Incidental Mutation 'IGL01544:Ift80'
ID 90264
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ift80
Ensembl Gene ENSMUSG00000027778
Gene Name intraflagellar transport 80
Synonyms 4921524P20Rik, Wdr56
Accession Numbers
Essential gene? Probably non essential (E-score: 0.207) question?
Stock # IGL01544
Quality Score
Status
Chromosome 3
Chromosomal Location 68799832-68911903 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 68898115 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 73 (K73N)
Ref Sequence ENSEMBL: ENSMUSP00000133263 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029347] [ENSMUST00000107812] [ENSMUST00000148031] [ENSMUST00000154741] [ENSMUST00000169064]
AlphaFold Q8K057
Predicted Effect probably benign
Transcript: ENSMUST00000029347
AA Change: K73N

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000029347
Gene: ENSMUSG00000027778
AA Change: K73N

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: K73N

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000103442
Gene: ENSMUSG00000027778
AA Change: K73N

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: ENSMUST00000136448
Predicted Effect probably benign
Transcript: ENSMUST00000148031
AA Change: K73N

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000122919
Gene: ENSMUSG00000027778
AA Change: K73N

DomainStartEndE-ValueType
WD40 4 41 1.43e0 SMART
Blast:WD40 46 93 3e-10 BLAST
WD40 95 134 9.38e-5 SMART
Blast:WD40 136 159 1e-8 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152502
Predicted Effect probably benign
Transcript: ENSMUST00000154741
AA Change: K73N

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000118406
Gene: ENSMUSG00000027778
AA Change: K73N

DomainStartEndE-ValueType
WD40 4 41 1.43e0 SMART
Blast:WD40 46 93 9e-10 BLAST
WD40 95 134 9.38e-5 SMART
WD40 136 176 2.75e1 SMART
WD40 177 209 2.12e2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000169064
AA Change: K73N

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000133263
Gene: ENSMUSG00000027778
AA Change: K73N

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: ENSMUST00000176135
Coding Region Coverage
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arap3 G A 18: 38,123,889 (GRCm39) R377C probably damaging Het
Bbx C A 16: 50,095,140 (GRCm39) E59* probably null Het
Cep120 C T 18: 53,819,033 (GRCm39) R886H probably benign Het
Cep350 C A 1: 155,828,933 (GRCm39) V324L probably damaging Het
Cry1 T A 10: 84,982,360 (GRCm39) K329* probably null Het
Dhtkd1 T C 2: 5,918,342 (GRCm39) N627S probably benign Het
Dpp8 A T 9: 64,962,270 (GRCm39) T437S probably benign Het
Elovl1 G A 4: 118,288,107 (GRCm39) probably null Het
Heca A G 10: 17,791,715 (GRCm39) Y114H probably damaging Het
Hrh4 A G 18: 13,148,950 (GRCm39) N104S probably benign Het
Ina T C 19: 47,003,948 (GRCm39) V252A possibly damaging Het
Klhl36 A G 8: 120,596,755 (GRCm39) E152G possibly damaging Het
Lamp5 T A 2: 135,910,990 (GRCm39) L241Q probably damaging Het
Lrp4 G A 2: 91,307,896 (GRCm39) R447H probably damaging Het
Mmp24 G A 2: 155,641,807 (GRCm39) G212R probably damaging Het
Mpp3 A G 11: 101,909,485 (GRCm39) V191A possibly damaging Het
Mtmr4 A G 11: 87,488,437 (GRCm39) probably benign Het
Mynn C A 3: 30,661,854 (GRCm39) S312* probably null Het
Neb T A 2: 52,182,917 (GRCm39) I1010F possibly damaging Het
Nes T C 3: 87,885,271 (GRCm39) S1177P possibly damaging Het
Noct T C 3: 51,155,469 (GRCm39) V79A probably damaging Het
Rad1 A G 15: 10,490,465 (GRCm39) D114G probably damaging Het
Slc26a9 T C 1: 131,687,233 (GRCm39) probably null Het
Sqor G A 2: 122,634,266 (GRCm39) probably benign Het
Sspo G T 6: 48,467,953 (GRCm39) W4309L probably damaging Het
Thoc7 A C 14: 13,953,435 (GRCm38) Y72D probably damaging Het
Thra A G 11: 98,647,754 (GRCm39) I43V possibly damaging Het
Timm44 G T 8: 4,325,888 (GRCm39) probably benign Het
Trmo C T 4: 46,386,169 (GRCm39) G119R probably damaging Het
Trpc4 T C 3: 54,209,567 (GRCm39) M644T probably damaging Het
Wdr72 C T 9: 74,056,007 (GRCm39) L300F probably damaging Het
Wrn T C 8: 33,814,554 (GRCm39) T54A probably benign 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
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
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
Posted On 2013-12-03