Incidental Mutation 'R3813:Cfap70'
ID 274164
Institutional Source Beutler Lab
Gene Symbol Cfap70
Ensembl Gene ENSMUSG00000039543
Gene Name cilia and flagella associated protein 70
Synonyms 5330402L21Rik, Ttc18
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # R3813 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 20444261-20502294 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 20471190 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 493 (I493L)
Ref Sequence ENSEMBL: ENSMUSP00000022348 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022348] [ENSMUST00000022349] [ENSMUST00000056073]
AlphaFold D3YVL2
Predicted Effect possibly damaging
Transcript: ENSMUST00000022348
AA Change: I493L

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000022348
Gene: ENSMUSG00000039543
AA Change: I493L

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 possibly damaging
Transcript: ENSMUST00000022349
AA Change: I437L

PolyPhen 2 Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000022349
Gene: ENSMUSG00000039543
AA Change: I437L

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 possibly damaging
Transcript: ENSMUST00000056073
AA Change: I493L

PolyPhen 2 Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000056869
Gene: ENSMUSG00000039543
AA Change: I493L

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 noncoding transcript
Transcript: ENSMUST00000141432
Predicted Effect possibly damaging
Transcript: ENSMUST00000144797
AA Change: I493L

PolyPhen 2 Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000116668
Gene: ENSMUSG00000039543
AA Change: I493L

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: ENSMUST00000148692
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 100% (50/50)
Allele List at MGI

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

Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts3 T C 5: 89,825,785 (GRCm39) D1018G possibly damaging Het
Adgrg1 T A 8: 95,738,193 (GRCm39) L562Q probably benign Het
Ankrd11 T C 8: 123,618,117 (GRCm39) T1891A probably benign Het
Arid2 A G 15: 96,267,831 (GRCm39) N648S probably benign Het
B4galt3 C A 1: 171,101,613 (GRCm39) H196N probably damaging Het
Cacna1s A T 1: 136,013,085 (GRCm39) I312F probably damaging Het
Cenpj A G 14: 56,790,679 (GRCm39) S457P probably benign Het
Cep120 G A 18: 53,873,284 (GRCm39) probably benign Het
Cfap97d1 A T 11: 101,882,314 (GRCm39) R106S probably benign Het
Csmd3 T C 15: 48,655,209 (GRCm39) D31G possibly damaging Het
Cstf3 T C 2: 104,439,466 (GRCm39) Y54H probably damaging Het
Cubn T A 2: 13,299,136 (GRCm39) Y3179F probably damaging Het
Cyp2s1 C T 7: 25,505,291 (GRCm39) probably null Het
Dll4 C A 2: 119,161,510 (GRCm39) T364N possibly damaging Het
Doc2g C T 19: 4,054,466 (GRCm39) probably null Het
Etl4 A G 2: 20,793,246 (GRCm39) E657G probably damaging Het
Fhdc1 A G 3: 84,371,577 (GRCm39) probably null Het
Fndc1 T C 17: 7,992,154 (GRCm39) H514R unknown Het
Gpat3 A G 5: 101,039,505 (GRCm39) probably benign Het
H2-Q4 A G 17: 35,602,071 (GRCm39) H311R possibly damaging Het
Hipk4 T C 7: 27,223,372 (GRCm39) L144S probably damaging Het
Hspa4 G A 11: 53,161,806 (GRCm39) P449S probably benign Het
Kif7 A G 7: 79,363,638 (GRCm39) V90A probably damaging Het
Klhl38 T C 15: 58,185,953 (GRCm39) I259V probably benign Het
Krt9 T A 11: 100,080,503 (GRCm39) E414D probably damaging Het
Lmo2 T C 2: 103,811,407 (GRCm39) Y147H probably damaging Het
Lrp2 G A 2: 69,294,923 (GRCm39) P3465L probably damaging Het
Lrriq1 T C 10: 103,051,972 (GRCm39) E260G probably damaging Het
Macf1 A G 4: 123,268,560 (GRCm39) S4689P probably damaging Het
Manba G A 3: 135,269,023 (GRCm39) E643K possibly damaging Het
Mc3r T A 2: 172,090,799 (GRCm39) L7Q probably benign Het
Mdga1 G A 17: 30,057,453 (GRCm39) P788S probably damaging Het
Or5d35 T C 2: 87,855,105 (GRCm39) F13S probably damaging Het
Or6c70 T A 10: 129,709,855 (GRCm39) Y257F probably damaging Het
Pcdh12 G A 18: 38,416,667 (GRCm39) R153* probably null Het
Plk3 T C 4: 116,990,647 (GRCm39) Y89C probably damaging Het
Prss41 G A 17: 24,056,596 (GRCm39) R160* probably null Het
Rae1 T A 2: 172,848,666 (GRCm39) probably benign Het
Rbm17 T A 2: 11,600,246 (GRCm39) probably benign Het
Recql4 A T 15: 76,588,694 (GRCm39) M1039K possibly damaging Het
Setx GTGGCT GT 2: 29,044,073 (GRCm39) 1814 probably null Het
Slit3 A G 11: 35,566,806 (GRCm39) Y1026C probably damaging Het
Tbl2 T A 5: 135,185,375 (GRCm39) probably null Het
Tex2 G A 11: 106,402,770 (GRCm39) T1034I unknown Het
Tmem241 A T 18: 12,200,167 (GRCm39) probably benign Het
Tmtc1 T C 6: 148,256,389 (GRCm39) probably benign Het
Trappc9 A T 15: 72,930,242 (GRCm39) I38N probably damaging Het
Trmt1 T A 8: 85,421,846 (GRCm39) probably benign Het
Vps37d G A 5: 135,103,304 (GRCm39) Q113* probably null Het
Zup1 T C 10: 33,816,218 (GRCm39) E242G 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
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'- GCTACACACTGCACAGGATTC -3'
(R):5'- CGTCTCATATACTGTCCTAGGGTTC -3'

Sequencing Primer
(F):5'- CTGCACAGGATTCATTGATCACAG -3'
(R):5'- ATACTGTCCTAGGGTTCAGATCTAG -3'
Posted On 2015-04-02