Incidental Mutation 'R1786:Ift20'
ID202840
Institutional Source Beutler Lab
Gene Symbol Ift20
Ensembl Gene ENSMUSG00000001105
Gene Nameintraflagellar transport 20
Synonyms
MMRRC Submission 039817-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R1786 (G1)
Quality Score225
Status Validated
Chromosome11
Chromosomal Location78536361-78541737 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 78540034 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Lysine at position 68 (E68K)
Ref Sequence ENSEMBL: ENSMUSP00000118015 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017759] [ENSMUST00000050366] [ENSMUST00000103242] [ENSMUST00000108275] [ENSMUST00000108277] [ENSMUST00000128788]
Predicted Effect probably benign
Transcript: ENSMUST00000017759
SMART Domains Protein: ENSMUSP00000017759
Gene: ENSMUSG00000017615

DomainStartEndE-ValueType
BTB 28 128 4.8e-18 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000050366
AA Change: E68K

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000051699
Gene: ENSMUSG00000001105
AA Change: E68K

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 probably damaging
Transcript: ENSMUST00000108275
AA Change: E68K

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000103910
Gene: ENSMUSG00000001105
AA Change: E68K

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 probably damaging
Transcript: ENSMUST00000128788
AA Change: E68K

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000118015
Gene: ENSMUSG00000001105
AA Change: E68K

DomainStartEndE-ValueType
Pfam:IFT20 9 128 1.2e-52 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137120
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152016
Meta Mutation Damage Score 0.188 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.3%
  • 20x: 92.4%
Validation Efficiency 97% (98/101)
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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010111I01Rik T A 13: 63,210,149 C656S probably benign Het
9030624J02Rik T C 7: 118,794,575 Y516H probably damaging Het
A2ml1 T A 6: 128,576,260 N178I probably damaging Het
Abcc4 G A 14: 118,553,349 R749C probably damaging Het
Acot11 T C 4: 106,762,035 E201G probably damaging Het
Akap13 G T 7: 75,611,434 A1269S probably benign Het
Aldh4a1 T C 4: 139,644,128 V451A probably benign Het
Aox3 A G 1: 58,169,843 H845R probably damaging Het
Asb6 G A 2: 30,827,076 R46W probably damaging Het
Bpifb6 T C 2: 153,906,861 F259S probably damaging Het
Cad T A 5: 31,058,072 F76I probably damaging Het
Camk2b T C 11: 5,977,880 E390G probably benign Het
Cars C A 7: 143,592,474 R71M probably damaging Het
Ccdc170 T G 10: 4,519,043 I197S probably benign Het
Cdc20b A T 13: 113,081,134 K362N probably damaging Het
Cntrl CAGAG CAG 2: 35,122,806 probably null Het
Cpd T C 11: 76,792,798 D1045G probably benign Het
Crocc T C 4: 141,021,802 D1564G probably damaging Het
Csf1r A T 18: 61,129,077 M802L probably damaging Het
Dctn4 T C 18: 60,546,335 probably null Het
Dnah5 A G 15: 28,313,786 Q1916R probably damaging Het
Dpysl2 A G 14: 66,862,665 probably benign Het
Dync2h1 A G 9: 7,081,084 Y2871H probably damaging Het
Fam221b T A 4: 43,665,537 H307L probably damaging Het
Foxn4 C T 5: 114,263,132 D37N probably damaging Het
Gemin4 G C 11: 76,211,050 P962A probably damaging Het
Gm9797 T C 10: 11,609,325 noncoding transcript Het
Golim4 A T 3: 75,908,149 V116D probably damaging Het
Gper1 C T 5: 139,426,722 P274L probably damaging Het
Gpr132 A G 12: 112,852,403 S268P probably damaging Het
Gtpbp2 T C 17: 46,161,202 M21T probably benign Het
Hivep1 C T 13: 42,183,786 A2447V possibly damaging Het
Insrr G A 3: 87,810,572 probably null Het
Kcnh8 T C 17: 52,893,933 V465A probably damaging Het
Kif5c T A 2: 49,758,805 probably benign Het
Kmt2a G A 9: 44,819,675 probably benign Het
Lhx6 G T 2: 36,087,458 C327* probably null Het
Lifr A G 15: 7,181,856 D625G possibly damaging Het
Llgl1 T C 11: 60,707,240 V370A probably benign Het
Lman1 A T 18: 65,991,582 M362K probably damaging Het
Lmtk2 C T 5: 144,174,988 T842I possibly damaging Het
Lpin3 T A 2: 160,896,809 L227* probably null Het
Ltv1 C G 10: 13,182,536 probably benign Het
Magel2 A T 7: 62,377,738 H130L unknown Het
Mettl17 A T 14: 51,888,735 probably benign Het
Mnx1 T A 5: 29,474,189 S299C unknown Het
Mov10 A T 3: 104,818,116 I59N possibly damaging Het
Myo7b T C 18: 31,994,897 I581V probably benign Het
Ncdn T A 4: 126,745,273 probably null Het
Ndufa4 A T 6: 11,900,575 V37E probably benign Het
Nhsl1 T G 10: 18,524,664 L546R probably benign Het
Nop9 T C 14: 55,751,142 L347P probably damaging Het
Nrp1 A T 8: 128,498,516 E782D probably damaging Het
Ntrk3 G A 7: 78,477,935 probably benign Het
Olfr341 A G 2: 36,480,047 S28P possibly damaging Het
Olfr372 A G 8: 72,058,436 Y252C probably damaging Het
Olfr968 A T 9: 39,772,495 C102S probably benign Het
Osbpl6 T A 2: 76,586,214 I546K probably damaging Het
Pard6g T C 18: 80,117,308 V212A probably damaging Het
Pknox2 A G 9: 36,909,684 V294A probably damaging Het
Plekha1 T C 7: 130,892,253 V106A probably benign Het
Plekha6 C A 1: 133,279,365 probably null Het
Ptgdr A T 14: 44,858,579 Y225* probably null Het
Ptpn22 A G 3: 103,874,052 I90V probably damaging Het
Pygb C T 2: 150,816,772 T372I probably damaging Het
Pzp T C 6: 128,491,161 probably null Het
Qrich2 C T 11: 116,441,449 G2307D probably damaging Het
Rfwd3 A T 8: 111,297,402 V96E probably benign Het
Senp1 T A 15: 98,075,967 T132S probably benign Het
Slc9a4 T G 1: 40,607,741 probably null Het
Slfn9 T A 11: 82,981,307 I868F probably damaging Het
St3gal6 T C 16: 58,475,871 D137G probably damaging Het
Synj1 G T 16: 90,964,517 A687D probably damaging Het
Syt4 A G 18: 31,443,443 probably benign Het
Tacc1 A T 8: 25,164,493 N271K probably damaging Het
Tdrd6 T C 17: 43,624,833 T1775A probably benign Het
Tecpr1 T A 5: 144,208,645 T595S probably benign Het
Tjp3 T A 10: 81,278,054 M457L possibly damaging Het
Tmem200a T A 10: 25,993,927 H148L probably damaging Het
Trappc8 A G 18: 20,834,940 probably null Het
Txk T A 5: 72,696,579 T472S probably damaging Het
Ubr4 T A 4: 139,423,945 M1897K probably damaging Het
Uggt2 A G 14: 119,061,376 L391P probably damaging Het
Uncx T C 5: 139,547,547 S456P probably benign Het
Vps13b A G 15: 35,879,791 Y3004C probably damaging Het
Wisp1 G A 15: 66,906,489 C53Y probably damaging Het
Zbtb46 C T 2: 181,391,431 C479Y probably damaging Het
Zc3h7a A T 16: 11,150,605 Y503* probably null Het
Zdhhc13 T A 7: 48,824,644 L548Q possibly damaging Het
Zfp236 T C 18: 82,621,304 M1225V probably benign Het
Zfp280d T C 9: 72,308,005 F133L probably damaging Het
Zfp503 A T 14: 21,985,520 C443S possibly damaging Het
Zfyve26 T A 12: 79,268,434 I1423F possibly damaging Het
Other mutations in Ift20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02869:Ift20 APN 11 78539954 splice site probably benign
R1762:Ift20 UTSW 11 78540034 missense probably damaging 1.00
R1783:Ift20 UTSW 11 78540034 missense probably damaging 1.00
R1784:Ift20 UTSW 11 78540034 missense probably damaging 1.00
R1785:Ift20 UTSW 11 78540034 missense probably damaging 1.00
R1859:Ift20 UTSW 11 78540034 nonsense probably null
R1930:Ift20 UTSW 11 78540004 missense possibly damaging 0.55
R2004:Ift20 UTSW 11 78540971 missense probably damaging 0.99
R2131:Ift20 UTSW 11 78540034 missense probably damaging 1.00
R2133:Ift20 UTSW 11 78540034 missense probably damaging 1.00
R2140:Ift20 UTSW 11 78540034 missense probably damaging 1.00
R2141:Ift20 UTSW 11 78540034 missense probably damaging 1.00
R2142:Ift20 UTSW 11 78540034 missense probably damaging 1.00
R5909:Ift20 UTSW 11 78540041 missense possibly damaging 0.78
Predicted Primers PCR Primer
(F):5'- AGTGAGCATTGGACAGCCAC -3'
(R):5'- CAATGACAAGCATGGACTGG -3'

Sequencing Primer
(F):5'- CAACACAATTTAGGTGTGGTTAGCTC -3'
(R):5'- GGTTCAGTTATGCAAGCACC -3'
Posted On2014-06-23