Incidental Mutation 'R4389:Cfap54'
ID 326337
Institutional Source Beutler Lab
Gene Symbol Cfap54
Ensembl Gene ENSMUSG00000020014
Gene Name cilia and flagella associated protein 54
Synonyms LOC380653, Gm872, 4930485B16Rik
MMRRC Submission 041126-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.096) question?
Stock # R4389 (G1)
Quality Score 206
Status Validated
Chromosome 10
Chromosomal Location 92775619-93081618 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 92967500 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Lysine to Methionine at position 1560 (K1560M)
Ref Sequence ENSEMBL: ENSMUSP00000148636 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000168110] [ENSMUST00000212902]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000168110
AA Change: K1560M

PolyPhen 2 Score 0.369 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000129517
Gene: ENSMUSG00000020014
AA Change: K1560M

DomainStartEndE-ValueType
low complexity region 3 37 N/A INTRINSIC
low complexity region 39 48 N/A INTRINSIC
Pfam:DUF4486 104 642 1.1e-269 PFAM
low complexity region 842 851 N/A INTRINSIC
low complexity region 902 915 N/A INTRINSIC
Blast:FN3 916 1002 4e-48 BLAST
low complexity region 1409 1426 N/A INTRINSIC
low complexity region 1974 1984 N/A INTRINSIC
low complexity region 2354 2370 N/A INTRINSIC
low complexity region 2500 2513 N/A INTRINSIC
low complexity region 2605 2616 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000212902
AA Change: K1560M

PolyPhen 2 Score 0.369 (Sensitivity: 0.90; Specificity: 0.89)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.7%
  • 10x: 96.6%
  • 20x: 92.6%
Validation Efficiency 87% (26/30)
MGI Phenotype PHENOTYPE: Homozygous inactivation of this gene causes background-dependent lethality and hydroencephaly, male sterility associated with defects in spermiogenesis, and impaired mucociliary clearance. Airway epithelial cilia show structural defects and a decrease in ciliary beat frequency and cilia-driven flow. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A C 11: 9,297,878 (GRCm38) T2542P probably damaging Het
Adprm C T 11: 67,038,193 (GRCm38) R324K probably benign Het
Cd109 CATTTATTTATTTATTTATTTATTTATTTATTTAT CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT 9: 78,712,500 (GRCm38) probably benign Het
Cd209b A G 8: 3,925,960 (GRCm38) L67P probably damaging Het
Ctps T C 4: 120,558,790 (GRCm38) D212G probably damaging Het
Ercc6 T A 14: 32,574,908 (GRCm38) L1285* probably null Het
Gzma G T 13: 113,098,388 (GRCm38) probably null Het
Kng2 T C 16: 23,024,868 (GRCm38) I120M possibly damaging Het
Lhx3 C T 2: 26,201,090 (GRCm38) probably benign Het
Mtfr1l T C 4: 134,532,642 (GRCm38) probably benign Het
Ndufb4 T C 16: 37,647,670 (GRCm38) N126S probably benign Het
Nlrp4e A G 7: 23,321,227 (GRCm38) I380V probably benign Het
Nptn A G 9: 58,643,772 (GRCm38) K361E probably damaging Het
Olfr262 A G 19: 12,241,139 (GRCm38) V174A probably damaging Het
Orc2 T C 1: 58,474,861 (GRCm38) D332G probably benign Het
Pcdha4 T C 18: 36,954,789 (GRCm38) V675A probably benign Het
Rpl7a-ps3 G A 15: 36,308,283 (GRCm38) noncoding transcript Het
Slc13a1 A T 6: 24,092,398 (GRCm38) probably null Het
Tec A G 5: 72,782,007 (GRCm38) Y222H probably benign Het
Ttll2 T A 17: 7,351,200 (GRCm38) R443* probably null Het
Vmn1r66 A T 7: 10,274,788 (GRCm38) L106* probably null Het
Zfp189 A G 4: 49,529,934 (GRCm38) R346G probably damaging Het
Other mutations in Cfap54
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01329:Cfap54 APN 10 93,081,523 (GRCm38) missense unknown
IGL02034:Cfap54 APN 10 93,061,485 (GRCm38) missense probably damaging 0.99
IGL02082:Cfap54 APN 10 93,081,458 (GRCm38) missense unknown
IGL02434:Cfap54 APN 10 93,066,754 (GRCm38) missense probably benign 0.20
R0011:Cfap54 UTSW 10 93,065,225 (GRCm38) missense probably damaging 0.97
R0011:Cfap54 UTSW 10 93,065,225 (GRCm38) missense probably damaging 0.97
R0032:Cfap54 UTSW 10 92,932,697 (GRCm38) missense probably benign 0.04
R0032:Cfap54 UTSW 10 92,932,697 (GRCm38) missense probably benign 0.04
R0040:Cfap54 UTSW 10 92,977,039 (GRCm38) missense probably benign 0.33
R0044:Cfap54 UTSW 10 93,035,433 (GRCm38) missense probably null 0.46
R0086:Cfap54 UTSW 10 93,028,594 (GRCm38) missense possibly damaging 0.86
R0104:Cfap54 UTSW 10 93,028,652 (GRCm38) missense probably damaging 1.00
R0194:Cfap54 UTSW 10 93,034,662 (GRCm38) unclassified probably benign
R0234:Cfap54 UTSW 10 92,899,160 (GRCm38) nonsense probably null
R0308:Cfap54 UTSW 10 92,885,364 (GRCm38) missense unknown
R0332:Cfap54 UTSW 10 93,035,457 (GRCm38) missense probably damaging 1.00
R0409:Cfap54 UTSW 10 92,776,213 (GRCm38) missense probably benign 0.00
R0433:Cfap54 UTSW 10 92,979,080 (GRCm38) splice site probably benign
R0436:Cfap54 UTSW 10 93,038,975 (GRCm38) missense possibly damaging 0.95
R0463:Cfap54 UTSW 10 92,874,943 (GRCm38) critical splice donor site probably null
R0523:Cfap54 UTSW 10 92,908,883 (GRCm38) utr 3 prime probably benign
R0551:Cfap54 UTSW 10 93,025,122 (GRCm38) missense probably benign 0.35
R0595:Cfap54 UTSW 10 92,884,736 (GRCm38) missense unknown
R0617:Cfap54 UTSW 10 92,829,650 (GRCm38) splice site probably benign
R0632:Cfap54 UTSW 10 92,885,096 (GRCm38) missense unknown
R0730:Cfap54 UTSW 10 93,034,737 (GRCm38) missense probably benign 0.05
R0786:Cfap54 UTSW 10 92,967,535 (GRCm38) missense possibly damaging 0.72
R0883:Cfap54 UTSW 10 92,870,669 (GRCm38) missense unknown
R1004:Cfap54 UTSW 10 93,066,696 (GRCm38) splice site probably benign
R1033:Cfap54 UTSW 10 92,839,449 (GRCm38) missense probably benign 0.07
R1168:Cfap54 UTSW 10 92,937,920 (GRCm38) missense probably damaging 0.99
R1186:Cfap54 UTSW 10 92,875,994 (GRCm38) missense unknown
R1429:Cfap54 UTSW 10 92,821,038 (GRCm38) missense probably benign 0.01
R1443:Cfap54 UTSW 10 92,932,721 (GRCm38) missense probably damaging 1.00
R1467:Cfap54 UTSW 10 92,969,763 (GRCm38) missense probably benign 0.01
R1557:Cfap54 UTSW 10 92,984,227 (GRCm38) missense possibly damaging 0.68
R1687:Cfap54 UTSW 10 92,932,640 (GRCm38) missense probably damaging 1.00
R1690:Cfap54 UTSW 10 93,035,442 (GRCm38) missense possibly damaging 0.95
R1711:Cfap54 UTSW 10 93,011,020 (GRCm38) missense probably damaging 1.00
R1756:Cfap54 UTSW 10 93,048,061 (GRCm38) missense probably damaging 1.00
R1769:Cfap54 UTSW 10 92,904,263 (GRCm38) critical splice donor site probably null
R1835:Cfap54 UTSW 10 92,962,375 (GRCm38) missense probably benign 0.35
R1889:Cfap54 UTSW 10 93,034,710 (GRCm38) missense possibly damaging 0.94
R1915:Cfap54 UTSW 10 92,884,702 (GRCm38) missense unknown
R1958:Cfap54 UTSW 10 92,997,342 (GRCm38) missense probably benign 0.18
R2005:Cfap54 UTSW 10 92,884,768 (GRCm38) missense unknown
R2018:Cfap54 UTSW 10 93,016,604 (GRCm38) missense probably benign 0.00
R2045:Cfap54 UTSW 10 93,038,809 (GRCm38) splice site probably null
R2059:Cfap54 UTSW 10 92,942,979 (GRCm38) unclassified probably benign
R2100:Cfap54 UTSW 10 93,001,937 (GRCm38) missense possibly damaging 0.84
R2110:Cfap54 UTSW 10 92,886,367 (GRCm38) missense unknown
R2392:Cfap54 UTSW 10 93,025,011 (GRCm38) critical splice donor site probably null
R2508:Cfap54 UTSW 10 92,997,374 (GRCm38) missense possibly damaging 0.72
R2852:Cfap54 UTSW 10 92,940,155 (GRCm38) missense probably damaging 1.00
R2857:Cfap54 UTSW 10 93,045,282 (GRCm38) missense probably damaging 0.99
R2871:Cfap54 UTSW 10 92,921,419 (GRCm38) missense possibly damaging 0.86
R2871:Cfap54 UTSW 10 92,921,419 (GRCm38) missense possibly damaging 0.86
R3107:Cfap54 UTSW 10 92,994,683 (GRCm38) missense probably benign 0.04
R3108:Cfap54 UTSW 10 92,994,683 (GRCm38) missense probably benign 0.04
R3157:Cfap54 UTSW 10 92,999,056 (GRCm38) missense probably benign 0.03
R3158:Cfap54 UTSW 10 92,999,056 (GRCm38) missense probably benign 0.03
R3159:Cfap54 UTSW 10 92,999,056 (GRCm38) missense probably benign 0.03
R3161:Cfap54 UTSW 10 93,045,278 (GRCm38) missense probably damaging 1.00
R3162:Cfap54 UTSW 10 93,045,278 (GRCm38) missense probably damaging 1.00
R3162:Cfap54 UTSW 10 93,045,278 (GRCm38) missense probably damaging 1.00
R3508:Cfap54 UTSW 10 92,885,424 (GRCm38) missense unknown
R3730:Cfap54 UTSW 10 93,011,473 (GRCm38) nonsense probably null
R3770:Cfap54 UTSW 10 92,878,536 (GRCm38) missense unknown
R3776:Cfap54 UTSW 10 93,045,100 (GRCm38) missense probably damaging 1.00
R3778:Cfap54 UTSW 10 92,904,344 (GRCm38) utr 3 prime probably benign
R3795:Cfap54 UTSW 10 92,942,873 (GRCm38) unclassified probably benign
R3834:Cfap54 UTSW 10 92,801,123 (GRCm38) splice site probably benign
R3891:Cfap54 UTSW 10 93,038,846 (GRCm38) missense possibly damaging 0.87
R3932:Cfap54 UTSW 10 92,829,757 (GRCm38) missense probably benign 0.03
R3973:Cfap54 UTSW 10 92,839,471 (GRCm38) missense possibly damaging 0.95
R3974:Cfap54 UTSW 10 92,839,471 (GRCm38) missense possibly damaging 0.95
R3976:Cfap54 UTSW 10 92,839,471 (GRCm38) missense possibly damaging 0.95
R3978:Cfap54 UTSW 10 92,962,412 (GRCm38) missense probably benign 0.01
R4190:Cfap54 UTSW 10 92,885,023 (GRCm38) missense unknown
R4542:Cfap54 UTSW 10 93,025,129 (GRCm38) missense probably benign 0.12
R4564:Cfap54 UTSW 10 92,839,540 (GRCm38) unclassified probably benign
R4576:Cfap54 UTSW 10 93,043,228 (GRCm38) critical splice donor site probably null
R4620:Cfap54 UTSW 10 92,969,757 (GRCm38) missense probably benign 0.01
R4714:Cfap54 UTSW 10 92,815,918 (GRCm38) missense probably benign 0.01
R4762:Cfap54 UTSW 10 93,061,453 (GRCm38) splice site probably null
R4776:Cfap54 UTSW 10 92,972,694 (GRCm38) missense possibly damaging 0.96
R4819:Cfap54 UTSW 10 92,836,477 (GRCm38) nonsense probably null
R4827:Cfap54 UTSW 10 92,902,075 (GRCm38) utr 3 prime probably benign
R4832:Cfap54 UTSW 10 92,967,528 (GRCm38) missense probably benign 0.01
R4965:Cfap54 UTSW 10 93,066,799 (GRCm38) missense probably benign 0.23
R5001:Cfap54 UTSW 10 92,964,534 (GRCm38) missense probably benign 0.01
R5060:Cfap54 UTSW 10 93,039,151 (GRCm38) missense probably damaging 1.00
R5067:Cfap54 UTSW 10 93,066,766 (GRCm38) missense probably benign 0.17
R5069:Cfap54 UTSW 10 92,937,774 (GRCm38) missense probably benign
R5094:Cfap54 UTSW 10 92,898,999 (GRCm38) utr 3 prime probably benign
R5109:Cfap54 UTSW 10 92,937,891 (GRCm38) missense probably benign 0.03
R5127:Cfap54 UTSW 10 92,886,387 (GRCm38) splice site probably null
R5143:Cfap54 UTSW 10 93,029,158 (GRCm38) missense possibly damaging 0.73
R5147:Cfap54 UTSW 10 92,937,838 (GRCm38) missense probably benign 0.00
R5158:Cfap54 UTSW 10 93,065,197 (GRCm38) missense probably damaging 1.00
R5256:Cfap54 UTSW 10 93,045,023 (GRCm38) splice site probably null
R5256:Cfap54 UTSW 10 92,935,091 (GRCm38) nonsense probably null
R5266:Cfap54 UTSW 10 92,815,902 (GRCm38) missense probably benign 0.16
R5304:Cfap54 UTSW 10 92,821,106 (GRCm38) missense probably damaging 0.97
R5369:Cfap54 UTSW 10 93,061,257 (GRCm38) intron probably benign
R5406:Cfap54 UTSW 10 93,001,858 (GRCm38) missense probably benign 0.33
R5471:Cfap54 UTSW 10 93,028,660 (GRCm38) missense probably damaging 1.00
R5485:Cfap54 UTSW 10 93,029,117 (GRCm38) missense probably damaging 1.00
R5540:Cfap54 UTSW 10 92,972,608 (GRCm38) missense possibly damaging 0.85
R5586:Cfap54 UTSW 10 92,972,611 (GRCm38) nonsense probably null
R5614:Cfap54 UTSW 10 93,045,049 (GRCm38) missense probably damaging 1.00
R5634:Cfap54 UTSW 10 92,904,263 (GRCm38) critical splice donor site probably benign
R5680:Cfap54 UTSW 10 92,979,017 (GRCm38) nonsense probably null
R5797:Cfap54 UTSW 10 92,967,576 (GRCm38) missense probably benign 0.11
R5859:Cfap54 UTSW 10 93,016,524 (GRCm38) nonsense probably null
R5878:Cfap54 UTSW 10 92,964,561 (GRCm38) missense probably benign 0.01
R5910:Cfap54 UTSW 10 93,065,181 (GRCm38) missense probably damaging 0.99
R5936:Cfap54 UTSW 10 92,962,412 (GRCm38) missense probably benign 0.01
R5994:Cfap54 UTSW 10 93,039,081 (GRCm38) missense probably damaging 0.99
R6080:Cfap54 UTSW 10 93,045,335 (GRCm38) missense possibly damaging 0.64
R6268:Cfap54 UTSW 10 93,038,909 (GRCm38) missense probably damaging 1.00
R6296:Cfap54 UTSW 10 93,066,846 (GRCm38) missense probably damaging 1.00
R6409:Cfap54 UTSW 10 92,967,492 (GRCm38) missense probably benign 0.04
R6545:Cfap54 UTSW 10 92,836,457 (GRCm38) missense probably benign 0.31
R6570:Cfap54 UTSW 10 92,815,958 (GRCm38) missense unknown
R6597:Cfap54 UTSW 10 92,999,040 (GRCm38) missense possibly damaging 0.85
R6702:Cfap54 UTSW 10 92,868,734 (GRCm38) missense unknown
R6703:Cfap54 UTSW 10 92,868,734 (GRCm38) missense unknown
R6720:Cfap54 UTSW 10 92,821,119 (GRCm38) missense probably benign 0.07
R6841:Cfap54 UTSW 10 92,875,015 (GRCm38) missense unknown
R6910:Cfap54 UTSW 10 92,836,512 (GRCm38) missense probably benign 0.29
R6953:Cfap54 UTSW 10 92,994,678 (GRCm38) missense probably benign 0.19
R7009:Cfap54 UTSW 10 92,875,019 (GRCm38) missense unknown
R7129:Cfap54 UTSW 10 93,016,571 (GRCm38) missense probably benign 0.06
R7131:Cfap54 UTSW 10 92,821,104 (GRCm38) missense probably benign 0.03
R7171:Cfap54 UTSW 10 92,776,210 (GRCm38) missense probably damaging 0.99
R7189:Cfap54 UTSW 10 92,937,728 (GRCm38) missense unknown
R7225:Cfap54 UTSW 10 92,904,374 (GRCm38) missense unknown
R7270:Cfap54 UTSW 10 92,839,458 (GRCm38) missense probably benign 0.03
R7323:Cfap54 UTSW 10 92,801,138 (GRCm38) missense probably benign 0.00
R7380:Cfap54 UTSW 10 93,047,978 (GRCm38) missense probably damaging 1.00
R7395:Cfap54 UTSW 10 92,884,703 (GRCm38) missense unknown
R7411:Cfap54 UTSW 10 92,868,755 (GRCm38) missense unknown
R7503:Cfap54 UTSW 10 92,887,436 (GRCm38) splice site probably null
R7622:Cfap54 UTSW 10 92,956,944 (GRCm38) missense unknown
R7679:Cfap54 UTSW 10 92,967,512 (GRCm38) missense probably benign 0.01
R7776:Cfap54 UTSW 10 92,868,741 (GRCm38) missense unknown
R7844:Cfap54 UTSW 10 92,902,058 (GRCm38) missense unknown
R7980:Cfap54 UTSW 10 92,982,060 (GRCm38) missense possibly damaging 0.95
R7988:Cfap54 UTSW 10 92,902,079 (GRCm38) missense unknown
R8101:Cfap54 UTSW 10 92,884,796 (GRCm38) missense unknown
R8119:Cfap54 UTSW 10 92,868,810 (GRCm38) missense unknown
R8134:Cfap54 UTSW 10 92,878,516 (GRCm38) missense unknown
R8168:Cfap54 UTSW 10 92,908,877 (GRCm38) missense unknown
R8179:Cfap54 UTSW 10 92,997,316 (GRCm38) missense possibly damaging 0.68
R8392:Cfap54 UTSW 10 92,962,417 (GRCm38) missense unknown
R8436:Cfap54 UTSW 10 92,964,536 (GRCm38) missense unknown
R8505:Cfap54 UTSW 10 92,978,993 (GRCm38) missense probably benign 0.03
R8671:Cfap54 UTSW 10 92,955,072 (GRCm38) missense unknown
R8716:Cfap54 UTSW 10 92,964,632 (GRCm38) missense probably benign 0.00
R8816:Cfap54 UTSW 10 92,878,592 (GRCm38) missense unknown
R8822:Cfap54 UTSW 10 93,039,141 (GRCm38) missense probably benign 0.09
R8827:Cfap54 UTSW 10 92,938,248 (GRCm38) missense unknown
R8920:Cfap54 UTSW 10 92,940,337 (GRCm38) critical splice acceptor site probably null
R8924:Cfap54 UTSW 10 93,001,823 (GRCm38) missense probably damaging 0.99
R8954:Cfap54 UTSW 10 93,043,393 (GRCm38) missense probably damaging 1.00
R8963:Cfap54 UTSW 10 93,028,700 (GRCm38) nonsense probably null
R9010:Cfap54 UTSW 10 92,899,059 (GRCm38) missense unknown
R9017:Cfap54 UTSW 10 92,816,021 (GRCm38) missense probably benign 0.07
R9093:Cfap54 UTSW 10 92,815,908 (GRCm38) missense probably benign 0.03
R9095:Cfap54 UTSW 10 93,011,020 (GRCm38) missense probably damaging 1.00
R9142:Cfap54 UTSW 10 92,984,235 (GRCm38) missense possibly damaging 0.87
R9178:Cfap54 UTSW 10 92,994,717 (GRCm38) missense probably benign 0.10
R9196:Cfap54 UTSW 10 93,037,891 (GRCm38) missense probably benign 0.22
R9203:Cfap54 UTSW 10 93,045,128 (GRCm38) missense probably benign 0.30
R9258:Cfap54 UTSW 10 92,935,098 (GRCm38) missense unknown
R9275:Cfap54 UTSW 10 93,039,186 (GRCm38) missense possibly damaging 0.86
R9287:Cfap54 UTSW 10 92,969,703 (GRCm38) missense possibly damaging 0.50
R9289:Cfap54 UTSW 10 92,821,074 (GRCm38) missense possibly damaging 0.83
R9310:Cfap54 UTSW 10 92,962,315 (GRCm38) missense unknown
R9397:Cfap54 UTSW 10 92,997,285 (GRCm38) missense probably damaging 0.96
R9462:Cfap54 UTSW 10 92,902,058 (GRCm38) missense unknown
R9697:Cfap54 UTSW 10 92,956,989 (GRCm38) missense unknown
R9746:Cfap54 UTSW 10 92,801,219 (GRCm38) missense probably benign 0.03
R9755:Cfap54 UTSW 10 92,921,368 (GRCm38) missense unknown
X0022:Cfap54 UTSW 10 92,932,614 (GRCm38) missense probably damaging 1.00
X0022:Cfap54 UTSW 10 92,878,603 (GRCm38) missense unknown
X0027:Cfap54 UTSW 10 93,001,888 (GRCm38) missense possibly damaging 0.86
X0027:Cfap54 UTSW 10 92,878,538 (GRCm38) missense unknown
Z1177:Cfap54 UTSW 10 92,979,026 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACACAACTAAATGGCTGGGC -3'
(R):5'- GCCAAGAGAACCTATGGTCTAAGATC -3'

Sequencing Primer
(F):5'- GGCACATATATCTATCAGTTCGTGTG -3'
(R):5'- GAGAACCTATGGTCTAAGATCACAAC -3'
Posted On 2015-07-06