Incidental Mutation 'R1920:Cfap70'
ID 212984
Institutional Source Beutler Lab
Gene Symbol Cfap70
Ensembl Gene ENSMUSG00000039543
Gene Name cilia and flagella associated protein 70
Synonyms 5330402L21Rik, Ttc18
MMRRC Submission 039938-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # R1920 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 20444261-20502294 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 20445020 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 1087 (A1087T)
Ref Sequence ENSEMBL: ENSMUSP00000056869 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022348] [ENSMUST00000022349] [ENSMUST00000056073] [ENSMUST00000061444]
AlphaFold D3YVL2
Predicted Effect probably damaging
Transcript: ENSMUST00000022348
AA Change: A1043T

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000022348
Gene: ENSMUSG00000039543
AA Change: A1043T

DomainStartEndE-ValueType
Blast:C2 11 122 5e-44 BLAST
low complexity region 494 503 N/A INTRINSIC
low complexity region 581 590 N/A INTRINSIC
Blast:TPR 591 623 2e-11 BLAST
Blast:TPR 624 657 3e-15 BLAST
TPR 658 691 1.73e1 SMART
Blast:TPR 693 724 2e-7 BLAST
TPR 905 938 1.26e1 SMART
TPR 939 972 5.03e-1 SMART
TPR 976 1009 2.52e-1 SMART
TPR 1043 1076 2.07e1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000022349
AA Change: A1070T

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000022349
Gene: ENSMUSG00000039543
AA Change: A1070T

DomainStartEndE-ValueType
Blast:C2 11 122 5e-44 BLAST
low complexity region 438 447 N/A INTRINSIC
low complexity region 569 578 N/A INTRINSIC
Blast:TPR 579 611 2e-11 BLAST
Blast:TPR 612 645 3e-15 BLAST
TPR 646 679 1.73e1 SMART
Blast:TPR 681 712 2e-7 BLAST
TPR 932 965 1.26e1 SMART
TPR 966 999 5.03e-1 SMART
TPR 1003 1036 2.52e-1 SMART
TPR 1070 1103 2.07e1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000056073
AA Change: A1087T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000056869
Gene: ENSMUSG00000039543
AA Change: A1087T

DomainStartEndE-ValueType
Blast:C2 11 122 5e-44 BLAST
low complexity region 494 503 N/A INTRINSIC
low complexity region 625 634 N/A INTRINSIC
Blast:TPR 635 667 2e-11 BLAST
Blast:TPR 668 701 3e-15 BLAST
TPR 702 735 1.73e1 SMART
Blast:TPR 737 768 2e-7 BLAST
TPR 949 982 1.26e1 SMART
TPR 983 1016 5.03e-1 SMART
TPR 1020 1053 2.52e-1 SMART
TPR 1087 1120 2.07e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000061444
SMART Domains Protein: ENSMUSP00000055619
Gene: ENSMUSG00000049960

DomainStartEndE-ValueType
Pfam:Ribosomal_S16 24 84 9.9e-25 PFAM
low complexity region 107 135 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125558
Predicted Effect probably damaging
Transcript: ENSMUST00000144797
AA Change: A1092T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000116668
Gene: ENSMUSG00000039543
AA Change: A1092T

DomainStartEndE-ValueType
Blast:C2 11 122 5e-44 BLAST
low complexity region 494 503 N/A INTRINSIC
low complexity region 630 639 N/A INTRINSIC
Blast:TPR 640 672 2e-11 BLAST
Blast:TPR 673 706 3e-15 BLAST
TPR 707 740 1.73e1 SMART
Blast:TPR 742 773 2e-7 BLAST
TPR 954 987 1.26e1 SMART
TPR 988 1021 5.03e-1 SMART
TPR 1025 1058 2.52e-1 SMART
TPR 1092 1125 2.07e1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224286
Meta Mutation Damage Score 0.1209 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 97.0%
  • 10x: 95.7%
  • 20x: 93.4%
Validation Efficiency 98% (101/103)
Allele List at MGI

All alleles(17) : Targeted(2) Gene trapped(15)

Other mutations in this stock
Total: 98 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700056E22Rik A G 1: 183,765,828 (GRCm39) V77A probably benign Het
Actl7a G A 4: 56,744,135 (GRCm39) V221M probably damaging Het
Alkbh2 C T 5: 114,262,287 (GRCm39) E148K probably damaging Het
Arhgef10 C T 8: 15,006,987 (GRCm39) probably benign Het
Asgr2 T C 11: 69,989,123 (GRCm39) L86P possibly damaging Het
Atp12a A G 14: 56,624,308 (GRCm39) R919G probably benign Het
Atrn A G 2: 130,836,971 (GRCm39) Y1145C probably damaging Het
B3gnt5 T G 16: 19,588,294 (GRCm39) L171R probably benign Het
Bbof1 T A 12: 84,457,859 (GRCm39) N41K possibly damaging Het
Bdp1 A T 13: 100,235,097 (GRCm39) W166R probably benign Het
Bean1 A T 8: 104,937,742 (GRCm39) H107L possibly damaging Het
Brd4 T C 17: 32,417,060 (GRCm39) probably benign Het
Cadps T C 14: 12,465,859 (GRCm38) K1017R possibly damaging Het
Cep78 G A 19: 15,951,715 (GRCm39) probably benign Het
Cideb A G 14: 55,992,700 (GRCm39) V72A probably benign Het
Cpz T C 5: 35,675,012 (GRCm39) E79G probably damaging Het
Crybg1 A G 10: 43,873,544 (GRCm39) L1188P probably damaging Het
Cuzd1 G A 7: 130,911,425 (GRCm39) P518L probably benign Het
Cyp2j5 A T 4: 96,551,491 (GRCm39) N77K probably damaging Het
Cyp4f39 T G 17: 32,702,265 (GRCm39) F254C probably benign Het
Dkk1 C A 19: 30,524,731 (GRCm39) V225L probably damaging Het
Dlg5 T C 14: 24,226,639 (GRCm39) Y421C probably damaging Het
Dll3 T C 7: 27,998,348 (GRCm39) T206A probably benign Het
Dnhd1 T C 7: 105,362,614 (GRCm39) C3766R probably benign Het
Dock9 G T 14: 121,820,792 (GRCm39) S1534Y probably damaging Het
Dst T C 1: 34,200,110 (GRCm39) V96A probably damaging Het
F2r A G 13: 95,740,698 (GRCm39) F279S probably damaging Het
Farp1 C A 14: 121,492,908 (GRCm39) N503K probably benign Het
Fbxw2 G A 2: 34,712,776 (GRCm39) T95I probably damaging Het
Fis1 A G 5: 136,994,461 (GRCm39) T50A probably benign Het
Frzb T G 2: 80,276,772 (GRCm39) E138A probably damaging Het
Fsip2 A T 2: 82,817,164 (GRCm39) D4299V probably benign Het
Fyco1 C T 9: 123,659,478 (GRCm39) D233N probably damaging Het
Gmpr A G 13: 45,667,997 (GRCm39) probably benign Het
Hc C T 2: 34,919,407 (GRCm39) probably benign Het
Hnrnpa1 T C 15: 103,150,699 (GRCm39) M186T possibly damaging Het
Kl A G 5: 150,906,132 (GRCm39) K501E probably benign Het
Klhl42 A G 6: 147,009,427 (GRCm39) N422S probably damaging Het
Kmt2d C G 15: 98,753,471 (GRCm39) K127N probably damaging Het
Kmt2d T A 15: 98,753,472 (GRCm39) K127M probably damaging Het
Krt39 T A 11: 99,405,461 (GRCm39) T480S probably benign Het
Lims2 T A 18: 32,088,395 (GRCm39) C198* probably null Het
Mctp1 A G 13: 76,532,729 (GRCm39) N26D possibly damaging Het
Mdm4 A G 1: 132,931,538 (GRCm39) S168P probably benign Het
Myo3a A G 2: 22,455,008 (GRCm39) Y71C probably benign Het
Nlrp9c T A 7: 26,084,319 (GRCm39) D420V probably damaging Het
Ntf3 A T 6: 126,079,485 (GRCm39) I7N possibly damaging Het
Or10ag52 G A 2: 87,043,721 (GRCm39) G162S probably benign Het
Or13c25 G T 4: 52,910,849 (GRCm39) T315K probably benign Het
Or4c119 A G 2: 88,986,925 (GRCm39) V198A probably benign Het
Or8b38 T C 9: 37,972,981 (GRCm39) Y122H probably damaging Het
Papln C A 12: 83,836,028 (GRCm39) Y1222* probably null Het
Pgm3 T G 9: 86,440,531 (GRCm39) I387L possibly damaging Het
Pira12 G C 7: 3,900,871 (GRCm39) P20R probably damaging Het
Pkd1 C A 17: 24,814,131 (GRCm39) P4167Q probably damaging Het
Plcb4 T A 2: 135,854,947 (GRCm39) V1174E probably damaging Het
Polr1b A G 2: 128,943,031 (GRCm39) N9D probably benign Het
Prkaa2 G A 4: 104,893,950 (GRCm39) Q456* probably null Het
Ptch2 G T 4: 116,965,858 (GRCm39) V425L probably benign Het
Ptprh A T 7: 4,552,394 (GRCm39) S957T probably benign Het
Riok1 A G 13: 38,241,177 (GRCm39) D444G probably benign Het
Rrbp1 A T 2: 143,830,211 (GRCm39) V652E probably benign Het
Rrp36 C T 17: 46,983,671 (GRCm39) R47Q possibly damaging Het
Sec24c T C 14: 20,736,955 (GRCm39) S304P probably damaging Het
Serpinb6b A T 13: 33,158,991 (GRCm39) D64V possibly damaging Het
Serpinb9b A T 13: 33,223,531 (GRCm39) probably null Het
Six6 T A 12: 72,988,538 (GRCm39) I237N probably damaging Het
Slc25a36 A T 9: 96,975,135 (GRCm39) M127K probably benign Het
Slc2a10 A G 2: 165,356,550 (GRCm39) D70G probably damaging Het
Slc2a3 T A 6: 122,713,700 (GRCm39) I171F probably damaging Het
Smc4 A G 3: 68,940,401 (GRCm39) T1087A probably damaging Het
Spg21 A G 9: 65,391,779 (GRCm39) Y242C probably damaging Het
St14 A G 9: 31,001,166 (GRCm39) V855A possibly damaging Het
Stx2 G A 5: 129,065,903 (GRCm39) T251M probably damaging Het
Svs3b A T 2: 164,097,848 (GRCm39) S158T probably benign Het
Synpo C T 18: 60,736,661 (GRCm39) M428I probably benign Het
Tasor2 A T 13: 3,626,612 (GRCm39) Y1113N possibly damaging Het
Tbc1d31 G A 15: 57,775,760 (GRCm39) R17H probably damaging Het
Tbl3 G A 17: 24,923,477 (GRCm39) T284I probably benign Het
Tcof1 T C 18: 60,971,927 (GRCm39) T127A possibly damaging Het
Tgoln1 T C 6: 72,593,084 (GRCm39) E132G probably benign Het
Timeless T C 10: 128,077,583 (GRCm39) I221T probably damaging Het
Tmem176b C T 6: 48,815,138 (GRCm39) A52T possibly damaging Het
Tmem192 C T 8: 65,418,235 (GRCm39) L207F probably damaging Het
Trank1 T C 9: 111,176,996 (GRCm39) probably null Het
Ttc7b C T 12: 100,381,389 (GRCm39) probably null Het
Tubb5 T C 17: 36,146,190 (GRCm39) Y340C probably benign Het
Ubr1 G A 2: 120,761,449 (GRCm39) T576I probably benign Het
Vcan T C 13: 89,841,134 (GRCm39) E1470G probably damaging Het
Vmn1r200 T A 13: 22,579,663 (GRCm39) N146K probably damaging Het
Vmn2r120 T A 17: 57,831,839 (GRCm39) I317F probably benign Het
Vmn2r61 T C 7: 41,949,710 (GRCm39) I710T possibly damaging Het
Wipf1 T A 2: 73,270,499 (GRCm39) K61N probably benign Het
Zfp112 T C 7: 23,824,662 (GRCm39) V210A probably benign Het
Zfp612 G A 8: 110,815,095 (GRCm39) V101M probably benign Het
Zfp637 A G 6: 117,822,681 (GRCm39) R270G probably damaging Het
Zfp652 A G 11: 95,654,851 (GRCm39) E418G possibly damaging Het
Zfp97 A G 17: 17,365,265 (GRCm39) I255V probably benign Het
Other mutations in Cfap70
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00468:Cfap70 APN 14 20,462,530 (GRCm39) missense possibly damaging 0.77
IGL00567:Cfap70 APN 14 20,444,748 (GRCm39) missense probably benign 0.30
IGL00773:Cfap70 APN 14 20,497,602 (GRCm39) missense probably damaging 1.00
IGL01061:Cfap70 APN 14 20,497,693 (GRCm39) splice site probably benign
IGL01520:Cfap70 APN 14 20,470,755 (GRCm39) missense probably benign 0.23
IGL01665:Cfap70 APN 14 20,453,186 (GRCm39) missense probably damaging 1.00
IGL01918:Cfap70 APN 14 20,475,467 (GRCm39) missense possibly damaging 0.81
IGL02211:Cfap70 APN 14 20,445,040 (GRCm39) missense probably damaging 1.00
IGL02613:Cfap70 APN 14 20,459,132 (GRCm39) splice site probably null
IGL03142:Cfap70 APN 14 20,447,283 (GRCm39) missense probably damaging 0.99
IGL03354:Cfap70 APN 14 20,482,050 (GRCm39) missense probably damaging 1.00
IGL03047:Cfap70 UTSW 14 20,498,646 (GRCm39) missense possibly damaging 0.92
IGL03097:Cfap70 UTSW 14 20,498,676 (GRCm39) missense probably benign 0.00
P0008:Cfap70 UTSW 14 20,466,600 (GRCm39) missense probably damaging 0.99
P0035:Cfap70 UTSW 14 20,474,539 (GRCm39) splice site probably benign
R0200:Cfap70 UTSW 14 20,498,631 (GRCm39) missense probably damaging 0.96
R0207:Cfap70 UTSW 14 20,462,415 (GRCm39) missense probably damaging 1.00
R0238:Cfap70 UTSW 14 20,498,673 (GRCm39) missense probably benign 0.01
R0238:Cfap70 UTSW 14 20,498,673 (GRCm39) missense probably benign 0.01
R0239:Cfap70 UTSW 14 20,498,673 (GRCm39) missense probably benign 0.01
R0239:Cfap70 UTSW 14 20,498,673 (GRCm39) missense probably benign 0.01
R0463:Cfap70 UTSW 14 20,498,631 (GRCm39) missense probably damaging 0.96
R0608:Cfap70 UTSW 14 20,498,631 (GRCm39) missense probably damaging 0.96
R0703:Cfap70 UTSW 14 20,489,783 (GRCm39) missense probably damaging 1.00
R0919:Cfap70 UTSW 14 20,454,232 (GRCm39) missense probably benign 0.00
R0928:Cfap70 UTSW 14 20,493,987 (GRCm39) missense probably damaging 1.00
R1595:Cfap70 UTSW 14 20,497,604 (GRCm39) missense probably benign 0.10
R1667:Cfap70 UTSW 14 20,454,225 (GRCm39) missense probably benign 0.41
R1799:Cfap70 UTSW 14 20,445,067 (GRCm39) missense probably damaging 1.00
R1869:Cfap70 UTSW 14 20,458,678 (GRCm39) nonsense probably null
R1968:Cfap70 UTSW 14 20,470,879 (GRCm39) missense possibly damaging 0.93
R2173:Cfap70 UTSW 14 20,458,630 (GRCm39) missense probably benign 0.00
R3081:Cfap70 UTSW 14 20,470,830 (GRCm39) missense probably damaging 1.00
R3813:Cfap70 UTSW 14 20,471,190 (GRCm39) missense possibly damaging 0.95
R3979:Cfap70 UTSW 14 20,489,787 (GRCm39) missense probably benign 0.11
R4093:Cfap70 UTSW 14 20,459,181 (GRCm39) missense probably damaging 1.00
R4271:Cfap70 UTSW 14 20,470,793 (GRCm39) missense probably benign 0.00
R4604:Cfap70 UTSW 14 20,493,729 (GRCm39) missense probably benign 0.01
R4839:Cfap70 UTSW 14 20,475,597 (GRCm39) missense probably damaging 0.96
R6387:Cfap70 UTSW 14 20,498,643 (GRCm39) missense probably damaging 1.00
R6464:Cfap70 UTSW 14 20,451,107 (GRCm39) splice site probably null
R6915:Cfap70 UTSW 14 20,459,153 (GRCm39) missense probably benign 0.17
R7317:Cfap70 UTSW 14 20,450,502 (GRCm39) missense possibly damaging 0.78
R7400:Cfap70 UTSW 14 20,458,335 (GRCm39) missense probably benign
R7962:Cfap70 UTSW 14 20,486,854 (GRCm39) missense probably benign 0.00
R7974:Cfap70 UTSW 14 20,470,818 (GRCm39) missense probably damaging 0.99
R7996:Cfap70 UTSW 14 20,459,194 (GRCm39) missense probably benign 0.02
R8897:Cfap70 UTSW 14 20,493,669 (GRCm39) critical splice donor site probably null
R9116:Cfap70 UTSW 14 20,497,590 (GRCm39) missense probably benign 0.01
R9174:Cfap70 UTSW 14 20,493,706 (GRCm39) missense probably damaging 1.00
R9649:Cfap70 UTSW 14 20,450,546 (GRCm39) missense probably damaging 0.99
R9667:Cfap70 UTSW 14 20,490,690 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- ATCAGTAGAGACAAATCTGGAACTC -3'
(R):5'- AGCACTGGTATAGGTCGTGG -3'

Sequencing Primer
(F):5'- GTTGCTGTGTGCTAACAG -3'
(R):5'- GGAGCTCCTTTCATAGTAAACTAGGC -3'
Posted On 2014-07-14