Incidental Mutation 'R7996:Cfap70'
ID 616106
Institutional Source Beutler Lab
Gene Symbol Cfap70
Ensembl Gene ENSMUSG00000039543
Gene Name cilia and flagella associated protein 70
Synonyms 5330402L21Rik, Ttc18
MMRRC Submission 046036-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # R7996 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 20444261-20502294 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 20459194 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 723 (I723T)
Ref Sequence ENSEMBL: ENSMUSP00000056869 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022348] [ENSMUST00000022349] [ENSMUST00000056073]
AlphaFold D3YVL2
Predicted Effect probably benign
Transcript: ENSMUST00000022348
AA Change: I679T

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000022348
Gene: ENSMUSG00000039543
AA Change: I679T

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 benign
Transcript: ENSMUST00000022349
AA Change: I667T

PolyPhen 2 Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000022349
Gene: ENSMUSG00000039543
AA Change: I667T

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 benign
Transcript: ENSMUST00000056073
AA Change: I723T

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000056869
Gene: ENSMUSG00000039543
AA Change: I723T

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
Allele List at MGI

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

Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg5 A T 17: 84,977,490 (GRCm39) N394K probably damaging Het
Amotl1 T C 9: 14,505,001 (GRCm39) D69G possibly damaging Het
Arid5a G T 1: 36,356,526 (GRCm39) C121F unknown Het
Ccne2 C A 4: 11,201,347 (GRCm39) Q292K probably benign Het
Chrnd A G 1: 87,118,828 (GRCm39) T62A probably damaging Het
Cobll1 T A 2: 64,981,329 (GRCm39) H87L possibly damaging Het
Derl1 T G 15: 57,741,970 (GRCm39) M122L probably benign Het
Dnah5 T A 15: 28,409,323 (GRCm39) N3580K probably damaging Het
Efcab12 T C 6: 115,800,378 (GRCm39) Q215R probably benign Het
Eif3m T C 2: 104,831,694 (GRCm39) N289D probably benign Het
Elapor2 A C 5: 9,512,881 (GRCm39) K958N probably damaging Het
Emsy T A 7: 98,242,888 (GRCm39) I1084L probably benign Het
Garin3 T C 11: 46,295,889 (GRCm39) V87A Het
Garre1 G T 7: 33,963,024 (GRCm39) T216K possibly damaging Het
Gm3336 A T 8: 71,173,146 (GRCm39) T53S unknown Het
Gpr137b T C 13: 13,533,991 (GRCm39) Y355C Het
Hr G A 14: 70,801,043 (GRCm39) W676* probably null Het
Katnb1 A T 8: 95,824,643 (GRCm39) I546F possibly damaging Het
Memo1 A T 17: 74,565,491 (GRCm39) L24Q probably damaging Het
Mmel1 C G 4: 154,976,912 (GRCm39) Q529E probably benign Het
Naip5 A G 13: 100,358,164 (GRCm39) F1024S probably damaging Het
Or4c58 T C 2: 89,674,759 (GRCm39) D186G probably benign Het
Or7c70 A T 10: 78,683,155 (GRCm39) V198E probably damaging Het
Paics A G 5: 77,107,276 (GRCm39) K110R probably benign Het
Pate13 G A 9: 35,820,650 (GRCm39) R34H probably damaging Het
Pcdhgc4 C T 18: 37,950,459 (GRCm39) S625F probably damaging Het
Pnpla8 T A 12: 44,329,766 (GRCm39) L106* probably null Het
Rabggtb T C 3: 153,617,605 (GRCm39) H31R probably damaging Het
Rhot1 G A 11: 80,148,363 (GRCm39) C601Y probably damaging Het
Rps27 A G 3: 90,120,309 (GRCm39) V53A probably benign Het
Sdr39u1 C A 14: 56,135,344 (GRCm39) G200* probably null Het
Sesn1 T A 10: 41,770,929 (GRCm39) Y153* probably null Het
Slc25a40 A G 5: 8,493,653 (GRCm39) T168A probably damaging Het
Smoc2 C T 17: 14,595,730 (GRCm39) R286* probably null Het
Smtnl2 T A 11: 72,291,200 (GRCm39) K349N probably damaging Het
Snx16 G T 3: 10,500,509 (GRCm39) D153E probably benign Het
Spata31e5 C T 1: 28,817,487 (GRCm39) E182K probably damaging Het
Ssu72 A C 4: 155,816,450 (GRCm39) N144T probably benign Het
Stk40 C A 4: 126,030,667 (GRCm39) L296I probably damaging Het
Sult3a2 T C 10: 33,644,254 (GRCm39) M225V probably damaging Het
Syne2 T C 12: 76,051,441 (GRCm39) L4057P probably damaging Het
Tbx2 A G 11: 85,725,616 (GRCm39) H189R probably damaging Het
Tead1 T C 7: 112,441,311 (GRCm39) probably null Het
Tgs1 T C 4: 3,605,842 (GRCm39) S786P probably damaging Het
Tmco4 T C 4: 138,748,172 (GRCm39) Y251H probably damaging Het
Trim14 A T 4: 46,533,086 (GRCm39) C76S probably benign Het
Tubgcp6 T A 15: 88,993,231 (GRCm39) Q506L possibly damaging Het
Vmn2r50 A T 7: 9,781,795 (GRCm39) F317I probably damaging Het
Vwa5a T A 9: 38,639,124 (GRCm39) Y335* probably null Het
Zgrf1 C T 3: 127,389,573 (GRCm39) T1257I possibly damaging Het
Zpr1 A G 9: 46,184,863 (GRCm39) N87D possibly damaging 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
R1920:Cfap70 UTSW 14 20,445,020 (GRCm39) missense probably damaging 1.00
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
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'- GCTGACTTCCCACCATCATAG -3'
(R):5'- TCACGTTGACAGGTAGACAAG -3'

Sequencing Primer
(F):5'- TCTGAAGACAGCTACAGTGTAC -3'
(R):5'- CGTTGACAGGTAGACAAGAAGGAG -3'
Posted On 2020-01-23