Incidental Mutation 'IGL01398:Telo2'
ID79532
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Telo2
Ensembl Gene ENSMUSG00000024170
Gene Nametelomere maintenance 2
Synonyms1200003M09Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01398
Quality Score
Status
Chromosome17
Chromosomal Location25099570-25115967 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 25105774 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 477 (D477E)
Ref Sequence ENSEMBL: ENSMUSP00000110835 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024987] [ENSMUST00000115181]
Predicted Effect probably benign
Transcript: ENSMUST00000024987
AA Change: D477E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000024987
Gene: ENSMUSG00000024170
AA Change: D477E

DomainStartEndE-ValueType
Pfam:Telomere_reg-2 513 621 3.8e-38 PFAM
low complexity region 771 782 N/A INTRINSIC
low complexity region 816 837 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000115181
AA Change: D477E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000110835
Gene: ENSMUSG00000024170
AA Change: D477E

DomainStartEndE-ValueType
Pfam:Telomere_reg-2 513 621 3.8e-38 PFAM
low complexity region 771 782 N/A INTRINSIC
low complexity region 816 837 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143390
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152460
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155607
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155632
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156698
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that functions as an S-phase checkpoint protein in the cell cycle. The protein may also play a role in DNA repair.[provided by RefSeq, Mar 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality prior to E13.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap1 T C 11: 69,881,722 D521G probably damaging Het
Apol11b G A 15: 77,638,019 T26M probably damaging Het
Best2 T A 8: 85,009,327 Y326F probably damaging Het
Clca1 T C 3: 145,016,751 T287A possibly damaging Het
Cyp26a1 C T 19: 37,697,947 T13I probably damaging Het
Dhcr7 T C 7: 143,841,319 S188P probably damaging Het
Eml3 T G 19: 8,934,234 probably benign Het
Faf1 A T 4: 109,736,596 I124F probably damaging Het
Fkbp9 T A 6: 56,860,805 probably benign Het
Foxq1 G A 13: 31,559,451 D179N probably damaging Het
Frem1 C T 4: 82,950,362 V1443M possibly damaging Het
Gpnmb T A 6: 49,050,431 M363K probably benign Het
Grm3 T C 5: 9,485,762 probably benign Het
Ints3 A G 3: 90,392,823 L929P probably damaging Het
Myh11 T A 16: 14,202,100 I1823F probably damaging Het
Nudt9 T C 5: 104,065,113 *351Q probably null Het
Olfr1085 A T 2: 86,657,688 F257I probably damaging Het
Olfr1212 C T 2: 88,958,849 P128S probably damaging Het
Olfr319 A T 11: 58,701,767 H22L probably benign Het
Pgr15l C T X: 97,078,179 T392I probably benign Het
Sdk1 C A 5: 141,937,577 L318I probably benign Het
Sult1c1 C A 17: 53,962,152 V279L possibly damaging Het
Tek T C 4: 94,849,777 I688T probably damaging Het
Ubr3 T A 2: 69,959,653 Y884N probably damaging Het
Upf3a C A 8: 13,786,221 H92Q probably damaging Het
Vmn2r51 C T 7: 10,102,414 E147K probably benign Het
Vps54 A G 11: 21,295,403 probably benign Het
Zdhhc14 T C 17: 5,712,463 I214T possibly damaging Het
Other mutations in Telo2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01340:Telo2 APN 17 25100129 splice site probably benign
IGL01878:Telo2 APN 17 25101358 missense probably benign 0.19
IGL02728:Telo2 APN 17 25104654 missense probably damaging 1.00
R0669:Telo2 UTSW 17 25105823 missense probably benign 0.01
R0671:Telo2 UTSW 17 25113165 missense probably benign 0.00
R1783:Telo2 UTSW 17 25102738 splice site probably null
R1869:Telo2 UTSW 17 25114994 missense probably benign 0.32
R1988:Telo2 UTSW 17 25101668 missense probably benign 0.04
R2018:Telo2 UTSW 17 25105408 missense probably damaging 1.00
R2167:Telo2 UTSW 17 25110818 missense probably benign
R2219:Telo2 UTSW 17 25103699 missense probably benign 0.00
R3421:Telo2 UTSW 17 25110752 missense probably damaging 0.99
R3880:Telo2 UTSW 17 25106833 missense probably damaging 1.00
R4190:Telo2 UTSW 17 25102013 missense probably benign 0.00
R4299:Telo2 UTSW 17 25115256 missense possibly damaging 0.94
R4574:Telo2 UTSW 17 25101673 missense probably damaging 1.00
R4600:Telo2 UTSW 17 25105148 missense possibly damaging 0.79
R6010:Telo2 UTSW 17 25104878 missense possibly damaging 0.79
R6185:Telo2 UTSW 17 25102040 missense probably benign 0.29
R6513:Telo2 UTSW 17 25101412 missense probably damaging 1.00
R7352:Telo2 UTSW 17 25102069 missense probably damaging 1.00
R7538:Telo2 UTSW 17 25110821 missense probably benign 0.08
R8347:Telo2 UTSW 17 25104637 nonsense probably null
R8754:Telo2 UTSW 17 25102067 missense probably damaging 1.00
Posted On2013-11-05