|Institutional Source||Beutler Lab|
|Gene Name||tripartite motif-containing 71|
|Synonyms||mLin41, 636931, Lin41, 2610206G21Rik, LOC382112, lin-41, mlin-41|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R2409 (G1)|
|Chromosomal Location||114507133-114564369 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 114513713 bp|
|Amino Acid Change||Aspartic acid to Glutamic Acid at position 500 (D500E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000107447 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000111816] [ENSMUST00000180393]|
|Predicted Effect||possibly damaging
AA Change: D500E
PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
AA Change: D500E
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.0763|
|Coding Region Coverage||
|Validation Efficiency||100% (32/32)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an E3 ubiquitin-protein ligase that binds with miRNAs and maintains the growth and upkeep of embryonic stem cells. This gene also is involved in the G1-S phase transition of the cell cycle. [provided by RefSeq, Dec 2015]
PHENOTYPE: Homozygous gene trap mutations of this gene result in failure of cranial neural tube closure and embryonic lethality. Homozygotes for a gene trap allele exhibit exencephaly, abnormal nasal process and facial prominence, reduced brain size, and embryonic or fetal lethality. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Trim71||
(F):5'- AAGGGGCTGTTCTCTATATGC -3'
(R):5'- TGCAGGAGCTCAAGACCATC -3'
(F):5'- GCTGATTGTACAATGTCACCGAC -3'
(R):5'- CCCAAGAAGATGACCGCATTATGTTC -3'