Incidental Mutation 'R1535:Cfap68'
ID 166900
Institutional Source Beutler Lab
Gene Symbol Cfap68
Ensembl Gene ENSMUSG00000037971
Gene Name cilia and flagella associated protein 68
Synonyms 1110032A03Rik
MMRRC Submission 039574-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1535 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 50672674-50679536 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 50675307 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 40 (R40Q)
Ref Sequence ENSEMBL: ENSMUSP00000134870 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042391] [ENSMUST00000042468] [ENSMUST00000042576] [ENSMUST00000176145] [ENSMUST00000176238] [ENSMUST00000177546] [ENSMUST00000176335]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000042391
SMART Domains Protein: ENSMUSP00000037082
Gene: ENSMUSG00000037845

DomainStartEndE-ValueType
Pfam:DUF2431 7 176 1.4e-44 PFAM
low complexity region 258 269 N/A INTRINSIC
SCOP:d1jjca_ 487 516 6e-4 SMART
FDX-ACB 528 622 5.88e-17 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000042468
AA Change: R117Q

PolyPhen 2 Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000041803
Gene: ENSMUSG00000037971
AA Change: R117Q

DomainStartEndE-ValueType
Pfam:DUF1143 1 149 7.7e-107 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000042576
AA Change: R133Q

PolyPhen 2 Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000046890
Gene: ENSMUSG00000037971
AA Change: R133Q

DomainStartEndE-ValueType
Pfam:DUF1143 15 164 1.8e-94 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000176145
SMART Domains Protein: ENSMUSP00000135796
Gene: ENSMUSG00000037845

DomainStartEndE-ValueType
Pfam:DUF2431 7 115 4.2e-33 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176160
Predicted Effect possibly damaging
Transcript: ENSMUST00000176238
AA Change: R94Q

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000135679
Gene: ENSMUSG00000037971
AA Change: R94Q

DomainStartEndE-ValueType
Pfam:DUF1143 1 70 4.2e-47 PFAM
Pfam:DUF1143 68 126 5.3e-38 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000177546
AA Change: R40Q

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000134870
Gene: ENSMUSG00000037971
AA Change: R40Q

DomainStartEndE-ValueType
Pfam:DUF1143 13 72 3.3e-39 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177022
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177142
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176894
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176619
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176682
Predicted Effect probably benign
Transcript: ENSMUST00000176335
SMART Domains Protein: ENSMUSP00000135658
Gene: ENSMUSG00000037845

DomainStartEndE-ValueType
low complexity region 56 67 N/A INTRINSIC
SCOP:d1jjca_ 285 314 3e-4 SMART
FDX-ACB 326 420 5.88e-17 SMART
Meta Mutation Damage Score 0.4386 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 93.2%
Validation Efficiency 100% (75/75)
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110009E18Rik T C 1: 120,099,203 (GRCm39) S99P possibly damaging Het
Abca16 T A 7: 120,139,928 (GRCm39) I1530N probably benign Het
Abcc9 T G 6: 142,610,361 (GRCm39) Q601P probably damaging Het
Acap3 A G 4: 155,980,631 (GRCm39) probably benign Het
Adamts16 A T 13: 70,939,913 (GRCm39) probably null Het
Alpk2 G C 18: 65,483,275 (GRCm39) S244R probably benign Het
Aoc1l1 T C 6: 48,952,398 (GRCm39) F108L probably damaging Het
Atp8b1 C T 18: 64,678,335 (GRCm39) V854M probably damaging Het
Bend5 C A 4: 111,316,960 (GRCm39) D374E probably benign Het
Catsperg2 T C 7: 29,397,671 (GRCm39) D1014G possibly damaging Het
Ccer2 G T 7: 28,456,822 (GRCm39) G189* probably null Het
Ces2h A G 8: 105,741,118 (GRCm39) T37A probably benign Het
Cmah T C 13: 24,623,203 (GRCm39) F213L probably damaging Het
Cntn2 T C 1: 132,453,122 (GRCm39) E390G probably benign Het
Coq7 C T 7: 118,128,897 (GRCm39) R46Q possibly damaging Het
Cpb1 T A 3: 20,320,451 (GRCm39) D136V probably benign Het
Cxcr2 T C 1: 74,198,217 (GRCm39) L237P probably damaging Het
Daam1 T C 12: 71,998,692 (GRCm39) L549P unknown Het
Diaph1 A G 18: 38,029,146 (GRCm39) probably null Het
Dis3 G T 14: 99,316,862 (GRCm39) Q825K probably damaging Het
Dnah11 C T 12: 117,982,465 (GRCm39) R2568Q probably damaging Het
Dnah12 A T 14: 26,538,279 (GRCm39) R2312S possibly damaging Het
Dock9 C T 14: 121,783,476 (GRCm39) E2041K probably damaging Het
Eci1 A G 17: 24,658,064 (GRCm39) E282G probably benign Het
Egf T A 3: 129,484,427 (GRCm39) T464S probably benign Het
Eif4g3 C T 4: 137,824,613 (GRCm39) P97S probably damaging Het
Emsy A G 7: 98,242,944 (GRCm39) V1065A possibly damaging Het
Ep400 G T 5: 110,856,032 (GRCm39) probably benign Het
Fam13a A C 6: 58,916,332 (GRCm39) I607S probably damaging Het
Fam241b A G 10: 61,944,728 (GRCm39) S113P probably damaging Het
Fbxl21 A T 13: 56,671,340 (GRCm39) M1L probably benign Het
Fnip2 C A 3: 79,389,072 (GRCm39) C553F probably damaging Het
Frmd3 G T 4: 73,931,995 (GRCm39) probably benign Het
Grm4 G A 17: 27,653,775 (GRCm39) S470L probably benign Het
Gucy2e T A 11: 69,117,070 (GRCm39) I784F probably damaging Het
H1f10 T C 6: 87,958,130 (GRCm39) Y70C probably damaging Het
Hmcn2 A T 2: 31,310,419 (GRCm39) T3338S possibly damaging Het
Idh1 C T 1: 65,207,697 (GRCm39) G161R probably damaging Het
Idi1 T C 13: 8,936,945 (GRCm39) probably benign Het
Idi2l A T 13: 8,990,680 (GRCm39) probably benign Het
Kcnq2 C T 2: 180,776,618 (GRCm39) G90S probably damaging Het
Klhl29 A G 12: 5,134,486 (GRCm39) Y642H probably damaging Het
Lmtk3 T A 7: 45,443,994 (GRCm39) probably benign Het
Macf1 A T 4: 123,334,486 (GRCm39) F4420I probably benign Het
Me1 A G 9: 86,469,096 (GRCm39) S470P probably damaging Het
Mfsd2b A G 12: 4,920,605 (GRCm39) S71P probably damaging Het
Mfsd3 T C 15: 76,586,979 (GRCm39) L273P probably damaging Het
Mical1 A G 10: 41,361,207 (GRCm39) K757R possibly damaging Het
Myh9 A T 15: 77,662,013 (GRCm39) V782D probably damaging Het
Nab2 C G 10: 127,500,916 (GRCm39) E59Q probably damaging Het
Nfyc A T 4: 120,618,921 (GRCm39) N244K probably damaging Het
Nupr2 A G 5: 129,937,672 (GRCm39) I80M probably damaging Het
Or4c15b T C 2: 89,113,401 (GRCm39) I46M probably benign Het
Or51f1d A G 7: 102,700,576 (GRCm39) T24A probably benign Het
Or5a1 A G 19: 12,097,696 (GRCm39) C115R probably damaging Het
Pkn3 A G 2: 29,977,065 (GRCm39) T602A probably benign Het
Prrc2b T A 2: 32,094,301 (GRCm39) V561D probably benign Het
Psd2 T A 18: 36,138,843 (GRCm39) V489E probably benign Het
Rasal2 T C 1: 157,057,629 (GRCm39) T181A probably benign Het
Serpinb13 T C 1: 106,909,886 (GRCm39) M1T probably null Het
Sgsm1 A T 5: 113,411,135 (GRCm39) S864T possibly damaging Het
Slc5a10 C A 11: 61,564,767 (GRCm39) G404V possibly damaging Het
Slc6a1 G T 6: 114,284,731 (GRCm39) G263V probably damaging Het
Son A G 16: 91,456,622 (GRCm39) K1790E probably damaging Het
Spata31e5 T C 1: 28,816,505 (GRCm39) E509G probably damaging Het
Syde2 A G 3: 145,708,176 (GRCm39) probably benign Het
Tmem126a T C 7: 90,102,026 (GRCm39) I58V probably benign Het
Vmn2r8 T C 5: 108,950,040 (GRCm39) Y269C probably damaging Het
Wdr87-ps C T 7: 29,229,004 (GRCm39) noncoding transcript Het
Yeats2 T A 16: 20,008,115 (GRCm39) S416T probably damaging Het
Zfp40 A T 17: 23,394,843 (GRCm39) H513Q probably damaging Het
Other mutations in Cfap68
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2145:Cfap68 UTSW 9 50,676,174 (GRCm39) missense probably damaging 1.00
R3748:Cfap68 UTSW 9 50,677,050 (GRCm39) missense probably benign 0.00
R5258:Cfap68 UTSW 9 50,675,633 (GRCm39) intron probably benign
R5337:Cfap68 UTSW 9 50,677,049 (GRCm39) missense probably benign
R5408:Cfap68 UTSW 9 50,676,057 (GRCm39) missense probably damaging 1.00
R5672:Cfap68 UTSW 9 50,675,227 (GRCm39) missense probably benign 0.03
R6242:Cfap68 UTSW 9 50,675,215 (GRCm39) missense probably benign 0.00
R6326:Cfap68 UTSW 9 50,676,057 (GRCm39) missense probably damaging 1.00
R7440:Cfap68 UTSW 9 50,676,213 (GRCm39) missense probably benign 0.01
R7908:Cfap68 UTSW 9 50,675,248 (GRCm39) missense possibly damaging 0.73
RF008:Cfap68 UTSW 9 50,677,067 (GRCm39) missense probably benign 0.02
Z1176:Cfap68 UTSW 9 50,679,519 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- ACAGCAGCCATGTTGAGAGTGATG -3'
(R):5'- ATCGCAGTCCCCAGCAGATAGAAG -3'

Sequencing Primer
(F):5'- AATGAAGCTACTTCTTCTTCTTCAG -3'
(R):5'- CCCAGCAGATAGAAGGAACTC -3'
Posted On 2014-04-13