Incidental Mutation 'IGL01665:Cfap70'
ID 103284
Institutional Source Australian Phenomics Network (link to record)
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 # IGL01665
Quality Score
Status
Chromosome 14
Chromosomal Location 20444261-20502294 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 20453186 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 897 (T897M)
Ref Sequence ENSEMBL: ENSMUSP00000022349 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022348] [ENSMUST00000022349] [ENSMUST00000056073]
AlphaFold D3YVL2
Predicted Effect probably damaging
Transcript: ENSMUST00000022348
AA Change: T870M

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000022348
Gene: ENSMUSG00000039543
AA Change: T870M

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: T897M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000022349
Gene: ENSMUSG00000039543
AA Change: T897M

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: T914M

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000056869
Gene: ENSMUSG00000039543
AA Change: T914M

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: ENSMUST00000125558
Predicted Effect probably damaging
Transcript: ENSMUST00000144797
AA Change: T919M

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000116668
Gene: ENSMUSG00000039543
AA Change: T919M

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI

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

Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsbg1 T A 9: 54,530,004 (GRCm39) I231L probably benign Het
Adcyap1 T A 17: 93,507,506 (GRCm39) V22D probably damaging Het
Adgra3 T C 5: 50,164,272 (GRCm39) T236A possibly damaging Het
Adipor2 A T 6: 119,338,887 (GRCm39) L122H probably benign Het
Atp1a4 T C 1: 172,074,291 (GRCm39) I321V probably benign Het
Bhmt2 A T 13: 93,799,661 (GRCm39) Y258* probably null Het
C230029F24Rik T A 1: 49,377,253 (GRCm39) noncoding transcript Het
Ccpg1 T A 9: 72,913,159 (GRCm39) F232I probably damaging Het
Cd83 A T 13: 43,955,153 (GRCm39) T195S probably benign Het
Cdcp3 G T 7: 130,848,386 (GRCm39) G847* probably null Het
Cyp3a11 T A 5: 145,805,475 (GRCm39) M181L probably benign Het
Frem2 C T 3: 53,457,083 (GRCm39) V2090I probably benign Het
Gm45234 A G 6: 124,723,571 (GRCm39) probably benign Het
Gm7964 T A 7: 83,406,341 (GRCm39) noncoding transcript Het
Igsf9 T A 1: 172,319,738 (GRCm39) C39* probably null Het
Il1rap A T 16: 26,541,463 (GRCm39) D568V probably damaging Het
Ints7 C T 1: 191,345,331 (GRCm39) probably benign Het
Lsamp C T 16: 41,964,375 (GRCm39) R250* probably null Het
Oit3 T A 10: 59,274,731 (GRCm39) D23V probably damaging Het
Pcdh17 T A 14: 84,684,442 (GRCm39) L303Q probably damaging Het
Pcdhb1 T A 18: 37,400,450 (GRCm39) N800K probably benign Het
Plce1 A G 19: 38,513,331 (GRCm39) D210G probably benign Het
Plekhb2 T A 1: 34,908,411 (GRCm39) Y152N probably damaging Het
Rbp3 T C 14: 33,678,088 (GRCm39) S679P probably benign Het
Rps6kc1 T C 1: 190,643,854 (GRCm39) T2A possibly damaging Het
Tmem167 T A 13: 90,246,504 (GRCm39) S9R probably damaging Het
Xpnpep1 A T 19: 52,985,463 (GRCm39) S522T 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
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
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
Posted On 2014-01-21