|Institutional Source||Beutler Lab|
|Gene Name||intraflagellar transport 140|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R8437 (G1)|
|Chromosomal Location||25016091-25099495 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 25094677 bp (GRCm38)|
|Amino Acid Change||Cysteine to Serine at position 1361 (C1361S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000024983 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000024983] [ENSMUST00000024987] [ENSMUST00000115181] [ENSMUST00000137386]|
AA Change: C1361S
PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
AA Change: C1361S
|Coding Region Coverage||
|Validation Efficiency||100% (50/50)|
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||
|Other mutations in Ift140||
(F):5'- GTCACCATTCTAGGCAATTGTCC -3'
(R):5'- GCTTGTCACCTCAAAGGAAATAG -3'
(F):5'- TTCTAGGCAATTGTCCACAGAC -3'
(R):5'- GTATAGTAAGTCTTTCAAGAACCAGG -3'