Incidental Mutation 'IGL03368:Terf2'
ID420162
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Terf2
Ensembl Gene ENSMUSG00000031921
Gene Nametelomeric repeat binding factor 2
SynonymsTRF2
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03368
Quality Score
Status
Chromosome8
Chromosomal Location107069400-107096547 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 107070549 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 494 (E494G)
Ref Sequence ENSEMBL: ENSMUSP00000118759 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034393] [ENSMUST00000068388] [ENSMUST00000068421] [ENSMUST00000116425] [ENSMUST00000133925]
Predicted Effect probably benign
Transcript: ENSMUST00000034393
SMART Domains Protein: ENSMUSP00000034393
Gene: ENSMUSG00000031919

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
EMP24_GP25L 43 228 1.87e-39 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000068388
AA Change: E430G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000065586
Gene: ENSMUSG00000031921
AA Change: E430G

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
low complexity region 31 42 N/A INTRINSIC
low complexity region 47 75 N/A INTRINSIC
low complexity region 77 96 N/A INTRINSIC
Pfam:TRF 97 297 7.5e-39 PFAM
PDB:3K6G|F 318 356 2e-12 PDB
SANT 422 473 1.71e-12 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000068421
AA Change: E495G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000068948
Gene: ENSMUSG00000031921
AA Change: E495G

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
low complexity region 31 42 N/A INTRINSIC
low complexity region 47 75 N/A INTRINSIC
low complexity region 77 96 N/A INTRINSIC
Pfam:TRF 97 296 3e-38 PFAM
Pfam:TERF2_RBM 320 360 5.1e-22 PFAM
SANT 487 538 1.71e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000116425
SMART Domains Protein: ENSMUSP00000112126
Gene: ENSMUSG00000031921

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
low complexity region 31 42 N/A INTRINSIC
low complexity region 47 75 N/A INTRINSIC
low complexity region 77 96 N/A INTRINSIC
Pfam:TRF 97 297 1.5e-38 PFAM
PDB:3K6G|F 319 359 4e-14 PDB
Predicted Effect probably damaging
Transcript: ENSMUST00000133925
AA Change: E494G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000118759
Gene: ENSMUSG00000031921
AA Change: E494G

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
low complexity region 31 42 N/A INTRINSIC
low complexity region 47 75 N/A INTRINSIC
low complexity region 77 96 N/A INTRINSIC
Pfam:TRF 97 297 9.9e-39 PFAM
PDB:3K6G|F 318 358 3e-14 PDB
SANT 486 537 1.71e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000142616
SMART Domains Protein: ENSMUSP00000118589
Gene: ENSMUSG00000031921

DomainStartEndE-ValueType
Pfam:TRF 1 178 2.6e-34 PFAM
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 telomere specific protein, TERF2, which is a component of the telomere nucleoprotein complex. This protein is present at telomeres in metaphase of the cell cycle, is a second negative regulator of telomere length and plays a key role in the protective activity of telomeres. While having similar telomere binding activity and domain organization, TERF2 differs from TERF1 in that its N terminus is basic rather than acidic. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display embryonic lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik T C 15: 8,222,373 V1914A probably benign Het
A530053G22Rik T C 6: 60,403,545 noncoding transcript Het
Abca5 A G 11: 110,313,522 probably benign Het
Agxt2 T A 15: 10,388,170 C278* probably null Het
Ankar A G 1: 72,675,813 L384P probably damaging Het
Ankrd55 T C 13: 112,318,556 probably benign Het
Ap5m1 A G 14: 49,081,136 probably benign Het
Arhgap18 C T 10: 26,772,693 S37F possibly damaging Het
Btnl10 G A 11: 58,919,386 V118I possibly damaging Het
Chst11 C A 10: 83,092,146 P66T probably benign Het
Cited2 C A 10: 17,724,196 P84Q possibly damaging Het
D430042O09Rik T C 7: 125,868,858 probably benign Het
Dpy19l4 T A 4: 11,290,253 I302F possibly damaging Het
Ece2 A G 16: 20,644,158 E640G possibly damaging Het
Fam184b T C 5: 45,531,824 D890G possibly damaging Het
Fam227b A T 2: 126,119,063 D215E probably damaging Het
Foxp2 A G 6: 15,394,718 K139R probably damaging Het
Gle1 T C 2: 29,943,793 C401R probably damaging Het
Gp2 A T 7: 119,452,874 C206S probably damaging Het
Hdgfl2 G T 17: 56,079,746 probably benign Het
Hmcn1 T C 1: 150,663,872 N2956S probably damaging Het
Ifi209 A G 1: 173,642,491 Q215R possibly damaging Het
Il20rb C T 9: 100,459,121 probably benign Het
Kif26b A C 1: 178,916,208 S1290R probably damaging Het
Mical1 A G 10: 41,479,629 I156M probably damaging Het
Nbas C T 12: 13,328,451 A613V probably benign Het
Nbea C T 3: 56,079,930 V380M probably damaging Het
Nutf2 T C 8: 105,875,600 F14S probably damaging Het
Olfr1260 A T 2: 89,977,789 I4L probably benign Het
Olfr582 T A 7: 103,041,765 H95Q possibly damaging Het
Parp1 A G 1: 180,580,622 E236G probably benign Het
Podnl1 G A 8: 84,132,189 V548I probably benign Het
Ptcd2 T A 13: 99,330,069 probably benign Het
Pygl T C 12: 70,191,152 Q704R probably benign Het
Scaper A T 9: 55,656,027 S492T possibly damaging Het
Sephs1 G A 2: 4,889,269 D94N possibly damaging Het
Slc22a29 A C 19: 8,207,262 probably null Het
Slc22a8 G T 19: 8,609,119 probably benign Het
Slfn5 A G 11: 82,956,385 D32G possibly damaging Het
Sphkap T A 1: 83,275,676 T1451S probably benign Het
Srp54a A C 12: 55,091,266 E63A probably null Het
Stap1 T A 5: 86,090,968 I165N probably damaging Het
Trak1 C A 9: 121,367,122 L7I possibly damaging Het
Twnk T C 19: 45,010,492 V557A probably damaging Het
U2af2 T A 7: 5,067,264 probably benign Het
Ube2j1 T A 4: 33,038,317 I75N probably damaging Het
Ubr5 A G 15: 37,998,316 V1643A probably damaging Het
Vsx2 A G 12: 84,570,300 T120A probably benign Het
Other mutations in Terf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02823:Terf2 APN 8 107072625 missense possibly damaging 0.89
IGL02879:Terf2 APN 8 107076697 missense probably benign 0.02
PIT1430001:Terf2 UTSW 8 107096302 missense probably damaging 0.98
R0454:Terf2 UTSW 8 107096210 nonsense probably null
R0615:Terf2 UTSW 8 107082990 missense possibly damaging 0.90
R1983:Terf2 UTSW 8 107083008 missense probably damaging 0.99
R3051:Terf2 UTSW 8 107079384 missense possibly damaging 0.88
R3053:Terf2 UTSW 8 107079384 missense possibly damaging 0.88
R4210:Terf2 UTSW 8 107079448 missense probably damaging 1.00
R4782:Terf2 UTSW 8 107076675 missense probably benign 0.00
R4799:Terf2 UTSW 8 107076675 missense probably benign 0.00
R4994:Terf2 UTSW 8 107076478 intron probably benign
R6414:Terf2 UTSW 8 107076854 missense probably benign 0.01
R6777:Terf2 UTSW 8 107070537 missense possibly damaging 0.95
R7315:Terf2 UTSW 8 107081217 missense probably benign 0.03
R7481:Terf2 UTSW 8 107072721 critical splice donor site probably null
R8165:Terf2 UTSW 8 107083024 missense possibly damaging 0.83
T0722:Terf2 UTSW 8 107076674 missense probably benign
Z1088:Terf2 UTSW 8 107081223 missense probably damaging 1.00
Z1177:Terf2 UTSW 8 107096295 missense probably damaging 0.98
Posted On2016-08-02