Incidental Mutation 'IGL01413:Cfap221'
ID 278438
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cfap221
Ensembl Gene ENSMUSG00000036962
Gene Name cilia and flagella associated protein 221
Synonyms Pcdp1, Gm101
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01413
Quality Score
Status
Chromosome 1
Chromosomal Location 119851071-119924964 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 119912801 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 91 (H91L)
Ref Sequence ENSEMBL: ENSMUSP00000134576 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037840] [ENSMUST00000174370] [ENSMUST00000174458]
AlphaFold A9Q751
Predicted Effect possibly damaging
Transcript: ENSMUST00000037840
AA Change: H91L

PolyPhen 2 Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000037703
Gene: ENSMUSG00000036962
AA Change: H91L

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: H91L

PolyPhen 2 Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000134576
Gene: ENSMUSG00000036962
AA Change: H91L

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 probably benign
Transcript: ENSMUST00000174458
AA Change: H91L

PolyPhen 2 Score 0.282 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174509
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaa2 A T 18: 74,939,015 (GRCm39) probably benign Het
Adgrl1 T A 8: 84,656,486 (GRCm39) I268N probably damaging Het
Asic1 T A 15: 99,569,998 (GRCm39) N106K probably damaging Het
Ass1 A G 2: 31,366,934 (GRCm39) Y11C probably damaging Het
Cd44 T C 2: 102,644,632 (GRCm39) E448G probably damaging Het
Cdca2 A G 14: 67,915,343 (GRCm39) S639P probably damaging Het
Cmtr1 T C 17: 29,916,956 (GRCm39) S618P probably benign Het
Cnga4 A T 7: 105,054,169 (GRCm39) M46L probably benign Het
Col4a4 C T 1: 82,448,969 (GRCm39) G1207E unknown Het
Cracdl G A 1: 37,651,387 (GRCm39) A1160V possibly damaging Het
Cthrc1 T A 15: 38,943,894 (GRCm39) L58Q possibly damaging Het
Cyb561a3 T A 19: 10,562,610 (GRCm39) H83Q probably damaging Het
Dlgap1 C A 17: 70,823,069 (GRCm39) A18E probably benign Het
Dnah2 G A 11: 69,323,790 (GRCm39) L3707F probably damaging Het
Dnai7 A T 6: 145,120,812 (GRCm39) M669K probably damaging Het
Duox1 A G 2: 122,151,191 (GRCm39) N289D probably benign Het
Fbrsl1 T A 5: 110,526,114 (GRCm39) E443D probably damaging Het
Fgfr1 T A 8: 26,052,239 (GRCm39) C288* probably null Het
Gabbr1 A G 17: 37,373,598 (GRCm39) N498S possibly damaging Het
Gja10 T C 4: 32,602,070 (GRCm39) K105E probably damaging Het
Glra4 C T X: 135,663,493 (GRCm39) R352H probably benign Het
Gm19402 G T 10: 77,526,323 (GRCm39) probably benign Het
Hadha T A 5: 30,346,025 (GRCm39) M200L probably benign Het
Hoxc9 T A 15: 102,892,432 (GRCm39) M215K probably damaging Het
Huwe1 A T X: 150,665,676 (GRCm39) Q1231L possibly damaging Het
Ifi214 T A 1: 173,356,995 (GRCm39) N36I probably damaging Het
Il17ra A G 6: 120,452,542 (GRCm39) N242D probably benign Het
Il1rl1 A T 1: 40,485,329 (GRCm39) K260N possibly damaging Het
Lhx6 C A 2: 35,993,528 (GRCm39) A57S probably benign Het
Mdh2 T A 5: 135,814,879 (GRCm39) I116N probably damaging Het
Met T C 6: 17,558,895 (GRCm39) probably benign Het
Mgam A G 6: 40,638,211 (GRCm39) D387G probably damaging Het
Myo3a T C 2: 22,302,411 (GRCm39) S287P probably benign Het
Nol8 T G 13: 49,813,428 (GRCm39) N140K possibly damaging Het
Nrap C A 19: 56,377,823 (GRCm39) A56S probably damaging Het
Nuggc A G 14: 65,876,030 (GRCm39) T548A probably benign Het
Or10j2 T A 1: 173,098,275 (GRCm39) C178S probably damaging Het
Or2i1 A T 17: 37,508,554 (GRCm39) F102I possibly damaging Het
Pcdh11x A G X: 119,309,282 (GRCm39) T242A probably benign Het
Pcdhb8 A G 18: 37,489,029 (GRCm39) N236D probably damaging Het
Pdzph1 T C 17: 59,186,147 (GRCm39) I1215V possibly damaging Het
Plekha8 C T 6: 54,599,261 (GRCm39) T265I probably benign Het
Pou4f2 T A 8: 79,161,734 (GRCm39) I290F probably damaging Het
Pramel22 A T 4: 143,381,887 (GRCm39) F270I probably benign Het
Ptpn3 G A 4: 57,270,156 (GRCm39) T2I probably damaging Het
Rab28 A T 5: 41,855,790 (GRCm39) D68E probably damaging Het
Rbl1 T C 2: 156,994,812 (GRCm39) probably null Het
Samd4 A G 14: 47,254,249 (GRCm39) T137A probably benign Het
Serpinb1b T G 13: 33,277,842 (GRCm39) D358E probably damaging Het
Serpinb9c G A 13: 33,335,787 (GRCm39) L222F probably damaging Het
Slc24a3 A G 2: 145,482,169 (GRCm39) D609G probably damaging Het
Slc25a40 A C 5: 8,503,298 (GRCm39) *338Y probably null Het
Spef2 T A 15: 9,676,376 (GRCm39) I732L probably benign Het
Srrm2 T C 17: 24,034,999 (GRCm39) probably benign Het
Ssxb13 A G X: 8,615,692 (GRCm39) E75G probably benign Het
Stmnd1 A T 13: 46,453,157 (GRCm39) I278L probably benign Het
Strap C A 6: 137,722,502 (GRCm39) probably benign Het
Supt16 C T 14: 52,414,489 (GRCm39) E438K probably benign Het
Tcf4 A C 18: 69,788,090 (GRCm39) E160D probably damaging Het
Themis3 A G 17: 66,863,092 (GRCm39) Y289H probably benign Het
Tmem87a T C 2: 120,216,351 (GRCm39) T180A probably benign Het
Trappc10 A G 10: 78,033,678 (GRCm39) V963A possibly damaging Het
Trav19 G T 14: 54,083,072 (GRCm39) C49F probably damaging Het
Trim30c A G 7: 104,031,541 (GRCm39) S425P possibly damaging Het
Ubap1 A T 4: 41,387,333 (GRCm39) R414S probably benign Het
Usp9x A G X: 13,017,579 (GRCm39) S1696G probably benign Het
Vipas39 G A 12: 87,296,171 (GRCm39) T274I probably benign Het
Vmn1r185 A T 7: 26,311,046 (GRCm39) V153E probably damaging Het
Vmn2r124 A G 17: 18,282,827 (GRCm39) T174A probably benign Het
Wdr59 T A 8: 112,227,706 (GRCm39) S124C probably benign Het
Xirp2 A T 2: 67,340,270 (GRCm39) D837V probably damaging Het
Zfp185 A G X: 72,061,997 (GRCm39) D403G possibly damaging Het
Zfp516 A T 18: 83,005,795 (GRCm39) K900* probably null Het
Other mutations in Cfap221
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00093:Cfap221 APN 1 119,860,575 (GRCm39) missense possibly damaging 0.89
IGL00954:Cfap221 APN 1 119,861,939 (GRCm39) missense probably damaging 1.00
IGL01340:Cfap221 APN 1 119,881,350 (GRCm39) missense possibly damaging 0.76
IGL01418:Cfap221 APN 1 119,912,801 (GRCm39) missense possibly damaging 0.84
IGL01730:Cfap221 APN 1 119,861,841 (GRCm39) missense probably benign 0.01
IGL01931:Cfap221 APN 1 119,860,625 (GRCm39) missense probably damaging 1.00
IGL02936:Cfap221 APN 1 119,912,482 (GRCm39) missense probably damaging 1.00
IGL03309:Cfap221 APN 1 119,862,331 (GRCm39) missense probably damaging 1.00
Ningxia UTSW 1 119,881,389 (GRCm39) missense probably benign 0.08
R0365:Cfap221 UTSW 1 119,912,753 (GRCm39) missense probably benign 0.00
R0396:Cfap221 UTSW 1 119,881,930 (GRCm39) missense probably benign 0.00
R1505:Cfap221 UTSW 1 119,881,358 (GRCm39) missense probably benign 0.04
R1740:Cfap221 UTSW 1 119,873,558 (GRCm39) missense probably benign
R1873:Cfap221 UTSW 1 119,881,389 (GRCm39) missense probably benign 0.08
R1875:Cfap221 UTSW 1 119,881,389 (GRCm39) missense probably benign 0.08
R2205:Cfap221 UTSW 1 119,863,834 (GRCm39) missense possibly damaging 0.76
R3885:Cfap221 UTSW 1 119,881,876 (GRCm39) critical splice donor site probably null
R4290:Cfap221 UTSW 1 119,858,650 (GRCm39) missense probably benign 0.00
R4856:Cfap221 UTSW 1 119,912,488 (GRCm39) missense probably damaging 0.99
R4856:Cfap221 UTSW 1 119,861,934 (GRCm39) missense probably damaging 0.99
R4886:Cfap221 UTSW 1 119,912,488 (GRCm39) missense probably damaging 0.99
R4886:Cfap221 UTSW 1 119,861,934 (GRCm39) missense probably damaging 0.99
R4890:Cfap221 UTSW 1 119,883,476 (GRCm39) missense probably benign 0.01
R5623:Cfap221 UTSW 1 119,881,898 (GRCm39) missense probably benign 0.00
R5644:Cfap221 UTSW 1 119,860,532 (GRCm39) missense probably damaging 1.00
R5758:Cfap221 UTSW 1 119,862,288 (GRCm39) missense probably benign 0.00
R5959:Cfap221 UTSW 1 119,860,511 (GRCm39) missense probably damaging 1.00
R6145:Cfap221 UTSW 1 119,912,546 (GRCm39) missense possibly damaging 0.92
R6186:Cfap221 UTSW 1 119,862,340 (GRCm39) missense probably damaging 1.00
R6431:Cfap221 UTSW 1 119,860,583 (GRCm39) missense probably damaging 1.00
R6700:Cfap221 UTSW 1 119,883,421 (GRCm39) missense possibly damaging 0.71
R7109:Cfap221 UTSW 1 119,853,301 (GRCm39) missense possibly damaging 0.92
R7166:Cfap221 UTSW 1 119,875,843 (GRCm39) missense probably benign 0.06
R7273:Cfap221 UTSW 1 119,881,948 (GRCm39) missense possibly damaging 0.83
R7343:Cfap221 UTSW 1 119,922,828 (GRCm39) missense possibly damaging 0.92
R7486:Cfap221 UTSW 1 119,851,322 (GRCm39) missense possibly damaging 0.71
R7698:Cfap221 UTSW 1 119,889,659 (GRCm39) nonsense probably null
R8293:Cfap221 UTSW 1 119,909,504 (GRCm39) missense possibly damaging 0.84
R8389:Cfap221 UTSW 1 119,851,301 (GRCm39) missense probably damaging 0.99
R8510:Cfap221 UTSW 1 119,917,177 (GRCm39) nonsense probably null
R8849:Cfap221 UTSW 1 119,922,874 (GRCm39) missense probably damaging 1.00
R9093:Cfap221 UTSW 1 119,863,856 (GRCm39) missense probably damaging 1.00
R9290:Cfap221 UTSW 1 119,853,381 (GRCm39) missense probably benign 0.02
R9296:Cfap221 UTSW 1 119,883,467 (GRCm39) missense probably null 0.01
R9302:Cfap221 UTSW 1 119,853,365 (GRCm39) missense probably benign 0.17
R9402:Cfap221 UTSW 1 119,860,551 (GRCm39) missense probably benign 0.01
R9453:Cfap221 UTSW 1 119,853,361 (GRCm39) missense probably benign 0.01
R9572:Cfap221 UTSW 1 119,873,566 (GRCm39) missense probably damaging 0.96
R9708:Cfap221 UTSW 1 119,860,619 (GRCm39) missense probably damaging 1.00
R9725:Cfap221 UTSW 1 119,862,352 (GRCm39) missense probably benign 0.25
X0017:Cfap221 UTSW 1 119,889,719 (GRCm39) splice site probably null
Z1176:Cfap221 UTSW 1 119,922,871 (GRCm39) missense probably benign 0.00
Z1177:Cfap221 UTSW 1 119,912,473 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16