Incidental Mutation 'R5672:Cfap68'
ID 442680
Institutional Source Beutler Lab
Gene Symbol Cfap68
Ensembl Gene ENSMUSG00000037971
Gene Name cilia and flagella associated protein 68
Synonyms 1110032A03Rik
MMRRC Submission 043174-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5672 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 50672674-50679536 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 50675227 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 67 (T67A)
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 probably benign
Transcript: ENSMUST00000042468
AA Change: T144A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000041803
Gene: ENSMUSG00000037971
AA Change: T144A

DomainStartEndE-ValueType
Pfam:DUF1143 1 149 7.7e-107 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000042576
AA Change: T160A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000046890
Gene: ENSMUSG00000037971
AA Change: T160A

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 probably benign
Transcript: ENSMUST00000176238
AA Change: T121A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000135679
Gene: ENSMUSG00000037971
AA Change: T121A

DomainStartEndE-ValueType
Pfam:DUF1143 1 70 4.2e-47 PFAM
Pfam:DUF1143 68 126 5.3e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000177546
AA Change: T67A

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000134870
Gene: ENSMUSG00000037971
AA Change: T67A

DomainStartEndE-ValueType
Pfam:DUF1143 13 72 3.3e-39 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177022
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176894
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177142
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
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A4gnt A G 9: 99,502,383 (GRCm39) N181S possibly damaging Het
Abcf3 A T 16: 20,368,002 (GRCm39) Q74L probably benign Het
Ankrd13c T C 3: 157,666,664 (GRCm39) probably null Het
Bub1 A G 2: 127,646,800 (GRCm39) F827L possibly damaging Het
Cyp2c55 A G 19: 39,023,990 (GRCm39) I355V probably benign Het
Dido1 A G 2: 180,313,696 (GRCm39) S319P probably damaging Het
Efna5 A T 17: 63,188,025 (GRCm39) V34D probably damaging Het
Fam131a G T 16: 20,518,389 (GRCm39) E88D probably damaging Het
Fsip2 A T 2: 82,817,838 (GRCm39) R4524* probably null Het
Gm6899 C T 11: 26,543,484 (GRCm39) probably benign Het
Iqcg C T 16: 32,839,878 (GRCm39) R356Q probably damaging Het
Itgae T A 11: 73,036,377 (GRCm39) I1105N possibly damaging Het
Klb T C 5: 65,537,292 (GRCm39) I874T possibly damaging Het
Klc3 T C 7: 19,130,256 (GRCm39) Y307C probably damaging Het
Lrp1b T A 2: 41,231,771 (GRCm39) H378L probably benign Het
Mxd4 G A 5: 34,335,044 (GRCm39) R114C probably damaging Het
Nrdc A T 4: 108,895,242 (GRCm39) R241* probably null Het
Ofcc1 G A 13: 40,433,905 (GRCm39) H67Y probably damaging Het
Or10ak9 A G 4: 118,726,379 (GRCm39) T134A possibly damaging Het
Or5p5 A G 7: 107,413,844 (GRCm39) T18A probably damaging Het
Or7e165 T A 9: 19,694,507 (GRCm39) I26N possibly damaging Het
Pard3b G T 1: 62,049,625 (GRCm39) A128S probably benign Het
Plat T C 8: 23,263,664 (GRCm39) Y188H probably benign Het
Pop1 A G 15: 34,530,325 (GRCm39) K908E possibly damaging Het
Pten A G 19: 32,735,866 (GRCm39) I8V probably benign Het
Pwwp2a C T 11: 43,596,968 (GRCm39) A436V probably damaging Het
Rnf145 G A 11: 44,422,120 (GRCm39) V68M possibly damaging Het
Sdk1 T C 5: 142,173,900 (GRCm39) C2023R possibly damaging Het
Serpina1d A C 12: 103,730,101 (GRCm39) D360E possibly damaging Het
Serpinb9b A G 13: 33,223,582 (GRCm39) D258G probably benign Het
Smgc G A 15: 91,726,108 (GRCm39) S18N possibly damaging Het
Snx27 A T 3: 94,410,157 (GRCm39) probably null Het
Spem1 T G 11: 69,712,263 (GRCm39) K134Q probably damaging Het
Srgap3 T A 6: 112,752,522 (GRCm39) M321L probably benign Het
Tanc1 T C 2: 59,602,697 (GRCm39) C163R possibly damaging Het
Ube2ql1 A T 13: 69,887,446 (GRCm39) L5H unknown Het
Ubn2 T C 6: 38,438,462 (GRCm39) I225T probably damaging Het
Vmn1r181 A C 7: 23,683,741 (GRCm39) T69P probably damaging Het
Vmn2r110 A G 17: 20,816,494 (GRCm39) F10L probably benign Het
Yeats2 T C 16: 19,980,779 (GRCm39) M236T probably damaging Het
Other mutations in Cfap68
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1535:Cfap68 UTSW 9 50,675,307 (GRCm39) missense probably damaging 0.97
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
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
Posted On 2016-11-09