Incidental Mutation 'R7235:Ift140'
ID 562793
Institutional Source Beutler Lab
Gene Symbol Ift140
Ensembl Gene ENSMUSG00000024169
Gene Name intraflagellar transport 140
Synonyms Tce5, Wdtc2
MMRRC Submission 045305-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7235 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 25235056-25318461 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 25239619 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 92 (D92V)
Ref Sequence ENSEMBL: ENSMUSP00000024983 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024983] [ENSMUST00000137386]
AlphaFold E9PY46
Predicted Effect possibly damaging
Transcript: ENSMUST00000024983
AA Change: D92V

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000024983
Gene: ENSMUSG00000024169
AA Change: D92V

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 possibly damaging
Transcript: ENSMUST00000137386
AA Change: D92V

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000116163
Gene: ENSMUSG00000024169
AA Change: D92V

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 98% (61/62)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak T A 19: 8,989,852 (GRCm39) M3712K unknown Het
Bri3bp A G 5: 125,518,748 (GRCm39) E8G unknown Het
Brip1 C T 11: 86,029,701 (GRCm39) R611Q possibly damaging Het
Carm1 T G 9: 21,498,701 (GRCm39) probably benign Het
Catsper4 A T 4: 133,939,892 (GRCm39) probably null Het
Ccng2 C G 5: 93,421,202 (GRCm39) S237R probably benign Het
Cip2a T A 16: 48,821,422 (GRCm39) L176H probably damaging Het
Clk4 A G 11: 51,167,012 (GRCm39) D330G probably damaging Het
Dcdc2c A G 12: 28,520,718 (GRCm39) S453P Het
Ddx46 G A 13: 55,811,053 (GRCm39) V550I probably benign Het
Dennd1a T C 2: 37,691,073 (GRCm39) N676D probably benign Het
Dnah3 T C 7: 119,631,893 (GRCm39) N1365S probably damaging Het
Dsg1b T C 18: 20,532,480 (GRCm39) V508A probably benign Het
Dus2 T C 8: 106,742,587 (GRCm39) V39A possibly damaging Het
Dync1li1 T C 9: 114,544,231 (GRCm39) V301A possibly damaging Het
Efcc1 T G 6: 87,730,780 (GRCm39) S513A probably benign Het
Eif3f T C 7: 108,537,295 (GRCm39) V167A possibly damaging Het
Ephb2 A G 4: 136,421,139 (GRCm39) Y404H probably damaging Het
Eqtn A T 4: 94,811,936 (GRCm39) D152E probably damaging Het
Ercc5 A C 1: 44,217,363 (GRCm39) K902T possibly damaging Het
Erlec1 T A 11: 30,900,751 (GRCm39) E139V possibly damaging Het
Evl G A 12: 108,614,719 (GRCm39) G38R probably damaging Het
Fads2b T G 2: 85,330,563 (GRCm39) H248P probably damaging Het
Foxd2 T C 4: 114,765,468 (GRCm39) N184S unknown Het
Frem3 T C 8: 81,417,354 (GRCm39) Y2020H probably benign Het
Ganc T C 2: 120,264,198 (GRCm39) F384L probably damaging Het
Grin2a A G 16: 9,397,129 (GRCm39) L986P probably damaging Het
Inpp5b A G 4: 124,645,185 (GRCm39) K158E probably benign Het
Iscu T A 5: 113,914,943 (GRCm39) S152T probably benign Het
Isl2 C T 9: 55,451,455 (GRCm39) T115I probably benign Het
Kalrn T A 16: 33,996,131 (GRCm39) T1542S probably benign Het
Kat6a A G 8: 23,404,285 (GRCm39) D454G possibly damaging Het
Kcnj10 T C 1: 172,196,993 (GRCm39) I169T probably damaging Het
Klk12 T C 7: 43,422,723 (GRCm39) S217P probably damaging Het
Lancl1 T C 1: 67,077,694 (GRCm39) N14S probably benign Het
Map2 A G 1: 66,453,807 (GRCm39) Y899C probably damaging Het
Msantd5f9 G T 4: 73,835,808 (GRCm39) L219M probably benign Het
Nr1h5 C T 3: 102,856,358 (GRCm39) probably null Het
Nup98 T C 7: 101,774,491 (GRCm39) T1515A probably damaging Het
Obscn A C 11: 58,971,666 (GRCm39) V2183G probably damaging Het
Or52n2 C T 7: 104,541,926 (GRCm39) R303Q probably benign Het
Osbpl8 A G 10: 111,105,288 (GRCm39) T248A probably benign Het
Pias3 T A 3: 96,611,679 (GRCm39) S533T probably benign Het
Pkd1l3 GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA 8: 110,350,827 (GRCm39) probably benign Het
Plxna1 A G 6: 89,317,573 (GRCm39) Y680H probably damaging Het
Pnliprp2 A G 19: 58,763,659 (GRCm39) N436S probably benign Het
Pold1 T A 7: 44,191,244 (GRCm39) M196L probably benign Het
Prkdc G A 16: 15,532,127 (GRCm39) V1464I probably benign Het
Ptk2b G A 14: 66,394,536 (GRCm39) Q857* probably null Het
Qars1 T A 9: 108,387,331 (GRCm39) L185Q probably damaging Het
Rabep1 A G 11: 70,831,290 (GRCm39) N859S probably benign Het
Rnf19b A G 4: 128,977,571 (GRCm39) H156R Het
Sart3 T C 5: 113,891,703 (GRCm39) Q423R probably damaging Het
Selplg GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT 5: 113,957,756 (GRCm39) probably benign Het
Slc6a21 C T 7: 44,930,182 (GRCm39) H194Y probably damaging Het
Tcf4 G A 18: 69,790,866 (GRCm39) V420I probably damaging Het
Tjp1 T C 7: 64,968,321 (GRCm39) D701G probably benign Het
Trim42 T C 9: 97,251,761 (GRCm39) D46G probably damaging Het
Usp19 C T 9: 108,372,123 (GRCm39) R429* probably null Het
Uxs1 T C 1: 43,804,087 (GRCm39) N276S probably damaging Het
Vps50 A G 6: 3,588,078 (GRCm39) I684V probably benign Het
Yars2 T A 16: 16,122,556 (GRCm39) D307E probably benign Het
Zfp934 A T 13: 62,665,964 (GRCm39) C258S 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
R1167:Ift140 UTSW 17 25,254,719 (GRCm39) missense probably benign 0.01
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
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 PCR Primer
(F):5'- TCTATGTGTCAGACCGCTTC -3'
(R):5'- ACGAGAGCAGCTGAACCTTAC -3'

Sequencing Primer
(F):5'- GTGTCAGACCGCTTCTTGATGTAC -3'
(R):5'- CAACCACACATTTCCTATACCTTGGG -3'
Posted On 2019-06-26