Incidental Mutation 'IGL01286:Tert'
| ID |
72719 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tert
|
| Ensembl Gene |
ENSMUSG00000021611 |
| Gene Name |
telomerase reverse transcriptase |
| Synonyms |
TR |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.566)
|
| Stock # |
IGL01286
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
73775030-73797962 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 73776416 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 389
(R389H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022104
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022104]
[ENSMUST00000221522]
[ENSMUST00000223303]
|
| AlphaFold |
O70372 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022104
AA Change: R389H
PolyPhen 2
Score 0.762 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000022104
Gene: ENSMUSG00000021611
AA Change: R389H
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:Telomerase_RBD
|
329 |
375 |
2e-6 |
BLAST |
|
Telomerase_RBD
|
449 |
584 |
5.02e-75 |
SMART |
|
Blast:Telomerase_RBD
|
651 |
688 |
1e-5 |
BLAST |
|
Pfam:RVT_1
|
787 |
918 |
6e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221522
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223196
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223303
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Telomerase is a ribonucleoprotein polymerase that maintains telomere ends by addition of the telomere repeat TTAGGG. The enzyme consists of a protein component with reverse transcriptase activity, encoded by this gene, and an RNA component which serves as a template for the telomere repeat. Telomerase expression plays a role in cellular senescence, as it is normally repressed in postnatal somatic cells resulting in progressive shortening of telomeres. Deregulation of telomerase expression in somatic cells may be involved in oncogenesis. Studies in mouse suggest that telomerase also participates in chromosomal repair, since de novo synthesis of telomere repeats may occur at double-stranded breaks. Alternatively spliced variants encoding different isoforms of telomerase reverse transcriptase have been identified; the full-length sequence of some variants has not been determined. Alternative splicing at this locus is thought to be one mechanism of regulation of telomerase activity. [provided by RefSeq, Jul 2008]
PHENOTYPE: In spite of impaired telomerase function, homozygous mutant mice are overtly normal in early generations. Impaired fertility has been reported in later generations for homozygotes of at least one knockout allele. [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 |
|---|
| 4921524L21Rik |
T |
A |
18: 6,629,578 (GRCm39) |
C214S |
possibly damaging |
Het |
| Ankrd26 |
A |
T |
6: 118,536,068 (GRCm39) |
V122E |
probably damaging |
Het |
| Blnk |
T |
C |
19: 40,922,950 (GRCm39) |
K389R |
probably benign |
Het |
| Cdcp3 |
A |
T |
7: 130,848,432 (GRCm39) |
N862I |
probably damaging |
Het |
| Cdh11 |
T |
A |
8: 103,391,261 (GRCm39) |
Q325L |
probably damaging |
Het |
| Cep112 |
T |
C |
11: 108,750,235 (GRCm39) |
|
probably null |
Het |
| Cmtr2 |
T |
A |
8: 110,949,484 (GRCm39) |
I598N |
possibly damaging |
Het |
| Col1a2 |
A |
C |
6: 4,533,891 (GRCm39) |
E857D |
unknown |
Het |
| Col2a1 |
G |
A |
15: 97,892,759 (GRCm39) |
P237L |
unknown |
Het |
| Commd2 |
G |
A |
3: 57,558,143 (GRCm39) |
T66M |
probably benign |
Het |
| Cyp2c50 |
A |
T |
19: 40,080,728 (GRCm39) |
K241N |
probably benign |
Het |
| Fbxo2 |
A |
G |
4: 148,250,163 (GRCm39) |
N231S |
probably benign |
Het |
| Grm5 |
T |
C |
7: 87,251,773 (GRCm39) |
S8P |
probably benign |
Het |
| Ip6k1 |
A |
G |
9: 107,923,082 (GRCm39) |
T405A |
probably benign |
Het |
| Kel |
G |
T |
6: 41,665,051 (GRCm39) |
|
probably null |
Het |
| Lin54 |
T |
C |
5: 100,633,466 (GRCm39) |
T73A |
probably benign |
Het |
| Nek1 |
T |
A |
8: 61,577,250 (GRCm39) |
V1052D |
possibly damaging |
Het |
| Or4p22 |
T |
A |
2: 88,317,592 (GRCm39) |
I172K |
probably damaging |
Het |
| Or6c6 |
T |
A |
10: 129,186,519 (GRCm39) |
L29H |
probably damaging |
Het |
| Pcid2 |
T |
C |
8: 13,140,660 (GRCm39) |
D155G |
probably damaging |
Het |
| Ptchd1 |
T |
C |
X: 154,357,820 (GRCm39) |
T462A |
possibly damaging |
Het |
| Pxdn |
A |
G |
12: 30,032,753 (GRCm39) |
E179G |
probably benign |
Het |
| Rfc2 |
T |
C |
5: 134,618,243 (GRCm39) |
L82P |
probably damaging |
Het |
| Sh3rf2 |
T |
C |
18: 42,272,676 (GRCm39) |
|
probably null |
Het |
| Sis |
A |
T |
3: 72,848,358 (GRCm39) |
W639R |
probably damaging |
Het |
| Tbcd |
T |
C |
11: 121,384,719 (GRCm39) |
|
probably null |
Het |
| Tns3 |
C |
T |
11: 8,442,617 (GRCm39) |
S582N |
probably benign |
Het |
| Tssk2 |
C |
T |
16: 17,716,822 (GRCm39) |
T75I |
probably benign |
Het |
| Txnl4a |
C |
T |
18: 80,261,956 (GRCm39) |
T64I |
probably benign |
Het |
| Xpot |
T |
C |
10: 121,438,243 (GRCm39) |
D782G |
probably benign |
Het |
|
| Other mutations in Tert |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01585:Tert
|
APN |
13 |
73,782,463 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL03167:Tert
|
APN |
13 |
73,788,119 (GRCm39) |
missense |
probably damaging |
1.00 |
|
galileo
|
UTSW |
13 |
73,775,725 (GRCm39) |
missense |
probably damaging |
1.00 |
|
FR4304:Tert
|
UTSW |
13 |
73,796,421 (GRCm39) |
utr 3 prime |
probably benign |
|
|
FR4342:Tert
|
UTSW |
13 |
73,796,419 (GRCm39) |
utr 3 prime |
probably benign |
|
|
FR4589:Tert
|
UTSW |
13 |
73,796,423 (GRCm39) |
utr 3 prime |
probably benign |
|
|
PIT4377001:Tert
|
UTSW |
13 |
73,776,380 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R0372:Tert
|
UTSW |
13 |
73,797,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0433:Tert
|
UTSW |
13 |
73,775,200 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0829:Tert
|
UTSW |
13 |
73,792,504 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1023:Tert
|
UTSW |
13 |
73,790,178 (GRCm39) |
missense |
probably benign |
0.41 |
|
R1236:Tert
|
UTSW |
13 |
73,784,498 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1331:Tert
|
UTSW |
13 |
73,796,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1426:Tert
|
UTSW |
13 |
73,790,472 (GRCm39) |
splice site |
probably benign |
|
|
R1467:Tert
|
UTSW |
13 |
73,776,328 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1467:Tert
|
UTSW |
13 |
73,776,328 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1521:Tert
|
UTSW |
13 |
73,790,175 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2484:Tert
|
UTSW |
13 |
73,796,104 (GRCm39) |
missense |
probably benign |
|
|
R3162:Tert
|
UTSW |
13 |
73,775,528 (GRCm39) |
missense |
possibly damaging |
0.45 |
|
R3162:Tert
|
UTSW |
13 |
73,775,528 (GRCm39) |
missense |
possibly damaging |
0.45 |
|
R4428:Tert
|
UTSW |
13 |
73,775,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4430:Tert
|
UTSW |
13 |
73,775,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4431:Tert
|
UTSW |
13 |
73,775,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4630:Tert
|
UTSW |
13 |
73,797,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4696:Tert
|
UTSW |
13 |
73,775,939 (GRCm39) |
missense |
probably benign |
0.25 |
|
R4751:Tert
|
UTSW |
13 |
73,776,182 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4926:Tert
|
UTSW |
13 |
73,796,508 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R5011:Tert
|
UTSW |
13 |
73,794,428 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5013:Tert
|
UTSW |
13 |
73,794,428 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5061:Tert
|
UTSW |
13 |
73,782,397 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5268:Tert
|
UTSW |
13 |
73,775,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5323:Tert
|
UTSW |
13 |
73,796,490 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5396:Tert
|
UTSW |
13 |
73,787,362 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5445:Tert
|
UTSW |
13 |
73,792,403 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5680:Tert
|
UTSW |
13 |
73,790,470 (GRCm39) |
splice site |
probably null |
|
|
R5688:Tert
|
UTSW |
13 |
73,787,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6092:Tert
|
UTSW |
13 |
73,776,700 (GRCm39) |
missense |
probably benign |
0.34 |
|
R6973:Tert
|
UTSW |
13 |
73,776,107 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7069:Tert
|
UTSW |
13 |
73,776,529 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7317:Tert
|
UTSW |
13 |
73,790,495 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7747:Tert
|
UTSW |
13 |
73,775,725 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7787:Tert
|
UTSW |
13 |
73,797,051 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7846:Tert
|
UTSW |
13 |
73,776,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7994:Tert
|
UTSW |
13 |
73,797,074 (GRCm39) |
missense |
probably benign |
0.20 |
|
R8042:Tert
|
UTSW |
13 |
73,775,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8044:Tert
|
UTSW |
13 |
73,783,568 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8867:Tert
|
UTSW |
13 |
73,776,566 (GRCm39) |
missense |
probably benign |
|
|
R9181:Tert
|
UTSW |
13 |
73,785,294 (GRCm39) |
intron |
probably benign |
|
|
R9412:Tert
|
UTSW |
13 |
73,797,046 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9745:Tert
|
UTSW |
13 |
73,784,609 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9790:Tert
|
UTSW |
13 |
73,775,648 (GRCm39) |
missense |
probably benign |
0.21 |
|
R9791:Tert
|
UTSW |
13 |
73,775,648 (GRCm39) |
missense |
probably benign |
0.21 |
|
R9792:Tert
|
UTSW |
13 |
73,792,442 (GRCm39) |
missense |
probably benign |
0.05 |
|
| Posted On |
2013-10-07 |
Incidental Mutation