Incidental Mutation 'R9328:Ift80'
ID 706623
Institutional Source Beutler Lab
Gene Symbol Ift80
Ensembl Gene ENSMUSG00000027778
Gene Name intraflagellar transport 80
Synonyms 4921524P20Rik, Wdr56
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.207) question?
Stock # R9328 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 68799832-68911903 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 68847483 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 338 (I338F)
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: I338F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000029347
Gene: ENSMUSG00000027778
AA Change: I338F

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: I338F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000103442
Gene: ENSMUSG00000027778
AA Change: I338F

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: ENSMUST00000169064
AA Change: I338F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000133263
Gene: ENSMUSG00000027778
AA Change: I338F

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600014C10Rik A G 7: 37,894,272 (GRCm39) T102A probably benign Het
1700109H08Rik A G 5: 3,632,161 (GRCm39) K164E possibly damaging Het
2610042L04Rik C T 14: 4,350,013 (GRCm38) Q74* probably null Het
Aadacl4fm4 T A 4: 144,401,256 (GRCm39) H76L probably benign Het
Adgrb2 T A 4: 129,915,363 (GRCm39) M1381K probably damaging Het
Adgrv1 C A 13: 81,620,523 (GRCm39) D3975Y probably damaging Het
Ano10 C T 9: 122,090,168 (GRCm39) E382K possibly damaging Het
Ascc3 T C 10: 50,535,015 (GRCm39) V636A probably damaging Het
AU040320 T C 4: 126,729,332 (GRCm39) V498A possibly damaging Het
Bahcc1 C T 11: 120,165,885 (GRCm39) T1047I possibly damaging Het
BC004004 A T 17: 29,501,682 (GRCm39) T74S possibly damaging Het
Bend3 A G 10: 43,387,419 (GRCm39) D604G possibly damaging Het
Brinp3 T A 1: 146,707,455 (GRCm39) V373E probably damaging Het
Bsph2 A T 7: 13,290,764 (GRCm39) D38E probably benign Het
Castor1 T C 11: 4,170,423 (GRCm39) F140L probably benign Het
Catsperd A G 17: 56,965,074 (GRCm39) I474V possibly damaging Het
Ccdc180 A G 4: 45,902,447 (GRCm39) N292S possibly damaging Het
Cd1d1 A T 3: 86,905,459 (GRCm39) V178E possibly damaging Het
Cdca2 T A 14: 67,931,131 (GRCm39) R521W probably damaging Het
Champ1 A G 8: 13,929,392 (GRCm39) K517E probably damaging Het
Chrna9 T C 5: 66,128,569 (GRCm39) F259S probably damaging Het
Chuk A T 19: 44,085,422 (GRCm39) C241* probably null Het
Clns1a A G 7: 97,363,240 (GRCm39) Y204C probably benign Het
Cplane1 A G 15: 8,215,692 (GRCm39) D416G probably damaging Het
Cyp2j7 A T 4: 96,115,869 (GRCm39) N192K probably damaging Het
Ddr2 A G 1: 169,829,504 (GRCm39) V250A probably benign Het
Dlgap2 A G 8: 14,777,441 (GRCm39) S229G probably damaging Het
Dmrt1 A T 19: 25,523,231 (GRCm39) H194L probably damaging Het
Dock7 A T 4: 98,968,064 (GRCm39) F138I Het
Dsg2 T C 18: 20,715,847 (GRCm39) V263A possibly damaging Het
Dusp16 A G 6: 134,716,902 (GRCm39) L135P probably damaging Het
Dysf A G 6: 84,050,895 (GRCm39) N414S probably damaging Het
Efhc1 A G 1: 21,030,598 (GRCm39) Y177C probably damaging Het
Fam83e A T 7: 45,372,912 (GRCm39) R174S probably benign Het
Fgf4 C T 7: 144,416,664 (GRCm39) L199F probably damaging Het
Fignl2 A G 15: 100,951,271 (GRCm39) L337P unknown Het
Gm4353 T C 7: 115,682,724 (GRCm39) R286G probably damaging Het
Gm5142 T C 14: 59,416,126 (GRCm39) S11G probably benign Het
Gpr151 A G 18: 42,712,270 (GRCm39) V136A probably damaging Het
Itgb4 A G 11: 115,880,625 (GRCm39) S693G probably benign Het
Kif13a T A 13: 46,951,838 (GRCm39) I812F probably damaging Het
Krit1 T C 5: 3,862,577 (GRCm39) probably null Het
Mapk6 T C 9: 75,305,252 (GRCm39) D55G possibly damaging Het
Matn3 A G 12: 9,002,033 (GRCm39) I82V possibly damaging Het
Mecom T A 3: 30,063,994 (GRCm39) D32V unknown Het
Nacad T C 11: 6,552,417 (GRCm39) H258R possibly damaging Het
Ndufaf5 T A 2: 140,030,752 (GRCm39) S213T possibly damaging Het
Nphp1 C T 2: 127,582,892 (GRCm39) D674N possibly damaging Het
Nsmaf A G 4: 6,426,412 (GRCm39) L250P probably damaging Het
Ogdh T C 11: 6,297,838 (GRCm39) S571P probably benign Het
Or1e31 T C 11: 73,690,478 (GRCm39) Y35C probably damaging Het
Or51i2 T A 7: 103,689,268 (GRCm39) D88E Het
Or8g27 T C 9: 39,129,175 (GRCm39) I174T probably damaging Het
Osbpl11 A G 16: 33,047,245 (GRCm39) I403V probably damaging Het
Peg10 CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG CCACATCAGGATCCACATCAGGATGCACATCAG 6: 4,756,398 (GRCm39) probably benign Het
Pira13 T A 7: 3,827,580 (GRCm39) R192S unknown Het
Plat A G 8: 23,268,133 (GRCm39) R300G probably damaging Het
Ppid T C 3: 79,505,059 (GRCm39) I134T probably damaging Het
Rad51ap2 A G 12: 11,507,772 (GRCm39) I565V probably benign Het
Rasa1 T C 13: 85,403,575 (GRCm39) probably null Het
Sema4a C T 3: 88,345,613 (GRCm39) W490* probably null Het
Septin3 A G 15: 82,173,439 (GRCm39) Y257C probably damaging Het
Sh3rf2 C A 18: 42,274,161 (GRCm39) F442L probably benign Het
Sipa1l1 A G 12: 82,388,792 (GRCm39) I339M possibly damaging Het
Six2 T C 17: 85,995,196 (GRCm39) N62S possibly damaging Het
Slc44a5 T C 3: 153,964,678 (GRCm39) I526T probably benign Het
Smarca5 T C 8: 81,447,378 (GRCm39) S402G probably benign Het
Son T A 16: 91,452,645 (GRCm39) V464E possibly damaging Het
Sorcs3 A G 19: 48,785,950 (GRCm39) K1144E probably damaging Het
Stxbp6 A G 12: 44,902,659 (GRCm39) L204P probably damaging Het
Tchh A G 3: 93,351,570 (GRCm39) R337G unknown Het
Tgm4 T C 9: 122,885,697 (GRCm39) V413A possibly damaging Het
Tmem131 G A 1: 36,858,236 (GRCm39) Q704* probably null Het
Tmpo T C 10: 90,998,825 (GRCm39) K321E probably damaging Het
Trim75 G T 8: 65,435,315 (GRCm39) N378K probably benign Het
Tspan18 T A 2: 93,036,065 (GRCm39) I227F probably benign Het
Ttn C T 2: 76,541,526 (GRCm39) W33820* probably null Het
Urb2 T A 8: 124,774,034 (GRCm39) Y1522N probably damaging Het
Zbtb40 T C 4: 136,745,620 (GRCm39) N138D probably benign Het
Zfp715 A T 7: 42,947,328 (GRCm39) H877Q 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
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
Predicted Primers PCR Primer
(F):5'- GGGTCTTCATTTCCTGATTTGAAAC -3'
(R):5'- GGTATCTGGACCTTCTCAGTTG -3'

Sequencing Primer
(F):5'- CATTTCCTGATTTGAAACATGGTG -3'
(R):5'- GCCAAAGTATATCAGTTTATGCCTAG -3'
Posted On 2022-04-18