Incidental Mutation 'R5894:Ift140'
ID 457417
Institutional Source Beutler Lab
Gene Symbol Ift140
Ensembl Gene ENSMUSG00000024169
Gene Name intraflagellar transport 140
Synonyms Tce5, Wdtc2
MMRRC Submission 043238-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5894 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 25016091-25099495 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 25033919 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 348 (V348A)
Ref Sequence ENSEMBL: ENSMUSP00000116163 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024983] [ENSMUST00000137386] [ENSMUST00000156945]
AlphaFold E9PY46
Predicted Effect possibly damaging
Transcript: ENSMUST00000024983
AA Change: V348A

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000024983
Gene: ENSMUSG00000024169
AA Change: V348A

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: V348A

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000116163
Gene: ENSMUSG00000024169
AA Change: V348A

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 possibly damaging
Transcript: ENSMUST00000156945
AA Change: V79A

PolyPhen 2 Score 0.882 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000116689
Gene: ENSMUSG00000024169
AA Change: V79A

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: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 92.4%
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503B20Rik T A 3: 146,650,925 (GRCm38) E76V probably benign Het
Adcy2 A T 13: 68,625,852 (GRCm38) I1024N probably damaging Het
Agr2 A C 12: 35,995,510 (GRCm38) probably benign Het
Alpk2 T A 18: 65,281,072 (GRCm38) H1991L probably damaging Het
Amotl2 T A 9: 102,725,172 (GRCm38) M448K possibly damaging Het
Ankhd1 T A 18: 36,647,524 (GRCm38) F1876L probably damaging Het
Arl14 T C 3: 69,222,676 (GRCm38) V52A probably benign Het
Arntl2 A G 6: 146,823,234 (GRCm38) T409A possibly damaging Het
Atp6v1b2 T A 8: 69,107,566 (GRCm38) probably null Het
Bpifb4 G A 2: 153,940,932 (GRCm38) R19H possibly damaging Het
Ccdc144b C T 3: 36,019,975 (GRCm38) E342K possibly damaging Het
Cdh9 T A 15: 16,832,100 (GRCm38) L358I possibly damaging Het
Ces2h T G 8: 105,019,026 (GRCm38) I460M probably benign Het
Cog2 T C 8: 124,545,267 (GRCm38) Y507H probably benign Het
Crlf3 T A 11: 80,057,852 (GRCm38) R256W probably damaging Het
Csdc2 T A 15: 81,948,680 (GRCm38) F96I probably damaging Het
Csk A C 9: 57,628,675 (GRCm38) I264S probably damaging Het
Cyp2c29 G C 19: 39,330,389 (GRCm38) A438P possibly damaging Het
Ddx43 G A 9: 78,416,734 (GRCm38) G449D probably damaging Het
Fbxw18 G T 9: 109,700,167 (GRCm38) A106E possibly damaging Het
Fchsd2 C T 7: 101,191,752 (GRCm38) T156I probably benign Het
Frs2 T A 10: 117,081,106 (GRCm38) probably benign Het
Grid2ip A T 5: 143,388,911 (GRCm38) T922S probably damaging Het
Grm1 A G 10: 11,080,255 (GRCm38) L95P probably damaging Het
Insr A G 8: 3,174,869 (GRCm38) S200P possibly damaging Het
Ints12 A T 3: 133,098,558 (GRCm38) D102V probably damaging Het
Kank1 A G 19: 25,424,200 (GRCm38) D1057G probably damaging Het
Kng1 T A 16: 23,073,363 (GRCm38) D225E probably benign Het
Lama1 A T 17: 67,779,047 (GRCm38) probably null Het
Lpin2 A G 17: 71,246,934 (GRCm38) D882G probably benign Het
Lrp1b A T 2: 41,498,221 (GRCm38) F464Y probably benign Het
Musk G A 4: 58,373,583 (GRCm38) C836Y probably damaging Het
Mx1 C T 16: 97,454,206 (GRCm38) D216N probably damaging Het
Ndrg3 A T 2: 156,928,778 (GRCm38) N350K probably benign Het
Oas3 G A 5: 120,756,954 (GRCm38) P990L probably damaging Het
Olfr1216 T A 2: 89,014,055 (GRCm38) N3I probably damaging Het
Olfr1255 T C 2: 89,817,213 (GRCm38) S296P possibly damaging Het
Olfr791 A G 10: 129,526,488 (GRCm38) D87G probably damaging Het
Otoa T C 7: 121,121,869 (GRCm38) L369P probably damaging Het
Plcg2 A G 8: 117,504,349 (GRCm38) T57A probably damaging Het
Prune2 A T 19: 17,121,391 (GRCm38) T1420S possibly damaging Het
Ptpdc1 A G 13: 48,590,322 (GRCm38) F201S probably damaging Het
Rnf214 A G 9: 45,866,618 (GRCm38) V630A probably damaging Het
Rxrb T A 17: 34,035,744 (GRCm38) I181N probably damaging Het
Scrib T C 15: 76,067,732 (GRCm38) N69S probably damaging Het
Scyl2 A G 10: 89,640,819 (GRCm38) S815P probably benign Het
Sgcd A G 11: 47,355,201 (GRCm38) V58A probably damaging Het
Slc13a3 C T 2: 165,424,623 (GRCm38) V374I probably benign Het
Slc22a4 A T 11: 53,997,515 (GRCm38) I229N probably benign Het
Slc44a5 A G 3: 154,256,573 (GRCm38) Y381C probably damaging Het
Sohlh1 A G 2: 25,844,667 (GRCm38) S205P possibly damaging Het
Spata20 T C 11: 94,483,618 (GRCm38) M308V probably damaging Het
Stag3 T G 5: 138,298,838 (GRCm38) I550R probably damaging Het
Tac2 A G 10: 127,726,102 (GRCm38) E25G possibly damaging Het
Tars2 T C 3: 95,747,652 (GRCm38) probably null Het
Tefm G A 11: 80,140,231 (GRCm38) R60C probably damaging Het
Trem3 T C 17: 48,258,455 (GRCm38) V179A probably benign Het
Trim37 G T 11: 87,201,440 (GRCm38) D692Y probably damaging Het
Trpc4ap T C 2: 155,666,213 (GRCm38) T173A probably benign Het
Unc13c C T 9: 73,693,204 (GRCm38) probably null Het
Usp18 A G 6: 121,261,497 (GRCm38) K201R probably benign Het
Usp35 T A 7: 97,313,077 (GRCm38) Y524F probably damaging Het
Usp53 A G 3: 122,959,085 (GRCm38) F208L probably damaging Het
Vmn1r80 A T 7: 12,193,727 (GRCm38) I255F probably damaging Het
Vstm2a A T 11: 16,261,483 (GRCm38) I98F probably benign Het
Wdfy4 T A 14: 33,133,360 (GRCm38) I766F possibly damaging Het
Wdr17 T A 8: 54,696,300 (GRCm38) Y55F probably damaging Het
Xpot T C 10: 121,613,646 (GRCm38) K172R probably damaging Het
Other mutations in Ift140
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00753:Ift140 APN 17 25,055,644 (GRCm38) missense probably damaging 1.00
IGL00966:Ift140 APN 17 25,018,802 (GRCm38) missense probably damaging 1.00
IGL01082:Ift140 APN 17 25,048,455 (GRCm38) missense possibly damaging 0.89
IGL01394:Ift140 APN 17 25,094,702 (GRCm38) missense probably benign 0.02
IGL01816:Ift140 APN 17 25,087,025 (GRCm38) splice site probably null
IGL01994:Ift140 APN 17 25,048,443 (GRCm38) missense probably damaging 1.00
IGL02102:Ift140 APN 17 25,033,130 (GRCm38) missense probably benign 0.03
IGL02207:Ift140 APN 17 25,055,598 (GRCm38) missense probably benign
IGL02493:Ift140 APN 17 25,087,924 (GRCm38) nonsense probably null
IGL02735:Ift140 APN 17 25,034,035 (GRCm38) splice site probably benign
IGL02902:Ift140 APN 17 25,090,762 (GRCm38) missense probably damaging 1.00
IGL03037:Ift140 APN 17 25,092,394 (GRCm38) missense probably benign 0.02
IGL03122:Ift140 APN 17 25,086,910 (GRCm38) missense probably damaging 1.00
IGL03206:Ift140 APN 17 25,092,826 (GRCm38) missense probably damaging 0.98
IGL03271:Ift140 APN 17 25,087,906 (GRCm38) missense probably damaging 1.00
IGL03358:Ift140 APN 17 25,087,984 (GRCm38) missense probably damaging 1.00
PIT4515001:Ift140 UTSW 17 25,086,860 (GRCm38) missense probably damaging 0.98
R0100:Ift140 UTSW 17 25,090,954 (GRCm38) nonsense probably null
R0100:Ift140 UTSW 17 25,090,954 (GRCm38) nonsense probably null
R0197:Ift140 UTSW 17 25,090,933 (GRCm38) missense probably benign 0.09
R0238:Ift140 UTSW 17 25,045,523 (GRCm38) nonsense probably null
R0238:Ift140 UTSW 17 25,045,523 (GRCm38) nonsense probably null
R0239:Ift140 UTSW 17 25,045,523 (GRCm38) nonsense probably null
R0239:Ift140 UTSW 17 25,045,523 (GRCm38) nonsense probably null
R0355:Ift140 UTSW 17 25,048,435 (GRCm38) nonsense probably null
R0399:Ift140 UTSW 17 25,050,340 (GRCm38) missense possibly damaging 0.77
R0574:Ift140 UTSW 17 25,051,760 (GRCm38) splice site probably null
R0610:Ift140 UTSW 17 25,035,803 (GRCm38) missense probably benign 0.06
R0701:Ift140 UTSW 17 25,090,933 (GRCm38) missense probably benign 0.09
R0883:Ift140 UTSW 17 25,090,933 (GRCm38) missense probably benign 0.09
R0900:Ift140 UTSW 17 25,035,812 (GRCm38) missense probably benign 0.22
R1167:Ift140 UTSW 17 25,035,745 (GRCm38) missense probably benign 0.01
R1295:Ift140 UTSW 17 25,088,933 (GRCm38) critical splice donor site probably null
R1588:Ift140 UTSW 17 25,087,985 (GRCm38) missense probably damaging 1.00
R1619:Ift140 UTSW 17 25,088,865 (GRCm38) missense probably damaging 1.00
R1637:Ift140 UTSW 17 25,025,634 (GRCm38) missense probably benign 0.40
R1854:Ift140 UTSW 17 25,035,839 (GRCm38) missense probably benign 0.05
R2397:Ift140 UTSW 17 25,020,736 (GRCm38) missense probably damaging 1.00
R2510:Ift140 UTSW 17 25,036,308 (GRCm38) missense probably benign 0.02
R2918:Ift140 UTSW 17 25,035,831 (GRCm38) missense possibly damaging 0.66
R3433:Ift140 UTSW 17 25,036,308 (GRCm38) missense probably benign 0.02
R3878:Ift140 UTSW 17 25,028,944 (GRCm38) missense probably benign 0.25
R4559:Ift140 UTSW 17 25,090,767 (GRCm38) missense probably damaging 0.97
R4670:Ift140 UTSW 17 25,098,961 (GRCm38) unclassified probably benign
R4711:Ift140 UTSW 17 25,094,717 (GRCm38) splice site probably null
R4934:Ift140 UTSW 17 25,048,488 (GRCm38) missense probably benign
R4949:Ift140 UTSW 17 25,094,665 (GRCm38) missense probably benign 0.06
R4982:Ift140 UTSW 17 25,036,994 (GRCm38) missense probably damaging 0.99
R5099:Ift140 UTSW 17 25,090,700 (GRCm38) missense probably damaging 1.00
R5223:Ift140 UTSW 17 25,035,812 (GRCm38) missense probably benign 0.22
R5268:Ift140 UTSW 17 25,020,627 (GRCm38) missense possibly damaging 0.48
R5423:Ift140 UTSW 17 25,033,085 (GRCm38) missense probably damaging 0.96
R5480:Ift140 UTSW 17 25,020,576 (GRCm38) missense probably damaging 1.00
R5655:Ift140 UTSW 17 25,045,064 (GRCm38) missense probably damaging 1.00
R5756:Ift140 UTSW 17 25,028,813 (GRCm38) missense possibly damaging 0.62
R5837:Ift140 UTSW 17 25,089,540 (GRCm38) missense probably damaging 1.00
R5907:Ift140 UTSW 17 25,092,371 (GRCm38) missense probably benign 0.02
R5966:Ift140 UTSW 17 25,094,761 (GRCm38) nonsense probably null
R6000:Ift140 UTSW 17 25,036,960 (GRCm38) missense probably benign 0.00
R6046:Ift140 UTSW 17 25,055,589 (GRCm38) missense probably benign 0.00
R6050:Ift140 UTSW 17 25,091,005 (GRCm38) missense probably damaging 1.00
R6103:Ift140 UTSW 17 25,093,126 (GRCm38) missense probably damaging 1.00
R6239:Ift140 UTSW 17 25,028,972 (GRCm38) missense probably benign 0.26
R6287:Ift140 UTSW 17 25,050,434 (GRCm38) missense probably benign
R6539:Ift140 UTSW 17 25,094,669 (GRCm38) missense possibly damaging 0.87
R6656:Ift140 UTSW 17 25,032,173 (GRCm38) missense probably damaging 0.96
R6723:Ift140 UTSW 17 25,033,116 (GRCm38) missense probably benign 0.08
R6749:Ift140 UTSW 17 25,098,916 (GRCm38) missense probably damaging 0.99
R6892:Ift140 UTSW 17 25,020,546 (GRCm38) missense possibly damaging 0.95
R7151:Ift140 UTSW 17 25,055,725 (GRCm38) missense probably damaging 1.00
R7235:Ift140 UTSW 17 25,020,645 (GRCm38) missense possibly damaging 0.88
R7424:Ift140 UTSW 17 25,037,036 (GRCm38) missense possibly damaging 0.81
R7552:Ift140 UTSW 17 25,033,115 (GRCm38) missense probably benign 0.02
R7560:Ift140 UTSW 17 25,092,341 (GRCm38) missense probably benign 0.28
R7660:Ift140 UTSW 17 25,051,824 (GRCm38) missense probably damaging 1.00
R8105:Ift140 UTSW 17 25,036,975 (GRCm38) missense probably benign 0.01
R8415:Ift140 UTSW 17 25,092,915 (GRCm38) missense probably damaging 0.99
R8437:Ift140 UTSW 17 25,094,677 (GRCm38) missense probably damaging 0.99
R8747:Ift140 UTSW 17 25,035,835 (GRCm38) missense probably benign
R8932:Ift140 UTSW 17 25,086,888 (GRCm38) missense probably benign 0.03
R9226:Ift140 UTSW 17 25,098,865 (GRCm38) missense probably benign 0.00
R9347:Ift140 UTSW 17 25,094,779 (GRCm38) missense probably benign 0.00
R9451:Ift140 UTSW 17 25,033,951 (GRCm38) missense probably benign 0.33
R9456:Ift140 UTSW 17 25,035,784 (GRCm38) missense probably benign 0.03
R9782:Ift140 UTSW 17 25,045,177 (GRCm38) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- TACACATGCCGACACCATGG -3'
(R):5'- ACCTACACTGAGTAACTGATAAGAC -3'

Sequencing Primer
(F):5'- ATGCCGACACCATGGACAGG -3'
(R):5'- CAAGCTAATTATGTTCTCCGTTTGG -3'
Posted On 2017-02-15