Incidental Mutation 'R0615:Terf2'
| ID |
55023 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Terf2
|
| Ensembl Gene |
ENSMUSG00000031921 |
| Gene Name |
telomeric repeat binding factor 2 |
| Synonyms |
TRF2 |
| MMRRC Submission |
038804-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0615 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
107796032-107823179 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 107809622 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 232
(T232I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118759
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068388]
[ENSMUST00000068421]
[ENSMUST00000116425]
[ENSMUST00000133925]
|
| AlphaFold |
O35144 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068388
AA Change: T232I
PolyPhen 2
Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000065586
Gene: ENSMUSG00000031921
AA Change: T232I
| 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: T232I
PolyPhen 2
Score 0.351 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000068948
Gene: ENSMUSG00000031921
AA Change: T232I
| 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
AA Change: T232I
PolyPhen 2
Score 0.351 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000112126
Gene: ENSMUSG00000031921
AA Change: T232I
| 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: T232I
PolyPhen 2
Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000118759
Gene: ENSMUSG00000031921
AA Change: T232I
| 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: ENSMUST00000136178
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141205
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000142616
AA Change: T125I
|
| SMART Domains |
Protein: ENSMUSP00000118589
Gene: ENSMUSG00000031921
AA Change: T125I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TRF
|
1 |
178 |
2.6e-34 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155834
|
| Meta Mutation Damage Score |
0.0599 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.4%
- 20x: 94.8%
|
| Validation Efficiency |
100% (57/57) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933411K16Rik |
T |
C |
19: 42,040,962 (GRCm39) |
I31T |
possibly damaging |
Het |
| Abca13 |
A |
G |
11: 9,206,197 (GRCm39) |
I166V |
probably damaging |
Het |
| Acaa2 |
G |
T |
18: 74,931,517 (GRCm39) |
V238L |
probably benign |
Het |
| Ahsg |
A |
T |
16: 22,717,805 (GRCm39) |
I296F |
possibly damaging |
Het |
| Aspm |
T |
A |
1: 139,415,027 (GRCm39) |
V1436D |
probably damaging |
Het |
| Ate1 |
A |
T |
7: 130,115,563 (GRCm39) |
|
probably benign |
Het |
| Atosa |
T |
A |
9: 74,911,570 (GRCm39) |
Y14N |
probably damaging |
Het |
| Atp1a4 |
A |
T |
1: 172,059,627 (GRCm39) |
|
probably benign |
Het |
| Aurkc |
A |
T |
7: 7,005,402 (GRCm39) |
I223L |
possibly damaging |
Het |
| Bckdha |
G |
T |
7: 25,341,210 (GRCm39) |
D50E |
probably benign |
Het |
| Brf2 |
C |
T |
8: 27,614,059 (GRCm39) |
E376K |
probably benign |
Het |
| Cdk9 |
C |
A |
2: 32,599,813 (GRCm39) |
L141F |
possibly damaging |
Het |
| Cgn |
A |
C |
3: 94,678,024 (GRCm39) |
|
probably benign |
Het |
| Clcn1 |
G |
A |
6: 42,282,509 (GRCm39) |
V526I |
probably damaging |
Het |
| Cnot2 |
A |
G |
10: 116,334,141 (GRCm39) |
V343A |
possibly damaging |
Het |
| Commd2 |
A |
T |
3: 57,554,116 (GRCm39) |
V195D |
possibly damaging |
Het |
| Cubn |
C |
T |
2: 13,365,063 (GRCm39) |
|
probably null |
Het |
| Eif2ak4 |
C |
T |
2: 118,266,666 (GRCm39) |
T729M |
probably damaging |
Het |
| Elac1 |
A |
T |
18: 73,871,954 (GRCm39) |
V347E |
probably damaging |
Het |
| Fam209 |
T |
C |
2: 172,316,053 (GRCm39) |
S143P |
probably benign |
Het |
| Fam20c |
G |
A |
5: 138,793,241 (GRCm39) |
R454Q |
probably damaging |
Het |
| Faxc |
C |
T |
4: 21,958,608 (GRCm39) |
S255L |
probably benign |
Het |
| Fem1al |
C |
A |
11: 29,774,515 (GRCm39) |
R314L |
probably damaging |
Het |
| Foxj1 |
T |
C |
11: 116,224,908 (GRCm39) |
D153G |
possibly damaging |
Het |
| Gm6605 |
C |
A |
7: 38,147,699 (GRCm39) |
|
noncoding transcript |
Het |
| Lmo7 |
T |
A |
14: 102,114,295 (GRCm39) |
Y12* |
probably null |
Het |
| Matn3 |
T |
G |
12: 9,013,594 (GRCm39) |
C425W |
probably damaging |
Het |
| Mmd2 |
A |
T |
5: 142,550,668 (GRCm39) |
M190K |
probably benign |
Het |
| Morn2 |
A |
T |
17: 80,603,026 (GRCm39) |
T102S |
probably damaging |
Het |
| Nr3c2 |
A |
C |
8: 77,912,518 (GRCm39) |
T710P |
probably benign |
Het |
| Nrros |
C |
A |
16: 31,962,903 (GRCm39) |
L343F |
probably damaging |
Het |
| Ntrk2 |
C |
T |
13: 59,276,000 (GRCm39) |
Q767* |
probably null |
Het |
| Or2h2c |
G |
C |
17: 37,422,347 (GRCm39) |
L176V |
probably benign |
Het |
| Or4k47 |
C |
T |
2: 111,452,264 (GRCm39) |
D52N |
possibly damaging |
Het |
| Plekhf2 |
C |
T |
4: 10,991,330 (GRCm39) |
R4H |
probably benign |
Het |
| Ppox |
A |
G |
1: 171,105,387 (GRCm39) |
|
probably benign |
Het |
| Qprt |
T |
A |
7: 126,708,248 (GRCm39) |
D61V |
probably damaging |
Het |
| Reln |
A |
G |
5: 22,215,148 (GRCm39) |
V1101A |
probably benign |
Het |
| Sbno1 |
T |
C |
5: 124,548,202 (GRCm39) |
N124D |
probably damaging |
Het |
| Scx |
C |
T |
15: 76,342,295 (GRCm39) |
P165L |
probably benign |
Het |
| Sema6d |
T |
C |
2: 124,496,055 (GRCm39) |
|
probably benign |
Het |
| Serf2 |
T |
C |
2: 121,281,336 (GRCm39) |
F92L |
probably benign |
Het |
| Synpo2 |
A |
T |
3: 122,910,936 (GRCm39) |
N236K |
probably damaging |
Het |
| Tbc1d32 |
C |
A |
10: 56,100,736 (GRCm39) |
D81Y |
probably benign |
Het |
| Tpd52l2 |
A |
G |
2: 181,143,744 (GRCm39) |
E50G |
probably damaging |
Het |
| Tprn |
A |
G |
2: 25,154,210 (GRCm39) |
E504G |
probably damaging |
Het |
| Tufm |
G |
T |
7: 126,086,654 (GRCm39) |
R12L |
probably benign |
Het |
| Vmn2r8 |
A |
G |
5: 108,947,195 (GRCm39) |
F519S |
probably damaging |
Het |
| Vwa8 |
T |
C |
14: 79,145,590 (GRCm39) |
V89A |
probably benign |
Het |
| Wnt3 |
T |
C |
11: 103,703,207 (GRCm39) |
I230T |
possibly damaging |
Het |
| Zan |
A |
T |
5: 137,466,693 (GRCm39) |
F388Y |
probably damaging |
Het |
| Zfp474 |
C |
T |
18: 52,771,421 (GRCm39) |
L25F |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTGACGAGATGCTGGGTATTTAAAGG -3'
(R):5'- TAGACCTGAAATTCCGAGGCCCTG -3'
Sequencing Primer
(F):5'- gcctggaccgcactatg -3'
(R):5'- ACACGAATGGTTCCTCCTAGTG -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation