Incidental Mutation 'IGL01340:Cfap221'
ID74796
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cfap221
Ensembl Gene ENSMUSG00000036962
Gene Namecilia and flagella associated protein 221
SynonymsGm101, Pcdp1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01340
Quality Score
Status
Chromosome1
Chromosomal Location119923341-119997234 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 119953620 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 371 (I371F)
Ref Sequence ENSEMBL: ENSMUSP00000134576 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037840] [ENSMUST00000174370]
Predicted Effect possibly damaging
Transcript: ENSMUST00000037840
AA Change: I371F

PolyPhen 2 Score 0.756 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000037703
Gene: ENSMUSG00000036962
AA Change: I371F

DomainStartEndE-ValueType
low complexity region 292 301 N/A INTRINSIC
low complexity region 456 468 N/A INTRINSIC
low complexity region 614 626 N/A INTRINSIC
low complexity region 754 771 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000174370
AA Change: I371F

PolyPhen 2 Score 0.756 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000134576
Gene: ENSMUSG00000036962
AA Change: I371F

DomainStartEndE-ValueType
low complexity region 292 301 N/A INTRINSIC
low complexity region 456 468 N/A INTRINSIC
low complexity region 614 626 N/A INTRINSIC
low complexity region 754 771 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700022I11Rik A C 4: 42,971,984 E439A possibly damaging Het
Abca9 T A 11: 110,130,627 I1086L probably benign Het
Adam17 A T 12: 21,330,057 C630* probably null Het
Adgrg5 T C 8: 94,937,629 L289P probably damaging Het
Aplp1 G A 7: 30,444,418 T64I probably damaging Het
Bdh1 T A 16: 31,456,843 W261R probably damaging Het
Cadm2 A T 16: 66,784,785 I202N possibly damaging Het
Cd209c C T 8: 3,945,892 R6H probably benign Het
Cfap44 A G 16: 44,404,130 Y67C probably damaging Het
Cilp T C 9: 65,275,974 S387P probably damaging Het
Cnot1 T C 8: 95,760,537 D598G probably damaging Het
Col5a1 T C 2: 27,960,451 L520P unknown Het
Cpvl A T 6: 53,896,451 Y433* probably null Het
Cxcl1 G T 5: 90,891,575 C59F probably damaging Het
Cyth3 T A 5: 143,684,435 L33* probably null Het
Dnah2 T C 11: 69,493,184 K1069E probably damaging Het
Drosha T A 15: 12,834,023 probably benign Het
Fam83h T A 15: 76,004,036 D484V probably damaging Het
Igsf3 C A 3: 101,439,679 Y663* probably null Het
Kmt5c C T 7: 4,742,141 R44* probably null Het
Kxd1 T C 8: 70,515,443 probably null Het
Lars A G 18: 42,202,577 V1158A probably benign Het
Lmf2 A G 15: 89,352,872 F413S probably damaging Het
Mc4r C T 18: 66,859,158 A295T probably benign Het
Mrc1 T C 2: 14,310,084 probably null Het
Mtmr7 T C 8: 40,597,422 Y110C probably damaging Het
Myd88 A C 9: 119,337,352 probably benign Het
Ndc1 T C 4: 107,374,147 V95A probably damaging Het
Ntrk1 T A 3: 87,788,714 E163V possibly damaging Het
Olfr1208 T C 2: 88,896,977 T207A probably damaging Het
Pappa A T 4: 65,323,872 D1491V possibly damaging Het
Phc3 T A 3: 30,929,884 I673F possibly damaging Het
Pkhd1 A T 1: 20,522,977 N1637K probably benign Het
Relb T C 7: 19,616,373 I218V probably benign Het
Rgma T C 7: 73,417,330 F111S probably damaging Het
Slco1a6 A T 6: 142,109,383 N278K possibly damaging Het
Slfn9 A T 11: 82,981,751 F720I probably benign Het
Snd1 T A 6: 28,883,369 V741E probably benign Het
Snx6 C T 12: 54,754,309 R185Q probably damaging Het
Telo2 G A 17: 25,100,129 probably benign Het
Wdr91 A G 6: 34,904,579 S278P probably benign Het
Xab2 A T 8: 3,614,381 D277E probably damaging Het
Zbbx T C 3: 75,105,650 E158G possibly damaging Het
Other mutations in Cfap221
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00093:Cfap221 APN 1 119932845 missense possibly damaging 0.89
IGL00954:Cfap221 APN 1 119934209 missense probably damaging 1.00
IGL01413:Cfap221 APN 1 119985071 missense possibly damaging 0.84
IGL01418:Cfap221 APN 1 119985071 missense possibly damaging 0.84
IGL01730:Cfap221 APN 1 119934111 missense probably benign 0.01
IGL01931:Cfap221 APN 1 119932895 missense probably damaging 1.00
IGL02936:Cfap221 APN 1 119984752 missense probably damaging 1.00
IGL03309:Cfap221 APN 1 119934601 missense probably damaging 1.00
Ningxia UTSW 1 119953659 missense probably benign 0.08
R0365:Cfap221 UTSW 1 119985023 missense probably benign 0.00
R0396:Cfap221 UTSW 1 119954200 missense probably benign 0.00
R1505:Cfap221 UTSW 1 119953628 missense probably benign 0.04
R1740:Cfap221 UTSW 1 119945828 missense probably benign
R1873:Cfap221 UTSW 1 119953659 missense probably benign 0.08
R1875:Cfap221 UTSW 1 119953659 missense probably benign 0.08
R2205:Cfap221 UTSW 1 119936104 missense possibly damaging 0.76
R3885:Cfap221 UTSW 1 119954146 critical splice donor site probably null
R4290:Cfap221 UTSW 1 119930920 missense probably benign 0.00
R4856:Cfap221 UTSW 1 119934204 missense probably damaging 0.99
R4856:Cfap221 UTSW 1 119984758 missense probably damaging 0.99
R4886:Cfap221 UTSW 1 119934204 missense probably damaging 0.99
R4886:Cfap221 UTSW 1 119984758 missense probably damaging 0.99
R4890:Cfap221 UTSW 1 119955746 missense probably benign 0.01
R5623:Cfap221 UTSW 1 119954168 missense probably benign 0.00
R5644:Cfap221 UTSW 1 119932802 missense probably damaging 1.00
R5758:Cfap221 UTSW 1 119934558 missense probably benign 0.00
R5959:Cfap221 UTSW 1 119932781 missense probably damaging 1.00
R6145:Cfap221 UTSW 1 119984816 missense possibly damaging 0.92
R6186:Cfap221 UTSW 1 119934610 missense probably damaging 1.00
R6431:Cfap221 UTSW 1 119932853 missense probably damaging 1.00
R6700:Cfap221 UTSW 1 119955691 missense possibly damaging 0.71
R7109:Cfap221 UTSW 1 119925571 missense possibly damaging 0.92
R7166:Cfap221 UTSW 1 119948113 missense probably benign 0.06
R7273:Cfap221 UTSW 1 119954218 missense possibly damaging 0.83
R7343:Cfap221 UTSW 1 119995098 missense possibly damaging 0.92
R7486:Cfap221 UTSW 1 119923592 missense possibly damaging 0.71
R7698:Cfap221 UTSW 1 119961929 nonsense probably null
R8293:Cfap221 UTSW 1 119981774 missense possibly damaging 0.84
R8389:Cfap221 UTSW 1 119923571 missense probably damaging 0.99
R8510:Cfap221 UTSW 1 119989447 nonsense probably null
X0017:Cfap221 UTSW 1 119961989 splice site probably null
Z1176:Cfap221 UTSW 1 119995141 missense probably benign 0.00
Z1177:Cfap221 UTSW 1 119984743 missense probably damaging 1.00
Posted On2013-10-07