Incidental Mutation 'R1930:Ift20'
ID 215294
Institutional Source Beutler Lab
Gene Symbol Ift20
Ensembl Gene ENSMUSG00000001105
Gene Name intraflagellar transport 20
Synonyms 0610009H04Rik
MMRRC Submission 039948-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1930 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 78427187-78432558 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 78430830 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 58 (V58I)
Ref Sequence ENSEMBL: ENSMUSP00000118015 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017759] [ENSMUST00000050366] [ENSMUST00000103242] [ENSMUST00000108275] [ENSMUST00000108277] [ENSMUST00000128788]
AlphaFold Q61025
Predicted Effect probably benign
Transcript: ENSMUST00000017759
SMART Domains Protein: ENSMUSP00000017759
Gene: ENSMUSG00000017615

DomainStartEndE-ValueType
BTB 28 128 4.8e-18 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000050366
AA Change: V58I

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000051699
Gene: ENSMUSG00000001105
AA Change: V58I

DomainStartEndE-ValueType
Pfam:IFT20 9 111 1.6e-45 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000103242
SMART Domains Protein: ENSMUSP00000099532
Gene: ENSMUSG00000037278

DomainStartEndE-ValueType
Pfam:DUF2781 11 164 1.4e-51 PFAM
low complexity region 166 176 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000108275
AA Change: V58I

PolyPhen 2 Score 0.552 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000103910
Gene: ENSMUSG00000001105
AA Change: V58I

DomainStartEndE-ValueType
Pfam:IFT20 10 128 9.2e-54 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108277
SMART Domains Protein: ENSMUSP00000103912
Gene: ENSMUSG00000017615

DomainStartEndE-ValueType
BTB 28 128 4.8e-18 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000128788
AA Change: V58I

PolyPhen 2 Score 0.552 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000118015
Gene: ENSMUSG00000001105
AA Change: V58I

DomainStartEndE-ValueType
Pfam:IFT20 9 128 1.2e-52 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137120
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152016
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 97.0%
  • 10x: 95.6%
  • 20x: 93.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a intraflagellar transport protein important for intracellular transport. The encoded protein forms part of a complex involved in trafficking of proteins from the Golgi body, including recycling of immune signalling components (Finetti et al., PubMed: 19855387). This gene is part of a complex set of sense-antisense loci that may be co-regulated. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. A pseudogene of this gene is located on the long arm of chromosome 14.[provided by RefSeq, Jun 2012]
PHENOTYPE: Mice homozygous for a null mutation die before birth. Mice with conditional loss in renal collecting ducts lack primary cilia and develop renal cysts. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410002F23Rik T A 7: 43,900,540 (GRCm39) D148E probably damaging Het
4930590J08Rik T C 6: 91,892,002 (GRCm39) V88A probably benign Het
4933430I17Rik A T 4: 62,450,519 (GRCm39) D31V possibly damaging Het
Acsl1 C A 8: 46,984,023 (GRCm39) A514E probably benign Het
Adam29 T C 8: 56,326,124 (GRCm39) Y110C probably damaging Het
Adamts20 T A 15: 94,301,891 (GRCm39) H27L probably benign Het
Ago2 A T 15: 72,991,204 (GRCm39) I578N probably damaging Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
AW011738 T C 4: 156,287,997 (GRCm39) probably benign Het
Bid C T 6: 120,874,216 (GRCm39) A110T possibly damaging Het
Cav1 A T 6: 17,339,331 (GRCm39) I139F probably damaging Het
Cep152 A T 2: 125,460,291 (GRCm39) probably null Het
Chrnb1 A G 11: 69,683,563 (GRCm39) L261P possibly damaging Het
Cntn3 C T 6: 102,219,014 (GRCm39) W535* probably null Het
Col4a4 A C 1: 82,444,321 (GRCm39) probably null Het
Daam2 A T 17: 49,769,241 (GRCm39) probably null Het
Ddx23 G A 15: 98,548,599 (GRCm39) R370W possibly damaging Het
Dgkh T C 14: 78,853,945 (GRCm39) I265V probably damaging Het
Ece1 A G 4: 137,666,074 (GRCm39) K306R probably benign Het
Fat1 C T 8: 45,497,265 (GRCm39) T4250M possibly damaging Het
Fezf1 T G 6: 23,246,906 (GRCm39) I309L probably damaging Het
Gabra4 T C 5: 71,795,580 (GRCm39) K206E probably damaging Het
Glt8d2 G T 10: 82,500,476 (GRCm39) S91R probably benign Het
H2-Oa A T 17: 34,312,873 (GRCm39) H50L possibly damaging Het
Hsd17b2 T C 8: 118,485,643 (GRCm39) Y369H possibly damaging Het
Hspg2 T A 4: 137,267,541 (GRCm39) S2050T probably damaging Het
Ice1 A T 13: 70,753,202 (GRCm39) S961R probably benign Het
Ippk T A 13: 49,603,494 (GRCm39) F367I probably damaging Het
Klkb1 T A 8: 45,728,514 (GRCm39) Q415L probably benign Het
Krtcap2 T A 3: 89,154,383 (GRCm39) N35K probably damaging Het
Lgi3 T C 14: 70,773,708 (GRCm39) V294A probably damaging Het
Lrp5 C T 19: 3,660,131 (GRCm39) V978I probably benign Het
Magi3 A T 3: 103,996,920 (GRCm39) D208E probably damaging Het
Mc2r T A 18: 68,540,853 (GRCm39) T147S probably benign Het
Mfsd4b1 C A 10: 39,882,070 (GRCm39) A72S probably benign Het
Msln A T 17: 25,970,896 (GRCm39) N150K probably damaging Het
Naaa A G 5: 92,425,894 (GRCm39) V33A probably benign Het
Nol10 A G 12: 17,398,555 (GRCm39) M1V probably null Het
Or4c3 G A 2: 89,851,505 (GRCm39) R302C probably benign Het
Or6c208 T A 10: 129,223,745 (GRCm39) M81K probably benign Het
Osbpl1a T A 18: 13,038,251 (GRCm39) Q269L probably benign Het
Pcnx2 C A 8: 126,614,453 (GRCm39) V333L probably benign Het
Peg10 A G 6: 4,755,778 (GRCm39) Y118C probably damaging Het
Pkhd1l1 A G 15: 44,366,733 (GRCm39) D737G possibly damaging Het
Ptgfr T A 3: 151,540,831 (GRCm39) T226S probably benign Het
Ptprz1 T A 6: 23,007,354 (GRCm39) V1639E probably damaging Het
Pttg1ip2 C A 5: 5,502,019 (GRCm39) W144C probably benign Het
Scgb2b20 T C 7: 33,065,621 (GRCm39) probably null Het
Sdr16c6 A G 4: 4,058,809 (GRCm39) V259A probably benign Het
Slc16a5 A T 11: 115,360,194 (GRCm39) I126F probably damaging Het
Slc51b T A 9: 65,322,478 (GRCm39) E21V probably damaging Het
Slc8a3 G T 12: 81,361,220 (GRCm39) T533N probably damaging Het
Snrnp40 C G 4: 130,271,836 (GRCm39) probably null Het
Spata3 A C 1: 85,949,783 (GRCm39) probably benign Het
Specc1l A G 10: 75,145,658 (GRCm39) D1101G probably damaging Het
Srf C A 17: 46,860,912 (GRCm39) G401C probably damaging Het
Stard9 C A 2: 120,504,117 (GRCm39) S221R probably damaging Het
Stradb A C 1: 59,030,264 (GRCm39) N173H probably benign Het
Sugp1 T A 8: 70,524,190 (GRCm39) D598E probably benign Het
Tdg T A 10: 82,477,378 (GRCm39) L35Q probably damaging Het
Tekt2 T C 4: 126,216,610 (GRCm39) probably null Het
Tex10 C T 4: 48,456,800 (GRCm39) R637Q probably benign Het
Tmprss2 T C 16: 97,370,262 (GRCm39) S301G probably benign Het
Tnrc18 A T 5: 142,762,079 (GRCm39) N515K unknown Het
Togaram1 A G 12: 65,013,709 (GRCm39) Y320C probably damaging Het
Tspyl3 A G 2: 153,066,717 (GRCm39) F174L probably damaging Het
Ttn C T 2: 76,553,193 (GRCm39) D31099N probably damaging Het
Ugt2b1 T A 5: 87,065,700 (GRCm39) L446F probably damaging Het
Utp25 T A 1: 192,800,617 (GRCm39) K401I probably damaging Het
Wdfy3 A G 5: 102,089,358 (GRCm39) L612P probably damaging Het
Zfp109 G A 7: 23,928,161 (GRCm39) T424M probably damaging Het
Zfp60 T A 7: 27,436,382 (GRCm39) M1K probably null Het
Other mutations in Ift20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02869:Ift20 APN 11 78,430,780 (GRCm39) splice site probably benign
R1762:Ift20 UTSW 11 78,430,860 (GRCm39) missense probably damaging 1.00
R1783:Ift20 UTSW 11 78,430,860 (GRCm39) missense probably damaging 1.00
R1784:Ift20 UTSW 11 78,430,860 (GRCm39) missense probably damaging 1.00
R1785:Ift20 UTSW 11 78,430,860 (GRCm39) missense probably damaging 1.00
R1786:Ift20 UTSW 11 78,430,860 (GRCm39) missense probably damaging 1.00
R1859:Ift20 UTSW 11 78,430,860 (GRCm39) nonsense probably null
R2004:Ift20 UTSW 11 78,431,797 (GRCm39) missense probably damaging 0.99
R2131:Ift20 UTSW 11 78,430,860 (GRCm39) missense probably damaging 1.00
R2133:Ift20 UTSW 11 78,430,860 (GRCm39) missense probably damaging 1.00
R2140:Ift20 UTSW 11 78,430,860 (GRCm39) missense probably damaging 1.00
R2141:Ift20 UTSW 11 78,430,860 (GRCm39) missense probably damaging 1.00
R2142:Ift20 UTSW 11 78,430,860 (GRCm39) missense probably damaging 1.00
R5909:Ift20 UTSW 11 78,430,867 (GRCm39) missense possibly damaging 0.78
Predicted Primers PCR Primer
(F):5'- TCCTGCCACAGACCAGATAG -3'
(R):5'- CAATGACAAGCATGGACTGG -3'

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