Incidental Mutation 'R1926:Ift80'
ID 213419
Institutional Source Beutler Lab
Gene Symbol Ift80
Ensembl Gene ENSMUSG00000027778
Gene Name intraflagellar transport 80
Synonyms 4921524P20Rik, Wdr56
MMRRC Submission 039944-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.207) question?
Stock # R1926 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 68799832-68911903 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 68823498 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 588 (Y588C)
Ref Sequence ENSEMBL: ENSMUSP00000133263 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029347] [ENSMUST00000107812] [ENSMUST00000169064]
AlphaFold Q8K057
Predicted Effect probably damaging
Transcript: ENSMUST00000029347
AA Change: Y588C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029347
Gene: ENSMUSG00000027778
AA Change: Y588C

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 damaging
Transcript: ENSMUST00000107812
AA Change: Y588C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103442
Gene: ENSMUSG00000027778
AA Change: Y588C

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 damaging
Transcript: ENSMUST00000169064
AA Change: Y588C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133263
Gene: ENSMUSG00000027778
AA Change: Y588C

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
Coding Region Coverage
  • 1x: 97.3%
  • 3x: 96.7%
  • 10x: 95.0%
  • 20x: 91.6%
Validation Efficiency
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm3 C T 7: 119,376,359 (GRCm39) T362M probably damaging Het
Ang6 A G 14: 44,239,695 (GRCm39) V11A possibly damaging Het
Ankrd17 A G 5: 90,392,028 (GRCm39) Y1880H probably damaging Het
Bmi1 A G 2: 18,687,084 (GRCm39) I55V probably benign Het
Bnipl G A 3: 95,150,354 (GRCm39) T297M probably damaging Het
Bpifa2 T C 2: 153,855,669 (GRCm39) V198A probably benign Het
Brms1l G T 12: 55,909,946 (GRCm39) V239F possibly damaging Het
Ccdc158 A G 5: 92,798,647 (GRCm39) V351A probably benign Het
Ces1c A G 8: 93,854,232 (GRCm39) F101S possibly damaging Het
Cpb2 T C 14: 75,479,837 (GRCm39) Y15H probably benign Het
Dglucy A T 12: 100,833,414 (GRCm39) N535I possibly damaging Het
Dop1a C A 9: 86,405,072 (GRCm39) H1763Q probably damaging Het
Dpy19l1 C T 9: 24,385,120 (GRCm39) M236I probably benign Het
Efna2 T C 10: 80,022,710 (GRCm39) Y85H probably damaging Het
Eipr1 A T 12: 28,914,836 (GRCm39) probably null Het
Eln A T 5: 134,735,421 (GRCm39) Y787* probably null Het
Erbb2 G C 11: 98,315,990 (GRCm39) E364D probably benign Het
F5 A G 1: 164,007,077 (GRCm39) T294A probably damaging Het
Fam47e A G 5: 92,733,244 (GRCm39) T194A possibly damaging Het
Galk1 T C 11: 115,901,073 (GRCm39) D202G probably damaging Het
Glb1l2 T C 9: 26,682,362 (GRCm39) D163G probably damaging Het
Gmip A G 8: 70,268,170 (GRCm39) E408G probably benign Het
Gp1ba A T 11: 70,531,715 (GRCm39) probably benign Het
Grm3 A T 5: 9,554,881 (GRCm39) C804S probably damaging Het
Gzmd A G 14: 56,367,737 (GRCm39) C179R probably damaging Het
Hadhb T A 5: 30,385,935 (GRCm39) L415Q possibly damaging Het
Jazf1 T C 6: 53,045,516 (GRCm39) T13A probably benign Het
Kat8 T A 7: 127,514,467 (GRCm39) Y67* probably null Het
Kcnab1 G A 3: 65,283,933 (GRCm39) E384K possibly damaging Het
Lhx3 A T 2: 26,092,200 (GRCm39) Y230* probably null Het
Lmx1b T A 2: 33,454,674 (GRCm39) M365L probably damaging Het
Ly6k G T 15: 74,669,051 (GRCm39) P76Q probably benign Het
Lypd10 G A 7: 24,413,541 (GRCm39) G186R probably damaging Het
Map1b A T 13: 99,567,200 (GRCm39) H1840Q unknown Het
Map3k2 A G 18: 32,336,163 (GRCm39) I117V probably damaging Het
Med13 C A 11: 86,179,899 (GRCm39) A1350S possibly damaging Het
Midn T C 10: 79,987,495 (GRCm39) S109P probably damaging Het
Msh6 A G 17: 88,293,653 (GRCm39) T803A probably benign Het
Nckap1 T C 2: 80,337,182 (GRCm39) Y1018C probably damaging Het
Ndufc1 A T 3: 51,314,816 (GRCm39) N63K probably benign Het
Neb A T 2: 52,169,647 (GRCm39) S1811R probably damaging Het
Notch1 T C 2: 26,371,669 (GRCm39) D260G probably damaging Het
Ntn4 C T 10: 93,543,215 (GRCm39) R314W probably damaging Het
Oas1g T C 5: 121,017,205 (GRCm39) K283R probably benign Het
Obscn T C 11: 58,954,300 (GRCm39) T4037A Het
Or6b1 T G 6: 42,815,247 (GRCm39) L144R probably damaging Het
Or6b3 A G 1: 92,439,330 (GRCm39) L140P probably damaging Het
Otop2 A T 11: 115,217,781 (GRCm39) T206S probably benign Het
Pamr1 A G 2: 102,471,342 (GRCm39) probably null Het
Pkp1 G A 1: 135,805,411 (GRCm39) T675I probably benign Het
Plxna2 G A 1: 194,444,758 (GRCm39) V717I probably benign Het
Ptgs2 T C 1: 149,975,979 (GRCm39) L2P possibly damaging Het
Rarg A G 15: 102,147,980 (GRCm39) F277S probably damaging Het
Rassf5 A T 1: 131,140,076 (GRCm39) I161N probably damaging Het
Resf1 C T 6: 149,230,902 (GRCm39) T1316I probably benign Het
Rxfp4 A G 3: 88,559,659 (GRCm39) V264A probably benign Het
Secisbp2l T A 2: 125,582,597 (GRCm39) Q953L probably damaging Het
Serpinb9c T C 13: 33,334,218 (GRCm39) I275V probably benign Het
Slc2a12 T C 10: 22,541,141 (GRCm39) V332A probably damaging Het
Slc7a1 T C 5: 148,285,113 (GRCm39) S127G probably damaging Het
Slc7a4 A T 16: 17,393,568 (GRCm39) V77E probably damaging Het
Sp8 G A 12: 118,812,964 (GRCm39) S273N possibly damaging Het
Spag6l G T 16: 16,580,921 (GRCm39) N475K probably benign Het
St18 A G 1: 6,872,913 (GRCm39) H216R probably benign Het
Tcirg1 C T 19: 3,952,843 (GRCm39) probably benign Het
Tmeff1 A G 4: 48,658,788 (GRCm39) Y87C probably damaging Het
Tmem94 T C 11: 115,683,726 (GRCm39) V713A possibly damaging Het
Tnrc6b G T 15: 80,765,363 (GRCm39) R955L probably damaging Het
Trip12 A G 1: 84,727,012 (GRCm39) V1153A probably damaging Het
Tshz3 T C 7: 36,468,800 (GRCm39) L263S probably damaging Het
Tubb6 G A 18: 67,534,391 (GRCm39) probably null Het
Ube3a T C 7: 58,926,127 (GRCm39) W302R probably damaging Het
Vcpkmt A T 12: 69,629,519 (GRCm39) V81E probably damaging Het
Vmn1r175 T A 7: 23,508,466 (GRCm39) I54F possibly damaging Het
Vwa8 T A 14: 79,258,075 (GRCm39) N741K probably benign Het
Yeats2 A G 16: 20,033,176 (GRCm39) T1034A probably benign Het
Zc3h6 G A 2: 128,839,715 (GRCm39) R176Q probably damaging Het
Zfp207 T A 11: 80,286,253 (GRCm39) Y424* probably null Het
Zfp729a A G 13: 67,767,676 (GRCm39) V851A probably benign Het
Zkscan1 G T 5: 138,099,625 (GRCm39) A450S probably benign Het
Zkscan3 A G 13: 21,580,616 (GRCm39) V24A possibly damaging 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
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
R4652:Ift80 UTSW 3 68,822,273 (GRCm39) missense probably benign 0.32
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'- AAGGTCCTGCTCACAATCGTC -3'
(R):5'- TCAGATGCCTGTAGGGGAAC -3'

Sequencing Primer
(F):5'- ACAATCGTCTTAACCCTTACGTGG -3'
(R):5'- AGTGTAGTTTGCTTCAAGTGTACATC -3'
Posted On 2014-07-14