Incidental Mutation 'R6772:Cfap77'
ID 532192
Institutional Source Beutler Lab
Gene Symbol Cfap77
Ensembl Gene ENSMUSG00000079502
Gene Name cilia and flagella associated protein 77
Synonyms LOC329375, 1700101E01Rik
MMRRC Submission 044888-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.099) question?
Stock # R6772 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 28845493-28945078 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 28944951 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 24 (T24A)
Ref Sequence ENSEMBL: ENSMUSP00000140084 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000157048] [ENSMUST00000189027] [ENSMUST00000189711]
AlphaFold A0A087WRI3
Predicted Effect probably benign
Transcript: ENSMUST00000157048
AA Change: T24A

PolyPhen 2 Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000125742
Gene: ENSMUSG00000079502
AA Change: T24A

DomainStartEndE-ValueType
Pfam:DUF4483 54 204 1.1e-53 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000189027
AA Change: T24A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect probably benign
Transcript: ENSMUST00000189711
AA Change: T24A

PolyPhen 2 Score 0.333 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000140645
Gene: ENSMUSG00000079502
AA Change: T24A

DomainStartEndE-ValueType
Pfam:DUF4483 52 250 9.4e-65 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.8%
  • 20x: 96.7%
Validation Efficiency 97% (36/37)
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A T 7: 120,126,276 (GRCm39) D1144V probably damaging Het
Ankrd13a A G 5: 114,939,804 (GRCm39) H477R probably benign Het
Anxa3 A T 5: 96,958,972 (GRCm39) I27F probably damaging Het
Aplf T C 6: 87,640,781 (GRCm39) E76G possibly damaging Het
Bbs1 A G 19: 4,956,618 (GRCm39) probably benign Het
Camk2a T C 18: 61,102,092 (GRCm39) S332P probably benign Het
Casz1 T A 4: 149,027,663 (GRCm39) F1013L probably damaging Het
Cd109 A T 9: 78,588,092 (GRCm39) I707F possibly damaging Het
Cd4 G A 6: 124,849,421 (GRCm39) T202I probably benign Het
Celsr1 A G 15: 85,914,983 (GRCm39) S997P probably benign Het
Dscaml1 G A 9: 45,621,609 (GRCm39) R1019H probably damaging Het
Epb41l4b C A 4: 57,063,140 (GRCm39) V517F probably benign Het
Exosc10 G A 4: 148,665,591 (GRCm39) D818N probably damaging Het
Furin C T 7: 80,043,240 (GRCm39) G324S probably damaging Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Ifi206 T C 1: 173,308,773 (GRCm39) M408V unknown Het
Kdm4a T C 4: 117,999,752 (GRCm39) probably null Het
Neo1 T A 9: 58,810,259 (GRCm39) Q1064L probably damaging Het
Nphp4 G A 4: 152,628,863 (GRCm39) V750I probably benign Het
Pcdhac1 T C 18: 37,223,289 (GRCm39) V34A probably benign Het
Pdk4 T C 6: 5,487,141 (GRCm39) I302V probably benign Het
Prl6a1 A G 13: 27,503,031 (GRCm39) D209G probably damaging Het
Pspn T C 17: 57,306,515 (GRCm39) Q138R probably benign Het
Ptgs2 A G 1: 149,977,829 (GRCm39) Y134C probably damaging Het
Rlbp1 G A 7: 79,033,798 (GRCm39) probably benign Het
Rpia T C 6: 70,762,532 (GRCm39) I108V probably benign Het
Tcaf1 A T 6: 42,652,210 (GRCm39) H757Q probably damaging Het
Ttc8 A C 12: 98,909,848 (GRCm39) S143R probably damaging Het
Uba6 A G 5: 86,294,932 (GRCm39) probably benign Het
Ubr4 A T 4: 139,194,541 (GRCm39) K4280* probably null Het
Vmn2r15 C A 5: 109,434,238 (GRCm39) S822I probably damaging Het
Vps53 A T 11: 76,070,324 (GRCm39) M1K probably null Het
Zfp362 A G 4: 128,684,053 (GRCm39) M18T possibly damaging Het
Zfp429 A G 13: 67,538,317 (GRCm39) C376R probably damaging Het
Zfyve9 T C 4: 108,496,466 (GRCm39) N1395S probably damaging Het
Zmynd8 T A 2: 165,649,521 (GRCm39) Q857H probably benign Het
Other mutations in Cfap77
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02427:Cfap77 APN 2 28,845,592 (GRCm39) nonsense probably null
R0094:Cfap77 UTSW 2 28,874,446 (GRCm39) missense probably damaging 1.00
R1164:Cfap77 UTSW 2 28,852,700 (GRCm39) missense probably damaging 1.00
R3081:Cfap77 UTSW 2 28,852,662 (GRCm39) missense probably damaging 1.00
R4732:Cfap77 UTSW 2 28,874,400 (GRCm39) missense probably benign 0.17
R4733:Cfap77 UTSW 2 28,874,400 (GRCm39) missense probably benign 0.17
R4831:Cfap77 UTSW 2 28,875,844 (GRCm39) missense probably benign 0.00
R7170:Cfap77 UTSW 2 28,875,854 (GRCm39) nonsense probably null
R7466:Cfap77 UTSW 2 28,845,625 (GRCm39) missense probably benign
R9764:Cfap77 UTSW 2 28,852,741 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTCAGCAGCTGGAACCCATC -3'
(R):5'- TAAGCTTTGGACAGAGGCTC -3'

Sequencing Primer
(F):5'- AACCCATCGGCGGCGTC -3'
(R):5'- TTTGGACAGAGGCTCCGCAG -3'
Posted On 2018-08-29