRCm39) probably null Het
Mcm9 T A 10: 53,492,134 (GRCm39) I396F probably damaging Het
Mrgprh T C 17: 13,095,942 (GRCm39) F61L probably damaging Het
Or10g1b A G 14: 52,628,069 (GRCm39) W54R probably benign Het
Or1e16 TAGCGGTCGTA T 11: 73,286,479 (GRCm39) probably null Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or51a7 T A 7: 102,615,143 (GRCm39) F279I possibly damaging Het
Or5w17 A T 2: 87,583,448 (GRCm39) D296E possibly damaging Het
Pcsk5 T A 19: 17,542,174 (GRCm39) T806S possibly damaging Het
Pigc T C 1: 161,798,465 (GRCm39) I149T possibly damaging Het
Pou5f2 C A 13: 78,173,083 (GRCm39) N8K probably benign Het
Pou6f2 T C 13: 18,300,129 (GRCm39) probably benign Het
Prl3d2 T A 13: 27,306,312 (GRCm39) M13K possibly damaging Het
Pzp T C 6: 128,479,297 (GRCm39) N619D probably benign Het
Rnps1 G A 17: 24,637,517 (GRCm39) S53N probably benign Het
Scaf8 C G 17: 3,240,440 (GRCm39) A604G probably benign Het
Scn10a T C 9: 119,438,721 (GRCm39) N1716S probably damaging Het
Slc22a30 G A 19: 8,321,757 (GRCm39) Q436* probably null Het
Slc34a1 A G 13: 24,003,845 (GRCm39) probably null Het
Syne2 A G 12: 76,141,194 (GRCm39) D6102G probably damaging Het
Tbc1d16 A T 11: 119,049,646 (GRCm39) D283E probably benign Het
Tet1 T C 10: 62,674,026 (GRCm39) D1350G probably benign Het
Trpa1 A G 1: 14,946,141 (GRCm39) Y997H possibly damaging Het
Tyro3 T C 2: 119,640,998 (GRCm39) L494P probably damaging Het
Uba6 G T 5: 86,272,281 (GRCm39) Q803K probably benign Het
Vgll2 T A 10: 51,904,088 (GRCm39) L317Q possibly damaging Het
Wdr62 A T 7: 29,964,592 (GRCm39) I384N probably damaging Het
Wdtc1 G A 4: 133,021,678 (GRCm39) R619* probably null Het
Xkr6 A G 14: 64,056,356 (GRCm39) D89G possibly damaging Het
Other mutations in Cenpl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01116:Cenpl APN 1 160,910,857 (GRCm39) missense possibly damaging 0.94
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
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
Predicted Primers PCR Primer
(F):5'- AGTGTCCACAAAACCCCTGG -3'
(R):5'- ACCAGCTCTAAGTGGCTAAAGC -3'

Sequencing Primer
(F):5'- AGCCACAAGATTGGTTCG -3'
(R):5'- GCTACACAGAGAAACCCTG -3'
Posted On 2016-07-06