Incidental Mutation 'R1365:Sem1'
ID 155998
Institutional Source Beutler Lab
Gene Symbol Sem1
Ensembl Gene ENSMUSG00000042541
Gene Name SEM1, 26S proteasome complex subunit
Synonyms DSS1, Shfm1, Shfdg1, Shfg
MMRRC Submission 039430-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.184) question?
Stock # R1365 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 6558275-6578658 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 6560501 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 26 (D26G)
Ref Sequence ENSEMBL: ENSMUSP00000040741 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041111]
AlphaFold P60897
Predicted Effect possibly damaging
Transcript: ENSMUST00000041111
AA Change: D26G

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000040741
Gene: ENSMUSG00000042541
AA Change: D26G

DomainStartEndE-ValueType
DSS1_SEM1 5 62 1.43e-26 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.6%
Validation Efficiency
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
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef28 G A 13: 98,211,632 (GRCm39) T117M probably damaging Het
Asb15 T C 6: 24,567,269 (GRCm39) I530T possibly damaging Het
Brca1 T C 11: 101,392,822 (GRCm39) N1673S probably benign Het
Cd48 A T 1: 171,527,129 (GRCm39) Q185L probably damaging Het
Cog2 A T 8: 125,267,713 (GRCm39) K343I probably damaging Het
Dars2 G A 1: 160,872,564 (GRCm39) Q546* probably null Het
Dst A G 1: 34,227,275 (GRCm39) K1623E probably benign Het
Epn1 G A 7: 5,096,369 (GRCm39) R221Q probably benign Het
Gtf2b T C 3: 142,477,227 (GRCm39) I33T probably damaging Het
Hsf4 G T 8: 105,997,726 (GRCm39) R156L probably damaging Het
Itch A G 2: 155,054,951 (GRCm39) N752D probably benign Het
Kif28 G A 1: 179,567,552 (GRCm39) Q73* probably null Het
Mamdc4 T C 2: 25,456,036 (GRCm39) Y790C probably damaging Het
Med1 T C 11: 98,046,821 (GRCm39) probably benign Het
Mfsd13a C T 19: 46,354,943 (GRCm39) T40I probably benign Het
Nf1 A G 11: 79,438,711 (GRCm39) probably null Het
Oxct2b G A 4: 123,011,162 (GRCm39) V361I probably benign Het
Pid1 T C 1: 84,015,862 (GRCm39) M168V probably damaging Het
Plk1 A G 7: 121,767,852 (GRCm39) D419G probably damaging Het
Rasl10b G A 11: 83,308,665 (GRCm39) probably null Het
Rps24 A G 14: 24,541,830 (GRCm39) T6A probably damaging Het
Sin3a C T 9: 57,032,487 (GRCm39) R1141* probably null Het
Slf1 C T 13: 77,274,490 (GRCm39) A68T probably damaging Het
Trmo A G 4: 46,380,278 (GRCm39) S364P probably damaging Het
Uchl3 A G 14: 101,891,528 (GRCm39) E10G probably damaging Het
Usp14 C T 18: 10,000,490 (GRCm39) probably null Het
Vmn1r203 T A 13: 22,708,756 (GRCm39) M179K probably benign Het
Vps13a A G 19: 16,596,810 (GRCm39) Y3103H probably damaging Het
Zfp804a T C 2: 82,087,590 (GRCm39) L473P probably benign Het
Zfp979 A T 4: 147,697,681 (GRCm39) Y343N probably benign Het
Other mutations in Sem1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R3615:Sem1 UTSW 6 6,578,520 (GRCm39) missense probably damaging 0.98
R3616:Sem1 UTSW 6 6,578,520 (GRCm39) missense probably damaging 0.98
R6710:Sem1 UTSW 6 6,578,497 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- ccagaacaggcaaaGCAGGTGAA -3'
(R):5'- tgtatggaGGGGATGAGAACAAGAGAAC -3'

Sequencing Primer
(F):5'- ggcaaaGCAGGTGAACTTGTG -3'
(R):5'- TGAGAACAAGAGAACAAATGTTGC -3'
Posted On 2014-02-11