Incidental Mutation 'IGL01878:Telo2'
| ID |
178973 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Telo2
|
| Ensembl Gene |
ENSMUSG00000024170 |
| Gene Name |
telomere maintenance 2 |
| Synonyms |
1200003M09Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01878
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
25318544-25334941 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 25320332 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 784
(T784K)
|
| 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: T784K
PolyPhen 2
Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000024987
Gene: ENSMUSG00000024170
AA Change: T784K
| 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: T784K
PolyPhen 2
Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000110835
Gene: ENSMUSG00000024170
AA Change: T784K
| 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: ENSMUST00000142000
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143390
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152460
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153895
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156698
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155632
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155607
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alox8 |
G |
T |
11: 69,087,864 (GRCm39) |
Q147K |
probably benign |
Het |
| Ankib1 |
T |
A |
5: 3,784,152 (GRCm39) |
M275L |
possibly damaging |
Het |
| Asb2 |
G |
A |
12: 103,287,922 (GRCm39) |
P546S |
possibly damaging |
Het |
| B9d1 |
T |
C |
11: 61,398,449 (GRCm39) |
|
probably benign |
Het |
| Col12a1 |
T |
C |
9: 79,557,257 (GRCm39) |
D1957G |
possibly damaging |
Het |
| Cryzl2 |
T |
C |
1: 157,299,970 (GRCm39) |
V44A |
possibly damaging |
Het |
| Fbxw19 |
A |
C |
9: 109,312,347 (GRCm39) |
|
probably benign |
Het |
| Gabrb3 |
T |
C |
7: 57,466,163 (GRCm39) |
F326L |
probably damaging |
Het |
| Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm11168 |
T |
C |
9: 3,005,204 (GRCm39) |
C16R |
probably benign |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Gm7808 |
T |
A |
9: 19,839,542 (GRCm39) |
|
probably benign |
Het |
| Gpam |
T |
C |
19: 55,071,806 (GRCm39) |
I312V |
probably benign |
Het |
| H2-M10.5 |
A |
G |
17: 37,084,708 (GRCm39) |
Y144C |
probably damaging |
Het |
| Hivep3 |
T |
C |
4: 119,952,424 (GRCm39) |
S247P |
possibly damaging |
Het |
| Hs3st4 |
T |
G |
7: 123,996,536 (GRCm39) |
C401G |
probably damaging |
Het |
| Klhl2 |
A |
G |
8: 65,212,858 (GRCm39) |
V227A |
probably damaging |
Het |
| Lct |
T |
C |
1: 128,222,003 (GRCm39) |
N1512S |
probably damaging |
Het |
| Lipm |
T |
A |
19: 34,093,911 (GRCm39) |
L276Q |
possibly damaging |
Het |
| Lmf2 |
T |
A |
15: 89,236,621 (GRCm39) |
H515L |
probably damaging |
Het |
| Mccc1 |
G |
A |
3: 36,030,041 (GRCm39) |
S423L |
probably damaging |
Het |
| Mettl21e |
G |
A |
1: 44,250,193 (GRCm39) |
S71L |
probably null |
Het |
| Muc16 |
T |
A |
9: 18,406,839 (GRCm39) |
H251L |
possibly damaging |
Het |
| Neb |
T |
C |
2: 52,059,852 (GRCm39) |
|
probably benign |
Het |
| Ntf5 |
T |
C |
7: 45,065,450 (GRCm39) |
I194T |
probably damaging |
Het |
| Or10ag58 |
T |
C |
2: 87,265,314 (GRCm39) |
I161T |
possibly damaging |
Het |
| Or1o4 |
A |
G |
17: 37,590,891 (GRCm39) |
V140A |
possibly damaging |
Het |
| Or2w6 |
T |
C |
13: 21,842,953 (GRCm39) |
D180G |
possibly damaging |
Het |
| Or4x11 |
T |
C |
2: 89,867,478 (GRCm39) |
S72P |
probably damaging |
Het |
| Or9m1 |
A |
T |
2: 87,733,675 (GRCm39) |
L115* |
probably null |
Het |
| Pigv |
T |
C |
4: 133,392,428 (GRCm39) |
I247M |
probably benign |
Het |
| Pik3r5 |
A |
G |
11: 68,383,356 (GRCm39) |
N392D |
probably benign |
Het |
| Postn |
A |
G |
3: 54,290,901 (GRCm39) |
|
probably null |
Het |
| Prl2c5 |
G |
A |
13: 13,360,402 (GRCm39) |
S23N |
probably benign |
Het |
| Prpf40b |
T |
C |
15: 99,204,413 (GRCm39) |
C220R |
possibly damaging |
Het |
| Pzp |
A |
G |
6: 128,472,261 (GRCm39) |
S843P |
probably damaging |
Het |
| Rpl23 |
C |
A |
11: 97,669,177 (GRCm39) |
R85L |
probably benign |
Het |
| Shcbp1 |
A |
G |
8: 4,799,721 (GRCm39) |
S252P |
probably damaging |
Het |
| Slc26a7 |
C |
T |
4: 14,519,388 (GRCm39) |
|
probably null |
Het |
| Sptbn4 |
T |
C |
7: 27,063,571 (GRCm39) |
E2285G |
probably damaging |
Het |
| Tnfrsf19 |
C |
T |
14: 61,234,093 (GRCm39) |
V136M |
probably damaging |
Het |
| Trpm5 |
T |
A |
7: 142,628,234 (GRCm39) |
I22F |
probably damaging |
Het |
| Trpv6 |
G |
T |
6: 41,603,801 (GRCm39) |
|
probably benign |
Het |
| Vmn1r173 |
T |
G |
7: 23,401,877 (GRCm39) |
H37Q |
probably damaging |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Xpo6 |
T |
A |
7: 125,773,365 (GRCm39) |
H20L |
probably benign |
Het |
| Zfp462 |
T |
C |
4: 55,010,613 (GRCm39) |
Y860H |
probably 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 |
|
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 |
|
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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation