Incidental Mutation 'R8396:Cfap58'
ID 647630
Institutional Source Beutler Lab
Gene Symbol Cfap58
Ensembl Gene ENSMUSG00000046585
Gene Name cilia and flagella associated protein 58
Synonyms Ccdc147, LOC381229
MMRRC Submission 067812-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.111) question?
Stock # R8396 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 47926151-48023818 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 48017540 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 800 (M800K)
Ref Sequence ENSEMBL: ENSMUSP00000070533 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066308]
AlphaFold B2RW38
Predicted Effect probably damaging
Transcript: ENSMUST00000066308
AA Change: M800K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000070533
Gene: ENSMUSG00000046585
AA Change: M800K

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arfgef3 A G 10: 18,528,280 (GRCm39) probably null Het
Arid1a T C 4: 133,479,973 (GRCm39) Y317C probably damaging Het
Asxl2 A G 12: 3,552,220 (GRCm39) T1321A probably benign Het
Bckdk A G 7: 127,504,931 (GRCm39) Y129C probably damaging Het
Birc2 A G 9: 7,834,301 (GRCm39) V60A probably benign Het
Bmp8a T C 4: 123,218,952 (GRCm39) H152R probably benign Het
C3 T C 17: 57,528,029 (GRCm39) H730R probably benign Het
Ccser1 T A 6: 61,289,088 (GRCm39) V417E probably benign Het
Clip1 A G 5: 123,780,627 (GRCm39) L352P probably damaging Het
Cr2 A G 1: 194,840,376 (GRCm39) L522P probably damaging Het
Ctcf T A 8: 106,393,379 (GRCm39) H347Q possibly damaging Het
Gm13271 A T 4: 88,673,318 (GRCm39) M72L probably benign Het
Gpat4 GTGTT GT 8: 23,669,498 (GRCm39) probably benign Het
Ighv5-8 C T 12: 113,618,813 (GRCm39) A76V unknown Het
Irx5 G A 8: 93,086,962 (GRCm39) G298D probably benign Het
Klf5 T C 14: 99,539,670 (GRCm39) I361T possibly damaging Het
Lsm11 G A 11: 45,835,591 (GRCm39) A50V probably benign Het
Map1b T C 13: 99,570,621 (GRCm39) K700R unknown Het
Muc5b A T 7: 141,405,552 (GRCm39) T954S unknown Het
Nhsl1 A G 10: 18,400,910 (GRCm39) N678S probably benign Het
Npsr1 T A 9: 24,221,377 (GRCm39) I277N possibly damaging Het
Ntsr2 A G 12: 16,706,821 (GRCm39) H283R probably damaging Het
Obscn A T 11: 58,893,829 (GRCm39) I6746N probably benign Het
Obsl1 T C 1: 75,480,350 (GRCm39) T425A probably benign Het
Pag1 T A 3: 9,759,112 (GRCm39) E335D probably benign Het
Parp3 T A 9: 106,351,447 (GRCm39) Q223L probably benign Het
Pogz T C 3: 94,786,061 (GRCm39) V883A probably benign Het
Rsbn1l A T 5: 21,132,665 (GRCm39) M198K probably benign Het
Sh3bgr A G 16: 96,007,680 (GRCm39) probably null Het
Shc4 A G 2: 125,471,617 (GRCm39) I600T probably damaging Het
Slc26a1 T C 5: 108,821,715 (GRCm39) H74R probably benign Het
Slc7a11 A C 3: 50,338,578 (GRCm39) I277S possibly damaging Het
Tep1 G T 14: 51,074,529 (GRCm39) T1832N probably benign Het
Terf2 A G 8: 107,809,613 (GRCm39) probably null Het
Tle4 G A 19: 14,432,323 (GRCm39) Q458* probably null Het
Trim34b A T 7: 103,979,083 (GRCm39) D110V probably damaging Het
Usp9y A T Y: 1,308,034 (GRCm39) N2267K possibly damaging Het
Vmn2r50 G A 7: 9,781,639 (GRCm39) Q369* probably null Het
Zfp217 G A 2: 169,961,571 (GRCm39) S252F possibly damaging Het
Zfp229 T C 17: 21,965,077 (GRCm39) S436P probably damaging 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
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
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'- CTGTTGTAGTTTGAAACCCGG -3'
(R):5'- GGCAGCTCTGAGAAATTCATCAAAC -3'

Sequencing Primer
(F):5'- TTGAAACCCGGTTTGGACAG -3'
(R):5'- GCTTCCCGAATGCTACGATTAAAGG -3'
Posted On 2020-09-02