Incidental Mutation 'IGL02435:Sde2'
ID 293241
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sde2
Ensembl Gene ENSMUSG00000038806
Gene Name SDE2 telomere maintenance homolog (S. pombe)
Synonyms BC031781
Accession Numbers
Essential gene? Probably essential (E-score: 0.943) question?
Stock # IGL02435
Quality Score
Status
Chromosome 1
Chromosomal Location 180678716-180695678 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 180693717 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 402 (K402N)
Ref Sequence ENSEMBL: ENSMUSP00000037890 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038091]
AlphaFold Q8K1J5
Predicted Effect probably damaging
Transcript: ENSMUST00000038091
AA Change: K402N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000037890
Gene: ENSMUSG00000038806
AA Change: K402N

DomainStartEndE-ValueType
Pfam:Telomere_Sde2 30 167 3.2e-26 PFAM
low complexity region 224 241 N/A INTRINSIC
Pfam:Telomere_Sde2_2 382 441 1.3e-31 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194948
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Amph A G 13: 19,323,333 (GRCm39) probably benign Het
Ankrd12 G T 17: 66,294,151 (GRCm39) S427R probably damaging Het
Atp4a A G 7: 30,416,482 (GRCm39) T420A probably benign Het
Braf C T 6: 39,623,700 (GRCm39) S414N probably benign Het
C1rl T C 6: 124,485,832 (GRCm39) L401P probably damaging Het
Ecpas A G 4: 58,830,325 (GRCm39) probably benign Het
Elmo1 A T 13: 20,773,826 (GRCm39) D612V probably damaging Het
Fbxo15 T C 18: 84,977,351 (GRCm39) S88P probably damaging Het
Glrx3 A G 7: 137,063,125 (GRCm39) N132S possibly damaging Het
Hamp G T 7: 30,643,324 (GRCm39) Q29K probably benign Het
Igfbp2 G A 1: 72,891,245 (GRCm39) R281Q probably damaging Het
Itih3 C T 14: 30,637,711 (GRCm39) A483T probably damaging Het
Mrc1 C T 2: 14,253,671 (GRCm39) Q231* probably null Het
Nif3l1 A G 1: 58,487,020 (GRCm39) T69A possibly damaging Het
Ntrk1 A G 3: 87,696,039 (GRCm39) F157S probably benign Het
Or2ag1b A G 7: 106,288,710 (GRCm39) V76A probably benign Het
Or4a72 A G 2: 89,405,890 (GRCm39) F60S probably damaging Het
Or5b97 A T 19: 12,878,391 (GRCm39) I251N probably damaging Het
Pck2 T C 14: 55,781,847 (GRCm39) probably benign Het
Pdgfrb T C 18: 61,197,998 (GRCm39) probably null Het
Ric8b A G 10: 84,815,940 (GRCm39) N194S probably benign Het
Rlbp1 A G 7: 79,031,414 (GRCm39) F105L probably damaging Het
Slc13a3 T C 2: 165,250,860 (GRCm39) H461R possibly damaging Het
Spag17 A T 3: 99,889,760 (GRCm39) I210F possibly damaging Het
Szt2 G A 4: 118,248,020 (GRCm39) R735W probably damaging Het
Tspan6 T C X: 132,793,493 (GRCm39) Y186C probably benign Het
Ugt8a A G 3: 125,660,969 (GRCm39) S508P probably benign Het
Zfp217 T C 2: 169,961,373 (GRCm39) D318G possibly damaging Het
Other mutations in Sde2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00585:Sde2 APN 1 180,683,383 (GRCm39) missense possibly damaging 0.77
IGL02178:Sde2 APN 1 180,678,796 (GRCm39) missense possibly damaging 0.89
R0499:Sde2 UTSW 1 180,689,992 (GRCm39) missense probably benign 0.05
R1891:Sde2 UTSW 1 180,687,573 (GRCm39) missense probably benign 0.34
R1894:Sde2 UTSW 1 180,687,573 (GRCm39) missense probably benign 0.34
R2084:Sde2 UTSW 1 180,690,198 (GRCm39) missense probably damaging 0.98
R2099:Sde2 UTSW 1 180,693,713 (GRCm39) missense probably damaging 1.00
R3498:Sde2 UTSW 1 180,685,750 (GRCm39) missense probably damaging 1.00
R6177:Sde2 UTSW 1 180,685,784 (GRCm39) missense probably damaging 0.99
R6269:Sde2 UTSW 1 180,683,371 (GRCm39) missense probably benign 0.06
R6996:Sde2 UTSW 1 180,678,754 (GRCm39) missense probably benign
R7058:Sde2 UTSW 1 180,693,827 (GRCm39) missense probably damaging 1.00
R7197:Sde2 UTSW 1 180,678,843 (GRCm39) missense probably benign 0.01
Posted On 2015-04-16