Incidental Mutation 'R5800:Cfap45'
ID 447332
Institutional Source Beutler Lab
Gene Symbol Cfap45
Ensembl Gene ENSMUSG00000026546
Gene Name cilia and flagella associated protein 45
Synonyms 1700028D05Rik, Nesg1, Ccdc19
MMRRC Submission 043389-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.715) question?
Stock # R5800 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 172348697-172373437 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 172366167 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 30 (V30E)
Ref Sequence ENSEMBL: ENSMUSP00000124646 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085894] [ENSMUST00000160303]
AlphaFold Q9D9U9
Predicted Effect probably damaging
Transcript: ENSMUST00000085894
AA Change: V340E

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000083057
Gene: ENSMUSG00000026546
AA Change: V340E

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 damaging
Transcript: ENSMUST00000160303
AA Change: V30E

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000124646
Gene: ENSMUSG00000026546
AA Change: V30E

DomainStartEndE-ValueType
Pfam:Trichoplein 1 64 1.9e-12 PFAM
Meta Mutation Damage Score 0.0875 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 96% (50/52)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A T 1: 71,360,591 (GRCm39) V540D possibly damaging Het
Adamts8 A T 9: 30,865,778 (GRCm39) D442V probably damaging Het
B3galt9 T C 2: 34,728,654 (GRCm39) F151S possibly damaging Het
Bltp1 A G 3: 37,106,592 (GRCm39) D4974G probably damaging Het
Casp4 G A 9: 5,308,915 (GRCm39) probably null Het
Col6a4 A G 9: 105,957,474 (GRCm39) F117L probably damaging Het
Dnah7c A T 1: 46,686,175 (GRCm39) T1810S probably benign Het
Drosha C T 15: 12,865,153 (GRCm39) T627M probably damaging Het
Drosha C A 15: 12,902,733 (GRCm39) A1001D probably damaging Het
Efhc1 G A 1: 21,049,005 (GRCm39) V473I probably benign Het
Ephx2 T C 14: 66,344,751 (GRCm39) K191R probably benign Het
Ero1b T A 13: 12,617,190 (GRCm39) probably null Het
Esyt2 A T 12: 116,333,808 (GRCm39) D837V possibly damaging Het
Fip1l1 T A 5: 74,706,742 (GRCm39) D126E possibly damaging Het
Fyttd1 C T 16: 32,711,658 (GRCm39) R86C probably damaging Het
Gm12888 T A 4: 121,176,625 (GRCm39) T59S probably damaging Het
Gm7353 A T 7: 3,160,168 (GRCm39) noncoding transcript Het
Gpr153 C T 4: 152,364,534 (GRCm39) Q197* probably null Het
Grep1 G A 17: 23,936,966 (GRCm39) P72S probably damaging Het
H2-T23 G T 17: 36,342,496 (GRCm39) probably benign Het
Ighv1-16 T A 12: 114,629,531 (GRCm39) R85S probably benign Het
Ipcef1 T A 10: 6,840,569 (GRCm39) D376V probably damaging Het
Kdm1a T A 4: 136,300,381 (GRCm39) probably null Het
Klk1b27 A T 7: 43,705,088 (GRCm39) Q85L probably benign Het
Krt39 A T 11: 99,411,971 (GRCm39) D38E probably benign Het
L1td1 T C 4: 98,621,999 (GRCm39) L187P possibly damaging Het
Lrrc8b C T 5: 105,629,208 (GRCm39) S518L probably benign Het
Lyg1 C T 1: 37,986,034 (GRCm39) D176N probably damaging Het
Mctp1 A G 13: 76,836,678 (GRCm39) N82D probably damaging Het
Muc6 T C 7: 141,226,690 (GRCm39) probably benign Het
Nynrin T C 14: 56,108,088 (GRCm39) L1065P probably damaging Het
Or5b118 T C 19: 13,449,260 (GRCm39) S309P probably benign Het
Pcdh7 T A 5: 57,879,567 (GRCm39) S1041T probably damaging Het
Pkd1l1 T A 11: 8,811,302 (GRCm39) M1518L probably benign Het
Prl8a6 G T 13: 27,619,453 (GRCm39) Q90K probably benign Het
Ptcd1 T A 5: 145,096,475 (GRCm39) D206V probably damaging Het
Rap1gap C A 4: 137,447,688 (GRCm39) D478E probably benign Het
Scn5a A G 9: 119,330,732 (GRCm39) Y1269H probably damaging Het
Sdc2 A T 15: 33,028,290 (GRCm39) H136L probably benign Het
Senp6 A T 9: 80,033,715 (GRCm39) I120F probably damaging Het
Shisa5 G A 9: 108,885,162 (GRCm39) probably null Het
Slc19a1 A G 10: 76,878,103 (GRCm39) S213G probably null Het
Smim8 TTTAATGAAGAGCT TT 4: 34,771,261 (GRCm39) probably benign Het
Tbc1d20 T A 2: 152,150,245 (GRCm39) probably null Het
Tll2 T C 19: 41,093,373 (GRCm39) H481R probably benign Het
Tmc7 A G 7: 118,138,663 (GRCm39) V692A probably benign Het
Tmem234 T C 4: 129,500,924 (GRCm39) probably null Het
Vmn1r237 C G 17: 21,535,069 (GRCm39) T264S probably benign Het
Vmn2r98 A T 17: 19,286,260 (GRCm39) T253S probably benign Het
Zfyve27 T C 19: 42,171,102 (GRCm39) Y191H probably damaging 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
R4548:Cfap45 UTSW 1 172,372,675 (GRCm39) missense probably benign 0.00
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
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'- CAGCATGTCAGTAGCTATATGCC -3'
(R):5'- GGGGCGGTGTCTCTAAAATC -3'

Sequencing Primer
(F):5'- ATGTCAGTAGCTATATGCCTTGCC -3'
(R):5'- GGGCGGTGTCTCTAAAATCTATACTC -3'
Posted On 2016-12-15