Incidental Mutation 'R3979:Cfap70'
ID 311205
Institutional Source Beutler Lab
Gene Symbol Cfap70
Ensembl Gene ENSMUSG00000039543
Gene Name cilia and flagella associated protein 70
Synonyms 5330402L21Rik, Ttc18
MMRRC Submission 040942-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # R3979 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 20444261-20502294 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 20489787 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 246 (E246D)
Ref Sequence ENSEMBL: ENSMUSP00000022348 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022348] [ENSMUST00000022349] [ENSMUST00000056073]
AlphaFold D3YVL2
Predicted Effect probably benign
Transcript: ENSMUST00000022348
AA Change: E246D

PolyPhen 2 Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000022348
Gene: ENSMUSG00000039543
AA Change: E246D

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: E246D

PolyPhen 2 Score 0.089 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000022349
Gene: ENSMUSG00000039543
AA Change: E246D

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: E246D

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000056869
Gene: ENSMUSG00000039543
AA Change: E246D

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 probably benign
Transcript: ENSMUST00000144797
AA Change: E246D

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000116668
Gene: ENSMUSG00000039543
AA Change: E246D

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 probably benign
Transcript: ENSMUST00000151077
AA Change: E246D

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000119023
Gene: ENSMUSG00000039543
AA Change: E246D

DomainStartEndE-ValueType
Blast:C2 11 122 8e-48 BLAST
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency
Allele List at MGI

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

Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 A G 2: 69,154,320 (GRCm39) V82A probably benign Het
Adam28 A G 14: 68,848,443 (GRCm39) V671A probably benign Het
Ak3 T A 19: 29,025,118 (GRCm39) S38C probably damaging Het
Arfgef1 A G 1: 10,279,859 (GRCm39) V236A probably benign Het
Arhgap10 T C 8: 78,147,354 (GRCm39) N170S probably benign Het
B020004C17Rik G T 14: 57,254,645 (GRCm39) M156I possibly damaging Het
Bicral T A 17: 47,141,917 (GRCm39) M1L unknown Het
Bop1 A G 15: 76,338,076 (GRCm39) L598P probably damaging Het
Cachd1 A T 4: 100,828,085 (GRCm39) D611V probably damaging Het
Chl1 T A 6: 103,692,245 (GRCm39) Y294* probably null Het
Chrna2 T A 14: 66,386,402 (GRCm39) Y183N probably damaging Het
Dab2 A G 15: 6,464,644 (GRCm39) probably null Het
Dnajb6 T C 5: 29,956,006 (GRCm39) F46L possibly damaging Het
Exoc7 T C 11: 116,187,588 (GRCm39) E275G probably benign Het
Frem2 A G 3: 53,559,491 (GRCm39) I1672T probably benign Het
Gprc6a C A 10: 51,497,197 (GRCm39) V449L probably benign Het
H2-M10.4 A G 17: 36,772,877 (GRCm39) V35A probably benign Het
Hr A G 14: 70,801,024 (GRCm39) T699A probably benign Het
Iffo1 A G 6: 125,137,552 (GRCm39) probably benign Het
Iqgap1 G A 7: 80,409,682 (GRCm39) H218Y probably damaging Het
Itpr3 A C 17: 27,304,105 (GRCm39) K109Q probably benign Het
Itpr3 A G 17: 27,310,546 (GRCm39) D443G probably damaging Het
Katna1 T C 10: 7,628,518 (GRCm39) M249T probably damaging Het
Klk1b4 G A 7: 43,861,017 (GRCm39) G220D probably damaging Het
Krt24 A G 11: 99,173,596 (GRCm39) C242R probably benign Het
Madd G A 2: 91,007,173 (GRCm39) T313I possibly damaging Het
Man1c1 G C 4: 134,430,749 (GRCm39) P11R probably damaging Het
Mical2 A G 7: 112,006,885 (GRCm39) probably null Het
Neil3 T C 8: 54,076,699 (GRCm39) T79A probably damaging Het
Nras A G 3: 102,967,541 (GRCm39) I46V probably benign Het
Or2w1b T A 13: 21,300,031 (GRCm39) H56Q probably benign Het
Or4a66 T C 2: 88,530,792 (GRCm39) S294G probably benign Het
Ppfia2 A G 10: 106,666,490 (GRCm39) T399A possibly damaging Het
Rarres1 A G 3: 67,403,143 (GRCm39) V86A probably benign Het
Rdh19 A T 10: 127,685,944 (GRCm39) R19W possibly damaging Het
Rock2 A G 12: 17,022,737 (GRCm39) K1059E probably damaging Het
Sft2d1rt T A 11: 45,942,853 (GRCm39) K90M probably damaging Het
Sparcl1 T C 5: 104,240,647 (GRCm39) H259R probably benign Het
Spata31d1c A G 13: 65,182,974 (GRCm39) D172G possibly damaging Het
Stab2 T C 10: 86,699,320 (GRCm39) D515G possibly damaging Het
Sycp2l A G 13: 41,295,440 (GRCm39) I334M probably damaging Het
Tas2r103 A G 6: 133,013,280 (GRCm39) L262P probably benign Het
Tasor T C 14: 27,199,087 (GRCm39) L1335S possibly damaging Het
Tcaf2 A G 6: 42,619,481 (GRCm39) V182A probably damaging Het
Tcof1 C T 18: 60,964,605 (GRCm39) E674K possibly damaging Het
Trp63 A G 16: 25,639,490 (GRCm39) probably benign Het
Ttn A T 2: 76,575,738 (GRCm39) W25052R probably damaging Het
Ubr1 T A 2: 120,693,168 (GRCm39) N1746I probably benign Het
Vax2 T C 6: 83,714,529 (GRCm39) V148A probably damaging Het
Vmn2r112 T A 17: 22,822,096 (GRCm39) V258E probably damaging Het
Vmn2r96 T A 17: 18,817,941 (GRCm39) I698N probably damaging Het
Wdr90 A G 17: 26,078,252 (GRCm39) V372A probably benign Het
Zfp335 C T 2: 164,752,558 (GRCm39) G62D probably benign Het
Zfp563 G A 17: 33,324,701 (GRCm39) R432H probably benign Het
Zhx1 T C 15: 57,916,636 (GRCm39) T537A 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
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
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'- CCAGTTTTGACAAACGGACAGG -3'
(R):5'- CCGCTGGGAAAAGCTCTAAG -3'

Sequencing Primer
(F):5'- TTTTGACAAACGGACAGGGATGTG -3'
(R):5'- GCAGACTTTTTATACATTCCAAAGCC -3'
Posted On 2015-04-29