Incidental Mutation 'R5300:Cfap58'
ID 405621
Institutional Source Beutler Lab
Gene Symbol Cfap58
Ensembl Gene ENSMUSG00000046585
Gene Name cilia and flagella associated protein 58
Synonyms Ccdc147, LOC381229
MMRRC Submission 042883-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.111) question?
Stock # R5300 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 47926151-48023818 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 47929595 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 19 (I19F)
Ref Sequence ENSEMBL: ENSMUSP00000070533 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066308]
AlphaFold B2RW38
Predicted Effect probably benign
Transcript: ENSMUST00000066308
AA Change: I19F

PolyPhen 2 Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000070533
Gene: ENSMUSG00000046585
AA Change: I19F

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.6%
  • 20x: 93.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ank1 A G 8: 23,622,517 (GRCm39) K1644E probably benign Het
C7 C A 15: 5,061,432 (GRCm39) G306W probably damaging Het
Ccdc185 A G 1: 182,575,645 (GRCm39) V348A probably benign Het
Dnaaf2 C G 12: 69,245,002 (GRCm39) V20L probably damaging Het
Dpy19l3 A G 7: 35,426,735 (GRCm39) Y58H probably damaging Het
Dsc1 T C 18: 20,227,917 (GRCm39) S480G probably damaging Het
Eno4 G A 19: 58,943,982 (GRCm39) probably null Het
Gm136 T G 4: 34,750,930 (GRCm39) K114N probably damaging Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Lrrc37a T A 11: 103,347,784 (GRCm39) L2970F unknown Het
Ly86 C T 13: 37,602,588 (GRCm39) T160I probably benign Het
Mfsd4b1 A C 10: 39,879,027 (GRCm39) F290C probably benign Het
Minar1 A T 9: 89,485,252 (GRCm39) S48R probably damaging Het
Nbeal1 T G 1: 60,274,718 (GRCm39) Y376* probably null Het
Nipbl A T 15: 8,380,981 (GRCm39) S604T probably benign Het
Pml A C 9: 58,154,302 (GRCm39) N190K probably damaging Het
Rin3 C A 12: 102,335,929 (GRCm39) F533L probably benign Het
Scamp1 A G 13: 94,340,670 (GRCm39) V233A probably damaging Het
Sppl2c A T 11: 104,077,901 (GRCm39) N234Y possibly damaging Het
Tfap2b A G 1: 19,298,677 (GRCm39) K278R probably damaging Het
Tg A G 15: 66,550,704 (GRCm39) Y278C probably damaging Het
Trdn A G 10: 33,071,978 (GRCm39) E215G probably damaging Het
Tssk6 T C 8: 70,355,285 (GRCm39) S110P probably benign Het
Vmn2r15 A T 5: 109,441,974 (GRCm39) L153Q probably damaging Het
Wdr17 C T 8: 55,134,434 (GRCm39) G349R probably damaging Het
Zfp667 A G 7: 6,307,635 (GRCm39) H101R probably benign Het
Zfp772 A T 7: 7,207,157 (GRCm39) M178K 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
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
R6727:Cfap58 UTSW 19 47,943,856 (GRCm39) missense probably benign 0.30
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'- CAATATTTCTGCTAGCTGGCGG -3'
(R):5'- GCCGAGTTCACCACAATCTCTG -3'

Sequencing Primer
(F):5'- GTACCATCAGCCACGTGCATG -3'
(R):5'- ACCACAATCTCTGCGTTCAG -3'
Posted On 2016-07-22