Incidental Mutation 'R7988:Cfap45'
ID 651568
Institutional Source Beutler Lab
Gene Symbol Cfap45
Ensembl Gene ENSMUSG00000026546
Gene Name cilia and flagella associated protein 45
Synonyms 1700028D05Rik, Nesg1, Ccdc19
MMRRC Submission 046029-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.715) question?
Stock # R7988 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 172348697-172373437 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 172357501 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 85 (D85G)
Ref Sequence ENSEMBL: ENSMUSP00000083057 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085894] [ENSMUST00000159395] [ENSMUST00000159792] [ENSMUST00000161140] [ENSMUST00000162988]
AlphaFold Q9D9U9
Predicted Effect probably damaging
Transcript: ENSMUST00000085894
AA Change: D85G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000083057
Gene: ENSMUSG00000026546
AA Change: D85G

DomainStartEndE-ValueType
low complexity region 8 29 N/A INTRINSIC
Pfam:TPH 187 532 1.5e-85 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000159395
AA Change: D56G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000125224
Gene: ENSMUSG00000026546
AA Change: D56G

DomainStartEndE-ValueType
coiled coil region 128 162 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000159792
AA Change: D56G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000124540
Gene: ENSMUSG00000026546
AA Change: D56G

DomainStartEndE-ValueType
coiled coil region 128 162 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000161140
AA Change: D43G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000162988
AA Change: D56G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Meta Mutation Damage Score 0.7480 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (59/59)
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610030E20Rik C T 6: 72,324,635 (GRCm39) T56M probably damaging Het
Adamtsl5 C T 10: 80,181,372 (GRCm39) S36N probably benign Het
Adgrf5 A T 17: 43,750,704 (GRCm39) probably benign Het
Ago1 A G 4: 126,354,210 (GRCm39) F200S probably damaging Het
Akr1cl T C 1: 65,063,865 (GRCm39) D108G possibly damaging Het
Aopep A G 13: 63,208,954 (GRCm39) D357G probably benign Het
Arhgef3 A T 14: 27,123,743 (GRCm39) D468V probably benign Het
Aspn T C 13: 49,705,353 (GRCm39) C72R possibly damaging Het
Baz2b T C 2: 59,792,485 (GRCm39) T548A possibly damaging Het
Birc6 G A 17: 74,906,368 (GRCm39) probably null Het
Btnl2 A T 17: 34,577,249 (GRCm39) T135S possibly damaging Het
Ccnl1 T A 3: 65,865,282 (GRCm39) I90F possibly damaging Het
Ccnt1 T C 15: 98,463,024 (GRCm39) probably null Het
Cemip C A 7: 83,652,616 (GRCm39) probably benign Het
Cfap54 T A 10: 92,737,941 (GRCm39) D2319V unknown Het
Cma1 T C 14: 56,181,989 (GRCm39) M14V possibly damaging Het
Cmtm1 T C 8: 105,036,774 (GRCm39) probably benign Het
Col27a1 A G 4: 63,249,559 (GRCm39) H1738R unknown Het
Colq T A 14: 31,275,794 (GRCm39) D41V probably damaging Het
Cubn T C 2: 13,337,166 (GRCm39) T2437A probably benign Het
Dnah14 A G 1: 181,611,139 (GRCm39) D3755G probably damaging Het
Eprs1 A G 1: 185,150,545 (GRCm39) Y1349C probably damaging Het
Eps8 C T 6: 137,505,569 (GRCm39) R53Q possibly damaging Het
Fbf1 T C 11: 116,043,594 (GRCm39) D405G probably benign Het
Fen1 C T 19: 10,177,674 (GRCm39) E257K possibly damaging Het
Gstm7 A T 3: 107,834,271 (GRCm39) M198K possibly damaging Het
Hook3 A T 8: 26,563,675 (GRCm39) S190T probably benign Het
Htra4 A C 8: 25,520,526 (GRCm39) probably null Het
Ighv1-15 T C 12: 114,621,116 (GRCm39) I70V probably benign Het
Ikzf4 T A 10: 128,470,324 (GRCm39) N452Y probably damaging Het
Insyn2a T G 7: 134,519,427 (GRCm39) K368Q probably damaging Het
Iqcf5 T A 9: 106,393,020 (GRCm39) N92K possibly damaging Het
Itk A G 11: 46,246,661 (GRCm39) Y186H probably damaging Het
Klhdc10 T C 6: 30,446,690 (GRCm39) S282P probably benign Het
Klhl18 T A 9: 110,305,577 (GRCm39) E29V possibly damaging Het
Ky T C 9: 102,402,614 (GRCm39) S140P probably damaging Het
Lmntd2 T C 7: 140,793,550 (GRCm39) E112G unknown Het
Lrrc36 C A 8: 106,178,718 (GRCm39) D304E possibly damaging Het
Macf1 A T 4: 123,400,273 (GRCm39) F674Y probably damaging Het
Notch1 C T 2: 26,361,013 (GRCm39) D1111N probably benign Het
Osbpl8 T G 10: 111,107,941 (GRCm39) N312K possibly damaging Het
Otogl C T 10: 107,731,637 (GRCm39) C168Y probably damaging Het
Phldb2 T G 16: 45,645,934 (GRCm39) T171P probably benign Het
Ppef2 A T 5: 92,386,841 (GRCm39) F365L probably benign Het
Repin1 G T 6: 48,574,279 (GRCm39) E403* probably null Het
Ryr1 G A 7: 28,795,596 (GRCm39) T1105I probably benign Het
Sclt1 T A 3: 41,617,889 (GRCm39) *29L probably null Het
Scn11a T C 9: 119,594,503 (GRCm39) K1297E probably damaging Het
Serpinb9c T A 13: 33,334,262 (GRCm39) Y288F probably benign Het
Setd1a T A 7: 127,385,366 (GRCm39) M691K probably benign Het
Sftpc T C 14: 70,760,059 (GRCm39) E66G probably damaging Het
Spata31h1 T C 10: 82,131,934 (GRCm39) I359V probably benign Het
Thnsl2 T C 6: 71,118,303 (GRCm39) T42A probably benign Het
Tram1 T C 1: 13,640,199 (GRCm39) D285G probably benign Het
Ttn G A 2: 76,675,374 (GRCm39) P11137L unknown Het
Ttn C A 2: 76,727,103 (GRCm39) V5821F unknown Het
Ttn A T 2: 76,566,584 (GRCm39) I28103K probably damaging Het
Usp38 T A 8: 81,740,945 (GRCm39) M41L probably benign Het
Zcwpw1 T G 5: 137,815,753 (GRCm39) Y419D possibly damaging Het
Zfp407 G A 18: 84,577,525 (GRCm39) A1196V possibly damaging Het
Zfp446 T A 7: 12,712,970 (GRCm39) S103T possibly 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
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
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'- GGAAGCCTCAAGGTCCGTATTG -3'
(R):5'- ACGAAATCCAGTTTTGTGTACG -3'

Sequencing Primer
(F):5'- CCTCAAGGTCCGTATTGGGTCAG -3'
(R):5'- ATCCAGTTTTGTGTACGTTAAGC -3'
Posted On 2020-09-15