Incidental Mutation 'R4292:Cep68'
ID 323127
Institutional Source Beutler Lab
Gene Symbol Cep68
Ensembl Gene ENSMUSG00000044066
Gene Name centrosomal protein 68
Synonyms 6030463E10Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.140) question?
Stock # R4292 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 20177037-20199424 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 20190079 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 311 (V311D)
Ref Sequence ENSEMBL: ENSMUSP00000125113 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050611] [ENSMUST00000109596] [ENSMUST00000162811]
AlphaFold Q8C0D9
Predicted Effect possibly damaging
Transcript: ENSMUST00000050611
AA Change: V311D

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000054943
Gene: ENSMUSG00000044066
AA Change: V311D

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 possibly damaging
Transcript: ENSMUST00000109596
AA Change: V311D

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000105225
Gene: ENSMUSG00000044066
AA Change: V311D

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 noncoding transcript
Transcript: ENSMUST00000161218
Predicted Effect probably damaging
Transcript: ENSMUST00000162811
AA Change: V311D

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000125113
Gene: ENSMUSG00000044066
AA Change: V311D

DomainStartEndE-ValueType
low complexity region 178 190 N/A INTRINSIC
low complexity region 311 325 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts9 T C 6: 92,772,977 (GRCm39) K1232E possibly damaging Het
Angel1 A G 12: 86,767,057 (GRCm39) Y440H probably damaging Het
Bclaf1 A G 10: 20,199,524 (GRCm39) Q20R probably damaging Het
Bivm A T 1: 44,177,793 (GRCm39) R364S probably damaging Het
Brwd1 G A 16: 95,818,804 (GRCm39) P1343S probably damaging Het
Cckar A G 5: 53,863,839 (GRCm39) S41P probably benign Het
Cip2a T A 16: 48,833,612 (GRCm39) F571Y probably benign Het
Fhdc1 C A 3: 84,352,133 (GRCm39) V1031F probably benign Het
Gcn1 G A 5: 115,714,207 (GRCm39) A116T possibly damaging Het
Gucy1a1 A T 3: 82,002,066 (GRCm39) F671Y possibly damaging Het
Hddc2 A T 10: 31,190,583 (GRCm39) M48L possibly damaging Het
Kif18a A T 2: 109,128,471 (GRCm39) I376L probably damaging Het
Lbr C T 1: 181,648,267 (GRCm39) C398Y probably damaging Het
Myh2 A G 11: 67,085,723 (GRCm39) K1855R possibly damaging Het
Or2v2 T A 11: 49,004,254 (GRCm39) I100L probably benign Het
Or5b98 G A 19: 12,931,520 (GRCm39) C189Y possibly damaging Het
Or8d2b A G 9: 38,788,609 (GRCm39) I46V probably damaging Het
Pcdhb5 T A 18: 37,455,734 (GRCm39) S705T possibly damaging Het
Pdss2 A G 10: 43,097,834 (GRCm39) Y26C probably benign Het
Pgm2l1 A G 7: 99,899,508 (GRCm39) T41A probably damaging Het
Prss58 T C 6: 40,874,244 (GRCm39) D144G probably damaging Het
Rrp12 T C 19: 41,861,344 (GRCm39) probably null Het
Sash1 A G 10: 8,606,006 (GRCm39) S795P possibly damaging Het
Sec16a A G 2: 26,312,167 (GRCm39) Y1998H probably benign Het
Slc22a21 T C 11: 53,860,329 (GRCm39) D34G probably damaging Het
Slco4c1 C G 1: 96,772,381 (GRCm39) probably null Het
Srsf6 T C 2: 162,776,636 (GRCm39) probably benign Het
Tgfb2 T C 1: 186,364,735 (GRCm39) H253R probably damaging Het
Top3b A T 16: 16,701,383 (GRCm39) I232F probably damaging Het
Trim24 G A 6: 37,877,627 (GRCm39) R39H possibly damaging Het
Tsc22d1 T A 14: 76,656,320 (GRCm39) M851K probably benign Het
Ttn A G 2: 76,762,855 (GRCm39) V3268A possibly damaging Het
Unc79 A T 12: 103,149,703 (GRCm39) Q2599L probably damaging Het
Vmn1r192 T A 13: 22,371,465 (GRCm39) I252F probably damaging Het
Vwce A G 19: 10,636,996 (GRCm39) T693A probably benign 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
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
R7444:Cep68 UTSW 11 20,189,438 (GRCm39) missense probably benign 0.01
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'- ATGACAAGCTTGTGCCACC -3'
(R):5'- TACAGGCCTGGGTAAGAGAC -3'

Sequencing Primer
(F):5'- GTGCCACCCTGTTTCTGGAATATTC -3'
(R):5'- CTCCTTTCAGGCAGAATACTGGG -3'
Posted On 2015-06-20