Incidental Mutation 'R3880:Telo2'
| ID |
312798 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Telo2
|
| Ensembl Gene |
ENSMUSG00000024170 |
| Gene Name |
telomere maintenance 2 |
| Synonyms |
1200003M09Rik |
| MMRRC Submission |
040794-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3880 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
25318544-25334941 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 25325807 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 407
(M407K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110835
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024987]
[ENSMUST00000115181]
|
| AlphaFold |
Q9DC40 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000024987
AA Change: M407K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000024987
Gene: ENSMUSG00000024170
AA Change: M407K
| 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 damaging
Transcript: ENSMUST00000115181
AA Change: M407K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110835
Gene: ENSMUSG00000024170
AA Change: M407K
| 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: ENSMUST00000146522
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151205
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152460
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155607
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155632
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156698
|
| Meta Mutation Damage Score |
0.8882 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
| Validation Efficiency |
92% (35/38) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
A |
G |
6: 142,584,959 (GRCm39) |
W872R |
probably damaging |
Het |
| Abcg3 |
T |
C |
5: 105,086,046 (GRCm39) |
|
probably benign |
Het |
| Adgrv1 |
T |
A |
13: 81,583,824 (GRCm39) |
Q4627L |
probably benign |
Het |
| Armc2 |
T |
C |
10: 41,839,721 (GRCm39) |
I415V |
possibly damaging |
Het |
| Atp1b1 |
C |
T |
1: 164,270,874 (GRCm39) |
R35H |
probably benign |
Het |
| Bcas3 |
A |
G |
11: 85,261,948 (GRCm39) |
M107V |
probably benign |
Het |
| Ccdc43 |
T |
C |
11: 102,583,029 (GRCm39) |
|
probably null |
Het |
| Dtx4 |
A |
C |
19: 12,463,820 (GRCm39) |
S321A |
probably benign |
Het |
| Enox1 |
A |
T |
14: 77,848,826 (GRCm39) |
H379L |
possibly damaging |
Het |
| Evx1 |
A |
T |
6: 52,290,846 (GRCm39) |
D6V |
probably damaging |
Het |
| Fubp1 |
T |
A |
3: 151,926,133 (GRCm39) |
V286E |
probably damaging |
Het |
| Itgav |
T |
C |
2: 83,598,645 (GRCm39) |
V234A |
probably damaging |
Het |
| Khdc3 |
T |
C |
9: 73,010,872 (GRCm39) |
S241P |
possibly damaging |
Het |
| Lipc |
T |
A |
9: 70,727,800 (GRCm39) |
I16F |
probably damaging |
Het |
| Mael |
T |
C |
1: 166,064,437 (GRCm39) |
|
probably benign |
Het |
| Myo7b |
T |
G |
18: 32,102,567 (GRCm39) |
E1487A |
probably damaging |
Het |
| Or52a33 |
T |
G |
7: 103,288,831 (GRCm39) |
K172T |
probably benign |
Het |
| Osgin1 |
A |
G |
8: 120,168,191 (GRCm39) |
H6R |
probably benign |
Het |
| Otog |
C |
T |
7: 45,937,445 (GRCm39) |
T1718I |
possibly damaging |
Het |
| Otogl |
T |
C |
10: 107,663,565 (GRCm39) |
E1002G |
probably damaging |
Het |
| Pkd1l1 |
T |
C |
11: 8,911,983 (GRCm39) |
N241S |
unknown |
Het |
| Psmd9 |
C |
T |
5: 123,372,653 (GRCm39) |
|
probably benign |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Slc6a2 |
C |
A |
8: 93,716,846 (GRCm39) |
N337K |
probably damaging |
Het |
| Snx19 |
A |
T |
9: 30,373,688 (GRCm39) |
Q917L |
probably damaging |
Het |
| Srsf3 |
T |
C |
17: 29,255,257 (GRCm39) |
V14A |
probably damaging |
Het |
| Sspo |
G |
A |
6: 48,471,874 (GRCm39) |
V4729I |
probably benign |
Het |
| Syngap1 |
T |
A |
17: 27,172,038 (GRCm39) |
I82N |
probably damaging |
Het |
| Thsd7b |
G |
A |
1: 129,523,107 (GRCm39) |
G47D |
probably damaging |
Het |
| Tradd |
A |
T |
8: 105,987,287 (GRCm39) |
N6K |
possibly damaging |
Het |
| Trim30a |
C |
A |
7: 104,060,396 (GRCm39) |
C460F |
probably benign |
Het |
| Trip13 |
T |
C |
13: 74,066,597 (GRCm39) |
Y318C |
probably damaging |
Het |
| Ubfd1 |
T |
A |
7: 121,667,999 (GRCm39) |
|
probably benign |
Het |
| Uggt1 |
A |
G |
1: 36,215,885 (GRCm39) |
|
probably benign |
Het |
| Wdr7 |
T |
A |
18: 63,857,226 (GRCm39) |
C101S |
possibly damaging |
Het |
| Zfp345 |
T |
C |
2: 150,314,075 (GRCm39) |
I487M |
possibly damaging |
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 |
|
R4190:Telo2
|
UTSW |
17 |
25,320,987 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- GATACTCCTCAATCCCAGATCCTG -3'
(R):5'- AGTGTTACATCAGCAAGGCC -3'
Sequencing Primer
(F):5'- CCTGGAAATGTGGGGTCCTAGAC -3'
(R):5'- TGTCTGCCTGGCACACC -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation