Incidental Mutation 'R4856:Cfap221'
ID373924
Institutional Source Beutler Lab
Gene Symbol Cfap221
Ensembl Gene ENSMUSG00000036962
Gene Namecilia and flagella associated protein 221
SynonymsGm101, Pcdp1
MMRRC Submission 042467-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R4856 (G1)
Quality Score160
Status Not validated
Chromosome1
Chromosomal Location119923341-119997234 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 119984758 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 133 (Y133F)
Ref Sequence ENSEMBL: ENSMUSP00000134576 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037840] [ENSMUST00000174370] [ENSMUST00000174458]
Predicted Effect probably damaging
Transcript: ENSMUST00000037840
AA Change: Y133F

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000037703
Gene: ENSMUSG00000036962
AA Change: Y133F

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 damaging
Transcript: ENSMUST00000174370
AA Change: Y133F

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000134576
Gene: ENSMUSG00000036962
AA Change: Y133F

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: ENSMUST00000174458
AA Change: Y133F

PolyPhen 2 Score 0.617 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174509
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aebp2 G A 6: 140,644,073 probably null Het
Arsi G A 18: 60,916,651 G202E probably benign Het
Atp2b4 T A 1: 133,706,780 I1177L probably benign Het
Bub3 A T 7: 131,561,568 D76V probably damaging Het
Cacna2d4 G A 6: 119,278,256 R578Q possibly damaging Het
Caprin2 A C 6: 148,873,011 S268A probably benign Het
Card6 T C 15: 5,105,141 probably null Het
Cdk13 A G 13: 17,719,734 S1103P probably benign Het
Clcc1 A G 3: 108,676,838 T513A probably benign Het
Clec4g T A 8: 3,716,419 probably benign Het
Cntln A C 4: 84,971,229 E316D probably benign Het
Cpne2 T A 8: 94,563,964 D392E probably benign Het
Cry1 G T 10: 85,148,770 P147T probably damaging Het
Cyp4a29 T C 4: 115,252,881 V440A probably benign Het
Ddx46 A G 13: 55,638,199 D64G unknown Het
Dhx34 A G 7: 16,215,442 S354P possibly damaging Het
Ecm2 A T 13: 49,522,787 I327F possibly damaging Het
Elavl3 T C 9: 22,026,318 K189E possibly damaging Het
Enam A T 5: 88,488,734 R82* probably null Het
Erf A G 7: 25,246,211 V45A probably damaging Het
Fat3 T A 9: 16,021,330 I1436F probably benign Het
Flnc T C 6: 29,447,890 Y1231H probably damaging Het
Ggta1 T A 2: 35,402,791 H180L possibly damaging Het
Gm13103 G T 4: 143,853,303 R486L probably benign Het
Grin2c T C 11: 115,260,790 T115A probably damaging Het
H6pd C T 4: 149,982,778 V384M possibly damaging Het
Hba-x A G 11: 32,277,008 E39G probably benign Het
Hnrnpul2 C T 19: 8,829,827 P618S probably benign Het
Hpse2 C T 19: 42,788,957 R590H probably damaging Het
Ighv1-54 C A 12: 115,193,803 G75C probably damaging Het
Ighv8-11 C A 12: 115,567,154 R118L possibly damaging Het
Iqcm A T 8: 75,888,600 R436S possibly damaging Het
Islr T C 9: 58,157,606 D206G probably damaging Het
Itih1 A G 14: 30,936,701 probably null Het
Jam2 G A 16: 84,801,602 D34N probably benign Het
Klhl14 A T 18: 21,557,972 probably null Het
Lama2 TTTGCGCATT TTT 10: 27,043,643 probably null Het
Lrrc66 A G 5: 73,608,567 F378L probably benign Het
Map10 T A 8: 125,670,692 Y275N probably damaging Het
Mpi T C 9: 57,545,307 Y314C probably damaging Het
Mpp3 A G 11: 102,025,136 Y55H probably benign Het
Nectin4 T C 1: 171,384,815 V327A possibly damaging Het
Nlrp12 T A 7: 3,240,442 D480V probably damaging Het
Nolc1 GAGCAGCAGCAGCAGCAGCAGCAGCAGC GAGCAGCAGCAGCAGCAGCAGCAGC 19: 46,083,155 probably benign Het
Notch2 A T 3: 98,102,419 Y554F probably damaging Het
Nrsn2 T C 2: 152,369,611 K167E probably benign Het
Olfr147 A T 9: 38,403,468 N195I probably damaging Het
Olfr1472 T C 19: 13,454,521 probably null Het
Olfr1501 T A 19: 13,838,279 E298V probably damaging Het
Olfr695 T A 7: 106,873,970 I92F probably damaging Het
Olfr761 A T 17: 37,952,071 S318T probably benign Het
Olr1 T A 6: 129,493,596 K203* probably null Het
Osbpl9 T C 4: 109,068,367 N485S probably benign Het
Pbk T A 14: 65,815,201 H164Q probably damaging Het
Pfn2 G T 3: 57,847,453 N10K probably damaging Het
Pik3ca A G 3: 32,437,163 D133G probably damaging Het
Prl6a1 A T 13: 27,319,000 D193V probably damaging Het
Rad21 G T 15: 51,968,500 P395Q probably damaging Het
Reps1 T A 10: 18,123,625 I720N probably damaging Het
Rpn2 T C 2: 157,318,044 probably null Het
Rreb1 G A 13: 37,931,058 V798M possibly damaging Het
Sardh C T 2: 27,244,477 R9H probably benign Het
Scgb3a2 C T 18: 43,766,754 P36S probably damaging Het
Scn10a C A 9: 119,694,309 G6V possibly damaging Het
Scn10a C T 9: 119,694,310 G6R possibly damaging Het
Scn3a T C 2: 65,461,032 D1790G probably damaging Het
Sec24b A T 3: 129,983,970 H1226Q probably benign Het
Shroom3 G T 5: 92,943,086 V1151F probably damaging Het
Slc12a3 G A 8: 94,351,810 probably null Het
Slitrk6 T C 14: 110,751,883 T131A probably damaging Het
Spata1 C G 3: 146,469,774 D326H probably damaging Het
Tcrg-V4 T C 13: 19,185,066 V29A probably benign Het
Tex52 A T 6: 128,384,988 probably null Het
Tma16 A C 8: 66,481,477 C75W probably damaging Het
Tmem67 G A 4: 12,089,416 probably benign Het
Trmt10a A T 3: 138,148,385 K75* probably null Het
Ttc3 T C 16: 94,390,283 V228A probably benign Het
Ttn T C 2: 76,731,300 D28954G probably damaging Het
Uggt2 A G 14: 119,035,964 probably null Het
Vars T A 17: 35,015,726 V1177E probably benign Het
Vmn1r59 T C 7: 5,454,533 D76G possibly damaging Het
Vmn2r114 G T 17: 23,308,034 A508E probably benign Het
Vps41 G A 13: 18,829,255 V348M probably damaging Het
Zbtb43 T C 2: 33,453,932 H427R probably 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
IGL01340:Cfap221 APN 1 119953620 missense possibly damaging 0.76
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
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
X0017:Cfap221 UTSW 1 119961989 splice site probably null
Predicted Primers PCR Primer
(F):5'- TTTCTAGCCAGAGGGAAGGTAC -3'
(R):5'- TTTCTGACTTAGGCCTGCTAG -3'

Sequencing Primer
(F):5'- TACAGCTGGGGGCCACTTG -3'
(R):5'- CAGGAGTGTGTGTGGCCTTC -3'
Posted On2016-03-01