Incidental Mutation 'IGL02435:Sde2'
ID293241
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sde2
Ensembl Gene ENSMUSG00000038806
Gene NameSDE2 telomere maintenance homolog (S. pombe)
SynonymsBC031781
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.948) question?
Stock #IGL02435
Quality Score
Status
Chromosome1
Chromosomal Location180851127-180868113 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 180866152 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Asparagine at position 402 (K402N)
Ref Sequence ENSEMBL: ENSMUSP00000037890 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038091]
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
AI314180 A G 4: 58,830,325 probably benign Het
Amph A G 13: 19,139,163 probably benign Het
Ankrd12 G T 17: 65,987,156 S427R probably damaging Het
Atp4a A G 7: 30,717,057 T420A probably benign Het
Braf C T 6: 39,646,766 S414N probably benign Het
C1rl T C 6: 124,508,873 L401P probably damaging Het
Elmo1 A T 13: 20,589,656 D612V probably damaging Het
Fbxo15 T C 18: 84,959,226 S88P probably damaging Het
Glrx3 A G 7: 137,461,396 N132S possibly damaging Het
Hamp G T 7: 30,943,899 Q29K probably benign Het
Igfbp2 G A 1: 72,852,086 R281Q probably damaging Het
Itih3 C T 14: 30,915,754 A483T probably damaging Het
Mrc1 C T 2: 14,248,860 Q231* probably null Het
Nif3l1 A G 1: 58,447,861 T69A possibly damaging Het
Ntrk1 A G 3: 87,788,732 F157S probably benign Het
Olfr1245 A G 2: 89,575,546 F60S probably damaging Het
Olfr1447 A T 19: 12,901,027 I251N probably damaging Het
Olfr694 A G 7: 106,689,503 V76A probably benign Het
Pck2 T C 14: 55,544,390 probably benign Het
Pdgfrb T C 18: 61,064,926 probably null Het
Ric8b A G 10: 84,980,076 N194S probably benign Het
Rlbp1 A G 7: 79,381,666 F105L probably damaging Het
Slc13a3 T C 2: 165,408,940 H461R possibly damaging Het
Spag17 A T 3: 99,982,444 I210F possibly damaging Het
Szt2 G A 4: 118,390,823 R735W probably damaging Het
Tspan6 T C X: 133,892,744 Y186C probably benign Het
Ugt8a A G 3: 125,867,320 S508P probably benign Het
Zfp217 T C 2: 170,119,453 D318G possibly damaging Het
Other mutations in Sde2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00585:Sde2 APN 1 180855818 missense possibly damaging 0.77
IGL02178:Sde2 APN 1 180851231 missense possibly damaging 0.89
R0499:Sde2 UTSW 1 180862427 missense probably benign 0.05
R1891:Sde2 UTSW 1 180860008 missense probably benign 0.34
R1894:Sde2 UTSW 1 180860008 missense probably benign 0.34
R2084:Sde2 UTSW 1 180862633 missense probably damaging 0.98
R2099:Sde2 UTSW 1 180866148 missense probably damaging 1.00
R3498:Sde2 UTSW 1 180858185 missense probably damaging 1.00
R6177:Sde2 UTSW 1 180858219 missense probably damaging 0.99
R6269:Sde2 UTSW 1 180855806 missense probably benign 0.06
R6996:Sde2 UTSW 1 180851189 missense probably benign
R7058:Sde2 UTSW 1 180866262 missense probably damaging 1.00
R7197:Sde2 UTSW 1 180851278 missense probably benign 0.01
Posted On2015-04-16