Incidental Mutation 'IGL01656:Cfap43'
ID 103012
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cfap43
Ensembl Gene ENSMUSG00000044948
Gene Name cilia and flagella associated protein 43
Synonyms D19Ertd652e, 4632415N18Rik, Wdr96, 4930428C11Rik, 4930463G05Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.117) question?
Stock # IGL01656
Quality Score
Status
Chromosome 19
Chromosomal Location 47723706-47825893 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 47740339 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 1278 (E1278G)
Ref Sequence ENSEMBL: ENSMUSP00000125007 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000160247]
AlphaFold E9Q7R9
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159999
Predicted Effect possibly damaging
Transcript: ENSMUST00000160247
AA Change: E1278G

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000125007
Gene: ENSMUSG00000044948
AA Change: E1278G

DomainStartEndE-ValueType
low complexity region 12 36 N/A INTRINSIC
Blast:WD40 70 111 6e-7 BLAST
Blast:WD40 115 156 1e-5 BLAST
Blast:WD40 162 197 8e-10 BLAST
WD40 349 388 1.07e0 SMART
Blast:WD40 392 432 3e-13 BLAST
WD40 435 473 3.96e1 SMART
WD40 479 518 3.82e1 SMART
Blast:WD40 638 683 8e-17 BLAST
Blast:WD40 689 728 1e-17 BLAST
low complexity region 766 781 N/A INTRINSIC
coiled coil region 855 886 N/A INTRINSIC
coiled coil region 925 961 N/A INTRINSIC
low complexity region 971 981 N/A INTRINSIC
coiled coil region 1170 1224 N/A INTRINSIC
low complexity region 1248 1259 N/A INTRINSIC
low complexity region 1268 1279 N/A INTRINSIC
low complexity region 1524 1529 N/A INTRINSIC
coiled coil region 1652 1671 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161832
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162657
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185078
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the cilia- and flagella-associated protein family. [provided by RefSeq, Sep 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit complete male sterility, asthenozoospermia, and teratozoospermia characterized by short, thick, and coiled flagella and sperm axonemal defects. [provided by MGI curators]
Allele List at MGI

All alleles(4) : Gene trapped(4)

Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acrbp A C 6: 125,030,675 (GRCm39) E232A possibly damaging Het
Anapc11 T A 11: 120,490,173 (GRCm39) F30I possibly damaging Het
Ap5z1 A G 5: 142,456,069 (GRCm39) D318G probably benign Het
Cylc1 A G X: 110,167,485 (GRCm39) T589A probably benign Het
Dcaf15 T C 8: 84,824,617 (GRCm39) I527V probably benign Het
Ddhd2 C T 8: 26,217,739 (GRCm39) V713I probably benign Het
Edc4 T C 8: 106,613,009 (GRCm39) V283A possibly damaging Het
Elf5 A G 2: 103,273,206 (GRCm39) probably benign Het
Flnb C T 14: 7,902,010 (GRCm38) probably benign Het
Flnc C T 6: 29,443,507 (GRCm39) probably benign Het
Fstl4 T C 11: 52,891,201 (GRCm39) L113P probably damaging Het
Gemin4 C T 11: 76,104,636 (GRCm39) V42M probably damaging Het
Gm10076 A G 14: 105,919,354 (GRCm39) noncoding transcript Het
Grina A G 15: 76,132,501 (GRCm39) Y116C probably damaging Het
Hectd4 T A 5: 121,460,763 (GRCm39) L914H probably damaging Het
Il17re T C 6: 113,439,934 (GRCm39) probably benign Het
Ivl G A 3: 92,478,962 (GRCm39) Q368* probably null Het
Kbtbd8 A G 6: 95,095,657 (GRCm39) H73R probably benign Het
Krt90 T A 15: 101,463,878 (GRCm39) Q392L probably damaging Het
Magea3 A T X: 153,732,137 (GRCm39) M122K probably damaging Het
Mapk8ip3 T C 17: 25,137,003 (GRCm39) D237G probably damaging Het
Nln T C 13: 104,198,249 (GRCm39) probably null Het
Nlrp4d T C 7: 10,098,074 (GRCm39) Y853C noncoding transcript Het
Nol11 T C 11: 107,079,998 (GRCm39) D29G probably benign Het
Nr3c2 C T 8: 77,914,166 (GRCm39) L791F probably damaging Het
Nup50l A G 6: 96,142,675 (GRCm39) V123A possibly damaging Het
Olfm3 T C 3: 114,916,282 (GRCm39) Y385H probably damaging Het
Or14j5 C T 17: 38,162,029 (GRCm39) P182L possibly damaging Het
Or51a8 A G 7: 102,550,472 (GRCm39) I299M possibly damaging Het
Or5b119 G A 19: 13,457,454 (GRCm39) A36V probably benign Het
Pklr G T 3: 89,052,302 (GRCm39) G505C probably damaging Het
Plxna2 A G 1: 194,472,469 (GRCm39) E1071G possibly damaging Het
Prkcq G T 2: 11,231,766 (GRCm39) A30S probably damaging Het
Rilpl1 A G 5: 124,641,712 (GRCm39) F104L probably damaging Het
Rsph6a C T 7: 18,788,770 (GRCm39) T34I probably benign Het
Sec23ip C T 7: 128,351,969 (GRCm39) P12L probably damaging Het
Slc25a21 A C 12: 56,785,280 (GRCm39) V199G probably damaging Het
Smc1b T C 15: 84,998,977 (GRCm39) E483G probably damaging Het
Sucnr1 T C 3: 59,993,832 (GRCm39) M120T possibly damaging Het
Tas2r116 T C 6: 132,832,396 (GRCm39) probably benign Het
Tbrg4 T A 11: 6,568,522 (GRCm39) Q419L possibly damaging Het
Tc2n A G 12: 101,615,348 (GRCm39) probably benign Het
Tgfbr2 A C 9: 115,938,737 (GRCm39) S388R probably damaging Het
Vmn2r1 A G 3: 63,989,274 (GRCm39) E71G probably damaging Het
Xpc A T 6: 91,482,449 (GRCm39) I176K probably damaging Het
Xylt1 G T 7: 117,148,228 (GRCm39) R264L probably damaging Het
Other mutations in Cfap43
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00158:Cfap43 APN 19 47,818,914 (GRCm39) missense probably benign 0.08
IGL00325:Cfap43 APN 19 47,811,627 (GRCm39) splice site probably benign
IGL00918:Cfap43 APN 19 47,885,100 (GRCm39) missense probably damaging 1.00
IGL01402:Cfap43 APN 19 47,784,105 (GRCm39) missense probably benign 0.25
IGL01404:Cfap43 APN 19 47,784,105 (GRCm39) missense probably benign 0.25
IGL01738:Cfap43 APN 19 47,785,624 (GRCm39) missense probably damaging 0.97
IGL02168:Cfap43 APN 19 47,740,362 (GRCm39) splice site probably benign
IGL02225:Cfap43 APN 19 47,800,616 (GRCm39) missense probably benign 0.00
IGL02308:Cfap43 APN 19 47,736,463 (GRCm39) missense probably benign
IGL02354:Cfap43 APN 19 47,885,852 (GRCm39) nonsense probably null
IGL02361:Cfap43 APN 19 47,885,852 (GRCm39) nonsense probably null
IGL03283:Cfap43 APN 19 47,779,851 (GRCm39) splice site probably benign
3-1:Cfap43 UTSW 19 47,740,294 (GRCm39) missense probably benign 0.02
IGL03046:Cfap43 UTSW 19 47,804,302 (GRCm39) missense probably damaging 1.00
PIT4495001:Cfap43 UTSW 19 47,885,741 (GRCm39) missense probably damaging 1.00
R0270:Cfap43 UTSW 19 47,785,642 (GRCm39) splice site probably benign
R0421:Cfap43 UTSW 19 47,824,014 (GRCm39) missense probably benign 0.00
R0433:Cfap43 UTSW 19 47,814,210 (GRCm39) missense probably benign 0.44
R0576:Cfap43 UTSW 19 47,785,579 (GRCm39) missense probably benign 0.00
R0646:Cfap43 UTSW 19 47,752,115 (GRCm39) missense probably benign 0.25
R0740:Cfap43 UTSW 19 47,824,243 (GRCm39) missense possibly damaging 0.95
R0836:Cfap43 UTSW 19 47,804,285 (GRCm39) missense probably benign 0.02
R0899:Cfap43 UTSW 19 47,736,433 (GRCm39) missense possibly damaging 0.93
R1171:Cfap43 UTSW 19 47,824,150 (GRCm39) missense probably benign 0.03
R1271:Cfap43 UTSW 19 47,736,387 (GRCm39) missense probably damaging 0.98
R1271:Cfap43 UTSW 19 47,728,183 (GRCm39) missense probably benign 0.22
R1371:Cfap43 UTSW 19 47,824,045 (GRCm39) missense possibly damaging 0.95
R1469:Cfap43 UTSW 19 47,885,314 (GRCm39) missense probably damaging 1.00
R1541:Cfap43 UTSW 19 47,752,291 (GRCm39) splice site probably null
R1625:Cfap43 UTSW 19 47,739,527 (GRCm39) missense probably damaging 1.00
R1679:Cfap43 UTSW 19 47,761,553 (GRCm39) missense probably benign 0.00
R1690:Cfap43 UTSW 19 47,739,505 (GRCm39) critical splice donor site probably null
R1820:Cfap43 UTSW 19 47,885,655 (GRCm39) missense probably damaging 0.99
R1891:Cfap43 UTSW 19 47,802,380 (GRCm39) missense probably damaging 0.97
R1956:Cfap43 UTSW 19 47,885,649 (GRCm39) missense probably benign 0.19
R1958:Cfap43 UTSW 19 47,885,649 (GRCm39) missense probably benign 0.19
R2110:Cfap43 UTSW 19 47,824,197 (GRCm39) missense probably damaging 1.00
R2118:Cfap43 UTSW 19 47,758,877 (GRCm39) missense probably damaging 1.00
R2290:Cfap43 UTSW 19 47,761,574 (GRCm39) missense probably damaging 0.99
R3691:Cfap43 UTSW 19 47,885,512 (GRCm39) missense probably benign 0.01
R3765:Cfap43 UTSW 19 47,824,014 (GRCm39) missense probably benign 0.01
R3917:Cfap43 UTSW 19 47,886,189 (GRCm39) missense probably benign 0.00
R3924:Cfap43 UTSW 19 47,785,555 (GRCm39) missense probably benign 0.00
R3925:Cfap43 UTSW 19 47,785,555 (GRCm39) missense probably benign 0.00
R3947:Cfap43 UTSW 19 47,754,418 (GRCm39) missense probably benign 0.28
R4256:Cfap43 UTSW 19 47,770,844 (GRCm39) missense probably benign 0.06
R4385:Cfap43 UTSW 19 47,785,568 (GRCm39) missense probably benign 0.28
R4395:Cfap43 UTSW 19 47,740,352 (GRCm39) missense probably benign 0.00
R4405:Cfap43 UTSW 19 47,728,236 (GRCm39) missense possibly damaging 0.57
R4541:Cfap43 UTSW 19 47,736,454 (GRCm39) missense probably benign 0.02
R4583:Cfap43 UTSW 19 47,825,655 (GRCm39) missense probably null 0.99
R4690:Cfap43 UTSW 19 47,736,298 (GRCm39) missense probably benign 0.45
R4852:Cfap43 UTSW 19 47,885,550 (GRCm39) missense possibly damaging 0.87
R5185:Cfap43 UTSW 19 47,768,833 (GRCm39) missense probably benign 0.00
R5192:Cfap43 UTSW 19 47,814,364 (GRCm39) missense probably damaging 1.00
R5196:Cfap43 UTSW 19 47,814,364 (GRCm39) missense probably damaging 1.00
R5197:Cfap43 UTSW 19 47,885,811 (GRCm39) missense probably damaging 1.00
R5205:Cfap43 UTSW 19 47,885,987 (GRCm39) missense possibly damaging 0.76
R5425:Cfap43 UTSW 19 47,885,371 (GRCm39) missense possibly damaging 0.94
R5516:Cfap43 UTSW 19 47,726,648 (GRCm39) splice site probably null
R5644:Cfap43 UTSW 19 47,784,114 (GRCm39) missense possibly damaging 0.66
R5844:Cfap43 UTSW 19 47,784,135 (GRCm39) missense probably benign
R5901:Cfap43 UTSW 19 47,885,538 (GRCm39) missense probably damaging 0.97
R5910:Cfap43 UTSW 19 47,768,710 (GRCm39) missense possibly damaging 0.63
R5920:Cfap43 UTSW 19 47,749,335 (GRCm39) missense possibly damaging 0.88
R5963:Cfap43 UTSW 19 47,734,013 (GRCm39) missense probably benign 0.42
R6817:Cfap43 UTSW 19 47,744,524 (GRCm39) missense possibly damaging 0.88
R6974:Cfap43 UTSW 19 47,773,717 (GRCm39) critical splice donor site probably null
R7219:Cfap43 UTSW 19 47,779,912 (GRCm39) missense probably benign 0.02
R7270:Cfap43 UTSW 19 47,728,224 (GRCm39) missense possibly damaging 0.86
R7733:Cfap43 UTSW 19 47,886,432 (GRCm39) missense possibly damaging 0.75
R7995:Cfap43 UTSW 19 47,886,462 (GRCm39) missense probably damaging 1.00
R8013:Cfap43 UTSW 19 47,761,548 (GRCm39) missense probably damaging 0.99
R8176:Cfap43 UTSW 19 47,784,114 (GRCm39) missense probably benign 0.00
R8242:Cfap43 UTSW 19 47,885,808 (GRCm39) missense probably damaging 1.00
R8303:Cfap43 UTSW 19 47,754,274 (GRCm39) nonsense probably null
R8333:Cfap43 UTSW 19 47,885,765 (GRCm39) nonsense probably null
R8353:Cfap43 UTSW 19 47,735,086 (GRCm39) missense probably damaging 1.00
R8453:Cfap43 UTSW 19 47,735,086 (GRCm39) missense probably damaging 1.00
R8474:Cfap43 UTSW 19 47,886,363 (GRCm39) missense probably benign 0.32
R8478:Cfap43 UTSW 19 47,764,515 (GRCm39) missense probably benign 0.02
R8676:Cfap43 UTSW 19 47,736,456 (GRCm39) missense possibly damaging 0.95
R8928:Cfap43 UTSW 19 47,804,399 (GRCm39) missense probably benign 0.00
R9190:Cfap43 UTSW 19 47,726,293 (GRCm39) missense possibly damaging 0.65
R9426:Cfap43 UTSW 19 47,814,237 (GRCm39) missense probably damaging 0.99
R9450:Cfap43 UTSW 19 47,886,310 (GRCm39) missense probably benign 0.23
R9491:Cfap43 UTSW 19 47,800,505 (GRCm39) critical splice donor site probably null
R9515:Cfap43 UTSW 19 47,773,814 (GRCm39) missense probably damaging 1.00
R9732:Cfap43 UTSW 19 47,775,446 (GRCm39) missense probably damaging 1.00
Posted On 2014-01-21