Incidental Mutation 'IGL03368:Terf2'
ID |
420162 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Terf2
|
Ensembl Gene |
ENSMUSG00000031921 |
Gene Name |
telomeric repeat binding factor 2 |
Synonyms |
TRF2 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL03368
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
107796032-107823179 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 107797181 bp (GRCm39)
|
Zygosity |
Heterozygous |
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]
|
AlphaFold |
O35144 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034393
|
SMART Domains |
Protein: ENSMUSP00000034393 Gene: ENSMUSG00000031919
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A530053G22Rik |
T |
C |
6: 60,380,530 (GRCm39) |
|
noncoding transcript |
Het |
Abca5 |
A |
G |
11: 110,204,348 (GRCm39) |
|
probably benign |
Het |
Agxt2 |
T |
A |
15: 10,388,256 (GRCm39) |
C278* |
probably null |
Het |
Ankar |
A |
G |
1: 72,714,972 (GRCm39) |
L384P |
probably damaging |
Het |
Ankrd55 |
T |
C |
13: 112,455,090 (GRCm39) |
|
probably benign |
Het |
Ap5m1 |
A |
G |
14: 49,318,593 (GRCm39) |
|
probably benign |
Het |
Arhgap18 |
C |
T |
10: 26,648,689 (GRCm39) |
S37F |
possibly damaging |
Het |
Btnl10 |
G |
A |
11: 58,810,212 (GRCm39) |
V118I |
possibly damaging |
Het |
Chst11 |
C |
A |
10: 82,927,980 (GRCm39) |
P66T |
probably benign |
Het |
Cited2 |
C |
A |
10: 17,599,944 (GRCm39) |
P84Q |
possibly damaging |
Het |
Cplane1 |
T |
C |
15: 8,251,857 (GRCm39) |
V1914A |
probably benign |
Het |
Dpy19l4 |
T |
A |
4: 11,290,253 (GRCm39) |
I302F |
possibly damaging |
Het |
Ece2 |
A |
G |
16: 20,462,908 (GRCm39) |
E640G |
possibly damaging |
Het |
Fam184b |
T |
C |
5: 45,689,166 (GRCm39) |
D890G |
possibly damaging |
Het |
Fam227b |
A |
T |
2: 125,960,983 (GRCm39) |
D215E |
probably damaging |
Het |
Foxp2 |
A |
G |
6: 15,394,717 (GRCm39) |
K139R |
probably damaging |
Het |
Gle1 |
T |
C |
2: 29,833,805 (GRCm39) |
C401R |
probably damaging |
Het |
Gp2 |
A |
T |
7: 119,052,097 (GRCm39) |
C206S |
probably damaging |
Het |
Hdgfl2 |
G |
T |
17: 56,386,746 (GRCm39) |
|
probably benign |
Het |
Hmcn1 |
T |
C |
1: 150,539,623 (GRCm39) |
N2956S |
probably damaging |
Het |
Ifi209 |
A |
G |
1: 173,470,057 (GRCm39) |
Q215R |
possibly damaging |
Het |
Il20rb |
C |
T |
9: 100,341,174 (GRCm39) |
|
probably benign |
Het |
Katnip |
T |
C |
7: 125,468,030 (GRCm39) |
|
probably benign |
Het |
Kif26b |
A |
C |
1: 178,743,773 (GRCm39) |
S1290R |
probably damaging |
Het |
Mical1 |
A |
G |
10: 41,355,625 (GRCm39) |
I156M |
probably damaging |
Het |
Nbas |
C |
T |
12: 13,378,452 (GRCm39) |
A613V |
probably benign |
Het |
Nbea |
C |
T |
3: 55,987,351 (GRCm39) |
V380M |
probably damaging |
Het |
Nutf2 |
T |
C |
8: 106,602,232 (GRCm39) |
F14S |
probably damaging |
Het |
Or4c35 |
A |
T |
2: 89,808,133 (GRCm39) |
I4L |
probably benign |
Het |
Or52r1b |
T |
A |
7: 102,690,972 (GRCm39) |
H95Q |
possibly damaging |
Het |
Parp1 |
A |
G |
1: 180,408,187 (GRCm39) |
E236G |
probably benign |
Het |
Podnl1 |
G |
A |
8: 84,858,818 (GRCm39) |
V548I |
probably benign |
Het |
Ptcd2 |
T |
A |
13: 99,466,577 (GRCm39) |
|
probably benign |
Het |
Pygl |
T |
C |
12: 70,237,926 (GRCm39) |
Q704R |
probably benign |
Het |
Scaper |
A |
T |
9: 55,563,311 (GRCm39) |
S492T |
possibly damaging |
Het |
Sephs1 |
G |
A |
2: 4,894,080 (GRCm39) |
D94N |
possibly damaging |
Het |
Slc22a29 |
A |
C |
19: 8,184,626 (GRCm39) |
|
probably null |
Het |
Slc22a8 |
G |
T |
19: 8,586,483 (GRCm39) |
|
probably benign |
Het |
Slfn5 |
A |
G |
11: 82,847,211 (GRCm39) |
D32G |
possibly damaging |
Het |
Sphkap |
T |
A |
1: 83,253,397 (GRCm39) |
T1451S |
probably benign |
Het |
Srp54a |
A |
C |
12: 55,138,051 (GRCm39) |
E63A |
probably null |
Het |
Stap1 |
T |
A |
5: 86,238,827 (GRCm39) |
I165N |
probably damaging |
Het |
Trak1 |
C |
A |
9: 121,196,188 (GRCm39) |
L7I |
possibly damaging |
Het |
Twnk |
T |
C |
19: 44,998,931 (GRCm39) |
V557A |
probably damaging |
Het |
U2af2 |
T |
A |
7: 5,070,263 (GRCm39) |
|
probably benign |
Het |
Ube2j1 |
T |
A |
4: 33,038,317 (GRCm39) |
I75N |
probably damaging |
Het |
Ubr5 |
A |
G |
15: 37,998,560 (GRCm39) |
V1643A |
probably damaging |
Het |
Vsx2 |
A |
G |
12: 84,617,074 (GRCm39) |
T120A |
probably benign |
Het |
|
Other mutations in Terf2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02823:Terf2
|
APN |
8 |
107,799,257 (GRCm39) |
missense |
possibly damaging |
0.89 |
IGL02879:Terf2
|
APN |
8 |
107,803,329 (GRCm39) |
missense |
probably benign |
0.02 |
PIT1430001:Terf2
|
UTSW |
8 |
107,822,934 (GRCm39) |
missense |
probably damaging |
0.98 |
R0454:Terf2
|
UTSW |
8 |
107,822,842 (GRCm39) |
nonsense |
probably null |
|
R0615:Terf2
|
UTSW |
8 |
107,809,622 (GRCm39) |
missense |
possibly damaging |
0.90 |
R1983:Terf2
|
UTSW |
8 |
107,809,640 (GRCm39) |
missense |
probably damaging |
0.99 |
R3051:Terf2
|
UTSW |
8 |
107,806,016 (GRCm39) |
missense |
possibly damaging |
0.88 |
R3053:Terf2
|
UTSW |
8 |
107,806,016 (GRCm39) |
missense |
possibly damaging |
0.88 |
R4210:Terf2
|
UTSW |
8 |
107,806,080 (GRCm39) |
missense |
probably damaging |
1.00 |
R4782:Terf2
|
UTSW |
8 |
107,803,307 (GRCm39) |
missense |
probably benign |
0.00 |
R4799:Terf2
|
UTSW |
8 |
107,803,307 (GRCm39) |
missense |
probably benign |
0.00 |
R4994:Terf2
|
UTSW |
8 |
107,803,110 (GRCm39) |
intron |
probably benign |
|
R6414:Terf2
|
UTSW |
8 |
107,803,486 (GRCm39) |
missense |
probably benign |
0.01 |
R6777:Terf2
|
UTSW |
8 |
107,797,169 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7315:Terf2
|
UTSW |
8 |
107,807,849 (GRCm39) |
missense |
probably benign |
0.03 |
R7481:Terf2
|
UTSW |
8 |
107,799,353 (GRCm39) |
critical splice donor site |
probably null |
|
R8165:Terf2
|
UTSW |
8 |
107,809,656 (GRCm39) |
missense |
possibly damaging |
0.83 |
R8396:Terf2
|
UTSW |
8 |
107,809,613 (GRCm39) |
critical splice donor site |
probably null |
|
R9438:Terf2
|
UTSW |
8 |
107,803,504 (GRCm39) |
missense |
probably benign |
0.45 |
R9688:Terf2
|
UTSW |
8 |
107,821,543 (GRCm39) |
missense |
probably damaging |
1.00 |
T0722:Terf2
|
UTSW |
8 |
107,803,306 (GRCm39) |
missense |
probably benign |
|
Z1088:Terf2
|
UTSW |
8 |
107,807,855 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Terf2
|
UTSW |
8 |
107,822,927 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Posted On |
2016-08-02 |