Incidental Mutation 'R4431:Tert'
| ID |
328625 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tert
|
| Ensembl Gene |
ENSMUSG00000021611 |
| Gene Name |
telomerase reverse transcriptase |
| Synonyms |
TR |
| MMRRC Submission |
041146-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.566)
|
| Stock # |
R4431 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
73775030-73797962 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 73775594 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Tyrosine
at position 115
(F115Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022104
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022104]
[ENSMUST00000221522]
[ENSMUST00000223303]
|
| AlphaFold |
O70372 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022104
AA Change: F115Y
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000022104
Gene: ENSMUSG00000021611
AA Change: F115Y
| 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 damaging
Transcript: ENSMUST00000221522
AA Change: F115Y
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223196
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000223303
AA Change: F115Y
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Meta Mutation Damage Score |
0.1338 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
100% (52/52) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610040J01Rik |
G |
T |
5: 64,056,182 (GRCm39) |
|
probably benign |
Het |
| 2510039O18Rik |
T |
C |
4: 148,026,022 (GRCm39) |
S181P |
probably benign |
Het |
| 4930522L14Rik |
A |
T |
5: 109,884,440 (GRCm39) |
C473S |
possibly damaging |
Het |
| 4930523C07Rik |
A |
T |
1: 159,872,149 (GRCm39) |
|
noncoding transcript |
Het |
| Aak1 |
A |
G |
6: 86,963,300 (GRCm39) |
K910R |
unknown |
Het |
| Abca2 |
A |
G |
2: 25,332,864 (GRCm39) |
D1521G |
probably benign |
Het |
| Adamts20 |
C |
A |
15: 94,241,924 (GRCm39) |
D695Y |
probably damaging |
Het |
| Bag4 |
C |
T |
8: 26,259,516 (GRCm39) |
A228T |
probably benign |
Het |
| Bltp3a |
A |
G |
17: 28,104,905 (GRCm39) |
N533S |
probably damaging |
Het |
| Bspry |
T |
A |
4: 62,400,904 (GRCm39) |
I132N |
possibly damaging |
Het |
| Cfap300 |
A |
G |
9: 8,027,178 (GRCm39) |
V120A |
probably damaging |
Het |
| Cfh |
T |
C |
1: 140,064,004 (GRCm39) |
Y424C |
probably damaging |
Het |
| Chd2 |
T |
C |
7: 73,085,709 (GRCm39) |
R1642G |
possibly damaging |
Het |
| Chrm2 |
A |
G |
6: 36,501,097 (GRCm39) |
D318G |
probably benign |
Het |
| Chrna4 |
A |
G |
2: 180,670,413 (GRCm39) |
S448P |
probably damaging |
Het |
| Cldn8 |
A |
C |
16: 88,359,619 (GRCm39) |
M102R |
probably damaging |
Het |
| Dock8 |
T |
C |
19: 25,042,754 (GRCm39) |
V112A |
probably benign |
Het |
| Fbxo42 |
C |
A |
4: 140,927,861 (GRCm39) |
R714S |
probably damaging |
Het |
| Fmo1 |
G |
A |
1: 162,661,281 (GRCm39) |
A334V |
possibly damaging |
Het |
| Gpr68 |
A |
T |
12: 100,865,650 (GRCm39) |
|
probably benign |
Het |
| Gramd4 |
A |
G |
15: 86,014,361 (GRCm39) |
K345R |
probably damaging |
Het |
| Gtpbp1 |
T |
G |
15: 79,600,398 (GRCm39) |
S444A |
probably damaging |
Het |
| Ints12 |
T |
C |
3: 132,808,242 (GRCm39) |
Y207H |
probably damaging |
Het |
| Kat2b-ps |
A |
T |
5: 93,540,443 (GRCm39) |
|
noncoding transcript |
Het |
| Klhl25 |
T |
A |
7: 75,515,162 (GRCm39) |
F23I |
probably damaging |
Het |
| Lamc1 |
A |
G |
1: 153,097,274 (GRCm39) |
I1590T |
probably damaging |
Het |
| Lhfpl4 |
A |
G |
6: 113,170,805 (GRCm39) |
I127T |
possibly damaging |
Het |
| Lrrc71 |
A |
G |
3: 87,650,143 (GRCm39) |
S286P |
possibly damaging |
Het |
| Man1c1 |
A |
T |
4: 134,430,329 (GRCm39) |
V151D |
probably damaging |
Het |
| Mipol1 |
G |
A |
12: 57,350,310 (GRCm39) |
R36Q |
possibly damaging |
Het |
| Nuggc |
T |
A |
14: 65,848,659 (GRCm39) |
W187R |
probably benign |
Het |
| Or4a71 |
A |
G |
2: 89,357,987 (GRCm39) |
Y256H |
probably damaging |
Het |
| Pkhd1 |
G |
A |
1: 20,593,538 (GRCm39) |
T1525I |
probably damaging |
Het |
| Pomp |
A |
G |
5: 147,812,289 (GRCm39) |
E125G |
probably damaging |
Het |
| Ptar1 |
G |
T |
19: 23,671,695 (GRCm39) |
G33C |
probably damaging |
Het |
| Ptpn3 |
A |
G |
4: 57,235,355 (GRCm39) |
S335P |
probably damaging |
Het |
| Pus7 |
A |
G |
5: 23,951,487 (GRCm39) |
Y521H |
probably benign |
Het |
| Shank1 |
C |
T |
7: 43,969,076 (GRCm39) |
R324* |
probably null |
Het |
| Slc12a3 |
A |
T |
8: 95,069,713 (GRCm39) |
I541F |
probably damaging |
Het |
| Slc12a9 |
G |
A |
5: 137,319,775 (GRCm39) |
P580L |
probably benign |
Het |
| Spz1 |
A |
G |
13: 92,711,837 (GRCm39) |
L213P |
probably damaging |
Het |
| Strn |
A |
G |
17: 79,043,891 (GRCm39) |
V9A |
probably damaging |
Het |
| Sytl5 |
A |
T |
X: 9,826,262 (GRCm39) |
N412Y |
probably damaging |
Het |
| Tmem67 |
T |
A |
4: 12,051,473 (GRCm39) |
N785I |
possibly damaging |
Het |
| Trf |
T |
C |
9: 103,089,075 (GRCm39) |
N243S |
possibly damaging |
Het |
| Ttc3 |
T |
C |
16: 94,211,817 (GRCm39) |
|
probably null |
Het |
| Vmn2r22 |
T |
C |
6: 123,614,817 (GRCm39) |
T258A |
possibly damaging |
Het |
| Vps13b |
A |
C |
15: 35,770,899 (GRCm39) |
Q2114P |
probably damaging |
Het |
| Wdfy1 |
T |
A |
1: 79,691,583 (GRCm39) |
R275* |
probably null |
Het |
| Wnt2b |
A |
G |
3: 104,860,256 (GRCm39) |
L217S |
probably damaging |
Het |
|
| Other mutations in Tert |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01286:Tert
|
APN |
13 |
73,776,416 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACGTGGGATAGTGCGTCTAG -3'
(R):5'- GTTAGTGAAATTCCTGCCCAC -3'
Sequencing Primer
(F):5'- GCGTCTAGCTCATGTGTCAAGAC -3'
(R):5'- AGATATCCGTGGTGGCACAAATTTG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation