Incidental Mutation 'R4190:Telo2'
| ID |
319935 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Telo2
|
| Ensembl Gene |
ENSMUSG00000024170 |
| Gene Name |
telomere maintenance 2 |
| Synonyms |
1200003M09Rik |
| MMRRC Submission |
041021-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4190 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
25318544-25334941 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 25320987 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 743
(T743A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110835
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024983]
[ENSMUST00000024987]
[ENSMUST00000115181]
|
| AlphaFold |
Q9DC40 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024983
|
| SMART Domains |
Protein: ENSMUSP00000024983
Gene: ENSMUSG00000024169
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
55 |
89 |
6.14e1 |
SMART |
|
WD40
|
91 |
131 |
1.49e0 |
SMART |
|
Blast:WD40
|
252 |
304 |
3e-15 |
BLAST |
|
WD40
|
308 |
352 |
2.76e0 |
SMART |
|
Blast:WD40
|
364 |
405 |
8e-17 |
BLAST |
|
Blast:WD40
|
510 |
547 |
6e-13 |
BLAST |
|
Blast:WD40
|
560 |
603 |
3e-7 |
BLAST |
|
Blast:TPR
|
863 |
896 |
9e-13 |
BLAST |
|
Blast:TPR
|
1011 |
1044 |
1e-13 |
BLAST |
|
Blast:TPR
|
1377 |
1410 |
8e-13 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024987
AA Change: T743A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000024987
Gene: ENSMUSG00000024170
AA Change: T743A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Telomere_reg-2
|
513 |
621 |
3.8e-38 |
PFAM |
|
low complexity region
|
771 |
782 |
N/A |
INTRINSIC |
|
low complexity region
|
816 |
837 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115181
AA Change: T743A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000110835
Gene: ENSMUSG00000024170
AA Change: T743A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Telomere_reg-2
|
513 |
621 |
3.8e-38 |
PFAM |
|
low complexity region
|
771 |
782 |
N/A |
INTRINSIC |
|
low complexity region
|
816 |
837 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143390
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152460
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153895
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155607
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156698
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155632
|
| Meta Mutation Damage Score |
0.0793 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
96% (50/52) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that functions as an S-phase checkpoint protein in the cell cycle. The protein may also play a role in DNA repair.[provided by RefSeq, Mar 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality prior to E13.5. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot4 |
T |
C |
12: 84,089,948 (GRCm39) |
|
probably benign |
Het |
| Adgre1 |
A |
G |
17: 57,709,811 (GRCm39) |
Y156C |
unknown |
Het |
| Ankrd13b |
G |
A |
11: 77,367,201 (GRCm39) |
A21V |
probably damaging |
Het |
| Atf7ip |
T |
C |
6: 136,564,499 (GRCm39) |
V914A |
probably damaging |
Het |
| C230029F24Rik |
AGAAAG |
A |
1: 49,350,088 (GRCm39) |
|
noncoding transcript |
Het |
| Calcr |
T |
A |
6: 3,717,106 (GRCm39) |
D118V |
possibly damaging |
Het |
| Cdc42bpg |
T |
C |
19: 6,371,711 (GRCm39) |
V1330A |
probably damaging |
Het |
| Cfap54 |
T |
C |
10: 92,720,885 (GRCm39) |
E2567G |
unknown |
Het |
| Ctse |
T |
A |
1: 131,590,479 (GRCm39) |
V67D |
probably benign |
Het |
| Ddx19b |
A |
T |
8: 111,737,980 (GRCm39) |
L256Q |
probably damaging |
Het |
| Dipk1b |
T |
C |
2: 26,526,193 (GRCm39) |
Y376H |
probably damaging |
Het |
| Fahd2a |
C |
T |
2: 127,280,486 (GRCm39) |
V156I |
probably benign |
Het |
| Fam185a |
T |
A |
5: 21,630,122 (GRCm39) |
|
probably benign |
Het |
| Fam234a |
A |
T |
17: 26,432,834 (GRCm39) |
L467Q |
probably damaging |
Het |
| Gabra2 |
G |
A |
5: 71,165,341 (GRCm39) |
P210S |
probably benign |
Het |
| Heatr3 |
T |
C |
8: 88,864,888 (GRCm39) |
|
probably benign |
Het |
| Herc2 |
T |
C |
7: 55,772,196 (GRCm39) |
V1125A |
probably benign |
Het |
| Itga11 |
T |
A |
9: 62,639,391 (GRCm39) |
C129S |
probably damaging |
Het |
| Lama2 |
A |
G |
10: 27,142,660 (GRCm39) |
L606P |
probably damaging |
Het |
| Macf1 |
A |
G |
4: 123,366,835 (GRCm39) |
F1077S |
possibly damaging |
Het |
| Mtmr10 |
G |
T |
7: 63,963,934 (GRCm39) |
W223L |
probably benign |
Het |
| Nlgn1 |
T |
A |
3: 25,488,062 (GRCm39) |
T758S |
probably benign |
Het |
| Nr4a1 |
T |
C |
15: 101,171,993 (GRCm39) |
S556P |
probably damaging |
Het |
| Or4c126 |
C |
A |
2: 89,823,918 (GRCm39) |
Y60* |
probably null |
Het |
| Or5p64 |
T |
C |
7: 107,855,330 (GRCm39) |
D5G |
probably benign |
Het |
| Or6c201 |
T |
C |
10: 128,968,836 (GRCm39) |
N267S |
possibly damaging |
Het |
| Or6c33 |
A |
T |
10: 129,853,847 (GRCm39) |
I206F |
probably damaging |
Het |
| Pcdhgb8 |
G |
C |
18: 37,896,594 (GRCm39) |
D555H |
probably damaging |
Het |
| Plscr5 |
T |
C |
9: 92,080,651 (GRCm39) |
S46P |
probably benign |
Het |
| Ppp2r3d |
T |
C |
9: 124,424,123 (GRCm38) |
|
probably benign |
Het |
| Prodh |
C |
T |
16: 17,891,504 (GRCm39) |
V480I |
probably benign |
Het |
| Senp2 |
G |
T |
16: 21,865,417 (GRCm39) |
W580L |
probably damaging |
Het |
| Sorcs3 |
T |
C |
19: 48,737,812 (GRCm39) |
V743A |
possibly damaging |
Het |
| Sp110 |
C |
G |
1: 85,516,839 (GRCm39) |
E219D |
probably damaging |
Het |
| Stab2 |
G |
T |
10: 86,714,808 (GRCm39) |
N119K |
probably damaging |
Het |
| Trav6-1 |
A |
G |
14: 52,875,976 (GRCm39) |
N2S |
probably benign |
Het |
| Trmt44 |
C |
A |
5: 35,732,314 (GRCm39) |
V26L |
possibly damaging |
Het |
| Ttbk1 |
A |
T |
17: 46,790,173 (GRCm39) |
C91S |
probably damaging |
Het |
| Vit |
A |
G |
17: 78,894,255 (GRCm39) |
H219R |
probably benign |
Het |
| Vmn2r84 |
A |
T |
10: 130,227,163 (GRCm39) |
L225* |
probably null |
Het |
| Vmn2r87 |
A |
G |
10: 130,308,556 (GRCm39) |
Y561H |
probably damaging |
Het |
| Yars1 |
T |
A |
4: 129,093,820 (GRCm39) |
C60* |
probably null |
Het |
| Zfp202 |
T |
C |
9: 40,122,633 (GRCm39) |
V465A |
probably benign |
Het |
|
| Other mutations in Telo2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01340:Telo2
|
APN |
17 |
25,319,103 (GRCm39) |
splice site |
probably benign |
|
|
IGL01398:Telo2
|
APN |
17 |
25,324,748 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01878:Telo2
|
APN |
17 |
25,320,332 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL02728:Telo2
|
APN |
17 |
25,323,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0669:Telo2
|
UTSW |
17 |
25,324,797 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0671:Telo2
|
UTSW |
17 |
25,332,139 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1783:Telo2
|
UTSW |
17 |
25,321,712 (GRCm39) |
splice site |
probably null |
|
|
R1869:Telo2
|
UTSW |
17 |
25,333,968 (GRCm39) |
missense |
probably benign |
0.32 |
|
R1988:Telo2
|
UTSW |
17 |
25,320,642 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2018:Telo2
|
UTSW |
17 |
25,324,382 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2167:Telo2
|
UTSW |
17 |
25,329,792 (GRCm39) |
missense |
probably benign |
|
|
R2219:Telo2
|
UTSW |
17 |
25,322,673 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3421:Telo2
|
UTSW |
17 |
25,329,726 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3880:Telo2
|
UTSW |
17 |
25,325,807 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4299:Telo2
|
UTSW |
17 |
25,334,230 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4574:Telo2
|
UTSW |
17 |
25,320,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4600:Telo2
|
UTSW |
17 |
25,324,122 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6010:Telo2
|
UTSW |
17 |
25,323,852 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6185:Telo2
|
UTSW |
17 |
25,321,014 (GRCm39) |
missense |
probably benign |
0.29 |
|
R6513:Telo2
|
UTSW |
17 |
25,320,386 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7352:Telo2
|
UTSW |
17 |
25,321,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7538:Telo2
|
UTSW |
17 |
25,329,795 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8347:Telo2
|
UTSW |
17 |
25,323,611 (GRCm39) |
nonsense |
probably null |
|
|
R8754:Telo2
|
UTSW |
17 |
25,321,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8948:Telo2
|
UTSW |
17 |
25,332,085 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8987:Telo2
|
UTSW |
17 |
25,324,402 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9096:Telo2
|
UTSW |
17 |
25,324,066 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9097:Telo2
|
UTSW |
17 |
25,324,066 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9564:Telo2
|
UTSW |
17 |
25,334,199 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9565:Telo2
|
UTSW |
17 |
25,334,199 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCATGGAGCTCTGCACAGAC -3'
(R):5'- AAGACTATGTGAGCCTCCAAGG -3'
Sequencing Primer
(F):5'- AGACTGCCCCTAGGGTCAAAG -3'
(R):5'- CCAAGGGTTTGGCTTTCTGTC -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation