Incidental Mutation 'IGL01520:Cfap70'
ID90459
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cfap70
Ensembl Gene ENSMUSG00000039543
Gene Namecilia and flagella associated protein 70
Synonyms5330402L21Rik, Ttc18
Accession Numbers

NCBI RefSeq: NM_001163638.1, NM_001163639.1, NM_029698.1; MGI: 1923920

Is this an essential gene? Probably non essential (E-score: 0.073) question?
Stock #IGL01520
Quality Score
Status
Chromosome14
Chromosomal Location20394193-20452226 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 20420687 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Arginine at position 497 (C497R)
Ref Sequence ENSEMBL: ENSMUSP00000022349 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022348] [ENSMUST00000022349] [ENSMUST00000056073]
Predicted Effect probably benign
Transcript: ENSMUST00000022348
AA Change: C553R

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000022348
Gene: ENSMUSG00000039543
AA Change: C553R

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: C497R

PolyPhen 2 Score 0.231 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000022349
Gene: ENSMUSG00000039543
AA Change: C497R

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: C553R

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000056869
Gene: ENSMUSG00000039543
AA Change: C553R

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: C553R

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000116668
Gene: ENSMUSG00000039543
AA Change: C553R

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI

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

Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik C A 15: 8,221,911 T1889K probably damaging Het
4430402I18Rik A T 19: 28,896,132 probably null Het
4932438A13Rik T A 3: 36,973,260 Y2265* probably null Het
Acan T A 7: 79,084,570 H58Q probably damaging Het
Atp6v1c2 A T 12: 17,297,753 L149Q probably damaging Het
Cd40lg A G X: 57,219,788 N132D probably benign Het
Cemip G T 7: 83,948,622 T1060K probably benign Het
Ces1a G T 8: 93,045,098 P24T probably damaging Het
Ces5a A T 8: 93,519,578 S328T probably benign Het
Cndp2 T C 18: 84,668,607 K430R probably benign Het
Crlf3 T C 11: 80,060,146 D126G probably benign Het
Cxcr1 A T 1: 74,192,275 L196Q probably damaging Het
E330013P04Rik A G 19: 60,161,897 noncoding transcript Het
Erbb2 C T 11: 98,434,009 H810Y probably benign Het
Fam57a T C 11: 76,207,225 probably null Het
Fmn1 C A 2: 113,444,368 probably benign Het
Fpr3 A G 17: 17,971,063 T199A possibly damaging Het
Gcsh A G 8: 116,983,949 probably benign Het
Gm10073 T A 8: 106,573,269 I28F probably benign Het
Gucy1a2 C A 9: 3,759,561 Q456K probably damaging Het
Hgs C A 11: 120,478,348 P317T probably damaging Het
Inmt C A 6: 55,171,228 V139F probably damaging Het
Kcnma1 C A 14: 23,501,143 M460I possibly damaging Het
Map9 A T 3: 82,378,965 N359I probably damaging Het
Mavs T C 2: 131,245,343 S254P probably benign Het
Mcts1 T A X: 38,611,759 probably benign Het
Mecp2 C A X: 74,035,841 R344L possibly damaging Het
Olfr1006 T C 2: 85,674,357 T265A probably benign Het
Olfr1427 A G 19: 12,099,636 M1T probably null Het
Olfr1469 G T 19: 13,410,750 M60I probably damaging Het
Olfr392 T G 11: 73,814,786 T99P probably damaging Het
Olfr957 T C 9: 39,511,046 I225V possibly damaging Het
Olfr969 T G 9: 39,795,378 M1R probably null Het
Rasgrp1 T C 2: 117,288,663 I498V probably damaging Het
Rbbp6 T A 7: 122,985,675 S185T possibly damaging Het
Rd3 A T 1: 191,985,322 H251L possibly damaging Het
Rnf180 T A 13: 105,250,356 D148V probably damaging Het
Rnf43 C A 11: 87,664,716 A34E probably damaging Het
Rslcan18 A G 13: 67,102,108 V21A probably benign Het
Sept9 T C 11: 117,352,643 V128A probably damaging Het
Slc36a1 A G 11: 55,219,656 H103R probably benign Het
Ssh2 A G 11: 77,449,906 D628G probably damaging Het
Tmem119 A G 5: 113,795,485 F85S probably damaging Het
Tpp1 A T 7: 105,747,729 I398N probably benign Het
Ttc3 T C 16: 94,390,207 Y203H probably benign Het
Vars G T 17: 35,013,873 V898L probably benign Het
Vmn1r85 A C 7: 13,085,154 V21G probably damaging Het
Zfp521 T C 18: 13,938,988 H65R possibly damaging Het
Other mutations in Cfap70
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00468:Cfap70 APN 14 20412462 missense possibly damaging 0.77
IGL00567:Cfap70 APN 14 20394680 missense probably benign 0.30
IGL00773:Cfap70 APN 14 20447534 missense probably damaging 1.00
IGL01061:Cfap70 APN 14 20447625 splice site probably benign
IGL01665:Cfap70 APN 14 20403118 missense probably damaging 1.00
IGL01918:Cfap70 APN 14 20425399 missense possibly damaging 0.81
IGL02211:Cfap70 APN 14 20394972 missense probably damaging 1.00
IGL02613:Cfap70 APN 14 20409064 unclassified probably null
IGL03142:Cfap70 APN 14 20397215 missense probably damaging 0.99
IGL03354:Cfap70 APN 14 20431982 missense probably damaging 1.00
IGL03047:Cfap70 UTSW 14 20448578 missense possibly damaging 0.92
IGL03097:Cfap70 UTSW 14 20448608 missense probably benign 0.00
P0008:Cfap70 UTSW 14 20416532 missense probably damaging 0.99
P0035:Cfap70 UTSW 14 20424471 splice site probably benign
R0200:Cfap70 UTSW 14 20448563 missense probably damaging 0.96
R0207:Cfap70 UTSW 14 20412347 missense probably damaging 1.00
R0238:Cfap70 UTSW 14 20448605 missense probably benign 0.01
R0238:Cfap70 UTSW 14 20448605 missense probably benign 0.01
R0239:Cfap70 UTSW 14 20448605 missense probably benign 0.01
R0239:Cfap70 UTSW 14 20448605 missense probably benign 0.01
R0463:Cfap70 UTSW 14 20448563 missense probably damaging 0.96
R0608:Cfap70 UTSW 14 20448563 missense probably damaging 0.96
R0703:Cfap70 UTSW 14 20439715 missense probably damaging 1.00
R0919:Cfap70 UTSW 14 20404164 missense probably benign 0.00
R0928:Cfap70 UTSW 14 20443919 missense probably damaging 1.00
R1595:Cfap70 UTSW 14 20447536 missense probably benign 0.10
R1667:Cfap70 UTSW 14 20404157 missense probably benign 0.41
R1799:Cfap70 UTSW 14 20394999 missense probably damaging 1.00
R1869:Cfap70 UTSW 14 20408610 nonsense probably null
R1920:Cfap70 UTSW 14 20394952 missense probably damaging 1.00
R1968:Cfap70 UTSW 14 20420811 missense possibly damaging 0.93
R2173:Cfap70 UTSW 14 20408562 missense probably benign 0.00
R3081:Cfap70 UTSW 14 20420762 missense probably damaging 1.00
R3813:Cfap70 UTSW 14 20421122 missense possibly damaging 0.95
R3979:Cfap70 UTSW 14 20439719 missense probably benign 0.11
R4093:Cfap70 UTSW 14 20409113 missense probably damaging 1.00
R4271:Cfap70 UTSW 14 20420725 missense probably benign 0.00
R4604:Cfap70 UTSW 14 20443661 missense probably benign 0.01
R4839:Cfap70 UTSW 14 20425529 missense probably damaging 0.96
R6387:Cfap70 UTSW 14 20448575 missense probably damaging 1.00
R6464:Cfap70 UTSW 14 20401039 intron probably null
R6915:Cfap70 UTSW 14 20409085 missense probably benign 0.17
R7317:Cfap70 UTSW 14 20400434 missense possibly damaging 0.78
R7400:Cfap70 UTSW 14 20408267 missense probably benign
R7996:Cfap70 UTSW 14 20409126 missense probably benign 0.02
Posted On2013-12-09