Incidental Mutation 'IGL03037:Ift140'
ID408746
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ift140
Ensembl Gene ENSMUSG00000024169
Gene Nameintraflagellar transport 140
SynonymsTce5, Wdtc2
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03037
Quality Score
Status
Chromosome17
Chromosomal Location25016091-25099495 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 25092394 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 1188 (S1188P)
Ref Sequence ENSEMBL: ENSMUSP00000116163 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024983] [ENSMUST00000137386]
Predicted Effect probably benign
Transcript: ENSMUST00000024983
AA Change: S1188P

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000024983
Gene: ENSMUSG00000024169
AA Change: S1188P

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: S1188P

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000116163
Gene: ENSMUSG00000024169
AA Change: S1188P

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: ENSMUST00000139300
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140692
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142000
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153895
Coding Region Coverage
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik C A 3: 36,969,207 S2227R probably benign Het
4932438A13Rik T C 3: 36,969,208 S2229P probably damaging Het
Actl11 T C 9: 107,930,095 L539P probably damaging Het
Adam23 A T 1: 63,571,017 Q726L possibly damaging Het
Ago1 T C 4: 126,461,794 E74G probably benign Het
Atp6v1d C A 12: 78,857,348 probably benign Het
Cadm4 T A 7: 24,500,795 L243Q probably damaging Het
Camsap2 C A 1: 136,274,857 L1274F probably damaging Het
Car10 A G 11: 93,100,218 probably benign Het
Catsperd A T 17: 56,641,583 D186V possibly damaging Het
Cdc42bpg A G 19: 6,311,200 Y285C probably damaging Het
Cenpi T A X: 134,349,268 C599S possibly damaging Het
Cln8 A T 8: 14,894,679 probably benign Het
Cnksr1 T C 4: 134,235,106 probably null Het
Ddx5 T C 11: 106,782,104 N532D possibly damaging Het
Dock11 G T X: 36,047,046 probably benign Het
Dock8 A G 19: 25,086,181 E249G probably benign Het
Espnl T C 1: 91,341,921 V393A probably benign Het
Fam160a2 A T 7: 105,379,086 H885Q probably benign Het
Frrs1 T C 3: 116,902,467 probably benign Het
Fstl4 C A 11: 53,168,223 A503D possibly damaging Het
Gda T A 19: 21,434,309 I42L possibly damaging Het
Gprc5d C A 6: 135,116,321 C196F probably damaging Het
Hnrnpa0 A G 13: 58,127,953 F121L probably damaging Het
Hsd3b7 C T 7: 127,801,150 H24Y probably damaging Het
Lyl1 C T 8: 84,702,671 P3L possibly damaging Het
Mcemp1 C A 8: 3,667,055 Y65* probably null Het
Mmp16 C T 4: 17,996,222 P104S probably damaging Het
Mpst C A 15: 78,410,598 R177S probably benign Het
Nek1 A T 8: 61,034,052 T279S probably benign Het
Olfr1201 A G 2: 88,794,955 Y191C probably damaging Het
Olfr357 C T 2: 36,997,548 T246I probably benign Het
Olfr54 A T 11: 51,027,290 Y96F probably damaging Het
Olfr830 T A 9: 18,875,372 I12N probably damaging Het
Pard3 A T 8: 127,306,494 T190S probably benign Het
Pik3r4 A G 9: 105,650,813 D455G probably damaging Het
Piwil4 T C 9: 14,705,012 I756V possibly damaging Het
Pkhd1 A G 1: 20,522,699 L1730P probably benign Het
Pnpla3 T C 15: 84,172,759 I155T probably damaging Het
Prmt8 T C 6: 127,703,977 Y243C possibly damaging Het
Rbfox1 T A 16: 7,292,283 probably benign Het
Rps6ka2 G A 17: 7,254,450 probably null Het
Scaf8 A G 17: 3,190,221 K623E probably damaging Het
Slc26a4 A T 12: 31,531,687 probably benign Het
Slfn8 T A 11: 83,003,252 I854F probably damaging Het
Smarca4 T C 9: 21,632,935 probably benign Het
Sos1 T C 17: 80,420,329 D775G probably damaging Het
Spag17 G A 3: 100,072,170 probably null Het
Spata31d1d T A 13: 59,726,133 E1196V possibly damaging Het
Sqle T A 15: 59,321,397 Y208N probably damaging Het
Tcl1b5 C T 12: 105,179,014 T79M probably benign Het
Tdgf1 C A 9: 110,943,220 W36L probably benign Het
Tenm3 A G 8: 48,298,878 F959L possibly damaging Het
Tnfrsf19 T A 14: 61,024,272 K26I possibly damaging Het
Trappc10 A T 10: 78,199,035 probably benign Het
Trim80 T C 11: 115,441,593 W204R possibly damaging Het
Trpm3 A G 19: 22,889,412 T536A possibly damaging Het
Ttbk1 G A 17: 46,446,330 T1126I probably benign Het
Uaca A G 9: 60,840,865 D37G probably damaging Het
Ube3a T C 7: 59,247,223 probably benign Het
Ubqln2 C T X: 153,499,696 Q415* probably null Het
Ugp2 T A 11: 21,332,540 K151* probably null Het
Wasf1 A G 10: 40,930,658 K99R probably benign Het
Wnt4 C T 4: 137,289,161 T42M possibly damaging Het
Zfp54 T A 17: 21,430,215 D17E probably damaging Het
Other mutations in Ift140
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00753:Ift140 APN 17 25055644 missense probably damaging 1.00
IGL00966:Ift140 APN 17 25018802 missense probably damaging 1.00
IGL01082:Ift140 APN 17 25048455 missense possibly damaging 0.89
IGL01394:Ift140 APN 17 25094702 missense probably benign 0.02
IGL01816:Ift140 APN 17 25087025 splice site probably null
IGL01994:Ift140 APN 17 25048443 missense probably damaging 1.00
IGL02102:Ift140 APN 17 25033130 missense probably benign 0.03
IGL02207:Ift140 APN 17 25055598 missense probably benign
IGL02493:Ift140 APN 17 25087924 nonsense probably null
IGL02735:Ift140 APN 17 25034035 splice site probably benign
IGL02902:Ift140 APN 17 25090762 missense probably damaging 1.00
IGL03122:Ift140 APN 17 25086910 missense probably damaging 1.00
IGL03206:Ift140 APN 17 25092826 missense probably damaging 0.98
IGL03271:Ift140 APN 17 25087906 missense probably damaging 1.00
IGL03358:Ift140 APN 17 25087984 missense probably damaging 1.00
PIT4515001:Ift140 UTSW 17 25086860 missense probably damaging 0.98
R0100:Ift140 UTSW 17 25090954 nonsense probably null
R0100:Ift140 UTSW 17 25090954 nonsense probably null
R0197:Ift140 UTSW 17 25090933 missense probably benign 0.09
R0238:Ift140 UTSW 17 25045523 nonsense probably null
R0238:Ift140 UTSW 17 25045523 nonsense probably null
R0239:Ift140 UTSW 17 25045523 nonsense probably null
R0239:Ift140 UTSW 17 25045523 nonsense probably null
R0355:Ift140 UTSW 17 25048435 nonsense probably null
R0399:Ift140 UTSW 17 25050340 missense possibly damaging 0.77
R0574:Ift140 UTSW 17 25051760 splice site probably null
R0610:Ift140 UTSW 17 25035803 missense probably benign 0.06
R0701:Ift140 UTSW 17 25090933 missense probably benign 0.09
R0883:Ift140 UTSW 17 25090933 missense probably benign 0.09
R0900:Ift140 UTSW 17 25035812 missense probably benign 0.22
R1167:Ift140 UTSW 17 25035745 missense probably benign 0.01
R1295:Ift140 UTSW 17 25088933 critical splice donor site probably null
R1588:Ift140 UTSW 17 25087985 missense probably damaging 1.00
R1619:Ift140 UTSW 17 25088865 missense probably damaging 1.00
R1637:Ift140 UTSW 17 25025634 missense probably benign 0.40
R1854:Ift140 UTSW 17 25035839 missense probably benign 0.05
R2397:Ift140 UTSW 17 25020736 missense probably damaging 1.00
R2510:Ift140 UTSW 17 25036308 missense probably benign 0.02
R2918:Ift140 UTSW 17 25035831 missense possibly damaging 0.66
R3433:Ift140 UTSW 17 25036308 missense probably benign 0.02
R3878:Ift140 UTSW 17 25028944 missense probably benign 0.25
R4559:Ift140 UTSW 17 25090767 missense probably damaging 0.97
R4670:Ift140 UTSW 17 25098961 unclassified probably benign
R4711:Ift140 UTSW 17 25094717 unclassified probably null
R4934:Ift140 UTSW 17 25048488 missense probably benign
R4949:Ift140 UTSW 17 25094665 missense probably benign 0.06
R4982:Ift140 UTSW 17 25036994 missense probably damaging 0.99
R5099:Ift140 UTSW 17 25090700 missense probably damaging 1.00
R5223:Ift140 UTSW 17 25035812 missense probably benign 0.22
R5268:Ift140 UTSW 17 25020627 missense possibly damaging 0.48
R5423:Ift140 UTSW 17 25033085 missense probably damaging 0.96
R5480:Ift140 UTSW 17 25020576 missense probably damaging 1.00
R5655:Ift140 UTSW 17 25045064 missense probably damaging 1.00
R5756:Ift140 UTSW 17 25028813 missense possibly damaging 0.62
R5837:Ift140 UTSW 17 25089540 missense probably damaging 1.00
R5894:Ift140 UTSW 17 25033919 missense possibly damaging 0.92
R5907:Ift140 UTSW 17 25092371 missense probably benign 0.02
R5966:Ift140 UTSW 17 25094761 nonsense probably null
R6000:Ift140 UTSW 17 25036960 missense probably benign 0.00
R6046:Ift140 UTSW 17 25055589 missense probably benign 0.00
R6050:Ift140 UTSW 17 25091005 missense probably damaging 1.00
R6103:Ift140 UTSW 17 25093126 missense probably damaging 1.00
R6239:Ift140 UTSW 17 25028972 missense probably benign 0.26
R6287:Ift140 UTSW 17 25050434 missense probably benign
R6539:Ift140 UTSW 17 25094669 missense possibly damaging 0.87
R6656:Ift140 UTSW 17 25032173 missense probably damaging 0.96
R6723:Ift140 UTSW 17 25033116 missense probably benign 0.08
R6749:Ift140 UTSW 17 25098916 missense probably damaging 0.99
R6892:Ift140 UTSW 17 25020546 missense possibly damaging 0.95
R7151:Ift140 UTSW 17 25055725 missense probably damaging 1.00
R7235:Ift140 UTSW 17 25020645 missense possibly damaging 0.88
Posted On2016-08-02