Incidental Mutation 'R1891:Cfap43'
ID 211556
Institutional Source Beutler Lab
Gene Symbol Cfap43
Ensembl Gene ENSMUSG00000044948
Gene Name cilia and flagella associated protein 43
Synonyms D19Ertd652e, 4632415N18Rik, Wdr96, 4930428C11Rik, 4930463G05Rik
MMRRC Submission 039911-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.117) question?
Stock # R1891 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 47723706-47825893 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 47802380 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 333 (L333P)
Ref Sequence ENSEMBL: ENSMUSP00000125007 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000160247]
AlphaFold E9Q7R9
Predicted Effect noncoding transcript
Transcript: ENSMUST00000026048
Predicted Effect probably damaging
Transcript: ENSMUST00000160247
AA Change: L333P

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000125007
Gene: ENSMUSG00000044948
AA Change: L333P

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: ENSMUST00000160970
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.4%
  • 20x: 92.7%
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: 96 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T C 10: 79,840,874 (GRCm39) I921T possibly damaging Het
Abca8a T C 11: 109,982,433 (GRCm39) K3R probably benign Het
Adgrl3 A T 5: 81,659,891 (GRCm39) D152V probably damaging Het
Akap6 A T 12: 53,188,958 (GRCm39) D2124V possibly damaging Het
Akt1 A G 12: 112,626,009 (GRCm39) F88L probably damaging Het
Ankrd24 T C 10: 81,479,342 (GRCm39) probably benign Het
Arid4b T A 13: 14,310,821 (GRCm39) N141K possibly damaging Het
Cacna1c C A 6: 118,753,480 (GRCm39) D219Y probably damaging Het
Ccdc113 A G 8: 96,267,544 (GRCm39) K170E probably damaging Het
Ceacam9 A G 7: 16,457,880 (GRCm39) E136G probably damaging Het
Chl1 A G 6: 103,691,544 (GRCm39) D1062G possibly damaging Het
Cimip4 T A 15: 78,262,952 (GRCm39) D234V probably damaging Het
Ckb TCCACCACCA TCCACCA 12: 111,636,079 (GRCm39) probably benign Het
Clpp T A 17: 57,298,307 (GRCm39) V91E probably damaging Het
Cndp1 A T 18: 84,637,758 (GRCm39) H325Q probably null Het
Cngb3 A G 4: 19,366,446 (GRCm39) N169S probably benign Het
Cog6 A C 3: 52,890,601 (GRCm39) I613R probably benign Het
Creb3l1 A G 2: 91,817,385 (GRCm39) L376P probably damaging Het
Cry2 A T 2: 92,243,985 (GRCm39) V396D possibly damaging Het
Cxxc5 A G 18: 35,992,318 (GRCm39) M240V possibly damaging Het
Defa28 G A 8: 22,073,801 (GRCm39) C68Y probably damaging Het
Ecd A G 14: 20,388,227 (GRCm39) I187T probably damaging Het
Erg28 A G 12: 85,862,962 (GRCm39) S117P probably benign Het
Ergic2 A T 6: 148,084,577 (GRCm39) C319S probably damaging Het
Ess2 C T 16: 17,725,644 (GRCm39) W183* probably null Het
Evc2 A C 5: 37,549,423 (GRCm39) D773A probably damaging Het
Fam151b T A 13: 92,586,678 (GRCm39) T252S probably benign Het
Fbxo28 A T 1: 182,145,389 (GRCm39) M233K probably benign Het
Fbxw26 T G 9: 109,551,232 (GRCm39) D355A probably benign Het
Gm4884 G C 7: 40,692,539 (GRCm39) E169D possibly damaging Het
Hk2 C T 6: 82,726,264 (GRCm39) R94Q probably benign Het
Hps4 G A 5: 112,517,422 (GRCm39) probably null Het
Hspg2 T A 4: 137,292,801 (GRCm39) D4126E probably damaging Het
Kif13a T C 13: 47,082,695 (GRCm39) E48G possibly damaging Het
Krt31 T A 11: 99,938,634 (GRCm39) N320Y probably damaging Het
Lca5 T C 9: 83,277,661 (GRCm39) Y561C probably damaging Het
Lrrk1 G A 7: 65,929,048 (GRCm39) L1195F probably damaging Het
Ly6g6d A C 17: 35,293,269 (GRCm39) Y25* probably null Het
Map3k13 T G 16: 21,729,836 (GRCm39) M489R probably damaging Het
Mcm6 C T 1: 128,263,547 (GRCm39) R658H probably damaging Het
Mecp2 C T X: 73,080,781 (GRCm39) A79T probably damaging Het
Mitf A G 6: 97,918,237 (GRCm39) T94A probably benign Het
Mpo T A 11: 87,692,106 (GRCm39) L513* probably null Het
Mst1r T A 9: 107,790,661 (GRCm39) N722K probably damaging Het
Mthfd1l T A 10: 3,982,284 (GRCm39) L497* probably null Het
Mtus1 C T 8: 41,537,362 (GRCm39) S118N probably damaging Het
Mybbp1a C T 11: 72,336,863 (GRCm39) T565I probably benign Het
Naip2 C T 13: 100,291,395 (GRCm39) R1181K probably benign Het
Nbas T C 12: 13,440,973 (GRCm39) M1101T possibly damaging Het
Odad3 G T 9: 21,906,677 (GRCm39) probably null Het
Or2y1b T C 11: 49,208,684 (GRCm39) F104L probably benign Het
Or4f60 A T 2: 111,902,739 (GRCm39) L63Q probably damaging Het
Or52l1 A T 7: 104,829,754 (GRCm39) Y270* probably null Het
Or5ae1 T A 7: 84,565,461 (GRCm39) V158D possibly damaging Het
Or6c33 T C 10: 129,853,439 (GRCm39) S70P probably damaging Het
Or7a40 T A 16: 16,491,441 (GRCm39) I135F probably damaging Het
Or7g20 T C 9: 18,947,274 (GRCm39) L285S probably damaging Het
Or8b12b T A 9: 37,684,163 (GRCm39) D69E possibly damaging Het
Oxct2b A G 4: 123,010,938 (GRCm39) D286G probably benign Het
Pax5 A T 4: 44,691,859 (GRCm39) V129E probably damaging Het
Pax7 G A 4: 139,511,937 (GRCm39) R215C probably damaging Het
Pcdh7 A T 5: 57,878,217 (GRCm39) I591F probably damaging Het
Pcdhb22 T C 18: 37,652,357 (GRCm39) V275A probably damaging Het
Pkp3 C T 7: 140,663,969 (GRCm39) probably null Het
Plekhb1 A G 7: 100,304,599 (GRCm39) L35P probably damaging Het
Pole T A 5: 110,480,408 (GRCm39) F1993Y probably damaging Het
Pramel28 A T 4: 143,693,235 (GRCm39) V81E probably damaging Het
Prdx1 T C 4: 116,556,451 (GRCm39) *200R probably null Het
Prkdc C A 16: 15,543,300 (GRCm39) T1777N probably benign Het
Prss59 A T 6: 40,902,967 (GRCm39) M135K possibly damaging Het
Ptpn14 G A 1: 189,530,850 (GRCm39) V106M probably damaging Het
Ptpn23 T C 9: 110,222,868 (GRCm39) E63G possibly damaging Het
Qser1 A C 2: 104,620,444 (GRCm39) S123A probably benign Het
Rbm11 A G 16: 75,397,675 (GRCm39) N202D possibly damaging Het
Robo3 T A 9: 37,339,351 (GRCm39) Y212F probably damaging Het
Sde2 G A 1: 180,687,573 (GRCm39) S153N probably benign Het
Serpinb1c T A 13: 33,068,235 (GRCm39) D179V probably benign Het
Skint6 T C 4: 112,703,893 (GRCm39) D994G possibly damaging Het
Sorbs1 A G 19: 40,381,904 (GRCm39) S46P probably damaging Het
St8sia4 T C 1: 95,519,433 (GRCm39) T352A possibly damaging Het
Stab1 C A 14: 30,863,287 (GRCm39) R2133L probably benign Het
Stk11ip T C 1: 75,509,060 (GRCm39) C730R probably benign Het
Tedc2 C A 17: 24,435,292 (GRCm39) E366* probably null Het
Tedc2 T A 17: 24,435,291 (GRCm39) E366V probably damaging Het
Tle4 A T 19: 14,522,150 (GRCm39) probably null Het
Tmem200a T A 10: 25,869,970 (GRCm39) N100Y probably damaging Het
Tnnt2 A T 1: 135,768,597 (GRCm39) probably null Het
Ttn T A 2: 76,706,302 (GRCm39) probably benign Het
Ubac1 A G 2: 25,904,974 (GRCm39) V88A probably benign Het
Urgcp T C 11: 5,666,910 (GRCm39) E476G probably benign Het
Vmn1r201 G A 13: 22,659,425 (GRCm39) R213H probably benign Het
Vmn2r84 C T 10: 130,221,938 (GRCm39) V761M possibly damaging Het
Vwde A T 6: 13,187,454 (GRCm39) Y678N probably damaging Het
Wnk2 C A 13: 49,206,200 (GRCm39) E1865* probably null Het
Zc3h3 A C 15: 75,628,780 (GRCm39) M838R possibly damaging Het
Zfp959 T A 17: 56,204,604 (GRCm39) C211S 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
IGL01656:Cfap43 APN 19 47,740,339 (GRCm39) missense possibly damaging 0.95
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
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
Predicted Primers PCR Primer
(F):5'- CATGGCTTTCAACAGGGAAAC -3'
(R):5'- CCTTTTCCAGTCTCTGATGGGG -3'

Sequencing Primer
(F):5'- AGAGAGAGTGTGTGTGCt -3'
(R):5'- CATTTCTGCATAGGCGTGTAAC -3'
Posted On 2014-06-30