Incidental Mutation 'R1167:Ift140'
ID 101215
Institutional Source Beutler Lab
Gene Symbol Ift140
Ensembl Gene ENSMUSG00000024169
Gene Name intraflagellar transport 140
Synonyms Tce5, Wdtc2
MMRRC Submission 039240-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1167 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 25235056-25318461 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 25254719 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 131 (S131A)
Ref Sequence ENSEMBL: ENSMUSP00000116689 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024983] [ENSMUST00000137386] [ENSMUST00000156945]
AlphaFold E9PY46
Predicted Effect probably benign
Transcript: ENSMUST00000024983
AA Change: S400A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000024983
Gene: ENSMUSG00000024169
AA Change: S400A

DomainStartEndE-ValueType
WD40 55 89 6.14e1 SMART
WD40 91 131 1.49e0 SMART
Blast:WD40 252 304 3e-15 BLAST
WD40 308 352 2.76e0 SMART
Blast:WD40 364 405 8e-17 BLAST
Blast:WD40 510 547 6e-13 BLAST
Blast:WD40 560 603 3e-7 BLAST
Blast:TPR 863 896 9e-13 BLAST
Blast:TPR 1011 1044 1e-13 BLAST
Blast:TPR 1377 1410 8e-13 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000137386
AA Change: S400A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000116163
Gene: ENSMUSG00000024169
AA Change: S400A

DomainStartEndE-ValueType
WD40 55 89 6.14e1 SMART
WD40 91 131 1.49e0 SMART
Blast:WD40 252 304 3e-15 BLAST
WD40 308 352 2.76e0 SMART
Blast:WD40 364 405 1e-16 BLAST
Blast:WD40 510 547 5e-13 BLAST
Blast:WD40 560 603 3e-7 BLAST
Blast:TPR 863 896 8e-13 BLAST
Blast:TPR 1011 1044 9e-14 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142000
Predicted Effect probably benign
Transcript: ENSMUST00000156945
AA Change: S131A

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000116689
Gene: ENSMUSG00000024169
AA Change: S131A

DomainStartEndE-ValueType
Blast:WD40 2 35 6e-12 BLAST
SCOP:d1erja_ 19 131 5e-7 SMART
Blast:WD40 39 83 1e-24 BLAST
Blast:WD40 95 136 2e-18 BLAST
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 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 one of the subunits of the intraflagellar transport (IFT) complex A. Intraflagellar transport is involved in the genesis, resorption and signaling of primary cilia. The primary cilium is a microtubule-based sensory organelle at the surface of most quiescent mammalian cells, that receives signals from its environment, such as the flow of fluid, light or odors, and transduces those signals to the nucleus. Loss of the corresponding protein in mouse results in renal cystic disease. [provided by RefSeq, Jun 2012]
PHENOTYPE: Mice homozygous for a reporter knock-out allele die at mid-gestation. Mice homozygous for an ENU-induced mutation exhibit cardiovascular defects and situs abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik A T 7: 40,643,003 (GRCm39) D315V probably damaging Het
Acr T C 15: 89,458,177 (GRCm39) I286T probably damaging Het
Adnp A G 2: 168,026,420 (GRCm39) S292P probably benign Het
Apol6 T A 15: 76,931,308 (GRCm39) Y17* probably null Het
Arhgap22 A G 14: 33,065,264 (GRCm39) probably null Het
Bfar A G 16: 13,516,758 (GRCm39) K202E possibly damaging Het
Bmpr2 A T 1: 59,898,463 (GRCm39) S470C probably damaging Het
Cep135 A G 5: 76,772,484 (GRCm39) E623G probably damaging Het
Clcn3 A G 8: 61,375,822 (GRCm39) probably null Het
Clptm1 A T 7: 19,368,136 (GRCm39) M523K probably damaging Het
Cyp26b1 A G 6: 84,561,312 (GRCm39) W117R probably damaging Het
Dnmt3c T G 2: 153,553,701 (GRCm39) probably null Het
Dst A G 1: 34,262,939 (GRCm39) E2212G probably damaging Het
Edrf1 A G 7: 133,245,795 (GRCm39) T238A probably benign Het
Elmo1 T C 13: 20,369,625 (GRCm39) V10A probably damaging Het
Ermp1 A G 19: 29,606,079 (GRCm39) S225P possibly damaging Het
Fem1al C T 11: 29,773,567 (GRCm39) R630H probably damaging Het
Fes A T 7: 80,032,857 (GRCm39) L296Q probably damaging Het
Foxn1 A T 11: 78,249,892 (GRCm39) N544K probably damaging Het
Gga1 C G 15: 78,772,370 (GRCm39) N223K probably damaging Het
Gm10608 CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA 9: 118,989,784 (GRCm39) probably null Het
Gm4884 A T 7: 40,693,336 (GRCm39) Q435L possibly damaging Het
Gm8444 T C 15: 81,727,581 (GRCm39) probably benign Het
Ipo4 A G 14: 55,872,477 (GRCm39) L88P probably damaging Het
Itgal G A 7: 126,900,111 (GRCm39) S123N probably damaging Het
Kcnn3 C T 3: 89,472,259 (GRCm39) Q344* probably null Het
Lrrc8e A T 8: 4,285,337 (GRCm39) M521L probably benign Het
Myocd G T 11: 65,087,203 (GRCm39) D113E possibly damaging Het
Nek4 G A 14: 30,696,302 (GRCm39) R499H possibly damaging Het
Notch3 T C 17: 32,341,719 (GRCm39) D2011G possibly damaging Het
Ola1 A G 2: 72,927,538 (GRCm39) V347A probably damaging Het
Or13p5 C A 4: 118,591,829 (GRCm39) F34L possibly damaging Het
Or6c75 G A 10: 129,337,019 (GRCm39) V89I probably benign Het
Or8u10 A G 2: 85,915,635 (GRCm39) V162A probably benign Het
Oxct2b A G 4: 123,011,378 (GRCm39) T433A probably damaging Het
P2ry14 T C 3: 59,022,552 (GRCm39) R312G probably damaging Het
Pbrm1 A G 14: 30,772,099 (GRCm39) N398D probably damaging Het
Pdc T C 1: 150,208,996 (GRCm39) Y160H probably damaging Het
Pdlim2 C T 14: 70,402,228 (GRCm39) R296H probably damaging Het
Pop4 A T 7: 37,962,693 (GRCm39) D190E probably benign Het
Prb1c G A 6: 132,338,553 (GRCm39) P222S unknown Het
R3hdm4 A G 10: 79,747,907 (GRCm39) probably null Het
Rab1a C A 11: 20,173,172 (GRCm39) T91K possibly damaging Het
Rad9a A G 19: 4,247,501 (GRCm39) V215A possibly damaging Het
Rassf3 A G 10: 121,252,159 (GRCm39) V84A probably damaging Het
Rftn2 G A 1: 55,243,458 (GRCm39) T270M probably damaging Het
Rho A G 6: 115,912,384 (GRCm39) T100A probably damaging Het
Rnft2 T C 5: 118,366,947 (GRCm39) I264V possibly damaging Het
Robo3 A T 9: 37,335,203 (GRCm39) Y567* probably null Het
Rpp14 T A 14: 8,083,705 (GRCm38) probably null Het
Rtkn2 T C 10: 67,833,450 (GRCm39) S98P probably damaging Het
Ryr2 A G 13: 11,674,999 (GRCm39) V3376A possibly damaging Het
Sbf2 A T 7: 109,963,756 (GRCm39) W1030R probably damaging Het
Setbp1 G A 18: 78,900,451 (GRCm39) A1072V possibly damaging Het
Slc4a10 A G 2: 62,058,918 (GRCm39) K142E probably damaging Het
Slc52a2 A G 15: 76,423,791 (GRCm39) E40G probably benign Het
Slc8a2 A G 7: 15,891,312 (GRCm39) N784S possibly damaging Het
Spats2l A T 1: 57,982,270 (GRCm39) Q384L probably damaging Het
Steap4 A C 5: 8,026,520 (GRCm39) K161T probably benign Het
Taf10 T C 7: 105,392,438 (GRCm39) S188G probably benign Het
Tbc1d4 C T 14: 101,845,455 (GRCm39) D148N probably damaging Het
Tenm2 T G 11: 36,755,511 (GRCm39) K162N probably benign Het
Tmem147 A G 7: 30,427,221 (GRCm39) V146A probably benign Het
Tnfsf8 A G 4: 63,755,323 (GRCm39) S100P possibly damaging Het
Trim56 T C 5: 137,141,374 (GRCm39) Y714C probably damaging Het
Ubxn8 A G 8: 34,131,929 (GRCm39) S13P probably damaging Het
Usp49 A G 17: 47,983,151 (GRCm39) D52G possibly damaging Het
Vegfc A C 8: 54,639,078 (GRCm39) Y408S probably benign Het
Vmn2r77 A G 7: 86,450,954 (GRCm39) N280S probably benign Het
Vmn2r8 T A 5: 108,951,042 (GRCm39) L134F probably benign Het
Wdfy3 T A 5: 102,023,797 (GRCm39) I2437F probably benign Het
Wwc2 A T 8: 48,311,814 (GRCm39) L783* probably null Het
Zer1 C T 2: 29,998,258 (GRCm39) R351H probably benign Het
Zfp715 A T 7: 42,947,861 (GRCm39) F700I possibly damaging Het
Zfp995 G A 17: 22,098,960 (GRCm39) H425Y probably damaging Het
Other mutations in Ift140
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00753:Ift140 APN 17 25,274,618 (GRCm39) missense probably damaging 1.00
IGL00966:Ift140 APN 17 25,237,776 (GRCm39) missense probably damaging 1.00
IGL01082:Ift140 APN 17 25,267,429 (GRCm39) missense possibly damaging 0.89
IGL01394:Ift140 APN 17 25,313,676 (GRCm39) missense probably benign 0.02
IGL01816:Ift140 APN 17 25,305,999 (GRCm39) splice site probably null
IGL01994:Ift140 APN 17 25,267,417 (GRCm39) missense probably damaging 1.00
IGL02102:Ift140 APN 17 25,252,104 (GRCm39) missense probably benign 0.03
IGL02207:Ift140 APN 17 25,274,572 (GRCm39) missense probably benign
IGL02493:Ift140 APN 17 25,306,898 (GRCm39) nonsense probably null
IGL02735:Ift140 APN 17 25,253,009 (GRCm39) splice site probably benign
IGL02902:Ift140 APN 17 25,309,736 (GRCm39) missense probably damaging 1.00
IGL03037:Ift140 APN 17 25,311,368 (GRCm39) missense probably benign 0.02
IGL03122:Ift140 APN 17 25,305,884 (GRCm39) missense probably damaging 1.00
IGL03206:Ift140 APN 17 25,311,800 (GRCm39) missense probably damaging 0.98
IGL03271:Ift140 APN 17 25,306,880 (GRCm39) missense probably damaging 1.00
IGL03358:Ift140 APN 17 25,306,958 (GRCm39) missense probably damaging 1.00
PIT4515001:Ift140 UTSW 17 25,305,834 (GRCm39) missense probably damaging 0.98
R0100:Ift140 UTSW 17 25,309,928 (GRCm39) nonsense probably null
R0100:Ift140 UTSW 17 25,309,928 (GRCm39) nonsense probably null
R0197:Ift140 UTSW 17 25,309,907 (GRCm39) missense probably benign 0.09
R0238:Ift140 UTSW 17 25,264,497 (GRCm39) nonsense probably null
R0238:Ift140 UTSW 17 25,264,497 (GRCm39) nonsense probably null
R0239:Ift140 UTSW 17 25,264,497 (GRCm39) nonsense probably null
R0239:Ift140 UTSW 17 25,264,497 (GRCm39) nonsense probably null
R0355:Ift140 UTSW 17 25,267,409 (GRCm39) nonsense probably null
R0399:Ift140 UTSW 17 25,269,314 (GRCm39) missense possibly damaging 0.77
R0574:Ift140 UTSW 17 25,270,734 (GRCm39) splice site probably null
R0610:Ift140 UTSW 17 25,254,777 (GRCm39) missense probably benign 0.06
R0701:Ift140 UTSW 17 25,309,907 (GRCm39) missense probably benign 0.09
R0883:Ift140 UTSW 17 25,309,907 (GRCm39) missense probably benign 0.09
R0900:Ift140 UTSW 17 25,254,786 (GRCm39) missense probably benign 0.22
R1295:Ift140 UTSW 17 25,307,907 (GRCm39) critical splice donor site probably null
R1588:Ift140 UTSW 17 25,306,959 (GRCm39) missense probably damaging 1.00
R1619:Ift140 UTSW 17 25,307,839 (GRCm39) missense probably damaging 1.00
R1637:Ift140 UTSW 17 25,244,608 (GRCm39) missense probably benign 0.40
R1854:Ift140 UTSW 17 25,254,813 (GRCm39) missense probably benign 0.05
R2397:Ift140 UTSW 17 25,239,710 (GRCm39) missense probably damaging 1.00
R2510:Ift140 UTSW 17 25,255,282 (GRCm39) missense probably benign 0.02
R2918:Ift140 UTSW 17 25,254,805 (GRCm39) missense possibly damaging 0.66
R3433:Ift140 UTSW 17 25,255,282 (GRCm39) missense probably benign 0.02
R3878:Ift140 UTSW 17 25,247,918 (GRCm39) missense probably benign 0.25
R4559:Ift140 UTSW 17 25,309,741 (GRCm39) missense probably damaging 0.97
R4670:Ift140 UTSW 17 25,317,935 (GRCm39) unclassified probably benign
R4711:Ift140 UTSW 17 25,313,691 (GRCm39) splice site probably null
R4934:Ift140 UTSW 17 25,267,462 (GRCm39) missense probably benign
R4949:Ift140 UTSW 17 25,313,639 (GRCm39) missense probably benign 0.06
R4982:Ift140 UTSW 17 25,255,968 (GRCm39) missense probably damaging 0.99
R5099:Ift140 UTSW 17 25,309,674 (GRCm39) missense probably damaging 1.00
R5223:Ift140 UTSW 17 25,254,786 (GRCm39) missense probably benign 0.22
R5268:Ift140 UTSW 17 25,239,601 (GRCm39) missense possibly damaging 0.48
R5423:Ift140 UTSW 17 25,252,059 (GRCm39) missense probably damaging 0.96
R5480:Ift140 UTSW 17 25,239,550 (GRCm39) missense probably damaging 1.00
R5655:Ift140 UTSW 17 25,264,038 (GRCm39) missense probably damaging 1.00
R5756:Ift140 UTSW 17 25,247,787 (GRCm39) missense possibly damaging 0.62
R5837:Ift140 UTSW 17 25,308,514 (GRCm39) missense probably damaging 1.00
R5894:Ift140 UTSW 17 25,252,893 (GRCm39) missense possibly damaging 0.92
R5907:Ift140 UTSW 17 25,311,345 (GRCm39) missense probably benign 0.02
R5966:Ift140 UTSW 17 25,313,735 (GRCm39) nonsense probably null
R6000:Ift140 UTSW 17 25,255,934 (GRCm39) missense probably benign 0.00
R6046:Ift140 UTSW 17 25,274,563 (GRCm39) missense probably benign 0.00
R6050:Ift140 UTSW 17 25,309,979 (GRCm39) missense probably damaging 1.00
R6103:Ift140 UTSW 17 25,312,100 (GRCm39) missense probably damaging 1.00
R6239:Ift140 UTSW 17 25,247,946 (GRCm39) missense probably benign 0.26
R6287:Ift140 UTSW 17 25,269,408 (GRCm39) missense probably benign
R6539:Ift140 UTSW 17 25,313,643 (GRCm39) missense possibly damaging 0.87
R6656:Ift140 UTSW 17 25,251,147 (GRCm39) missense probably damaging 0.96
R6723:Ift140 UTSW 17 25,252,090 (GRCm39) missense probably benign 0.08
R6749:Ift140 UTSW 17 25,317,890 (GRCm39) missense probably damaging 0.99
R6892:Ift140 UTSW 17 25,239,520 (GRCm39) missense possibly damaging 0.95
R7151:Ift140 UTSW 17 25,274,699 (GRCm39) missense probably damaging 1.00
R7235:Ift140 UTSW 17 25,239,619 (GRCm39) missense possibly damaging 0.88
R7424:Ift140 UTSW 17 25,256,010 (GRCm39) missense possibly damaging 0.81
R7552:Ift140 UTSW 17 25,252,089 (GRCm39) missense probably benign 0.02
R7560:Ift140 UTSW 17 25,311,315 (GRCm39) missense probably benign 0.28
R7660:Ift140 UTSW 17 25,270,798 (GRCm39) missense probably damaging 1.00
R8105:Ift140 UTSW 17 25,255,949 (GRCm39) missense probably benign 0.01
R8415:Ift140 UTSW 17 25,311,889 (GRCm39) missense probably damaging 0.99
R8437:Ift140 UTSW 17 25,313,651 (GRCm39) missense probably damaging 0.99
R8747:Ift140 UTSW 17 25,254,809 (GRCm39) missense probably benign
R8932:Ift140 UTSW 17 25,305,862 (GRCm39) missense probably benign 0.03
R9226:Ift140 UTSW 17 25,317,839 (GRCm39) missense probably benign 0.00
R9347:Ift140 UTSW 17 25,313,753 (GRCm39) missense probably benign 0.00
R9451:Ift140 UTSW 17 25,252,925 (GRCm39) missense probably benign 0.33
R9456:Ift140 UTSW 17 25,254,758 (GRCm39) missense probably benign 0.03
R9782:Ift140 UTSW 17 25,264,151 (GRCm39) critical splice donor site probably null
Predicted Primers
Posted On 2014-01-15