|List |< first << previous [record 38 of 43] next >> last >||
|Institutional Source||Beutler Lab|
|Gene Name||triple functional domain (PTPRF interacting)|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R6387 (G1)|
|Chromosomal Location||27730651-28025848 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 27752739 bp|
|Amino Acid Change||Phenylalanine to Leucine at position 1026 (F1026L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000154309 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000090247] [ENSMUST00000226644]|
|Predicted Effect||possibly damaging
AA Change: F2170L
PolyPhen 2 Score 0.726 (Sensitivity: 0.86; Specificity: 0.92)
AA Change: F2170L
|Predicted Effect||probably damaging
AA Change: F1026L
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|Predicted Effect||probably benign
|Coding Region Coverage||
|Validation Efficiency||98% (42/43)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a large protein that functions as a GDP to GTP exchange factor. This protein promotes the reorganization of the actin cytoskeleton, thereby playing a role in cell migration and growth. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
PHENOTYPE: Homozygous mutant mice die during late embryonic development or shortly after birth. They exhibit abnormal skeletal myogenesis and display aberrant organization within the hippocampus and olfactory bulb. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Trio||
(F):5'- TGACAGATATGTGTGCTGGCAC -3'
(R):5'- TGCCTGGAGCTAGGAATTAATTC -3'
(F):5'- TGCTGGCACATGAAGCTC -3'
(R):5'- CCTGGAGCTAGGAATTAATTCATCAC -3'