Incidental Mutation 'IGL02823:Terf2'
| ID |
361102 |
| 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 # |
IGL02823
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
107796032-107823179 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 107799257 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 389
(N389S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000065586
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068388]
[ENSMUST00000068421]
[ENSMUST00000116425]
[ENSMUST00000133925]
|
| AlphaFold |
O35144 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000068388
AA Change: N389S
PolyPhen 2
Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000065586
Gene: ENSMUSG00000031921
AA Change: N389S
| 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 benign
Transcript: ENSMUST00000068421
AA Change: N454S
PolyPhen 2
Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000068948
Gene: ENSMUSG00000031921
AA Change: N454S
| 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 |
possibly damaging
Transcript: ENSMUST00000133925
AA Change: N453S
PolyPhen 2
Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000118759
Gene: ENSMUSG00000031921
AA Change: N453S
| 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 |
noncoding transcript
Transcript: ENSMUST00000141205
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
T |
C |
13: 77,410,074 (GRCm39) |
S194P |
probably damaging |
Het |
| Abca7 |
T |
A |
10: 79,844,656 (GRCm39) |
D1488E |
probably damaging |
Het |
| Abhd18 |
A |
G |
3: 40,887,953 (GRCm39) |
|
probably benign |
Het |
| Atp6ap1l |
A |
G |
13: 91,047,644 (GRCm39) |
V56A |
probably benign |
Het |
| Atrip |
A |
G |
9: 108,890,246 (GRCm39) |
Y631H |
probably damaging |
Het |
| C9orf72 |
A |
T |
4: 35,213,031 (GRCm39) |
C215S |
probably damaging |
Het |
| Dst |
A |
T |
1: 34,231,164 (GRCm39) |
H3097L |
possibly damaging |
Het |
| Ear1 |
G |
T |
14: 44,056,502 (GRCm39) |
S122* |
probably null |
Het |
| Eif2a |
G |
T |
3: 58,456,092 (GRCm39) |
A364S |
probably benign |
Het |
| Eps8l2 |
A |
T |
7: 140,921,988 (GRCm39) |
D22V |
probably damaging |
Het |
| Fndc7 |
A |
G |
3: 108,776,487 (GRCm39) |
F432S |
probably damaging |
Het |
| Gemin5 |
T |
C |
11: 58,058,531 (GRCm39) |
|
probably benign |
Het |
| Grxcr2 |
T |
C |
18: 42,125,046 (GRCm39) |
K121E |
probably damaging |
Het |
| Gucy1a2 |
T |
C |
9: 3,894,656 (GRCm39) |
I713T |
possibly damaging |
Het |
| Hs3st1 |
A |
G |
5: 39,772,100 (GRCm39) |
L181P |
probably damaging |
Het |
| Ksr1 |
C |
A |
11: 78,912,229 (GRCm39) |
V627L |
probably benign |
Het |
| Lama2 |
T |
C |
10: 26,877,141 (GRCm39) |
N2682D |
probably damaging |
Het |
| Lratd2 |
T |
C |
15: 60,694,972 (GRCm39) |
D258G |
probably damaging |
Het |
| Map3k19 |
G |
T |
1: 127,750,001 (GRCm39) |
H1117N |
probably benign |
Het |
| Mdc1 |
C |
T |
17: 36,163,815 (GRCm39) |
A1121V |
probably damaging |
Het |
| Nlrp1a |
C |
T |
11: 70,983,249 (GRCm39) |
S1239N |
probably damaging |
Het |
| Or2w3 |
T |
C |
11: 58,556,793 (GRCm39) |
M136T |
possibly damaging |
Het |
| Prkra |
G |
T |
2: 76,460,768 (GRCm39) |
A310E |
probably damaging |
Het |
| Prl2c1 |
T |
C |
13: 28,040,416 (GRCm39) |
|
probably benign |
Het |
| Prl7a2 |
T |
C |
13: 27,846,734 (GRCm39) |
Y93C |
possibly damaging |
Het |
| Prob1 |
A |
T |
18: 35,785,800 (GRCm39) |
V818E |
possibly damaging |
Het |
| Rbbp8 |
A |
G |
18: 11,865,270 (GRCm39) |
S720G |
possibly damaging |
Het |
| Rexo4 |
T |
C |
2: 26,852,489 (GRCm39) |
T149A |
probably benign |
Het |
| Slc39a2 |
T |
A |
14: 52,132,869 (GRCm39) |
Y271N |
probably damaging |
Het |
| Sprr2d |
T |
A |
3: 92,247,734 (GRCm39) |
C58* |
probably null |
Het |
| Srebf2 |
G |
A |
15: 82,083,975 (GRCm39) |
G965D |
possibly damaging |
Het |
| Tcof1 |
T |
C |
18: 60,949,120 (GRCm39) |
E1265G |
probably benign |
Het |
| Vsig10l |
T |
C |
7: 43,115,888 (GRCm39) |
S410P |
probably damaging |
Het |
| Vwa3b |
A |
T |
1: 37,225,985 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Terf2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02879:Terf2
|
APN |
8 |
107,803,329 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03368:Terf2
|
APN |
8 |
107,797,181 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2015-12-18 |
Incidental Mutation