Incidental Mutation 'R7424:Ift140'
ID 575954
Institutional Source Beutler Lab
Gene Symbol Ift140
Ensembl Gene ENSMUSG00000024169
Gene Name intraflagellar transport 140
Synonyms Tce5, Wdtc2
MMRRC Submission 045502-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7424 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 25016091-25099495 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 25037036 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 504 (V504A)
Ref Sequence ENSEMBL: ENSMUSP00000024983 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024983] [ENSMUST00000137386] [ENSMUST00000156945]
AlphaFold E9PY46
Predicted Effect possibly damaging
Transcript: ENSMUST00000024983
AA Change: V504A

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000024983
Gene: ENSMUSG00000024169
AA Change: V504A

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: V504A

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000116163
Gene: ENSMUSG00000024169
AA Change: V504A

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 probably benign
Transcript: ENSMUST00000156945
SMART Domains Protein: ENSMUSP00000116689
Gene: ENSMUSG00000024169

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
Meta Mutation Damage Score 0.1623 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 99% (76/77)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430548M08Rik C T 8: 120,145,545 (GRCm38) R71C probably damaging Het
Aanat A T 11: 116,595,629 (GRCm38) probably benign Het
Ahrr G T 13: 74,257,545 (GRCm38) S91* probably null Het
Ampd1 A T 3: 103,088,442 (GRCm38) N223Y probably benign Het
Ankar T G 1: 72,680,058 (GRCm38) N544T probably damaging Het
Ankk1 A G 9: 49,418,750 (GRCm38) S302P possibly damaging Het
Bcr T C 10: 75,157,100 (GRCm38) V809A probably benign Het
Bpifb2 A G 2: 153,890,540 (GRCm38) N353S possibly damaging Het
Cyth1 A T 11: 118,184,009 (GRCm38) probably null Het
Ddx5 A T 11: 106,782,180 (GRCm38) N506K probably benign Het
Dnaja1 A T 4: 40,730,244 (GRCm38) I239F probably benign Het
Ethe1 C T 7: 24,606,251 (GRCm38) T141I probably damaging Het
Fam160b2 T C 14: 70,594,007 (GRCm38) H29R probably damaging Het
Gdap2 A T 3: 100,202,066 (GRCm38) I36F unknown Het
Gm13030 A T 4: 138,871,266 (GRCm38) D115E unknown Het
Gm13103 C T 4: 143,853,209 (GRCm38) P455S probably benign Het
Gm17019 A T 5: 15,029,372 (GRCm38) L227Q probably damaging Het
Gm9195 T A 14: 72,435,777 (GRCm38) E2517D possibly damaging Het
Gramd2 T A 9: 59,708,071 (GRCm38) V39D possibly damaging Het
Hmcn1 C T 1: 150,630,266 (GRCm38) W3836* probably null Het
Hspa14 C T 2: 3,489,041 (GRCm38) D494N possibly damaging Het
Ifit2 A G 19: 34,573,198 (GRCm38) N46S probably benign Het
Ifna6 A T 4: 88,827,807 (GRCm38) E131V possibly damaging Het
Irgc1 T C 7: 24,432,228 (GRCm38) N388S probably damaging Het
Itgal T A 7: 127,317,365 (GRCm38) V743E probably benign Het
Itih5 T C 2: 10,245,637 (GRCm38) S716P probably damaging Het
Kcnab1 A T 3: 65,266,503 (GRCm38) K78N possibly damaging Het
Kif1a A T 1: 93,054,317 (GRCm38) V787E possibly damaging Het
Krt15 A T 11: 100,135,560 (GRCm38) V100E possibly damaging Het
Krt39 A T 11: 99,518,091 (GRCm38) V293E probably damaging Het
Lrrn4 A G 2: 132,869,743 (GRCm38) F720S possibly damaging Het
Map2 G A 1: 66,414,824 (GRCm38) A958T possibly damaging Het
Map3k9 A G 12: 81,724,097 (GRCm38) S906P probably benign Het
Mdc1 T C 17: 35,853,309 (GRCm38) S1250P probably benign Het
Meltf G A 16: 31,884,946 (GRCm38) V164I probably damaging Het
Mtap T G 4: 89,179,462 (GRCm38) probably null Het
Mtus1 C A 8: 41,022,406 (GRCm38) V184F probably damaging Het
Myh1 A T 11: 67,213,663 (GRCm38) D1015V probably damaging Het
Ndrg1 T C 15: 66,944,938 (GRCm38) probably null Het
Nkd1 G T 8: 88,585,175 (GRCm38) V130L probably benign Het
Nsfl1c A G 2: 151,500,753 (GRCm38) D81G probably benign Het
Nt5c1b T A 12: 10,381,391 (GRCm38) probably null Het
Nucb1 T C 7: 45,498,778 (GRCm38) K204E possibly damaging Het
Nwd1 T G 8: 72,675,173 (GRCm38) M774R possibly damaging Het
Olfr165 A T 16: 19,407,194 (GRCm38) V274E probably damaging Het
Olfr262 A T 19: 12,240,954 (GRCm38) S236T possibly damaging Het
Olfr654 G C 7: 104,588,700 (GRCm38) E299Q probably damaging Het
Pan3 T A 5: 147,536,272 (GRCm38) probably null Het
Pcdh15 A T 10: 74,506,485 (GRCm38) T1135S probably benign Het
Pfas A G 11: 69,000,092 (GRCm38) I331T probably damaging Het
Plxna2 T A 1: 194,806,339 (GRCm38) I1641N probably damaging Het
Ptar1 A T 19: 23,718,101 (GRCm38) R311W probably damaging Het
Ranbp2 T G 10: 58,479,194 (GRCm38) M1912R probably damaging Het
Rbm12 A G 2: 156,097,303 (GRCm38) F350L possibly damaging Het
Sdhaf1 T C 7: 30,322,043 (GRCm38) D96G probably benign Het
Serpinb6b T A 13: 32,968,667 (GRCm38) M53K probably damaging Het
Sh2d6 A T 6: 72,517,164 (GRCm38) L147Q probably benign Het
Slc19a2 T A 1: 164,260,876 (GRCm38) C298S probably benign Het
Son AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG 16: 91,660,334 (GRCm38) probably benign Het
St8sia2 T A 7: 73,960,902 (GRCm38) Q211L possibly damaging Het
Sult2a2 T C 7: 13,734,897 (GRCm38) I96T possibly damaging Het
Tab2 G T 10: 7,907,483 (GRCm38) H678Q probably damaging Het
Tnfaip6 A G 2: 52,038,216 (GRCm38) E14G probably benign Het
Trip11 A T 12: 101,885,198 (GRCm38) L869H probably damaging Het
Tslp T C 18: 32,819,080 (GRCm38) Y133H not run Het
Ttn A G 2: 76,932,143 (GRCm38) V3374A unknown Het
Ttn T C 2: 76,740,990 (GRCm38) I26520V probably damaging Het
Tubgcp2 T A 7: 140,007,924 (GRCm38) I263F possibly damaging Het
Uaca A G 9: 60,870,110 (GRCm38) E593G probably damaging Het
Unc13b C T 4: 43,172,235 (GRCm38) T1021I unknown Het
Ush1c T A 7: 46,225,555 (GRCm38) I131F probably benign Het
Usp24 C A 4: 106,379,107 (GRCm38) D997E probably benign Het
Usp54 T C 14: 20,577,040 (GRCm38) T517A probably benign Het
Vmn1r151 A T 7: 22,499,080 (GRCm38) M200K possibly damaging Het
Vmn2r43 T C 7: 8,255,329 (GRCm38) D295G probably damaging Het
Vmn2r70 G A 7: 85,563,868 (GRCm38) P444S probably damaging Het
Vmn2r85 G T 10: 130,418,980 (GRCm38) P612T probably damaging Het
Vps13d A T 4: 145,148,747 (GRCm38) V1736D Het
Zbtb11 A T 16: 55,990,487 (GRCm38) H336L probably benign 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
R5894:Ift140 UTSW 17 25,033,919 (GRCm38) missense possibly damaging 0.92
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
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'- GGTAAGATGGTCTCATGGAGTTACC -3'
(R):5'- AACTGACACGCATTTCCTCC -3'

Sequencing Primer
(F):5'- GTTACCATAAGGACCAGGCCG -3'
(R):5'- TCCCCTGGACAGTCAAGGTC -3'
Posted On 2019-10-07