Incidental Mutation 'IGL02068:Cfap58'
ID 283331
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cfap58
Ensembl Gene ENSMUSG00000046585
Gene Name cilia and flagella associated protein 58
Synonyms Ccdc147, LOC381229
Accession Numbers
Essential gene? Probably non essential (E-score: 0.111) question?
Stock # IGL02068
Quality Score
Status
Chromosome 19
Chromosomal Location 47926151-48023818 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 47974951 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 704 (L704P)
Ref Sequence ENSEMBL: ENSMUSP00000070533 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066308]
AlphaFold B2RW38
Predicted Effect probably damaging
Transcript: ENSMUST00000066308
AA Change: L704P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000070533
Gene: ENSMUSG00000046585
AA Change: L704P

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
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamdec1 T A 14: 68,814,558 (GRCm39) I140F probably benign Het
Cnnm2 T C 19: 46,865,827 (GRCm39) V805A possibly damaging Het
Dnah9 T C 11: 65,951,871 (GRCm39) E1876G probably damaging Het
Dock1 A T 7: 134,373,277 (GRCm39) E548V probably benign Het
Entrep3 C T 3: 89,095,903 (GRCm39) R545* probably null Het
Esm1 T G 13: 113,346,630 (GRCm39) F85C probably damaging Het
Fcer1a C T 1: 173,053,071 (GRCm39) G42R probably damaging Het
Fcer1g A T 1: 171,058,760 (GRCm39) Y43N probably damaging Het
Grik1 G T 16: 87,737,539 (GRCm39) T585K possibly damaging Het
Hnf4g T C 3: 3,709,636 (GRCm39) I184T probably benign Het
Hsd11b1 G A 1: 192,904,354 (GRCm39) R282* probably null Het
Lig1 T A 7: 13,026,377 (GRCm39) probably benign Het
Or13l2 T C 3: 97,318,222 (GRCm39) K92E possibly damaging Het
Phip A G 9: 82,827,861 (GRCm39) S184P probably damaging Het
Pkhd1 C T 1: 20,592,971 (GRCm39) G1714D probably damaging Het
Plppr4 A G 3: 117,125,433 (GRCm39) probably benign Het
Prdm10 G A 9: 31,248,646 (GRCm39) R356Q probably damaging Het
Rasgrp1 C T 2: 117,131,059 (GRCm39) probably benign Het
Rpap1 C T 2: 119,613,135 (GRCm39) E138K probably benign Het
Sidt2 A C 9: 45,856,962 (GRCm39) probably null Het
Slc28a3 A G 13: 58,706,411 (GRCm39) L610P probably damaging Het
Slc39a10 T C 1: 46,858,599 (GRCm39) probably benign Het
Snx18 G A 13: 113,753,601 (GRCm39) A444V probably damaging Het
Svil A G 18: 5,092,899 (GRCm39) E1459G probably damaging Het
Tbc1d9 T C 8: 83,966,497 (GRCm39) L366P probably damaging Het
Tbk1 A T 10: 121,406,694 (GRCm39) H181Q probably damaging Het
Wrn C A 8: 33,800,777 (GRCm39) G612V probably benign Het
Xdh A G 17: 74,220,945 (GRCm39) Y595H probably damaging Het
Other mutations in Cfap58
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01688:Cfap58 APN 19 47,963,006 (GRCm39) missense probably benign 0.30
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
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
Posted On 2015-04-16