Incidental Mutation 'R9515:Cfap43'
ID 718517
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.111) question?
Stock # R9515 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 47723706-47825893 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 47773814 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 656 (Y656H)
Ref Sequence ENSEMBL: ENSMUSP00000125007 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000160247]
AlphaFold E9Q7R9
Predicted Effect probably damaging
Transcript: ENSMUST00000160247
AA Change: Y656H

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000125007
Gene: ENSMUSG00000044948
AA Change: Y656H

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
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: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2200002D01Rik CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC 7: 28,947,048 (GRCm39) probably benign Het
Aamdc A G 7: 97,224,808 (GRCm39) V18A probably benign Het
Adam12 T A 7: 133,509,373 (GRCm39) I796F probably benign Het
Adcy7 T A 8: 89,037,646 (GRCm39) V238E possibly damaging Het
Adgrv1 G A 13: 81,691,497 (GRCm39) H1697Y probably damaging Het
Adrb1 A G 19: 56,711,825 (GRCm39) D341G probably benign Het
Akap13 T C 7: 75,354,275 (GRCm39) Y80H probably benign Het
Akap9 C T 5: 4,105,709 (GRCm39) L2927F probably damaging Het
Alox8 T A 11: 69,075,950 (GRCm39) D667V probably damaging Het
Arhgap30 A G 1: 171,236,002 (GRCm39) E792G probably benign Het
Arhgef16 A G 4: 154,365,432 (GRCm39) V561A possibly damaging Het
Bcap29 A T 12: 31,676,756 (GRCm39) Y105N probably damaging Het
Best2 T A 8: 85,740,147 (GRCm39) T6S Het
Bfsp2 C A 9: 103,357,251 (GRCm39) V59L possibly damaging Het
Brd3 T A 2: 27,349,815 (GRCm39) D246V Het
Btnl1 T A 17: 34,600,118 (GRCm39) V207E probably benign Het
Ccdc122 T A 14: 77,329,408 (GRCm39) Y154N Het
Clca3a2 A T 3: 144,508,808 (GRCm39) Y670* probably null Het
Coprs T C 8: 13,935,081 (GRCm39) Y158C probably damaging Het
Desi2 T G 1: 178,084,170 (GRCm39) M106R unknown Het
Dnaaf3 T C 7: 4,531,100 (GRCm39) E111G probably damaging Het
Epha10 T A 4: 124,775,704 (GRCm39) F13I probably benign Het
Fam193a T A 5: 34,615,371 (GRCm39) F813L possibly damaging Het
Fbn1 C A 2: 125,207,551 (GRCm39) A981S probably benign Het
Gga2 T A 7: 121,611,448 (GRCm39) T37S probably damaging Het
Glra3 T A 8: 56,578,299 (GRCm39) F452Y probably damaging Het
Gm10338 T A 14: 19,280,438 (GRCm39) N96I probably damaging Het
Gpd2 A T 2: 57,195,866 (GRCm39) E149V possibly damaging Het
Gpr137c T G 14: 45,516,229 (GRCm39) L321* probably null Het
Gsdmc2 T C 15: 63,702,678 (GRCm39) I196M probably benign Het
Habp2 A G 19: 56,295,253 (GRCm39) D48G probably benign Het
Hdc G T 2: 126,458,149 (GRCm39) P58T probably damaging Het
Heatr5a AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGTGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA 12: 51,934,702 (GRCm39) probably benign Het
Hnrnpr G T 4: 136,063,615 (GRCm39) V342F probably damaging Het
Hyal6 T A 6: 24,734,929 (GRCm39) Y287* probably null Het
Igsf8 T C 1: 172,146,525 (GRCm39) Y571H Het
Kalrn A G 16: 33,854,864 (GRCm39) S1999P probably damaging Het
Lama2 T A 10: 26,877,170 (GRCm39) N2672I probably benign Het
Lrrc7 T C 3: 157,867,105 (GRCm39) R879G probably damaging Het
Lrwd1 T G 5: 136,160,413 (GRCm39) H307P probably benign Het
Mau2 T C 8: 70,480,153 (GRCm39) Y318C probably damaging Het
Med13 T C 11: 86,199,727 (GRCm39) Q660R probably benign Het
Mepce G C 5: 137,783,759 (GRCm39) P189R probably damaging Het
Mical3 T A 6: 121,001,758 (GRCm39) N578I probably damaging Het
Mug1 T C 6: 121,861,635 (GRCm39) S1366P probably damaging Het
Nol11 A T 11: 107,064,278 (GRCm39) D511E possibly damaging Het
Obscn T A 11: 58,994,340 (GRCm39) H1514L probably benign Het
Onecut3 C A 10: 80,331,887 (GRCm39) S349* probably null Het
Or2l13b C T 16: 19,349,026 (GRCm39) A215T probably benign Het
Or4f57 A G 2: 111,790,584 (GRCm39) V278A possibly damaging Het
Or5ap2b-ps1 A T 2: 85,693,922 (GRCm39) I56F probably damaging Het
Or5b110-ps1 G A 19: 13,259,558 (GRCm39) T288I unknown Het
Or7e169 A G 9: 19,757,816 (GRCm39) L33P possibly damaging Het
Or7g34 T C 9: 19,478,396 (GRCm39) I95V possibly damaging Het
Or8g18 T C 9: 39,149,625 (GRCm39) T32A probably benign Het
Patl2 C T 2: 121,955,374 (GRCm39) G297E probably benign Het
Pdlim5 G A 3: 142,010,111 (GRCm39) T168M probably damaging Het
Pdzd2 A C 15: 12,374,621 (GRCm39) L1838R probably damaging Het
Peg10 GC GCTCC 6: 4,756,452 (GRCm39) probably benign Het
Pkd1l3 T C 8: 110,395,849 (GRCm39) V2083A probably damaging Het
Pkhd1 T A 1: 20,637,741 (GRCm39) Y348F probably damaging Het
Plekhg5 T A 4: 152,198,826 (GRCm39) S1005T probably benign Het
Ppp4r1 T A 17: 66,142,073 (GRCm39) N709K probably null Het
Pramel32 T A 4: 88,546,219 (GRCm39) L374F possibly damaging Het
Pramel40 G A 5: 94,464,924 (GRCm39) V437I probably benign Het
Reln T C 5: 22,125,508 (GRCm39) D2725G possibly damaging Het
Rnf41 T A 10: 128,274,299 (GRCm39) I317K probably benign Het
Rxfp2 T C 5: 149,979,444 (GRCm39) V268A possibly damaging Het
Sema5a A G 15: 32,679,373 (GRCm39) H884R probably damaging Het
Serpinh1 A T 7: 98,996,484 (GRCm39) M236K probably damaging Het
Sh3pxd2a A G 19: 47,255,610 (GRCm39) L1064P probably damaging Het
Skint6 T C 4: 112,715,375 (GRCm39) H947R probably benign Het
Slc12a3 T A 8: 95,083,658 (GRCm39) M895K possibly damaging Het
Slc22a3 C A 17: 12,726,057 (GRCm39) R52L probably damaging Het
Slc38a1 A G 15: 96,487,965 (GRCm39) L180P probably damaging Het
Slc4a3 T C 1: 75,533,612 (GRCm39) V1078A probably damaging Het
Snx30 T A 4: 59,879,241 (GRCm39) V160E probably damaging Het
Spata18 A T 5: 73,829,840 (GRCm39) I332F Het
Stard9 C G 2: 120,534,564 (GRCm39) P3607R probably damaging Het
Svep1 T A 4: 58,084,144 (GRCm39) Y1876F possibly damaging Het
Sytl1 A G 4: 132,986,291 (GRCm39) probably null Het
Tacc2 A C 7: 130,366,041 (GRCm39) K567Q probably damaging Het
Tfr2 A G 5: 137,575,769 (GRCm39) D295G possibly damaging Het
Tmem53 C A 4: 117,125,122 (GRCm39) H78Q probably benign Het
Tnnt2 G A 1: 135,768,640 (GRCm39) E10K unknown Het
Top2a T A 11: 98,902,970 (GRCm39) I406F probably damaging Het
Ttc1 C A 11: 43,621,305 (GRCm39) R292I Het
Ubr1 T G 2: 120,703,627 (GRCm39) T1568P probably damaging Het
Usp25 T G 16: 76,852,076 (GRCm39) V197G probably damaging Het
Usp9y A T Y: 1,432,188 (GRCm39) N432K probably benign Het
Vmn2r26 T A 6: 124,038,137 (GRCm39) Y571N probably damaging Het
Zfp7 T C 15: 76,775,484 (GRCm39) S509P 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
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
R9732:Cfap43 UTSW 19 47,775,446 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TAGGGTTTCCATGAACATGCG -3'
(R):5'- GGATAGAATCCCCAGGTTTGAACC -3'

Sequencing Primer
(F):5'- ACTGAGTCTTCTGCAAGAGC -3'
(R):5'- GGTTTGAACCCGACCACATATG -3'
Posted On 2022-07-18