Incidental Mutation 'R4652:Ift80'
ID 351363
Institutional Source Beutler Lab
Gene Symbol Ift80
Ensembl Gene ENSMUSG00000027778
Gene Name intraflagellar transport 80
Synonyms 4921524P20Rik, Wdr56
MMRRC Submission 041912-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.207) question?
Stock # R4652 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 68799832-68911903 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 68822273 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 627 (N627I)
Ref Sequence ENSEMBL: ENSMUSP00000133263 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029347] [ENSMUST00000107812] [ENSMUST00000169064]
AlphaFold Q8K057
Predicted Effect probably benign
Transcript: ENSMUST00000029347
AA Change: N627I

PolyPhen 2 Score 0.322 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000029347
Gene: ENSMUSG00000027778
AA Change: N627I

DomainStartEndE-ValueType
WD40 4 41 1.43e0 SMART
Blast:WD40 46 93 4e-9 BLAST
WD40 95 134 9.38e-5 SMART
WD40 136 176 2.75e1 SMART
WD40 177 216 1.42e-4 SMART
WD40 219 256 1.56e-1 SMART
WD40 258 297 2.75e1 SMART
low complexity region 429 440 N/A INTRINSIC
Blast:WD40 496 533 4e-18 BLAST
low complexity region 764 772 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107812
AA Change: N627I

PolyPhen 2 Score 0.322 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000103442
Gene: ENSMUSG00000027778
AA Change: N627I

DomainStartEndE-ValueType
WD40 4 41 1.43e0 SMART
Blast:WD40 46 93 4e-9 BLAST
WD40 95 134 9.38e-5 SMART
WD40 136 176 2.75e1 SMART
WD40 177 216 1.42e-4 SMART
WD40 219 256 1.56e-1 SMART
WD40 258 297 2.75e1 SMART
low complexity region 429 440 N/A INTRINSIC
Blast:WD40 496 533 4e-18 BLAST
low complexity region 764 772 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136176
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136448
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152502
Predicted Effect probably benign
Transcript: ENSMUST00000169064
AA Change: N627I

PolyPhen 2 Score 0.322 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000133263
Gene: ENSMUSG00000027778
AA Change: N627I

DomainStartEndE-ValueType
WD40 4 41 1.43e0 SMART
Blast:WD40 46 93 4e-9 BLAST
WD40 95 134 9.38e-5 SMART
WD40 136 176 2.75e1 SMART
WD40 177 216 1.42e-4 SMART
WD40 219 256 1.56e-1 SMART
WD40 258 297 2.75e1 SMART
low complexity region 429 440 N/A INTRINSIC
Blast:WD40 496 533 4e-18 BLAST
low complexity region 764 772 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176189
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217619
Meta Mutation Damage Score 0.1154 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 95% (111/117)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is part of the intraflagellar transport complex B and is necessary for the function of motile and sensory cilia. Defects in this gene are a cause of asphyxiating thoracic dystrophy 2 (ATD2). Three transcript variants encoding two different isoforms have been found for this gene.[provided by RefSeq, Jun 2010]
PHENOTYPE: Mice homozygous for a hypomorphic gene trap allele exhibit partial perinatal lethality, decreased body size, postnatal growth retardation, shortened long bones, constricted thoracic cage, periaxial polydactyly, and small cranium. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 105 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022B05Rik T A 8: 125,366,350 (GRCm39) Q131L probably damaging Het
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
4933409G03Rik G A 2: 68,436,559 (GRCm39) E168K unknown Het
A830018L16Rik C A 1: 11,607,566 (GRCm39) probably benign Het
Adam26b A G 8: 43,974,375 (GRCm39) V209A possibly damaging Het
Adh6a T A 3: 138,031,876 (GRCm39) M256K probably benign Het
Ahnak2 T G 12: 112,741,271 (GRCm39) S128R possibly damaging Het
Angptl2 G T 2: 33,133,895 (GRCm39) D406Y probably damaging Het
Ano10 A T 9: 122,090,181 (GRCm39) Y377* probably null Het
Arfgef1 C T 1: 10,243,487 (GRCm39) D1021N probably damaging Het
Arhgap17 G A 7: 122,885,841 (GRCm39) probably benign Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Atp10b G A 11: 43,085,472 (GRCm39) G284S probably damaging Het
Atp13a4 A T 16: 29,271,421 (GRCm39) D498E probably damaging Het
C4a T A 17: 35,029,108 (GRCm39) noncoding transcript Het
Cacna1d C T 14: 29,817,365 (GRCm39) M1232I probably benign Het
Camsap3 A C 8: 3,650,689 (GRCm39) K223T possibly damaging Het
Cast A G 13: 74,894,133 (GRCm39) S171P probably benign Het
Cdh8 T A 8: 99,751,491 (GRCm39) D742V probably benign Het
Ceacam12 A G 7: 17,801,359 (GRCm39) T113A probably damaging Het
Cers3 G A 7: 66,431,604 (GRCm39) probably null Het
Cipc T C 12: 87,008,864 (GRCm39) V241A probably benign Het
Cntn5 C A 9: 9,704,917 (GRCm39) K832N possibly damaging Het
Col12a1 A T 9: 79,520,228 (GRCm39) D2815E probably damaging Het
Ctf2 T C 7: 127,318,556 (GRCm39) T148A probably benign Het
Cttnbp2 A G 6: 18,434,037 (GRCm39) I607T possibly damaging Het
Cux1 A T 5: 136,596,083 (GRCm39) N4K probably damaging Het
Dhx36 A T 3: 62,408,419 (GRCm39) L140M probably benign Het
Dhx58 T A 11: 100,592,185 (GRCm39) N288Y probably damaging Het
Dlgap1 T A 17: 71,068,090 (GRCm39) Y554N probably damaging Het
Dnah10 T C 5: 124,806,207 (GRCm39) Y127H probably benign Het
Dnah6 T C 6: 73,047,580 (GRCm39) M3140V probably benign Het
Dnd1 G A 18: 36,898,114 (GRCm39) probably benign Het
Dpy19l1 A C 9: 24,393,350 (GRCm39) S140A possibly damaging Het
Dyrk1a C T 16: 94,492,924 (GRCm39) T719I probably benign Het
Erlin1 T A 19: 44,029,231 (GRCm39) K234* probably null Het
Fndc7 T C 3: 108,770,135 (GRCm39) N597S probably benign Het
Folh1 C A 7: 86,393,633 (GRCm39) G360* probably null Het
Frmd4b T C 6: 97,272,716 (GRCm39) H846R probably benign Het
Gm10375 C A 14: 43,844,326 (GRCm39) probably null Het
Gm27047 T C 6: 130,607,479 (GRCm39) noncoding transcript Het
Gm7168 A G 17: 14,170,069 (GRCm39) R479G possibly damaging Het
Gm9996 T A 10: 29,019,754 (GRCm39) probably benign Het
Gnat3 T A 5: 18,220,568 (GRCm39) L247H probably damaging Het
H2-D1 T G 17: 35,485,492 (GRCm39) probably null Het
Hpf1 T G 8: 61,346,764 (GRCm39) S26R possibly damaging Het
Inpp5d A G 1: 87,593,173 (GRCm39) K91R probably benign Het
Irgc C A 7: 24,132,238 (GRCm39) R193L probably damaging Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Lamc1 T G 1: 153,104,523 (GRCm39) S59R probably damaging Het
Lrrc9 T C 12: 72,524,160 (GRCm39) W790R probably damaging Het
Man1a2 A G 3: 100,539,877 (GRCm39) L188P probably damaging Het
Med8 A T 4: 118,268,089 (GRCm39) E5V probably damaging Het
Mefv A G 16: 3,535,682 (GRCm39) L82P probably damaging Het
Mettl25 A T 10: 105,615,509 (GRCm39) C498* probably null Het
Mettl3 T A 14: 52,532,549 (GRCm39) I545F probably damaging Het
Mvp T A 7: 126,592,721 (GRCm39) I397F probably damaging Het
Nlrp14 A T 7: 106,781,024 (GRCm39) I74F probably benign Het
Nudt5 G A 2: 5,860,876 (GRCm39) probably benign Het
Nyap2 T A 1: 81,314,444 (GRCm39) D713E probably damaging Het
Obscn G A 11: 58,929,703 (GRCm39) R5824C probably damaging Het
Or4f6 G T 2: 111,838,595 (GRCm39) S312Y probably damaging Het
Or6c214 T C 10: 129,591,287 (GRCm39) I11V probably benign Het
Orc4 A T 2: 48,826,762 (GRCm39) probably benign Het
Pde10a T A 17: 8,975,885 (GRCm39) N3K possibly damaging Het
Pgm3 T A 9: 86,440,523 (GRCm39) R389S probably benign Het
Piwil4 G A 9: 14,623,604 (GRCm39) R529* probably null Het
Pkd2l2 A T 18: 34,542,889 (GRCm39) R20* probably null Het
Ppp4r3a T A 12: 101,049,170 (GRCm39) probably benign Het
Prkcq T C 2: 11,284,333 (GRCm39) V501A possibly damaging Het
Prkg1 T C 19: 30,572,412 (GRCm39) T400A probably damaging Het
Prps2 T C X: 166,135,288 (GRCm39) D183G probably damaging Het
Prrc2c A T 1: 162,550,843 (GRCm39) H40Q probably damaging Het
Ptcd1 A T 5: 145,091,985 (GRCm39) H371Q probably benign Het
Ptprk T C 10: 28,139,686 (GRCm39) I137T probably damaging Het
R3hdm1 T C 1: 128,112,181 (GRCm39) S422P probably damaging Het
Rapgef5 G A 12: 117,677,863 (GRCm39) G366E probably damaging Het
Rsf1 GCGGCGGCG GCGGCGGCGTCGGCGGCG 7: 97,229,126 (GRCm39) probably benign Het
Setd2 A G 9: 110,423,200 (GRCm39) D2085G possibly damaging Het
Sfxn3 A G 19: 45,039,313 (GRCm39) probably null Het
Sgce T C 6: 4,689,560 (GRCm39) probably benign Het
Sipa1l1 T A 12: 82,469,245 (GRCm39) L1248* probably null Het
Skint7 T G 4: 111,839,309 (GRCm39) M201R probably damaging Het
Slc18a1 A G 8: 69,496,583 (GRCm39) M360T possibly damaging Het
Srp68 A T 11: 116,164,840 (GRCm39) S31R probably benign Het
Stag1 T A 9: 100,678,769 (GRCm39) M230K probably damaging Het
Strc A T 2: 121,204,829 (GRCm39) D985E possibly damaging Het
Tars3 T A 7: 65,339,717 (GRCm39) V704E probably damaging Het
Tbc1d2b A G 9: 90,089,940 (GRCm39) F863S probably damaging Het
Tek T C 4: 94,669,121 (GRCm39) S41P probably damaging Het
Top1 T C 2: 160,554,637 (GRCm39) Y463H probably damaging Het
Trim24 T G 6: 37,934,774 (GRCm39) probably null Het
Ttn A G 2: 76,576,979 (GRCm39) V24638A possibly damaging Het
Ttn A G 2: 76,701,213 (GRCm39) probably benign Het
Txndc11 A G 16: 10,892,986 (GRCm39) S915P probably benign Het
Tyro3 G C 2: 119,647,349 (GRCm39) G826A probably benign Het
Ubxn4 T A 1: 128,202,587 (GRCm39) W410R probably benign Het
Vmn1r193 C T 13: 22,403,695 (GRCm39) G99D probably damaging Het
Vmn2r109 T A 17: 20,761,656 (GRCm39) K567M probably damaging Het
Vmn2r23 T C 6: 123,718,689 (GRCm39) F681L probably damaging Het
Vrk2 T C 11: 26,439,803 (GRCm39) D256G probably damaging Het
Vwa3a T A 7: 120,378,138 (GRCm39) I476N probably damaging Het
Wdr81 A G 11: 75,342,066 (GRCm39) V1067A probably damaging Het
Zcwpw2 A G 9: 117,843,119 (GRCm39) noncoding transcript Het
Other mutations in Ift80
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00766:Ift80 APN 3 68,821,986 (GRCm39) nonsense probably null
IGL01020:Ift80 APN 3 68,871,012 (GRCm39) missense probably damaging 1.00
IGL01544:Ift80 APN 3 68,898,115 (GRCm39) missense probably benign 0.05
IGL01612:Ift80 APN 3 68,870,996 (GRCm39) missense possibly damaging 0.61
IGL01743:Ift80 APN 3 68,869,629 (GRCm39) missense probably benign 0.00
IGL02187:Ift80 APN 3 68,892,789 (GRCm39) missense probably damaging 1.00
IGL02381:Ift80 APN 3 68,869,653 (GRCm39) splice site probably null
IGL02407:Ift80 APN 3 68,805,869 (GRCm39) missense probably benign
IGL02510:Ift80 APN 3 68,805,876 (GRCm39) missense probably benign 0.07
IGL02512:Ift80 APN 3 68,835,058 (GRCm39) critical splice donor site probably null
R0091:Ift80 UTSW 3 68,822,008 (GRCm39) missense probably damaging 1.00
R0212:Ift80 UTSW 3 68,847,506 (GRCm39) missense probably benign 0.05
R0348:Ift80 UTSW 3 68,843,232 (GRCm39) missense probably benign
R0357:Ift80 UTSW 3 68,821,986 (GRCm39) nonsense probably null
R1381:Ift80 UTSW 3 68,822,116 (GRCm39) missense possibly damaging 0.78
R1419:Ift80 UTSW 3 68,847,531 (GRCm39) missense probably damaging 1.00
R1643:Ift80 UTSW 3 68,823,490 (GRCm39) missense probably benign 0.06
R1899:Ift80 UTSW 3 68,825,846 (GRCm39) missense probably benign 0.00
R1926:Ift80 UTSW 3 68,823,498 (GRCm39) missense probably damaging 1.00
R2013:Ift80 UTSW 3 68,898,117 (GRCm39) missense possibly damaging 0.62
R3894:Ift80 UTSW 3 68,825,332 (GRCm39) missense probably damaging 1.00
R4214:Ift80 UTSW 3 68,898,141 (GRCm39) missense possibly damaging 0.64
R4290:Ift80 UTSW 3 68,871,023 (GRCm39) missense probably damaging 0.96
R4303:Ift80 UTSW 3 68,801,507 (GRCm39) missense probably benign 0.15
R4361:Ift80 UTSW 3 68,870,982 (GRCm39) missense probably damaging 1.00
R4576:Ift80 UTSW 3 68,857,863 (GRCm39) missense possibly damaging 0.71
R4596:Ift80 UTSW 3 68,898,092 (GRCm39) missense probably benign 0.01
R4654:Ift80 UTSW 3 68,825,870 (GRCm39) missense possibly damaging 0.94
R4720:Ift80 UTSW 3 68,869,623 (GRCm39) missense possibly damaging 0.50
R4865:Ift80 UTSW 3 68,898,092 (GRCm39) missense probably benign 0.01
R4885:Ift80 UTSW 3 68,857,829 (GRCm39) missense probably damaging 0.98
R5357:Ift80 UTSW 3 68,898,113 (GRCm39) missense possibly damaging 0.62
R5561:Ift80 UTSW 3 68,875,196 (GRCm39) missense probably benign 0.00
R5589:Ift80 UTSW 3 68,838,233 (GRCm39) missense probably damaging 1.00
R5806:Ift80 UTSW 3 68,857,809 (GRCm39) missense probably benign 0.09
R6910:Ift80 UTSW 3 68,835,068 (GRCm39) missense probably benign 0.01
R6962:Ift80 UTSW 3 68,901,878 (GRCm39) start gained probably benign
R7157:Ift80 UTSW 3 68,898,277 (GRCm39) nonsense probably null
R7452:Ift80 UTSW 3 68,901,615 (GRCm39) splice site probably null
R7504:Ift80 UTSW 3 68,825,338 (GRCm39) missense probably damaging 0.99
R8077:Ift80 UTSW 3 68,823,478 (GRCm39) missense probably benign 0.01
R8435:Ift80 UTSW 3 68,892,787 (GRCm39) missense probably damaging 1.00
R8821:Ift80 UTSW 3 68,869,583 (GRCm39) missense probably damaging 0.98
R8831:Ift80 UTSW 3 68,869,583 (GRCm39) missense probably damaging 0.98
R8897:Ift80 UTSW 3 68,857,809 (GRCm39) missense probably benign
R9222:Ift80 UTSW 3 68,825,894 (GRCm39) missense possibly damaging 0.58
R9328:Ift80 UTSW 3 68,847,483 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCACTAAACATGAGTATGTGGGCC -3'
(R):5'- TCACCAGTAGAATTTAAACCACTGC -3'

Sequencing Primer
(F):5'- GCCATTTTTGACTCTCTAGATGGAAG -3'
(R):5'- TCTGAAATGTGACCCCCT -3'
Posted On 2015-10-08