Incidental Mutation 'R6380:Cep68'
ID515279
Institutional Source Beutler Lab
Gene Symbol Cep68
Ensembl Gene ENSMUSG00000044066
Gene Namecentrosomal protein 68
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.137) question?
Stock #R6380 (G1)
Quality Score225.009
Status Validated
Chromosome11
Chromosomal Location20227037-20249429 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 20230498 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Threonine at position 711 (M711T)
Ref Sequence ENSEMBL: ENSMUSP00000054943 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020358] [ENSMUST00000050611] [ENSMUST00000109602] [ENSMUST00000163483]
Predicted Effect probably benign
Transcript: ENSMUST00000020358
SMART Domains Protein: ENSMUSP00000020358
Gene: ENSMUSG00000020149

DomainStartEndE-ValueType
RAB 9 172 2.9e-107 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000050611
AA Change: M711T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000054943
Gene: ENSMUSG00000044066
AA Change: M711T

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: ENSMUST00000109602
SMART Domains Protein: ENSMUSP00000105231
Gene: ENSMUSG00000020149

DomainStartEndE-ValueType
Pfam:Ras 10 31 7.6e-6 PFAM
Pfam:Ras 29 107 8e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000163483
SMART Domains Protein: ENSMUSP00000127330
Gene: ENSMUSG00000020149

DomainStartEndE-ValueType
RAB 12 175 2.9e-107 SMART
Meta Mutation Damage Score 0.012 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.1%
  • 20x: 96.5%
Validation Efficiency 100% (51/51)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310007B03Rik G A 1: 93,160,891 probably null Het
4930590J08Rik G A 6: 91,923,137 G424D probably damaging Het
4932438A13Rik A G 3: 37,033,307 D4019G probably benign Het
Aco1 T C 4: 40,185,028 V566A probably benign Het
Adat1 G T 8: 111,978,072 T414K probably benign Het
Alox12e A G 11: 70,321,101 V194A probably benign Het
Anpep A G 7: 79,841,896 V119A probably benign Het
Atat1 C A 17: 35,908,957 probably null Het
Atp10a G A 7: 58,819,684 W1094* probably null Het
Bcl11b T C 12: 108,003,101 R15G probably benign Het
Btnl1 A G 17: 34,379,494 E28G probably benign Het
Ccnd1 A G 7: 144,939,569 V42A probably benign Het
Cdyl2 T A 8: 116,583,184 K344N probably damaging Het
Cyp2j7 A G 4: 96,229,974 probably null Het
Cyp3a25 A T 5: 145,998,547 D86E probably damaging Het
Dclk1 G T 3: 55,247,194 R15L probably damaging Het
Dpy19l1 T A 9: 24,482,045 K143* probably null Het
Duox2 A G 2: 122,281,002 V1405A probably benign Het
Filip1 T C 9: 79,819,624 E571G probably damaging Het
Gpat2 G C 2: 127,431,918 G294R possibly damaging Het
Jph1 T C 1: 17,091,847 N197S probably damaging Het
Kcnt2 T C 1: 140,509,584 L535S probably damaging Het
Lepr C A 4: 101,764,954 S361* probably null Het
Lfng T A 5: 140,614,396 probably null Het
Lpcat2 G A 8: 92,886,581 A250T probably benign Het
Map3k4 A T 17: 12,272,067 M159K possibly damaging Het
Notch3 A T 17: 32,144,559 C1177S probably damaging Het
Olfml2b C T 1: 170,669,231 P477L probably benign Het
Olfr180 T A 16: 58,916,264 I126L probably damaging Het
Olfr586 A T 7: 103,121,929 F281Y probably benign Het
Olfr820 A T 10: 130,017,913 H184L probably benign Het
Pald1 G T 10: 61,350,935 F146L possibly damaging Het
Pcdhga1 A G 18: 37,662,969 D342G probably damaging Het
Plcb2 T C 2: 118,715,468 S579G probably damaging Het
Prdm16 A T 4: 154,341,367 S654T probably benign Het
Rab3gap2 C A 1: 185,235,984 L178I probably damaging Het
Rbfox1 C T 16: 7,224,350 Q23* probably null Het
Slc14a2 T G 18: 78,146,975 T920P probably benign Het
Slc17a6 G A 7: 51,667,463 V411M probably benign Het
Stard6 G A 18: 70,476,388 V33I probably benign Het
Syce1 A T 7: 140,779,065 H178Q probably damaging Het
Syne2 T A 12: 76,104,980 F1872I probably damaging Het
Tor1aip1 T C 1: 156,018,488 E274G possibly damaging Het
Trpm1 A T 7: 64,268,297 T462S probably benign Het
Ugt3a1 C T 15: 9,306,455 A230V probably benign Het
Vmn1r178 A G 7: 23,893,559 T11A possibly damaging Het
Vmn2r69 A T 7: 85,411,859 N172K probably benign Het
Whrn G T 4: 63,418,592 P136T possibly damaging Het
Zfhx4 A G 3: 5,413,110 N3570S probably damaging Het
Zfp689 A G 7: 127,444,796 S221P 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
R4557:Cep68 UTSW 11 20239113 intron probably benign
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
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
Predicted Primers PCR Primer
(F):5'- TCAATGAGTATTACCCCAGCCAAG -3'
(R):5'- CTGGAACCTTTGGAACATCAC -3'

Sequencing Primer
(F):5'- AGTATTACCCCAGCCAAGTATATAAG -3'
(R):5'- TGTAACGAGATCTGATGCCC -3'
Posted On2018-05-04