|Institutional Source||Beutler Lab|
|Gene Name||SEM1, 26S proteasome complex subunit|
|Synonyms||Shfdg1, Shfg, Shfm1, DSS1|
|Is this an essential gene?||Probably non essential (E-score: 0.184)|
|Stock #||R3615 (G1)|
|Chromosomal Location||6557294-6578663 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 6578520 bp|
|Amino Acid Change||Leucine to Proline at position 12 (L12P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000040741 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000041111]|
|Predicted Effect||probably damaging
AA Change: L12P
PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
AA Change: L12P
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.4007|
|Coding Region Coverage||
|Validation Efficiency||98% (40/41)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene has been localized within the split hand/split foot malformation locus SHFM1 at chromosome 7. It has been proposed to be a candidate gene for the autosomal dominant form of the heterogeneous limb developmental disorder split hand/split foot malformation type 1. In addition, it has been shown to directly interact with BRCA2. It also may play a role in the completion of the cell cycle. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Sem1||
(F):5'- CGGGTTGAAGTTAAAGGGCC -3'
(R):5'- ACGGGAGGACCTACTACAAC -3'
(F):5'- TTGAAGTTAAAGGGCCACAAGC -3'
(R):5'- TCTGGGAGGACCTTCGCTG -3'