Incidental Mutation 'R6727:Cfap58'
ID 529932
Institutional Source Beutler Lab
Gene Symbol Cfap58
Ensembl Gene ENSMUSG00000046585
Gene Name cilia and flagella associated protein 58
Synonyms Ccdc147, LOC381229
MMRRC Submission 044845-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.111) question?
Stock # R6727 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 47926151-48023818 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 47943856 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 352 (D352V)
Ref Sequence ENSEMBL: ENSMUSP00000070533 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066308]
AlphaFold B2RW38
Predicted Effect probably benign
Transcript: ENSMUST00000066308
AA Change: D352V

PolyPhen 2 Score 0.302 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000070533
Gene: ENSMUSG00000046585
AA Change: D352V

DomainStartEndE-ValueType
coiled coil region 106 579 N/A INTRINSIC
coiled coil region 642 706 N/A INTRINSIC
low complexity region 740 762 N/A INTRINSIC
coiled coil region 772 832 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 96.1%
Validation Efficiency 98% (44/45)
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010109A12Rik A G 5: 93,354,434 (GRCm39) probably benign Het
4930563M21Rik C T 9: 55,896,760 (GRCm39) V283I possibly damaging Het
Acot11 C T 4: 106,617,327 (GRCm39) G240R probably damaging Het
Allc T A 12: 28,607,388 (GRCm39) H288L probably damaging Het
Atg16l1 T C 1: 87,702,576 (GRCm39) I279T possibly damaging Het
Atp6v1b1 A G 6: 83,728,857 (GRCm39) probably benign Het
Barhl1 G A 2: 28,805,495 (GRCm39) P66L probably benign Het
Brd8dc T A 18: 34,713,894 (GRCm39) M244L probably benign Het
Cyp3a44 T A 5: 145,731,781 (GRCm39) K122* probably null Het
Dnai1 G T 4: 41,625,308 (GRCm39) R424L probably benign Het
Dync1li2 G T 8: 105,167,167 (GRCm39) H79Q probably damaging Het
Fem1b A G 9: 62,704,015 (GRCm39) V415A possibly damaging Het
Fgb C T 3: 82,954,094 (GRCm39) S48N possibly damaging Het
Gm5624 T C 14: 44,799,332 (GRCm39) D31G possibly damaging Het
Gzmn T A 14: 56,403,432 (GRCm39) I226F probably damaging Het
H2-T5 A T 17: 36,476,622 (GRCm39) V284E probably damaging Het
Il31ra T C 13: 112,683,902 (GRCm39) S184G probably damaging Het
Insrr C T 3: 87,720,873 (GRCm39) R1044C probably damaging Het
Kcnj15 A G 16: 95,097,193 (GRCm39) S272G probably damaging Het
Kcnk16 C T 14: 20,312,997 (GRCm39) A106T probably benign Het
Kmt2b A G 7: 30,283,984 (GRCm39) V876A probably damaging Het
Large2 G T 2: 92,201,215 (GRCm39) probably benign Het
Maml2 A T 9: 13,532,847 (GRCm39) probably benign Het
Me1 A G 9: 86,464,851 (GRCm39) L533P possibly damaging Het
Muc16 A G 9: 18,477,986 (GRCm39) probably null Het
Nova2 C A 7: 18,692,419 (GRCm39) T516K probably damaging Het
Or1l4 T A 2: 37,092,118 (GRCm39) N288K probably damaging Het
Or56b1 T C 7: 104,285,094 (GRCm39) I71T probably damaging Het
Otogl G A 10: 107,612,978 (GRCm39) silent Het
Ppp2r1a T A 17: 21,176,087 (GRCm39) V103E probably benign Het
Prl3d3 G A 13: 27,341,147 (GRCm39) probably null Het
Rhbdf1 G T 11: 32,164,042 (GRCm39) A288E possibly damaging Het
Rnf213 T C 11: 119,321,147 (GRCm39) S1202P possibly damaging Het
Slc25a17 A G 15: 81,222,154 (GRCm39) V106A probably benign Het
Slc4a4 T G 5: 89,318,624 (GRCm39) S640A probably benign Het
Smc4 T A 3: 68,924,105 (GRCm39) Y298N probably damaging Het
Tek G T 4: 94,741,732 (GRCm39) G830* probably null Het
Tgfb1 A T 7: 25,388,587 (GRCm39) probably benign Het
Themis T C 10: 28,657,903 (GRCm39) I157T probably damaging Het
Trmt12 A G 15: 58,744,514 (GRCm39) probably benign Het
Trrap T C 5: 144,793,760 (GRCm39) W3654R probably damaging Het
Tspan3 C T 9: 56,054,724 (GRCm39) G108S probably damaging Het
Ugt1a10 T A 1: 87,983,979 (GRCm39) probably null Het
Vps13b A G 15: 35,770,829 (GRCm39) K2091E probably benign Het
Wdr62 A T 7: 29,971,045 (GRCm39) V184D probably damaging Het
Zfp958 C A 8: 4,678,247 (GRCm39) Q90K probably benign Het
Other mutations in Cfap58
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01688:Cfap58 APN 19 47,963,006 (GRCm39) missense probably benign 0.30
IGL02068:Cfap58 APN 19 47,974,951 (GRCm39) missense probably damaging 1.00
IGL02609:Cfap58 APN 19 47,963,941 (GRCm39) missense possibly damaging 0.80
IGL03376:Cfap58 APN 19 48,023,164 (GRCm39) missense possibly damaging 0.60
PIT4515001:Cfap58 UTSW 19 48,023,122 (GRCm39) missense probably benign
PIT4618001:Cfap58 UTSW 19 47,963,953 (GRCm39) missense probably damaging 1.00
R0015:Cfap58 UTSW 19 48,017,539 (GRCm39) missense probably benign 0.45
R0015:Cfap58 UTSW 19 48,017,539 (GRCm39) missense probably benign 0.45
R0454:Cfap58 UTSW 19 47,963,119 (GRCm39) critical splice donor site probably null
R0545:Cfap58 UTSW 19 47,929,536 (GRCm39) splice site probably benign
R0789:Cfap58 UTSW 19 47,943,748 (GRCm39) missense probably benign 0.09
R0926:Cfap58 UTSW 19 47,951,001 (GRCm39) missense probably damaging 0.96
R1148:Cfap58 UTSW 19 47,976,943 (GRCm39) missense probably damaging 0.96
R1148:Cfap58 UTSW 19 47,976,943 (GRCm39) missense probably damaging 0.96
R1462:Cfap58 UTSW 19 47,950,869 (GRCm39) missense probably damaging 1.00
R1462:Cfap58 UTSW 19 47,950,869 (GRCm39) missense probably damaging 1.00
R1493:Cfap58 UTSW 19 47,976,943 (GRCm39) missense probably damaging 0.96
R1541:Cfap58 UTSW 19 47,971,969 (GRCm39) missense probably damaging 1.00
R1629:Cfap58 UTSW 19 47,929,778 (GRCm39) missense probably benign 0.02
R1648:Cfap58 UTSW 19 47,943,844 (GRCm39) missense probably benign 0.13
R1837:Cfap58 UTSW 19 48,017,578 (GRCm39) missense probably damaging 0.98
R2307:Cfap58 UTSW 19 47,950,925 (GRCm39) nonsense probably null
R2513:Cfap58 UTSW 19 47,950,981 (GRCm39) missense probably benign 0.03
R3802:Cfap58 UTSW 19 47,941,498 (GRCm39) missense possibly damaging 0.81
R4233:Cfap58 UTSW 19 47,963,994 (GRCm39) missense possibly damaging 0.60
R4258:Cfap58 UTSW 19 47,937,923 (GRCm39) splice site probably null
R4414:Cfap58 UTSW 19 47,941,480 (GRCm39) missense possibly damaging 0.87
R4763:Cfap58 UTSW 19 47,971,945 (GRCm39) missense probably damaging 1.00
R5300:Cfap58 UTSW 19 47,929,595 (GRCm39) missense probably benign 0.09
R5406:Cfap58 UTSW 19 48,017,541 (GRCm39) missense possibly damaging 0.81
R5497:Cfap58 UTSW 19 48,017,548 (GRCm39) missense probably benign 0.08
R5635:Cfap58 UTSW 19 47,971,981 (GRCm39) missense possibly damaging 0.47
R6315:Cfap58 UTSW 19 47,929,716 (GRCm39) missense probably benign 0.40
R6483:Cfap58 UTSW 19 47,971,891 (GRCm39) missense probably benign 0.00
R6896:Cfap58 UTSW 19 47,932,626 (GRCm39) missense probably damaging 0.98
R7461:Cfap58 UTSW 19 47,970,561 (GRCm39) missense possibly damaging 0.70
R7473:Cfap58 UTSW 19 47,963,064 (GRCm39) nonsense probably null
R7613:Cfap58 UTSW 19 47,970,561 (GRCm39) missense possibly damaging 0.70
R7650:Cfap58 UTSW 19 47,974,967 (GRCm39) missense possibly damaging 0.84
R7982:Cfap58 UTSW 19 47,963,006 (GRCm39) missense probably benign 0.30
R8083:Cfap58 UTSW 19 47,971,957 (GRCm39) missense probably damaging 1.00
R8121:Cfap58 UTSW 19 48,017,543 (GRCm39) missense probably benign 0.40
R8321:Cfap58 UTSW 19 47,946,586 (GRCm39) missense probably damaging 0.99
R8396:Cfap58 UTSW 19 48,017,540 (GRCm39) missense probably damaging 1.00
R8462:Cfap58 UTSW 19 47,972,089 (GRCm39) missense possibly damaging 0.94
R8745:Cfap58 UTSW 19 47,929,553 (GRCm39) nonsense probably null
R8805:Cfap58 UTSW 19 47,941,535 (GRCm39) missense probably damaging 0.99
R9049:Cfap58 UTSW 19 48,015,157 (GRCm39) critical splice acceptor site probably null
R9142:Cfap58 UTSW 19 47,974,993 (GRCm39) critical splice donor site probably null
R9358:Cfap58 UTSW 19 47,962,987 (GRCm39) nonsense probably null
R9709:Cfap58 UTSW 19 47,963,992 (GRCm39) missense probably damaging 1.00
X0067:Cfap58 UTSW 19 47,943,747 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TCATTGGTTCAGCATCCCAG -3'
(R):5'- TTAGACTCCCATGGTGCCAC -3'

Sequencing Primer
(F):5'- GGTTCAGCATCCCAGCTAATTC -3'
(R):5'- TTTACAGCCTTGGAAACAGTGG -3'
Posted On 2018-08-01