Incidental Mutation 'R5650:Cep76'
ID 441401
Institutional Source Beutler Lab
Gene Symbol Cep76
Ensembl Gene ENSMUSG00000073542
Gene Name centrosomal protein 76
Synonyms 6230425F05Rik
MMRRC Submission 043296-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5650 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 67750870-67774406 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 67758136 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 385 (C385S)
Ref Sequence ENSEMBL: ENSMUSP00000095149 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097542]
AlphaFold Q0VEJ0
Predicted Effect probably damaging
Transcript: ENSMUST00000097542
AA Change: C385S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095149
Gene: ENSMUSG00000073542
AA Change: C385S

DomainStartEndE-ValueType
Pfam:CEP76-C2 99 258 4.1e-64 PFAM
low complexity region 383 393 N/A INTRINSIC
low complexity region 553 564 N/A INTRINSIC
Blast:KIND 604 654 2e-27 BLAST
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.9%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a centrosomal protein which regulates centriole amplification by limiting centriole duplication to once per cell cycle. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alms1 T C 6: 85,597,253 (GRCm39) L693P probably damaging Het
Ankrd11 T C 8: 123,614,136 (GRCm39) T2524A probably damaging Het
Cdr2 A G 7: 120,557,559 (GRCm39) I322T probably damaging Het
Cercam C T 2: 29,771,827 (GRCm39) S549F probably damaging Het
Coro1b C T 19: 4,200,610 (GRCm39) T209I possibly damaging Het
Dlec1 G T 9: 118,972,662 (GRCm39) E1462* probably null Het
Dlgap5 C T 14: 47,649,196 (GRCm39) G166D probably benign Het
Ep400 C T 5: 110,843,818 (GRCm39) probably null Het
Fam3d A T 14: 8,357,142 (GRCm38) V96E probably damaging Het
Fgr T G 4: 132,727,533 (GRCm39) V478G probably benign Het
Fmo9 T A 1: 166,491,015 (GRCm39) I437F probably damaging Het
Gabrd A T 4: 155,473,081 (GRCm39) V64E probably damaging Het
Gsap A G 5: 21,456,051 (GRCm39) Y385C probably damaging Het
H4c4 A T 13: 23,765,778 (GRCm39) N65I possibly damaging Het
Hat1 T C 2: 71,264,378 (GRCm39) V272A probably benign Het
Helz T A 11: 107,485,972 (GRCm39) M127K probably null Het
Hsp90b1 G A 10: 86,529,367 (GRCm39) A310V probably damaging Het
Hspa4 T C 11: 53,155,919 (GRCm39) Y662C probably damaging Het
Kif7 C T 7: 79,360,727 (GRCm39) R216H probably damaging Het
Klhl33 A G 14: 51,129,285 (GRCm39) I648T probably benign Het
Knl1 T A 2: 118,912,031 (GRCm39) L1716* probably null Het
Lgals9 T A 11: 78,863,980 (GRCm39) N55I probably damaging Het
Lmo7 A T 14: 102,136,110 (GRCm39) T606S probably damaging Het
Mdn1 A G 4: 32,667,467 (GRCm39) probably null Het
Mip A T 10: 128,061,934 (GRCm39) I62F possibly damaging Het
Naa35 G A 13: 59,770,680 (GRCm39) probably benign Het
Npepl1 T C 2: 173,963,329 (GRCm39) F454L possibly damaging Het
Or10h28 A T 17: 33,487,858 (GRCm39) E53D probably benign Het
Or1j21 T A 2: 36,683,277 (GRCm39) S10T probably benign Het
Or5ae1 T A 7: 84,565,626 (GRCm39) I213N possibly damaging Het
Or8b1b A T 9: 38,376,023 (GRCm39) K229* probably null Het
Oxct1 T A 15: 4,172,332 (GRCm39) V466D probably damaging Het
Piezo2 T A 18: 63,144,792 (GRCm39) I2768F probably damaging Het
Pitpnm1 C A 19: 4,153,319 (GRCm39) D158E possibly damaging Het
Plekho2 T C 9: 65,464,018 (GRCm39) N277S probably benign Het
Rab33b T C 3: 51,400,837 (GRCm39) Y104H probably damaging Het
Rpap1 T C 2: 119,604,331 (GRCm39) S473G probably benign Het
Serpina1b T A 12: 103,694,694 (GRCm39) probably null Het
Slc25a17 A T 15: 81,213,377 (GRCm39) probably null Het
Slc43a2 T C 11: 75,436,633 (GRCm39) C160R probably damaging Het
Slc7a4 G T 16: 17,393,548 (GRCm39) L84M possibly damaging Het
Slco1a4 T A 6: 141,755,120 (GRCm39) I561F possibly damaging Het
Sowahc GGGAGGAGGAGGAGGAGGAGGAGGAGGA GGGAGGAGGAGGAGGAGGAGGAGGA 10: 59,059,313 (GRCm39) probably benign Het
Specc1 T C 11: 62,008,793 (GRCm39) I183T probably damaging Het
Sucla2 A G 14: 73,828,569 (GRCm39) K362E probably benign Het
Tcf12 A T 9: 71,792,584 (GRCm39) probably null Het
Tlr11 C T 14: 50,598,658 (GRCm39) P215S probably benign Het
Tmem41b A G 7: 109,574,072 (GRCm39) S198P probably damaging Het
Tubgcp3 A G 8: 12,698,670 (GRCm39) F427S probably damaging Het
Wdr81 T A 11: 75,335,574 (GRCm39) S1752C probably damaging Het
Zbtb7a A G 10: 80,980,883 (GRCm39) Y359C probably damaging Het
Zfp37 T C 4: 62,110,002 (GRCm39) Y354C probably damaging Het
Zmpste24 T A 4: 120,940,074 (GRCm39) I191F possibly damaging Het
Other mutations in Cep76
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01333:Cep76 APN 18 67,773,187 (GRCm39) missense probably benign 0.01
IGL01344:Cep76 APN 18 67,756,467 (GRCm39) missense possibly damaging 0.95
IGL02426:Cep76 APN 18 67,767,987 (GRCm39) missense probably benign
IGL02544:Cep76 APN 18 67,768,020 (GRCm39) splice site probably benign
IGL02711:Cep76 APN 18 67,771,406 (GRCm39) missense probably benign
IGL03283:Cep76 APN 18 67,773,139 (GRCm39) missense possibly damaging 0.76
R0117:Cep76 UTSW 18 67,759,744 (GRCm39) missense possibly damaging 0.91
R0450:Cep76 UTSW 18 67,767,850 (GRCm39) missense probably benign 0.30
R0469:Cep76 UTSW 18 67,767,850 (GRCm39) missense probably benign 0.30
R0587:Cep76 UTSW 18 67,756,245 (GRCm39) nonsense probably null
R0658:Cep76 UTSW 18 67,756,374 (GRCm39) missense probably damaging 1.00
R0667:Cep76 UTSW 18 67,767,848 (GRCm39) missense possibly damaging 0.85
R1508:Cep76 UTSW 18 67,756,358 (GRCm39) missense probably damaging 1.00
R1511:Cep76 UTSW 18 67,758,028 (GRCm39) missense probably benign
R4280:Cep76 UTSW 18 67,773,229 (GRCm39) missense probably benign 0.39
R4355:Cep76 UTSW 18 67,759,710 (GRCm39) missense probably benign 0.02
R4702:Cep76 UTSW 18 67,767,968 (GRCm39) missense possibly damaging 0.48
R4847:Cep76 UTSW 18 67,752,639 (GRCm39) missense probably benign 0.04
R5897:Cep76 UTSW 18 67,771,398 (GRCm39) missense probably benign 0.00
R6648:Cep76 UTSW 18 67,752,804 (GRCm39) missense probably benign 0.27
R7193:Cep76 UTSW 18 67,774,204 (GRCm39) missense possibly damaging 0.70
R7822:Cep76 UTSW 18 67,774,219 (GRCm39) nonsense probably null
R7846:Cep76 UTSW 18 67,762,975 (GRCm39) missense probably damaging 1.00
R8870:Cep76 UTSW 18 67,773,190 (GRCm39) missense probably benign 0.02
R8883:Cep76 UTSW 18 67,766,540 (GRCm39) missense probably benign 0.02
R9025:Cep76 UTSW 18 67,767,885 (GRCm39) missense probably damaging 1.00
R9221:Cep76 UTSW 18 67,767,977 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCATTATACTCCCCTTGGAAACTG -3'
(R):5'- GGGAGCATCATACAATCACCG -3'

Sequencing Primer
(F):5'- TTGGAAACTGAGCTCACTGACCTG -3'
(R):5'- AGTACACTGTAGCTGTCTTCAGAC -3'
Posted On 2016-11-08