Incidental Mutation 'R7444:Cep68'
ID 577179
Institutional Source Beutler Lab
Gene Symbol Cep68
Ensembl Gene ENSMUSG00000044066
Gene Name centrosomal protein 68
Synonyms 6030463E10Rik
MMRRC Submission 045520-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.140) question?
Stock # R7444 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 20177037-20199424 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 20189438 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 525 (S525P)
Ref Sequence ENSEMBL: ENSMUSP00000054943 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050611] [ENSMUST00000109596] [ENSMUST00000162811]
AlphaFold Q8C0D9
Predicted Effect probably benign
Transcript: ENSMUST00000050611
AA Change: S525P

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000054943
Gene: ENSMUSG00000044066
AA Change: S525P

DomainStartEndE-ValueType
low complexity region 178 190 N/A INTRINSIC
low complexity region 311 325 N/A INTRINSIC
SPEC 605 706 1.28e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109596
AA Change: S525P

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000105225
Gene: ENSMUSG00000044066
AA Change: S525P

DomainStartEndE-ValueType
low complexity region 178 190 N/A INTRINSIC
low complexity region 311 325 N/A INTRINSIC
SCOP:d1quua1 594 648 1e-2 SMART
Blast:SPEC 605 646 6e-21 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000162811
AA Change: S525P

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000125113
Gene: ENSMUSG00000044066
AA Change: S525P

DomainStartEndE-ValueType
low complexity region 178 190 N/A INTRINSIC
low complexity region 311 325 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak A G 19: 8,984,787 (GRCm39) M2024V probably benign Het
Ahnak2 T A 12: 112,745,831 (GRCm39) Q1673L Het
Atic G T 1: 71,602,946 (GRCm39) V107L probably benign Het
B2m A G 2: 121,981,416 (GRCm39) N44D probably damaging Het
Bud13 A G 9: 46,209,799 (GRCm39) D636G probably damaging Het
Cenpk T C 13: 104,386,025 (GRCm39) *307Q probably null Het
Clca3a1 A G 3: 144,733,193 (GRCm39) L105P probably damaging Het
Cntnap5a A T 1: 116,220,079 (GRCm39) M630L probably benign Het
Cpb2 A G 14: 75,520,782 (GRCm39) Y399C probably damaging Het
Dars2 G T 1: 160,874,454 (GRCm39) P412T possibly damaging Het
E2f8 A T 7: 48,517,927 (GRCm39) I665N probably damaging Het
Epha4 A T 1: 77,364,553 (GRCm39) I652N probably damaging Het
Ermn ACTTCTTCTTCTTCTTCTTCTTC ACTTCTTCTTCTTCTTCTTC 2: 57,938,079 (GRCm39) probably benign Het
Flrt3 T C 2: 140,502,387 (GRCm39) T414A probably benign Het
Fmn1 A T 2: 113,271,956 (GRCm39) Q108L unknown Het
Fosb T C 7: 19,041,199 (GRCm39) D98G possibly damaging Het
Gm5773 T C 3: 93,680,850 (GRCm39) L174S probably damaging Het
Hectd3 T A 4: 116,854,124 (GRCm39) V258E possibly damaging Het
Inf2 T A 12: 112,571,821 (GRCm39) W617R unknown Het
Irf7 T A 7: 140,843,599 (GRCm39) I358F probably damaging Het
Lipo3 A G 19: 33,535,663 (GRCm39) probably null Het
Lrig2 A T 3: 104,404,829 (GRCm39) L93* probably null Het
Lzts1 C T 8: 69,588,331 (GRCm39) V542M probably damaging Het
Mefv T A 16: 3,533,386 (GRCm39) H295L probably benign Het
Naf1 GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC 8: 67,313,200 (GRCm39) probably benign Het
Nat8f6 G C 6: 85,786,112 (GRCm39) S12R probably benign Het
Nipal4 G T 11: 46,057,062 (GRCm39) N14K probably benign Het
Nlrp4c T A 7: 6,095,595 (GRCm39) C824* probably null Het
Npat T C 9: 53,460,210 (GRCm39) S53P probably damaging Het
Nrxn3 A G 12: 89,477,464 (GRCm39) E549G probably damaging Het
Or10a5 T C 7: 106,635,554 (GRCm39) L64P probably damaging Het
Or12e8 T A 2: 87,188,444 (GRCm39) L219I possibly damaging Het
Or1r1 T C 11: 73,874,576 (GRCm39) N286S probably damaging Het
Or4a80 T C 2: 89,583,103 (GRCm39) K23R probably benign Het
Or4f62 A T 2: 111,987,060 (GRCm39) I255F probably damaging Het
Or5p55 T A 7: 107,566,811 (GRCm39) V69E probably damaging Het
Or6c6b T C 10: 129,147,559 (GRCm39) M61T probably benign Het
Or6z6 C A 7: 6,490,919 (GRCm39) W311L probably benign Het
Pcdhb11 T A 18: 37,555,672 (GRCm39) I334K probably damaging Het
Pcdhb4 T C 18: 37,442,505 (GRCm39) L605P probably damaging Het
Pced1a G T 2: 130,263,979 (GRCm39) H224Q probably damaging Het
Pde6b C A 5: 108,575,008 (GRCm39) S623* probably null Het
Pgr T C 9: 8,946,883 (GRCm39) L708P probably damaging Het
Pnpla1 T C 17: 29,097,455 (GRCm39) I207T possibly damaging Het
Prkag3 A T 1: 74,786,425 (GRCm39) D173E probably benign Het
Prrt4 A G 6: 29,176,516 (GRCm39) F270L probably benign Het
Ptdss2 C A 7: 140,732,997 (GRCm39) P260Q possibly damaging Het
Rftn1 T A 17: 50,354,435 (GRCm39) N309I probably damaging Het
Rgs12 T C 5: 35,183,287 (GRCm39) V978A possibly damaging Het
Rnf111 T C 9: 70,348,125 (GRCm39) Y816C probably damaging Het
Rnf208 C T 2: 25,133,326 (GRCm39) P7S probably damaging Het
Rnf24 T C 2: 131,155,215 (GRCm39) D4G probably damaging Het
Ryr2 T A 13: 11,570,349 (GRCm39) I4925L probably benign Het
S1pr5 A T 9: 21,156,378 (GRCm39) V16D possibly damaging Het
Scgb1b24 A G 7: 33,443,566 (GRCm39) D75G possibly damaging Het
Setdb2 A T 14: 59,660,794 (GRCm39) C116* probably null Het
Sh3rf2 G A 18: 42,234,604 (GRCm39) R129Q probably damaging Het
Spata31d1d C T 13: 59,875,007 (GRCm39) V843I probably benign Het
Steap3 A C 1: 120,169,248 (GRCm39) F350V probably benign Het
Tecrl T A 5: 83,502,915 (GRCm39) probably benign Het
Tex15 T A 8: 34,066,590 (GRCm39) S2007T possibly damaging Het
Tomm7 C A 5: 24,049,155 (GRCm39) probably benign Het
Trpv1 A C 11: 73,135,030 (GRCm39) N409T possibly damaging Het
Try5 T A 6: 41,288,299 (GRCm39) Y218F probably benign Het
Tspan5 A T 3: 138,603,883 (GRCm39) I196F possibly damaging Het
Wdhd1 A T 14: 47,489,405 (GRCm39) C709* probably null Het
Other mutations in Cep68
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01617:Cep68 APN 11 20,189,510 (GRCm39) missense probably benign 0.14
IGL02404:Cep68 APN 11 20,190,004 (GRCm39) missense possibly damaging 0.89
IGL02441:Cep68 APN 11 20,189,186 (GRCm39) missense probably benign 0.01
IGL02554:Cep68 APN 11 20,190,096 (GRCm39) missense possibly damaging 0.61
IGL02732:Cep68 APN 11 20,186,109 (GRCm39) unclassified probably benign
PIT4366001:Cep68 UTSW 11 20,190,007 (GRCm39) missense probably benign 0.21
PIT4418001:Cep68 UTSW 11 20,189,731 (GRCm39) missense probably benign
R0399:Cep68 UTSW 11 20,180,571 (GRCm39) missense probably benign 0.10
R0792:Cep68 UTSW 11 20,190,652 (GRCm39) missense possibly damaging 0.76
R0882:Cep68 UTSW 11 20,189,393 (GRCm39) missense probably benign
R1163:Cep68 UTSW 11 20,190,539 (GRCm39) missense probably damaging 0.99
R1869:Cep68 UTSW 11 20,190,217 (GRCm39) missense probably damaging 1.00
R2023:Cep68 UTSW 11 20,189,888 (GRCm39) missense probably benign
R2901:Cep68 UTSW 11 20,190,187 (GRCm39) missense probably damaging 0.99
R2902:Cep68 UTSW 11 20,190,187 (GRCm39) missense probably damaging 0.99
R4292:Cep68 UTSW 11 20,190,079 (GRCm39) missense probably damaging 0.99
R4393:Cep68 UTSW 11 20,188,544 (GRCm39) missense probably benign 0.01
R4557:Cep68 UTSW 11 20,189,113 (GRCm39) intron probably benign
R4581:Cep68 UTSW 11 20,189,333 (GRCm39) missense probably benign 0.02
R4647:Cep68 UTSW 11 20,189,349 (GRCm39) missense probably benign 0.00
R4887:Cep68 UTSW 11 20,189,239 (GRCm39) missense probably benign 0.15
R5081:Cep68 UTSW 11 20,188,477 (GRCm39) missense probably damaging 0.98
R5658:Cep68 UTSW 11 20,191,885 (GRCm39) critical splice donor site probably null
R6380:Cep68 UTSW 11 20,180,498 (GRCm39) missense probably benign
R7455:Cep68 UTSW 11 20,180,571 (GRCm39) missense probably damaging 0.99
R7486:Cep68 UTSW 11 20,192,166 (GRCm39) missense probably benign 0.05
R8075:Cep68 UTSW 11 20,189,335 (GRCm39) missense probably benign 0.01
R8388:Cep68 UTSW 11 20,180,582 (GRCm39) missense probably damaging 1.00
R8407:Cep68 UTSW 11 20,190,446 (GRCm39) missense possibly damaging 0.62
R8501:Cep68 UTSW 11 20,189,132 (GRCm39) missense unknown
R8830:Cep68 UTSW 11 20,180,418 (GRCm39) unclassified probably benign
R8980:Cep68 UTSW 11 20,190,390 (GRCm39) missense probably benign
R9354:Cep68 UTSW 11 20,188,569 (GRCm39) missense probably damaging 1.00
R9534:Cep68 UTSW 11 20,190,686 (GRCm39) missense probably benign 0.00
R9597:Cep68 UTSW 11 20,188,506 (GRCm39) missense probably benign 0.00
R9780:Cep68 UTSW 11 20,192,142 (GRCm39) missense probably benign 0.09
Predicted Primers PCR Primer
(F):5'- TACTAGCTCGGAGAACAGCC -3'
(R):5'- CTGGATGGCCATCAGAAGAG -3'

Sequencing Primer
(F):5'- AGCCGCCTGTCCGTCATG -3'
(R):5'- AGGAGTACCTTGCTCTGCC -3'
Posted On 2019-10-07