Incidental Mutation 'R2084:Sde2'
ID230179
Institutional Source Beutler Lab
Gene Symbol Sde2
Ensembl Gene ENSMUSG00000038806
Gene NameSDE2 telomere maintenance homolog (S. pombe)
SynonymsBC031781
MMRRC Submission 040089-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.956) question?
Stock #R2084 (G1)
Quality Score225
Status Validated
Chromosome1
Chromosomal Location180851127-180868113 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 180862633 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 306 (E306G)
Ref Sequence ENSEMBL: ENSMUSP00000037890 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038091]
Predicted Effect probably damaging
Transcript: ENSMUST00000038091
AA Change: E306G

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000037890
Gene: ENSMUSG00000038806
AA Change: E306G

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
Meta Mutation Damage Score 0.0876 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 100% (53/53)
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930452B06Rik T C 14: 8,558,171 D138G probably damaging Het
9530053A07Rik G A 7: 28,157,535 V2103M probably damaging Het
Ankrd36 C T 11: 5,662,378 Q1237* probably null Het
Aph1c T G 9: 66,819,297 R258S probably damaging Het
Arfgap3 T A 15: 83,334,566 N102I probably damaging Het
Astn1 T C 1: 158,472,408 V106A probably damaging Het
BC005537 G T 13: 24,812,715 probably null Het
Card10 G A 15: 78,792,971 T412M possibly damaging Het
Cars T C 7: 143,587,182 I126M probably benign Het
Col11a1 C T 3: 114,158,142 R1074C probably damaging Het
Cpped1 T C 16: 11,828,501 D153G probably damaging Het
Cyp2j11 T A 4: 96,339,201 I193F probably damaging Het
Dnm2 T C 9: 21,500,371 probably null Het
Efemp1 A G 11: 28,915,763 D288G probably damaging Het
Espl1 T C 15: 102,296,851 probably null Het
Fcrl5 T C 3: 87,444,230 F262L probably benign Het
Gh G A 11: 106,301,132 P84L probably damaging Het
Gm10267 T C 18: 44,157,330 R37G probably benign Het
Gm13089 T A 4: 143,699,350 T8S probably damaging Het
Hmgxb3 C T 18: 61,155,023 probably benign Het
Ifit2 T C 19: 34,573,350 W97R probably damaging Het
Ift81 T G 5: 122,567,347 K491Q probably benign Het
Ints8 A G 4: 11,230,377 V488A probably benign Het
Krba1 T A 6: 48,414,568 L797Q probably damaging Het
Krr1 T C 10: 111,976,785 V100A probably damaging Het
Nav1 C T 1: 135,607,420 probably benign Het
Nos1 C A 5: 117,943,245 Q1205K probably damaging Het
Nup85 A T 11: 115,568,691 D125V possibly damaging Het
Olfr993 T C 2: 85,414,615 E88G probably benign Het
Pclo T G 5: 14,682,148 S3555A probably benign Het
Pdzrn3 T C 6: 101,154,295 I473V probably benign Het
Polr1a A G 6: 71,950,809 E848G possibly damaging Het
Pop1 T C 15: 34,508,598 probably benign Het
Prpf3 C T 3: 95,848,989 E117K probably benign Het
Psmg3 C T 5: 139,823,989 V101M probably benign Het
Rexo1 G A 10: 80,561,266 S52L probably benign Het
Ryk C T 9: 102,875,772 T210M probably damaging Het
Sec24c A G 14: 20,691,279 Q658R probably benign Het
Sgsm1 G A 5: 113,285,400 T183I probably damaging Het
Skint7 T A 4: 111,980,178 V51E probably damaging Het
Slc6a5 T A 7: 49,948,254 M622K probably benign Het
Slco1a5 T C 6: 142,234,711 H655R probably benign Het
Slco1c1 T A 6: 141,559,852 Y452* probably null Het
Spn T C 7: 127,137,038 E99G probably benign Het
Ssc5d A G 7: 4,937,012 I789V probably benign Het
Taok2 G A 7: 126,870,191 T1155I probably benign Het
Tet2 T C 3: 133,487,767 Q302R possibly damaging Het
Trmt1l A G 1: 151,440,854 T189A probably damaging Het
Tubal3 T C 13: 3,928,192 I36T possibly damaging Het
Vmn2r71 A T 7: 85,618,737 Y133F probably benign Het
Vps11 G T 9: 44,353,261 H673N probably benign Het
Zc3h12a C T 4: 125,120,009 S354N probably benign Het
Zfp2 A G 11: 50,900,962 S85P probably benign 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
IGL02435:Sde2 APN 1 180866152 missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- GGATGACAGTGAGGATGCTC -3'
(R):5'- TTTCCCTCCAGATTAGCAGCAG -3'

Sequencing Primer
(F):5'- ATGCTCCTGGGACTTCGGAG -3'
(R):5'- TAGCAGCAGGGACACTTTTC -3'
Posted On2014-09-18