|Institutional Source||Beutler Lab|
|Gene Name||triple functional domain (PTPRF interacting)|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R4620 (G1)|
|Chromosomal Location||27730651-28025848 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 27871171 bp|
|Amino Acid Change||Histidine to Leucine at position 620 (H620L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000154653 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000090247] [ENSMUST00000227337]|
|Predicted Effect||probably benign
AA Change: H679L
PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
AA Change: H679L
|Predicted Effect||probably damaging
AA Change: H620L
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.5341|
|Coding Region Coverage||
|Validation Efficiency||99% (80/81)|
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'- ACTCATGTGACAAGGACAGCC -3'
(R):5'- TATCCTCCCGTGCAGAACAC -3'
(F):5'- GAAGGCAGGAAGGCATCTTC -3'
(R):5'- ACGTACACAAACGCAGATAAACTG -3'