Incidental Mutation 'R4557:Cep68'
ID341914
Institutional Source Beutler Lab
Gene Symbol Cep68
Ensembl Gene ENSMUSG00000044066
Gene Namecentrosomal protein 68
Synonyms
MMRRC Submission 041784-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.123) question?
Stock #R4557 (G1)
Quality Score225
Status Validated
Chromosome11
Chromosomal Location20227037-20249429 bp(-) (GRCm38)
Type of Mutationintron
DNA Base Change (assembly) A to T at 20239113 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000105225 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050611] [ENSMUST00000109596] [ENSMUST00000162811]
Predicted Effect probably benign
Transcript: ENSMUST00000050611
SMART Domains Protein: ENSMUSP00000054943
Gene: ENSMUSG00000044066

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
SMART Domains Protein: ENSMUSP00000105225
Gene: ENSMUSG00000044066

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 unknown
Transcript: ENSMUST00000162811
AA Change: I633K
SMART Domains Protein: ENSMUSP00000125113
Gene: ENSMUSG00000044066
AA Change: I633K

DomainStartEndE-ValueType
low complexity region 178 190 N/A INTRINSIC
low complexity region 311 325 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 98% (49/50)
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830005F24Rik T C 13: 48,514,461 probably benign Het
Acad11 T C 9: 104,082,839 F219L probably benign Het
Adamts16 G A 13: 70,779,518 probably benign Het
Adamts17 A T 7: 67,027,893 E518D probably damaging Het
Adamts3 A G 5: 89,700,487 Y659H probably benign Het
Adgrb3 T C 1: 25,084,279 R1414G probably damaging Het
Apba1 T A 19: 23,917,592 I464N probably damaging Het
Bahcc1 A G 11: 120,275,088 T1057A probably damaging Het
Bcl11a A G 11: 24,164,004 E449G probably damaging Het
Ccdc162 T A 10: 41,587,388 I1453L probably benign Het
Ccdc175 T A 12: 72,128,306 E531V probably benign Het
Dlgap1 C A 17: 70,516,689 T223K probably benign Het
Exoc1 G A 5: 76,561,443 V24M probably damaging Het
Fbxo4 A G 15: 3,965,705 *386R probably null Het
Gm10100 G A 10: 77,726,531 probably benign Het
Gpr149 A G 3: 62,530,870 V622A probably damaging Het
Gpr149 A C 3: 62,604,497 M27R probably benign Het
Ighv3-6 T C 12: 114,288,198 N101D probably benign Het
Igkv4-78 A G 6: 69,059,771 S93P possibly damaging Het
Kmt2c A T 5: 25,300,315 W3332R probably damaging Het
Marf1 T C 16: 14,153,977 probably benign Het
Mcrs1 A G 15: 99,243,147 I459T probably benign Het
Mdn1 G T 4: 32,754,437 C4646F probably damaging Het
Med17 T C 9: 15,271,697 K351E possibly damaging Het
Nalcn T C 14: 123,321,235 probably benign Het
Olfr389 G A 11: 73,776,481 T282I possibly damaging Het
Olfr398 A T 11: 73,984,599 V3E probably benign Het
Olfr761 C A 17: 37,952,251 A258S probably benign Het
Olfr816 A G 10: 129,911,529 Y250H probably damaging Het
Phrf1 C T 7: 141,258,929 probably benign Het
Pitpnm1 A G 19: 4,103,085 Q135R probably benign Het
Prdm16 T A 4: 154,528,827 M48L probably benign Het
Ptpn13 A G 5: 103,541,110 E923G probably damaging Het
Rp1 A T 1: 4,344,663 S2075R possibly damaging Het
Sft2d2 A G 1: 165,183,984 C114R probably damaging Het
Sipa1l2 T G 8: 125,464,415 R945S probably damaging Het
Slc12a1 A G 2: 125,186,641 N517S probably damaging Het
Slc44a2 T G 9: 21,346,783 L443R possibly damaging Het
Smok4a T C 17: 13,526,381 noncoding transcript Het
Snx18 A G 13: 113,617,828 S190P probably damaging Het
Thap12 A G 7: 98,715,845 N407D probably benign Het
Tmc5 T C 7: 118,670,733 I902T probably benign Het
Ttc27 T G 17: 74,829,549 S584A probably benign Het
Ttn A T 2: 76,949,015 Y1174N probably damaging Het
Zbtb44 T G 9: 31,064,248 S391R probably damaging Het
Other mutations in Cep68
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01617:Cep68 APN 11 20239510 missense probably benign 0.14
IGL02404:Cep68 APN 11 20240004 missense possibly damaging 0.89
IGL02441:Cep68 APN 11 20239186 missense probably benign 0.01
IGL02554:Cep68 APN 11 20240096 missense possibly damaging 0.61
IGL02732:Cep68 APN 11 20236109 unclassified probably benign
PIT4366001:Cep68 UTSW 11 20240007 missense probably benign 0.21
PIT4418001:Cep68 UTSW 11 20239731 missense probably benign
R0399:Cep68 UTSW 11 20230571 missense probably benign 0.10
R0792:Cep68 UTSW 11 20240652 missense possibly damaging 0.76
R0882:Cep68 UTSW 11 20239393 missense probably benign
R1163:Cep68 UTSW 11 20240539 missense probably damaging 0.99
R1869:Cep68 UTSW 11 20240217 missense probably damaging 1.00
R2023:Cep68 UTSW 11 20239888 missense probably benign
R2901:Cep68 UTSW 11 20240187 missense probably damaging 0.99
R2902:Cep68 UTSW 11 20240187 missense probably damaging 0.99
R4292:Cep68 UTSW 11 20240079 missense probably damaging 0.99
R4393:Cep68 UTSW 11 20238544 missense probably benign 0.01
R4581:Cep68 UTSW 11 20239333 missense probably benign 0.02
R4647:Cep68 UTSW 11 20239349 missense probably benign 0.00
R4887:Cep68 UTSW 11 20239239 missense probably benign 0.15
R5081:Cep68 UTSW 11 20238477 missense probably damaging 0.98
R5658:Cep68 UTSW 11 20241885 critical splice donor site probably null
R6380:Cep68 UTSW 11 20230498 missense probably benign
R7444:Cep68 UTSW 11 20239438 missense probably benign 0.01
R7455:Cep68 UTSW 11 20230571 missense probably damaging 0.99
R7486:Cep68 UTSW 11 20242166 missense probably benign 0.05
R8075:Cep68 UTSW 11 20239335 missense probably benign 0.01
R8388:Cep68 UTSW 11 20230582 missense probably damaging 1.00
R8407:Cep68 UTSW 11 20240446 missense possibly damaging 0.62
R8501:Cep68 UTSW 11 20239132 missense unknown
Predicted Primers PCR Primer
(F):5'- CGACCACTAAACTTTCTCTGCAG -3'
(R):5'- TCGGGGTCTCTTCAAAACCAC -3'

Sequencing Primer
(F):5'- ACTAAACTTTCTCTGCAGAAAAGC -3'
(R):5'- GGGGTCTCTTCAAAACCACTGAAAAC -3'
Posted On2015-09-24