Incidental Mutation 'R7011:Cfap53'
ID 545054
Institutional Source Beutler Lab
Gene Symbol Cfap53
Ensembl Gene ENSMUSG00000035394
Gene Name cilia and flagella associated protein 53
Synonyms 4933415I03Rik, Ccdc11
MMRRC Submission 045112-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.443) question?
Stock # R7011 (G1)
Quality Score 220.009
Status Validated
Chromosome 18
Chromosomal Location 74416171-74493055 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 74462564 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 436 (D436V)
Ref Sequence ENSEMBL: ENSMUSP00000110545 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114895] [ENSMUST00000176435]
AlphaFold Q9D439
Predicted Effect probably benign
Transcript: ENSMUST00000114895
AA Change: D436V

PolyPhen 2 Score 0.133 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000110545
Gene: ENSMUSG00000035394
AA Change: D436V

DomainStartEndE-ValueType
low complexity region 131 145 N/A INTRINSIC
Pfam:TPH 160 495 1.3e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000176435
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 96% (66/69)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the CFAP53 family. It was found to be differentially expressed by the ciliated cells of frog epidermis and in skin fibroblasts from human. Mutations in this gene are associated with visceral heterotaxy-6, which implicates this gene in determination of left-right asymmetric patterning. [provided by RefSeq, Aug 2015]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam19 C T 11: 46,033,845 (GRCm39) P886S probably benign Het
Anapc1 C T 2: 128,490,601 (GRCm39) probably null Het
Ankrd34c C A 9: 89,611,001 (GRCm39) G447* probably null Het
Apbb1ip A T 2: 22,725,943 (GRCm39) E238D probably damaging Het
Arfgap1 T C 2: 180,613,935 (GRCm39) L110P probably damaging Het
Arhgap21 G A 2: 20,853,689 (GRCm39) T1901I possibly damaging Het
Brpf1 C A 6: 113,295,427 (GRCm39) Q679K probably benign Het
Btnl2 A G 17: 34,582,487 (GRCm39) E351G probably damaging Het
Cd209f T A 8: 4,154,859 (GRCm39) T80S probably benign Het
Cdc16 A G 8: 13,819,451 (GRCm39) E349G probably damaging Het
Crhr2 A T 6: 55,076,195 (GRCm39) probably null Het
Cux1 T C 5: 136,388,887 (GRCm39) K226E probably damaging Het
Ddr2 A T 1: 169,809,672 (GRCm39) D768E probably damaging Het
Dhx8 T C 11: 101,632,346 (GRCm39) L435P probably damaging Het
Dnah11 AGGCC AGGCCGGCC 12: 117,885,753 (GRCm39) probably null Het
Eif4ebp1 G A 8: 27,763,372 (GRCm39) R55Q probably damaging Het
Fbh1 T A 2: 11,767,774 (GRCm39) D358V probably damaging Het
Fra10ac1 T A 19: 38,177,242 (GRCm39) E304D probably benign Het
Gabrb2 T C 11: 42,517,488 (GRCm39) S399P possibly damaging Het
Gpatch2l G A 12: 86,290,958 (GRCm39) R47H probably damaging Het
Gprin2 G T 14: 33,917,393 (GRCm39) H126N probably null Het
Gucy1a1 A G 3: 82,016,422 (GRCm39) S189P probably damaging Het
Htr1d T C 4: 136,170,317 (GRCm39) M182T probably benign Het
Lipc A G 9: 70,726,236 (GRCm39) F73L probably benign Het
Liph A G 16: 21,802,847 (GRCm39) I74T probably damaging Het
Lrif1 T G 3: 106,639,601 (GRCm39) Y229D probably damaging Het
Magel2 C T 7: 62,028,281 (GRCm39) T395I possibly damaging Het
Magi3 T C 3: 104,013,070 (GRCm39) N139S probably damaging Het
Man2c1 T A 9: 57,045,117 (GRCm39) V336E probably damaging Het
Mapk12 A T 15: 89,019,803 (GRCm39) Y135N probably damaging Het
Mapkapk3 C T 9: 107,166,595 (GRCm39) probably benign Het
Mast1 A T 8: 85,638,574 (GRCm39) Y653* probably null Het
Muc16 T A 9: 18,548,747 (GRCm39) I5849F probably benign Het
Muc16 T A 9: 18,548,839 (GRCm39) H5818L probably benign Het
Ndufa10 A G 1: 92,398,581 (GRCm39) S68P probably damaging Het
Nedd1 C A 10: 92,526,635 (GRCm39) L503F probably benign Het
Nr1i3 A G 1: 171,041,927 (GRCm39) M4V probably benign Het
Or12e9 G A 2: 87,202,604 (GRCm39) A243T possibly damaging Het
Or2av9 T A 11: 58,380,970 (GRCm39) I204F possibly damaging Het
Or4f14b A T 2: 111,775,031 (GRCm39) F257I probably benign Het
Or9i2 T C 19: 13,816,403 (GRCm39) I45V probably benign Het
Pcdh18 A T 3: 49,709,231 (GRCm39) S695T probably benign Het
Pcdha1 T C 18: 37,063,588 (GRCm39) I84T probably damaging Het
Plek T A 11: 16,944,760 (GRCm39) D90V possibly damaging Het
Ppp6r1 A G 7: 4,649,825 (GRCm39) C47R probably damaging Het
Psg27 G C 7: 18,290,798 (GRCm39) N468K probably benign Het
Ptchd4 G A 17: 42,814,759 (GRCm39) E887K probably benign Het
Rabgap1 C T 2: 37,430,492 (GRCm39) L678F probably damaging Het
Rmdn3 T C 2: 118,968,904 (GRCm39) Y429C probably damaging Het
Ros1 A T 10: 52,056,272 (GRCm39) C73S probably damaging Het
Rtkn2 G A 10: 67,815,495 (GRCm39) probably benign Het
Slc25a42 A G 8: 70,639,352 (GRCm39) S242P probably damaging Het
Smtnl1 T A 2: 84,648,753 (GRCm39) D167V probably benign Het
Smurf2 A G 11: 106,724,610 (GRCm39) L511P probably benign Het
Stbd1 A T 5: 92,752,977 (GRCm39) K156* probably null Het
Tenm4 G T 7: 96,545,342 (GRCm39) G2453* probably null Het
Tent4a C T 13: 69,648,199 (GRCm39) G489S probably damaging Het
Tpr A G 1: 150,309,523 (GRCm39) K1760E probably damaging Het
Triobp T A 15: 78,862,923 (GRCm39) L1427Q probably damaging Het
Uaca A G 9: 60,777,650 (GRCm39) E679G probably damaging Het
Ucn3 T G 13: 3,991,421 (GRCm39) H77P possibly damaging Het
Wnk2 T A 13: 49,224,567 (GRCm39) D998V probably damaging Het
Xrcc3 A G 12: 111,770,969 (GRCm39) V320A probably damaging Het
Zdbf2 A G 1: 63,345,925 (GRCm39) T1435A possibly damaging Het
Zfp36l2 G T 17: 84,493,861 (GRCm39) H259N possibly damaging Het
Zfp619 A T 7: 39,187,186 (GRCm39) H1072L probably damaging Het
Zfy2 T A Y: 2,107,127 (GRCm39) E502D possibly damaging Het
Zfyve16 G A 13: 92,658,495 (GRCm39) P472L probably benign Het
Other mutations in Cfap53
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00579:Cfap53 APN 18 74,438,611 (GRCm39) nonsense probably null
IGL00667:Cfap53 APN 18 74,433,263 (GRCm39) missense probably damaging 1.00
IGL00917:Cfap53 APN 18 74,432,367 (GRCm39) missense probably benign 0.08
R0009:Cfap53 UTSW 18 74,432,247 (GRCm39) missense probably benign 0.00
R0009:Cfap53 UTSW 18 74,432,247 (GRCm39) missense probably benign 0.00
R0035:Cfap53 UTSW 18 74,433,278 (GRCm39) missense probably damaging 1.00
R0035:Cfap53 UTSW 18 74,433,278 (GRCm39) missense probably damaging 1.00
R0048:Cfap53 UTSW 18 74,432,244 (GRCm39) missense probably benign 0.09
R0601:Cfap53 UTSW 18 74,433,221 (GRCm39) missense possibly damaging 0.94
R0939:Cfap53 UTSW 18 74,438,801 (GRCm39) missense probably null 0.72
R1166:Cfap53 UTSW 18 74,433,251 (GRCm39) missense possibly damaging 0.68
R1588:Cfap53 UTSW 18 74,440,444 (GRCm39) missense probably benign
R2105:Cfap53 UTSW 18 74,416,294 (GRCm39) missense possibly damaging 0.73
R2186:Cfap53 UTSW 18 74,462,576 (GRCm39) splice site probably null
R3723:Cfap53 UTSW 18 74,492,640 (GRCm39) missense probably benign 0.13
R3724:Cfap53 UTSW 18 74,492,640 (GRCm39) missense probably benign 0.13
R3904:Cfap53 UTSW 18 74,440,445 (GRCm39) missense probably damaging 0.99
R5156:Cfap53 UTSW 18 74,492,838 (GRCm39) utr 3 prime probably benign
R5262:Cfap53 UTSW 18 74,462,530 (GRCm39) missense probably benign 0.39
R5928:Cfap53 UTSW 18 74,492,811 (GRCm39) missense possibly damaging 0.90
R6405:Cfap53 UTSW 18 74,492,677 (GRCm39) missense probably damaging 1.00
R6653:Cfap53 UTSW 18 74,433,280 (GRCm39) missense probably damaging 0.97
R6675:Cfap53 UTSW 18 74,440,447 (GRCm39) critical splice donor site probably null
R7397:Cfap53 UTSW 18 74,416,294 (GRCm39) missense possibly damaging 0.73
R8943:Cfap53 UTSW 18 74,432,253 (GRCm39) missense probably damaging 0.97
R9132:Cfap53 UTSW 18 74,416,272 (GRCm39) missense probably damaging 0.98
R9159:Cfap53 UTSW 18 74,416,272 (GRCm39) missense probably damaging 0.98
R9389:Cfap53 UTSW 18 74,432,414 (GRCm39) critical splice donor site probably null
R9548:Cfap53 UTSW 18 74,438,040 (GRCm39) missense possibly damaging 0.59
R9679:Cfap53 UTSW 18 74,492,656 (GRCm39) missense possibly damaging 0.89
R9792:Cfap53 UTSW 18 74,438,741 (GRCm39) missense probably benign 0.44
R9793:Cfap53 UTSW 18 74,438,741 (GRCm39) missense probably benign 0.44
R9795:Cfap53 UTSW 18 74,438,741 (GRCm39) missense probably benign 0.44
Z1177:Cfap53 UTSW 18 74,438,623 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TTCTAGAGACAACGTGGCTTT -3'
(R):5'- TGCGACCATTCAATCCCAC -3'

Sequencing Primer
(F):5'- GCTTTAGTGCCCAGAAAGCGATC -3'
(R):5'- CATTCAATCCCACAATGACAGTG -3'
Posted On 2019-05-13