Incidental Mutation 'R4548:Cfap45'
ID 333851
Institutional Source Beutler Lab
Gene Symbol Cfap45
Ensembl Gene ENSMUSG00000026546
Gene Name cilia and flagella associated protein 45
Synonyms 1700028D05Rik, Nesg1, Ccdc19
MMRRC Submission 041594-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.715) question?
Stock # R4548 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 172348697-172373437 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 172372675 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 457 (I457V)
Ref Sequence ENSEMBL: ENSMUSP00000083057 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085894] [ENSMUST00000160303]
AlphaFold Q9D9U9
Predicted Effect probably benign
Transcript: ENSMUST00000085894
AA Change: I457V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000083057
Gene: ENSMUSG00000026546
AA Change: I457V

DomainStartEndE-ValueType
low complexity region 8 29 N/A INTRINSIC
Pfam:TPH 187 532 1.5e-85 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132370
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140307
Predicted Effect probably benign
Transcript: ENSMUST00000160303
SMART Domains Protein: ENSMUSP00000124646
Gene: ENSMUSG00000026546

DomainStartEndE-ValueType
Pfam:Trichoplein 1 64 1.9e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169111
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 A T 17: 24,553,245 (GRCm39) F155L possibly damaging Het
Adcy6 A G 15: 98,496,540 (GRCm39) I545T probably damaging Het
Afg2a T A 3: 37,486,176 (GRCm39) N299K probably benign Het
Akip1 C A 7: 109,304,193 (GRCm39) S90* probably null Het
Anln T C 9: 22,274,184 (GRCm39) D551G possibly damaging Het
Arhgef17 T C 7: 100,580,336 (GRCm39) Q204R possibly damaging Het
Arl6ip1 AAAATAAATAAATAAATAAATAAATA AAAATAAATAAATAAATAAATAAATAAATA 7: 117,721,122 (GRCm39) probably benign Het
Bcl2l11 A G 2: 127,971,566 (GRCm39) E75G probably benign Het
Cfap65 G A 1: 74,946,771 (GRCm39) T1313I probably damaging Het
Cntln C A 4: 85,015,079 (GRCm39) H1123Q probably benign Het
Cops3 C T 11: 59,718,671 (GRCm39) probably null Het
Dis3l2 A T 1: 86,977,393 (GRCm39) T861S probably benign Het
Dnajc11 A G 4: 152,058,074 (GRCm39) N281S possibly damaging Het
Fabp3 C T 4: 130,206,245 (GRCm39) probably null Het
Fras1 A G 5: 96,857,754 (GRCm39) D2016G probably benign Het
Gpr39 G A 1: 125,605,728 (GRCm39) V219I probably benign Het
Greb1 T C 12: 16,749,676 (GRCm39) D1050G probably damaging Het
Kcnh6 T C 11: 105,899,875 (GRCm39) F48S probably damaging Het
Kdm1b C T 13: 47,216,553 (GRCm39) R308W probably damaging Het
Mrm2 T C 5: 140,314,251 (GRCm39) T195A probably benign Het
Myzap T C 9: 71,457,528 (GRCm39) E289G possibly damaging Het
Nemp1 A G 10: 127,532,213 (GRCm39) E373G probably benign Het
Or13c7 T A 4: 43,854,834 (GRCm39) I175N probably damaging Het
Or8h10 T C 2: 86,809,014 (GRCm39) N42S probably damaging Het
Polr1c A T 17: 46,558,735 (GRCm39) probably null Het
Rev1 A G 1: 38,098,275 (GRCm39) M756T possibly damaging Het
Sacs A G 14: 61,429,387 (GRCm39) D482G probably damaging Het
Sfrp4 A G 13: 19,807,936 (GRCm39) M112V possibly damaging Het
Slc7a4 T C 16: 17,393,209 (GRCm39) T197A probably benign Het
Snx27 C T 3: 94,433,746 (GRCm39) probably benign Het
Speer2 T C 16: 69,655,737 (GRCm39) K30E probably damaging Het
Ssh2 G A 11: 77,341,010 (GRCm39) A721T probably benign Het
Trappc3 A G 4: 126,166,544 (GRCm39) D39G possibly damaging Het
Ttc28 G A 5: 111,419,090 (GRCm39) S1362N possibly damaging Het
Ugt2b35 A T 5: 87,156,134 (GRCm39) K409* probably null Het
Vmn2r92 A T 17: 18,391,578 (GRCm39) M527L probably benign Het
Zbed5 T A 5: 129,931,692 (GRCm39) L547* probably null Het
Other mutations in Cfap45
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00332:Cfap45 APN 1 172,362,912 (GRCm39) unclassified probably benign
IGL01936:Cfap45 APN 1 172,361,616 (GRCm39) missense probably damaging 1.00
IGL03235:Cfap45 APN 1 172,366,060 (GRCm39) missense possibly damaging 0.55
R0194:Cfap45 UTSW 1 172,368,894 (GRCm39) missense probably benign 0.05
R0883:Cfap45 UTSW 1 172,359,756 (GRCm39) missense possibly damaging 0.90
R1130:Cfap45 UTSW 1 172,373,264 (GRCm39) missense probably damaging 1.00
R1168:Cfap45 UTSW 1 172,373,264 (GRCm39) missense probably damaging 1.00
R1356:Cfap45 UTSW 1 172,355,430 (GRCm39) missense possibly damaging 0.53
R1522:Cfap45 UTSW 1 172,368,139 (GRCm39) missense probably damaging 1.00
R1921:Cfap45 UTSW 1 172,372,679 (GRCm39) missense probably damaging 1.00
R1922:Cfap45 UTSW 1 172,372,679 (GRCm39) missense probably damaging 1.00
R2203:Cfap45 UTSW 1 172,359,728 (GRCm39) missense probably benign 0.28
R2204:Cfap45 UTSW 1 172,359,728 (GRCm39) missense probably benign 0.28
R2205:Cfap45 UTSW 1 172,359,728 (GRCm39) missense probably benign 0.28
R3156:Cfap45 UTSW 1 172,373,291 (GRCm39) missense possibly damaging 0.93
R4059:Cfap45 UTSW 1 172,366,056 (GRCm39) missense probably benign 0.00
R4151:Cfap45 UTSW 1 172,359,788 (GRCm39) missense probably damaging 0.98
R4445:Cfap45 UTSW 1 172,362,794 (GRCm39) missense probably benign 0.07
R4582:Cfap45 UTSW 1 172,357,479 (GRCm39) missense probably benign 0.42
R4909:Cfap45 UTSW 1 172,357,443 (GRCm39) missense probably benign 0.14
R5200:Cfap45 UTSW 1 172,372,696 (GRCm39) nonsense probably null
R5800:Cfap45 UTSW 1 172,366,167 (GRCm39) missense probably damaging 0.98
R6520:Cfap45 UTSW 1 172,368,151 (GRCm39) missense probably damaging 1.00
R6662:Cfap45 UTSW 1 172,357,417 (GRCm39) missense probably benign 0.01
R7378:Cfap45 UTSW 1 172,365,910 (GRCm39) splice site probably null
R7390:Cfap45 UTSW 1 172,368,925 (GRCm39) missense probably benign 0.00
R7468:Cfap45 UTSW 1 172,362,877 (GRCm39) nonsense probably null
R7545:Cfap45 UTSW 1 172,366,163 (GRCm39) missense probably benign
R7988:Cfap45 UTSW 1 172,357,501 (GRCm39) missense probably damaging 1.00
R8212:Cfap45 UTSW 1 172,369,067 (GRCm39) splice site probably null
R8272:Cfap45 UTSW 1 172,355,406 (GRCm39) missense possibly damaging 0.53
R8939:Cfap45 UTSW 1 172,372,834 (GRCm39) missense probably damaging 1.00
R9461:Cfap45 UTSW 1 172,362,894 (GRCm39) missense possibly damaging 0.92
Z1176:Cfap45 UTSW 1 172,372,851 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GACAATGTATTTGGGTCTGTCC -3'
(R):5'- TGCTACGTCACCTCTTTGGG -3'

Sequencing Primer
(F):5'- TCTGTCCGGGGAGAGGAG -3'
(R):5'- TGATGTCCTCGATGCGC -3'
Posted On 2015-08-18