Incidental Mutation 'R6777:Terf2'
| ID |
531337 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Terf2
|
| Ensembl Gene |
ENSMUSG00000031921 |
| Gene Name |
telomeric repeat binding factor 2 |
| Synonyms |
TRF2 |
| MMRRC Submission |
044893-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6777 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
107796032-107823179 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 107797169 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 434
(V434A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000065586
(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 |
possibly damaging
Transcript: ENSMUST00000068388
AA Change: V434A
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000065586
Gene: ENSMUSG00000031921
AA Change: V434A
| 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 |
possibly damaging
Transcript: ENSMUST00000068421
AA Change: V499A
PolyPhen 2
Score 0.628 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000068948
Gene: ENSMUSG00000031921
AA Change: V499A
| 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: V498A
PolyPhen 2
Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000118759
Gene: ENSMUSG00000031921
AA Change: V498A
| 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 |
|
| Meta Mutation Damage Score |
0.0631 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 96.1%
|
| Validation Efficiency |
100% (32/32) |
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900092C05Rik |
A |
T |
7: 12,246,756 (GRCm39) |
L45F |
probably benign |
Het |
| Adam7 |
T |
C |
14: 68,762,784 (GRCm39) |
Y147C |
probably damaging |
Het |
| Adss2 |
A |
T |
1: 177,603,902 (GRCm39) |
|
probably null |
Het |
| Atp2c1 |
T |
A |
9: 105,295,799 (GRCm39) |
I812L |
possibly damaging |
Het |
| Capn2 |
A |
G |
1: 182,297,742 (GRCm39) |
|
probably null |
Het |
| Crybg3 |
A |
G |
16: 59,378,678 (GRCm39) |
|
probably benign |
Het |
| Cux1 |
C |
G |
5: 136,594,422 (GRCm39) |
|
probably benign |
Het |
| Dkk2 |
T |
A |
3: 131,879,572 (GRCm39) |
C84S |
probably damaging |
Het |
| Eml3 |
T |
C |
19: 8,914,086 (GRCm39) |
V128A |
probably benign |
Het |
| Fzr1 |
A |
G |
10: 81,206,327 (GRCm39) |
Y148H |
probably damaging |
Het |
| Galnt9 |
G |
A |
5: 110,768,465 (GRCm39) |
R587H |
probably damaging |
Het |
| Ganc |
A |
G |
2: 120,274,630 (GRCm39) |
T584A |
probably damaging |
Het |
| Gldc |
T |
C |
19: 30,110,912 (GRCm39) |
T564A |
probably damaging |
Het |
| Gm49359 |
A |
T |
13: 62,603,006 (GRCm39) |
C65S |
probably benign |
Het |
| Hspa12a |
A |
G |
19: 58,810,519 (GRCm39) |
Y175H |
probably benign |
Het |
| Ly6g |
A |
G |
15: 75,030,431 (GRCm39) |
D60G |
probably benign |
Het |
| Or11j4 |
A |
T |
14: 50,631,115 (GRCm39) |
M301L |
probably damaging |
Het |
| Pex1 |
T |
A |
5: 3,672,358 (GRCm39) |
C694S |
probably benign |
Het |
| Pkd1l3 |
T |
C |
8: 110,353,446 (GRCm39) |
F676L |
probably benign |
Het |
| Pla2g2c |
T |
C |
4: 138,470,976 (GRCm39) |
V119A |
probably benign |
Het |
| Ralgps2 |
A |
G |
1: 156,715,515 (GRCm39) |
|
probably null |
Het |
| Rbp3 |
C |
A |
14: 33,676,230 (GRCm39) |
H59Q |
probably benign |
Het |
| Serpina3c |
T |
C |
12: 104,118,069 (GRCm39) |
K90E |
probably benign |
Het |
| Slc24a3 |
A |
G |
2: 145,482,202 (GRCm39) |
Y620C |
probably damaging |
Het |
| Smg1 |
C |
A |
7: 117,788,340 (GRCm39) |
|
probably benign |
Het |
| Srp68 |
A |
T |
11: 116,153,730 (GRCm39) |
V198E |
probably damaging |
Het |
| Ssx2ip |
C |
T |
3: 146,144,476 (GRCm39) |
T580M |
possibly damaging |
Het |
| Tmem242 |
G |
A |
17: 5,483,830 (GRCm39) |
P71S |
probably damaging |
Het |
| Tmprss13 |
C |
T |
9: 45,247,399 (GRCm39) |
R254* |
probably null |
Het |
| Trgv3 |
A |
G |
13: 19,427,450 (GRCm39) |
Y111C |
probably damaging |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACCGTGTTCTTGTGAGTCC -3'
(R):5'- CCAGACTCTCAGTGTTGACTTACTC -3'
Sequencing Primer
(F):5'- TGAGTCCTGTGGCTACGAAAC -3'
(R):5'- AGACAGTGTCTCCGTGTAGCTC -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation