Incidental Mutation 'R6228:Cfap46'
ID 504474
Institutional Source Beutler Lab
Gene Symbol Cfap46
Ensembl Gene ENSMUSG00000049571
Gene Name cilia and flagella associated protein 46
Synonyms 9330101J02Rik, Ttc40
MMRRC Submission 044357-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6228 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 139180867-139263733 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 139236496 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 160 (D160G)
Ref Sequence ENSEMBL: ENSMUSP00000120463 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000129990] [ENSMUST00000140820] [ENSMUST00000155075]
AlphaFold E9Q2C0
Predicted Effect noncoding transcript
Transcript: ENSMUST00000118750
Predicted Effect probably damaging
Transcript: ENSMUST00000129990
AA Change: D608G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120186
Gene: ENSMUSG00000049571
AA Change: D608G

DomainStartEndE-ValueType
Blast:TPR 175 207 7e-11 BLAST
Blast:TPR 426 459 1e-11 BLAST
low complexity region 868 879 N/A INTRINSIC
Blast:TPR 936 969 2e-7 BLAST
Blast:TPR 1112 1145 1e-9 BLAST
coiled coil region 1347 1423 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000140820
AA Change: D608G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000121085
Gene: ENSMUSG00000049571
AA Change: D608G

DomainStartEndE-ValueType
Blast:TPR 175 208 5e-11 BLAST
Blast:TPR 426 459 8e-12 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000155075
AA Change: D160G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156116
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 95.9%
Validation Efficiency 100% (93/93)
Allele List at MGI
Other mutations in this stock
Total: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 G T 7: 45,679,680 (GRCm39) T9K probably benign Het
Ankrd28 T C 14: 31,429,177 (GRCm39) H925R probably damaging Het
Antxrl A T 14: 33,778,556 (GRCm39) T128S probably damaging Het
Atosa A G 9: 74,913,645 (GRCm39) M100V possibly damaging Het
Atp8b5 T C 4: 43,304,674 (GRCm39) Y62H probably damaging Het
Bmpr2 G T 1: 59,906,595 (GRCm39) V563L probably benign Het
Btn1a1 A T 13: 23,648,521 (GRCm39) L104Q probably damaging Het
Caskin1 C G 17: 24,726,154 (GRCm39) D1420E probably damaging Het
Cdc14a A T 3: 116,144,862 (GRCm39) I150N probably damaging Het
Cdc26 C T 4: 62,321,031 (GRCm39) R4Q probably damaging Het
Cxcr4 A C 1: 128,519,920 (GRCm39) probably null Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dgat1 T C 15: 76,387,493 (GRCm39) N317S possibly damaging Het
Disp1 G A 1: 182,880,589 (GRCm39) T228M possibly damaging Het
Dixdc1 A C 9: 50,614,656 (GRCm39) probably null Het
Dnase1l2 C A 17: 24,661,492 (GRCm39) probably benign Het
Dsg2 T C 18: 20,727,350 (GRCm39) probably null Het
Duox2 A T 2: 122,117,674 (GRCm39) F887I probably benign Het
Duxf4 A G 10: 58,071,344 (GRCm39) M290T probably benign Het
Efcab6 T C 15: 83,851,825 (GRCm39) D351G possibly damaging Het
Ep400 A G 5: 110,818,808 (GRCm39) V2621A probably damaging Het
Epg5 G T 18: 77,991,677 (GRCm39) V125F possibly damaging Het
Ephb1 T C 9: 101,800,783 (GRCm39) R953G probably damaging Het
Etfdh G T 3: 79,519,336 (GRCm39) Y272* probably null Het
Fam117b A G 1: 60,008,207 (GRCm39) E347G probably damaging Het
Gfra3 A T 18: 34,828,846 (GRCm39) C183S probably damaging Het
Gmip A G 8: 70,268,773 (GRCm39) D466G probably damaging Het
Golga5 G A 12: 102,450,740 (GRCm39) M464I probably benign Het
Gpd1 A T 15: 99,621,146 (GRCm39) Q320L possibly damaging Het
H2-Oa G T 17: 34,312,851 (GRCm39) D43Y probably damaging Het
Hecw1 T A 13: 14,520,623 (GRCm39) I205F probably damaging Het
Ighv8-13 A G 12: 115,728,973 (GRCm39) Y95H probably damaging Het
Igkv6-20 T C 6: 70,313,081 (GRCm39) M31V possibly damaging Het
Itih1 T C 14: 30,653,217 (GRCm39) D737G probably benign Het
Kcnc4 G C 3: 107,355,693 (GRCm39) H252D probably damaging Het
Kcnj14 T A 7: 45,468,921 (GRCm39) T195S probably damaging Het
Limch1 A T 5: 67,173,845 (GRCm39) D642V probably damaging Het
Lrp2 T G 2: 69,312,710 (GRCm39) D2526A possibly damaging Het
Lrrc8a A G 2: 30,146,565 (GRCm39) T460A possibly damaging Het
Lrrn4cl A G 19: 8,829,135 (GRCm39) T38A probably benign Het
Lypd8 A T 11: 58,277,629 (GRCm39) Q137L possibly damaging Het
Mapkapk3 A G 9: 107,137,262 (GRCm39) Y206H probably damaging Het
Mrc1 G A 2: 14,276,115 (GRCm39) G483D probably benign Het
Mrpl35 C A 6: 71,800,661 (GRCm39) probably benign Het
Mycbp2 T A 14: 103,497,665 (GRCm39) H936L probably benign Het
Myh3 A T 11: 66,978,312 (GRCm39) Y433F probably benign Het
Napb C T 2: 148,540,098 (GRCm39) probably null Het
Nbeal1 C A 1: 60,335,083 (GRCm39) Q2288K probably benign Het
Ndst3 G A 3: 123,465,301 (GRCm39) Q224* probably null Het
Nkapd1 A G 9: 50,518,971 (GRCm39) S214P possibly damaging Het
Nkd2 A G 13: 73,969,579 (GRCm39) S284P probably benign Het
Or10a2 T C 7: 106,673,343 (GRCm39) Y103H probably damaging Het
Or5b12 A T 19: 12,897,301 (GRCm39) V124E probably damaging Het
Or6k2 G A 1: 173,979,712 (GRCm39) S210N probably benign Het
Or8h10 T C 2: 86,809,035 (GRCm39) Y35C probably damaging Het
Pcdhb8 A G 18: 37,490,037 (GRCm39) T572A probably benign Het
Pcdhb9 A G 18: 37,535,115 (GRCm39) I370V probably benign Het
Pcsk5 T G 19: 17,558,631 (GRCm39) E592A possibly damaging Het
Pigc T C 1: 161,798,036 (GRCm39) V6A probably benign Het
Pla2g6 T G 15: 79,189,924 (GRCm39) I389L probably benign Het
Pnliprp2 T C 19: 58,751,874 (GRCm39) probably null Het
Psmb11 T C 14: 54,863,646 (GRCm39) V288A probably benign Het
Rapgef5 A G 12: 117,685,398 (GRCm39) probably null Het
Rcn3 T C 7: 44,732,720 (GRCm39) N316S probably damaging Het
Rgs6 A G 12: 83,112,738 (GRCm39) K183E probably damaging Het
Rhoc A G 3: 104,700,297 (GRCm39) probably null Het
Serinc5 T C 13: 92,844,616 (GRCm39) C453R probably damaging Het
Slc14a1 A C 18: 78,159,614 (GRCm39) M93R probably damaging Het
Slc25a3 A T 10: 90,958,090 (GRCm39) D83E probably damaging Het
Slc36a3 T C 11: 55,015,777 (GRCm39) Y459C probably benign Het
Slc44a5 A T 3: 153,944,800 (GRCm39) Y139F probably benign Het
Spag17 A T 3: 99,929,918 (GRCm39) Q539L probably benign Het
Stap2 C T 17: 56,306,976 (GRCm39) V234M probably damaging Het
Stard9 A G 2: 120,544,231 (GRCm39) Y4450C probably damaging Het
Taf6l C T 19: 8,756,030 (GRCm39) R206Q probably benign Het
Tbc1d23 C T 16: 57,003,266 (GRCm39) V501I probably damaging Het
Thap2 T C 10: 115,208,751 (GRCm39) H123R probably damaging Het
Tlx3 C A 11: 33,152,432 (GRCm39) W221L probably benign Het
Tmem262 T A 19: 6,130,567 (GRCm39) probably null Het
Tpmt C A 13: 47,180,735 (GRCm39) R201S probably benign Het
Trpm6 T C 19: 18,831,655 (GRCm39) S1507P probably damaging Het
Ttc9c T C 19: 8,795,847 (GRCm39) E64G possibly damaging Het
Ttn A T 2: 76,640,790 (GRCm39) S13653T probably damaging Het
Ugt3a1 G T 15: 9,310,726 (GRCm39) W336L possibly damaging Het
Vmn1r215 C A 13: 23,260,633 (GRCm39) N224K probably benign Het
Vmn2r59 C T 7: 41,691,835 (GRCm39) probably null Het
Wdfy3 A G 5: 102,046,295 (GRCm39) S1853P possibly damaging Het
Wdr36 A T 18: 32,975,059 (GRCm39) Y137F possibly damaging Het
Zdhhc17 T C 10: 110,792,216 (GRCm39) D324G probably benign Het
Zfp217 T C 2: 169,961,497 (GRCm39) T277A probably benign Het
Zfp451 A G 1: 33,842,219 (GRCm39) probably benign Het
Zfp709 TCGACG TCG 8: 72,644,552 (GRCm39) probably benign Het
Zfp871 T C 17: 32,994,858 (GRCm39) S106G possibly damaging Het
Other mutations in Cfap46
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00480:Cfap46 APN 7 139,240,605 (GRCm39) missense probably damaging 0.96
IGL00493:Cfap46 APN 7 139,194,359 (GRCm39) missense probably benign 0.06
IGL00505:Cfap46 APN 7 139,240,605 (GRCm39) missense probably damaging 0.96
IGL00508:Cfap46 APN 7 139,240,605 (GRCm39) missense probably damaging 0.96
IGL00514:Cfap46 APN 7 139,240,605 (GRCm39) missense probably damaging 0.96
IGL01394:Cfap46 APN 7 139,246,895 (GRCm39) missense probably damaging 1.00
IGL01621:Cfap46 APN 7 139,186,523 (GRCm39) missense unknown
IGL02171:Cfap46 APN 7 139,246,972 (GRCm39) missense possibly damaging 0.86
IGL02343:Cfap46 APN 7 139,262,425 (GRCm39) missense probably damaging 0.99
IGL02679:Cfap46 APN 7 139,194,386 (GRCm39) missense probably damaging 0.99
IGL02687:Cfap46 APN 7 139,187,117 (GRCm39) missense probably damaging 0.99
IGL03180:Cfap46 APN 7 139,183,168 (GRCm39) missense unknown
IGL03329:Cfap46 APN 7 139,181,081 (GRCm39) missense probably damaging 0.99
FR4449:Cfap46 UTSW 7 139,218,711 (GRCm39) utr 3 prime probably benign
FR4737:Cfap46 UTSW 7 139,218,846 (GRCm39) utr 3 prime probably benign
FR4976:Cfap46 UTSW 7 139,218,846 (GRCm39) utr 3 prime probably benign
PIT4651001:Cfap46 UTSW 7 139,225,467 (GRCm39) missense
R0051:Cfap46 UTSW 7 139,255,951 (GRCm39) missense probably damaging 1.00
R0051:Cfap46 UTSW 7 139,255,951 (GRCm39) missense probably damaging 1.00
R0318:Cfap46 UTSW 7 139,234,482 (GRCm39) missense probably damaging 1.00
R0358:Cfap46 UTSW 7 139,231,449 (GRCm39) splice site probably benign
R0650:Cfap46 UTSW 7 139,185,571 (GRCm39) missense unknown
R0675:Cfap46 UTSW 7 139,255,950 (GRCm39) missense probably damaging 1.00
R0750:Cfap46 UTSW 7 139,234,586 (GRCm39) missense probably damaging 1.00
R0931:Cfap46 UTSW 7 139,235,757 (GRCm39) missense probably damaging 1.00
R1024:Cfap46 UTSW 7 139,222,513 (GRCm39) missense probably benign 0.42
R1251:Cfap46 UTSW 7 139,181,181 (GRCm39) missense probably benign 0.40
R1257:Cfap46 UTSW 7 139,234,545 (GRCm39) nonsense probably null
R1538:Cfap46 UTSW 7 139,262,924 (GRCm39) missense probably null 1.00
R1618:Cfap46 UTSW 7 139,232,726 (GRCm39) missense probably benign 0.04
R1655:Cfap46 UTSW 7 139,222,436 (GRCm39) nonsense probably null
R1824:Cfap46 UTSW 7 139,219,518 (GRCm39) missense probably benign 0.12
R1830:Cfap46 UTSW 7 139,220,323 (GRCm39) missense possibly damaging 0.92
R1857:Cfap46 UTSW 7 139,233,324 (GRCm39) missense probably damaging 1.00
R1870:Cfap46 UTSW 7 139,263,386 (GRCm39) missense probably damaging 1.00
R1945:Cfap46 UTSW 7 139,259,819 (GRCm39) missense probably damaging 1.00
R1962:Cfap46 UTSW 7 139,246,957 (GRCm39) missense probably damaging 1.00
R2108:Cfap46 UTSW 7 139,263,677 (GRCm39) missense probably benign 0.03
R2354:Cfap46 UTSW 7 139,240,962 (GRCm39) missense probably damaging 0.99
R2367:Cfap46 UTSW 7 139,233,414 (GRCm39) missense probably damaging 0.99
R3237:Cfap46 UTSW 7 139,197,506 (GRCm39) missense probably damaging 1.00
R3617:Cfap46 UTSW 7 139,219,515 (GRCm39) missense probably benign 0.06
R3949:Cfap46 UTSW 7 139,258,467 (GRCm39) missense probably benign 0.12
R4239:Cfap46 UTSW 7 139,246,203 (GRCm39) missense possibly damaging 0.74
R4240:Cfap46 UTSW 7 139,246,203 (GRCm39) missense possibly damaging 0.74
R4297:Cfap46 UTSW 7 139,232,589 (GRCm39) missense probably benign 0.27
R4365:Cfap46 UTSW 7 139,230,868 (GRCm39) missense probably damaging 0.99
R4516:Cfap46 UTSW 7 139,239,998 (GRCm39) intron probably benign
R4595:Cfap46 UTSW 7 139,232,320 (GRCm39) missense possibly damaging 0.74
R4627:Cfap46 UTSW 7 139,260,843 (GRCm39) missense probably damaging 1.00
R4627:Cfap46 UTSW 7 139,237,197 (GRCm39) missense probably damaging 0.99
R4628:Cfap46 UTSW 7 139,260,843 (GRCm39) missense probably damaging 1.00
R4629:Cfap46 UTSW 7 139,260,843 (GRCm39) missense probably damaging 1.00
R4687:Cfap46 UTSW 7 139,207,372 (GRCm39) missense possibly damaging 0.79
R4750:Cfap46 UTSW 7 139,259,239 (GRCm39) critical splice donor site probably null
R4771:Cfap46 UTSW 7 139,210,524 (GRCm39) missense probably null
R4779:Cfap46 UTSW 7 139,239,731 (GRCm39) intron probably benign
R4812:Cfap46 UTSW 7 139,215,916 (GRCm39) missense probably damaging 1.00
R4974:Cfap46 UTSW 7 139,187,104 (GRCm39) critical splice donor site probably null
R5014:Cfap46 UTSW 7 139,207,291 (GRCm39) missense probably benign 0.12
R5033:Cfap46 UTSW 7 139,183,776 (GRCm39) missense probably benign 0.00
R5055:Cfap46 UTSW 7 139,241,106 (GRCm39) missense probably damaging 1.00
R5254:Cfap46 UTSW 7 139,258,430 (GRCm39) missense possibly damaging 0.77
R5288:Cfap46 UTSW 7 139,193,423 (GRCm39) critical splice donor site probably null
R5366:Cfap46 UTSW 7 139,230,802 (GRCm39) missense probably damaging 1.00
R5368:Cfap46 UTSW 7 139,207,389 (GRCm39) missense possibly damaging 0.77
R5371:Cfap46 UTSW 7 139,212,097 (GRCm39) splice site probably null
R5642:Cfap46 UTSW 7 139,258,493 (GRCm39) missense probably damaging 1.00
R5690:Cfap46 UTSW 7 139,218,269 (GRCm39) missense probably benign 0.01
R5691:Cfap46 UTSW 7 139,186,616 (GRCm39) missense possibly damaging 0.49
R5696:Cfap46 UTSW 7 139,191,947 (GRCm39) missense probably damaging 1.00
R5844:Cfap46 UTSW 7 139,230,858 (GRCm39) missense probably damaging 0.99
R5963:Cfap46 UTSW 7 139,231,511 (GRCm39) missense probably damaging 0.97
R6217:Cfap46 UTSW 7 139,218,816 (GRCm39) utr 3 prime probably benign
R6251:Cfap46 UTSW 7 139,218,816 (GRCm39) utr 3 prime probably benign
R6253:Cfap46 UTSW 7 139,218,816 (GRCm39) utr 3 prime probably benign
R6285:Cfap46 UTSW 7 139,241,001 (GRCm39) missense probably damaging 1.00
R6334:Cfap46 UTSW 7 139,260,747 (GRCm39) missense probably damaging 1.00
R6520:Cfap46 UTSW 7 139,194,321 (GRCm39) critical splice donor site probably null
R6736:Cfap46 UTSW 7 139,199,887 (GRCm39) missense possibly damaging 0.92
R6760:Cfap46 UTSW 7 139,232,356 (GRCm39) missense probably damaging 1.00
R6773:Cfap46 UTSW 7 139,222,477 (GRCm39) utr 3 prime probably benign
R6835:Cfap46 UTSW 7 139,232,414 (GRCm39) missense probably damaging 0.98
R6903:Cfap46 UTSW 7 139,234,477 (GRCm39) critical splice donor site probably null
R6912:Cfap46 UTSW 7 139,219,616 (GRCm39) missense probably benign 0.09
R7163:Cfap46 UTSW 7 139,197,994 (GRCm39) critical splice donor site probably null
R7232:Cfap46 UTSW 7 139,197,493 (GRCm39) missense unknown
R7327:Cfap46 UTSW 7 139,215,062 (GRCm39) splice site probably null
R7336:Cfap46 UTSW 7 139,200,020 (GRCm39) missense unknown
R7337:Cfap46 UTSW 7 139,210,492 (GRCm39) critical splice donor site probably null
R7437:Cfap46 UTSW 7 139,230,753 (GRCm39) nonsense probably null
R7450:Cfap46 UTSW 7 139,197,353 (GRCm39) missense unknown
R7495:Cfap46 UTSW 7 139,183,112 (GRCm39) critical splice donor site probably null
R7618:Cfap46 UTSW 7 139,183,155 (GRCm39) missense
R7623:Cfap46 UTSW 7 139,198,266 (GRCm39) missense unknown
R7765:Cfap46 UTSW 7 139,231,480 (GRCm39) missense
R7971:Cfap46 UTSW 7 139,215,043 (GRCm39) missense unknown
R8211:Cfap46 UTSW 7 139,213,220 (GRCm39) missense unknown
R8306:Cfap46 UTSW 7 139,236,496 (GRCm39) missense
R8354:Cfap46 UTSW 7 139,233,414 (GRCm39) missense probably benign 0.03
R8365:Cfap46 UTSW 7 139,263,000 (GRCm39) nonsense probably null
R8447:Cfap46 UTSW 7 139,260,902 (GRCm39) missense possibly damaging 0.90
R8715:Cfap46 UTSW 7 139,185,560 (GRCm39) missense
R8805:Cfap46 UTSW 7 139,211,979 (GRCm39) missense unknown
R8830:Cfap46 UTSW 7 139,195,565 (GRCm39) missense unknown
R8912:Cfap46 UTSW 7 139,260,097 (GRCm39) intron probably benign
R8920:Cfap46 UTSW 7 139,232,442 (GRCm39) missense
R8977:Cfap46 UTSW 7 139,259,849 (GRCm39) missense probably benign 0.01
R9048:Cfap46 UTSW 7 139,207,259 (GRCm39) missense unknown
R9224:Cfap46 UTSW 7 139,258,416 (GRCm39) nonsense probably null
R9243:Cfap46 UTSW 7 139,195,265 (GRCm39) intron probably benign
R9252:Cfap46 UTSW 7 139,198,165 (GRCm39) missense unknown
R9276:Cfap46 UTSW 7 139,201,207 (GRCm39) missense unknown
R9301:Cfap46 UTSW 7 139,222,461 (GRCm39) missense
R9391:Cfap46 UTSW 7 139,198,027 (GRCm39) missense unknown
R9402:Cfap46 UTSW 7 139,215,865 (GRCm39) missense unknown
R9443:Cfap46 UTSW 7 139,195,023 (GRCm39) missense
R9564:Cfap46 UTSW 7 139,231,471 (GRCm39) missense
R9625:Cfap46 UTSW 7 139,230,805 (GRCm39) missense
R9626:Cfap46 UTSW 7 139,230,805 (GRCm39) missense
R9638:Cfap46 UTSW 7 139,209,763 (GRCm39) missense unknown
R9656:Cfap46 UTSW 7 139,235,816 (GRCm39) missense
R9658:Cfap46 UTSW 7 139,246,229 (GRCm39) missense
R9747:Cfap46 UTSW 7 139,191,907 (GRCm39) missense unknown
RF023:Cfap46 UTSW 7 139,218,834 (GRCm39)
W0251:Cfap46 UTSW 7 139,183,862 (GRCm39) missense probably benign 0.11
X0018:Cfap46 UTSW 7 139,260,828 (GRCm39) missense probably benign 0.03
X0064:Cfap46 UTSW 7 139,183,363 (GRCm39) missense probably benign 0.01
Z1088:Cfap46 UTSW 7 139,214,980 (GRCm39) missense probably damaging 0.96
Z1176:Cfap46 UTSW 7 139,219,464 (GRCm39) missense
Z1177:Cfap46 UTSW 7 139,210,542 (GRCm39) missense unknown
Z1177:Cfap46 UTSW 7 139,181,183 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- GTTGCTCTCTGTGACAAGACTCC -3'
(R):5'- TTGACACCTGGCCCTGTATG -3'

Sequencing Primer
(F):5'- TCTCTGTGACAAGACTCCTCTAAAC -3'
(R):5'- GCCCTGTATGGTGGCTCCTC -3'
Posted On 2018-02-28