Incidental Mutation 'R0530:Pot1a'
| ID |
49098 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pot1a
|
| Ensembl Gene |
ENSMUSG00000029676 |
| Gene Name |
protection of telomeres 1A |
| Synonyms |
1500031H18Rik, Pot1 |
| MMRRC Submission |
038722-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0530 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
25743939-25809280 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 25771540 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 227
(V227A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131928
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115327]
[ENSMUST00000115330]
[ENSMUST00000166445]
|
| AlphaFold |
Q91WC1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000115327
AA Change: V227A
PolyPhen 2
Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000110982
Gene: ENSMUSG00000029676
AA Change: V227A
| Domain | Start | End | E-Value | Type |
|---|
|
Telo_bind
|
11 |
141 |
3.6e-53 |
SMART |
|
low complexity region
|
253 |
260 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000115329
|
| SMART Domains |
Protein: ENSMUSP00000110984
Gene: ENSMUSG00000029676
| Domain | Start | End | E-Value | Type |
|---|
|
Telo_bind
|
11 |
141 |
3.6e-53 |
SMART |
|
low complexity region
|
253 |
260 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000115330
AA Change: V227A
PolyPhen 2
Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000110986
Gene: ENSMUSG00000029676
AA Change: V227A
| Domain | Start | End | E-Value | Type |
|---|
|
Telo_bind
|
11 |
141 |
3.6e-53 |
SMART |
|
Pfam:POT1PC
|
152 |
299 |
6.7e-41 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156985
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000166445
AA Change: V227A
PolyPhen 2
Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000131928
Gene: ENSMUSG00000029676
AA Change: V227A
| Domain | Start | End | E-Value | Type |
|---|
|
Telo_bind
|
11 |
141 |
3.6e-53 |
SMART |
|
low complexity region
|
253 |
260 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.4668 |
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.7%
- 10x: 96.6%
- 20x: 93.1%
|
| Validation Efficiency |
96% (51/53) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the telombin family and encodes a nuclear protein involved in telomere maintenance. Specifically, this protein functions as a member of a multi-protein complex that binds to the TTAGGG repeats of telomeres, regulating telomere length and protecting chromosome ends from illegitimate recombination, catastrophic chromosome instability, and abnormal chromosome segregation. Increased transcriptional expression of this gene is associated with stomach carcinogenesis and its progression. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous inactivation of this gene leads to complete prenatal lethality. Embryos homozygous for a gene trapped allele fail to form an inner cell mass in culture. [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 |
|---|
| Abcg3 |
A |
G |
5: 105,083,920 (GRCm39) |
W617R |
probably damaging |
Het |
| Adam34l |
A |
T |
8: 44,079,568 (GRCm39) |
C219S |
probably benign |
Het |
| Cep83 |
A |
T |
10: 94,555,450 (GRCm39) |
|
probably benign |
Het |
| Ces1e |
G |
A |
8: 93,946,149 (GRCm39) |
|
probably benign |
Het |
| Ckap2 |
A |
G |
8: 22,665,988 (GRCm39) |
|
probably benign |
Het |
| Clip1 |
C |
A |
5: 123,778,594 (GRCm39) |
R443L |
probably damaging |
Het |
| Clmp |
A |
G |
9: 40,672,302 (GRCm39) |
D44G |
probably benign |
Het |
| Cntnap2 |
G |
A |
6: 46,506,839 (GRCm39) |
Q304* |
probably null |
Het |
| Cst7 |
A |
T |
2: 150,412,435 (GRCm39) |
|
probably benign |
Het |
| Dclk3 |
A |
T |
9: 111,311,789 (GRCm39) |
Y677F |
probably damaging |
Het |
| Dlat |
G |
T |
9: 50,548,869 (GRCm39) |
N562K |
probably damaging |
Het |
| Elmod1 |
A |
T |
9: 53,833,260 (GRCm39) |
Y182N |
probably damaging |
Het |
| Fzd10 |
T |
C |
5: 128,679,077 (GRCm39) |
F266L |
probably damaging |
Het |
| Gm8258 |
A |
G |
5: 104,923,952 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9742 |
T |
A |
13: 8,080,041 (GRCm39) |
|
noncoding transcript |
Het |
| Hdlbp |
T |
C |
1: 93,358,039 (GRCm39) |
|
probably benign |
Het |
| Itga8 |
A |
G |
2: 12,196,627 (GRCm39) |
S597P |
probably damaging |
Het |
| Kndc1 |
A |
T |
7: 139,481,153 (GRCm39) |
I80F |
probably damaging |
Het |
| Ktn1 |
A |
G |
14: 47,970,700 (GRCm39) |
N1192S |
probably benign |
Het |
| Ldha |
G |
A |
7: 46,503,417 (GRCm39) |
V270M |
probably damaging |
Het |
| Lyst |
T |
C |
13: 13,931,891 (GRCm39) |
|
probably benign |
Het |
| Map3k9 |
A |
T |
12: 81,769,256 (GRCm39) |
F954I |
probably benign |
Het |
| Mroh2b |
A |
G |
15: 4,963,877 (GRCm39) |
N823S |
probably damaging |
Het |
| Mycbp2 |
A |
T |
14: 103,419,895 (GRCm39) |
N2480K |
probably damaging |
Het |
| Nat1 |
A |
G |
8: 67,943,977 (GRCm39) |
K121E |
probably benign |
Het |
| Neurl1b |
T |
A |
17: 26,660,519 (GRCm39) |
|
probably null |
Het |
| Nnt |
C |
A |
13: 119,531,257 (GRCm39) |
L163F |
probably damaging |
Het |
| Or10v5 |
A |
G |
19: 11,805,556 (GRCm39) |
V278A |
probably benign |
Het |
| Otog |
A |
G |
7: 45,947,668 (GRCm39) |
T2274A |
probably damaging |
Het |
| Pde4b |
G |
A |
4: 102,459,848 (GRCm39) |
R561Q |
probably damaging |
Het |
| Pitpnm2 |
A |
G |
5: 124,269,264 (GRCm39) |
F453L |
probably damaging |
Het |
| Pms1 |
T |
C |
1: 53,235,972 (GRCm39) |
|
probably null |
Het |
| Prdx6b |
A |
G |
2: 80,123,659 (GRCm39) |
N156S |
probably damaging |
Het |
| Ptpn9 |
A |
G |
9: 56,968,417 (GRCm39) |
S586G |
probably benign |
Het |
| Serpina6 |
A |
T |
12: 103,618,053 (GRCm39) |
N253K |
probably damaging |
Het |
| Slc12a2 |
T |
A |
18: 58,052,608 (GRCm39) |
V809D |
possibly damaging |
Het |
| Slc2a8 |
C |
T |
2: 32,863,696 (GRCm39) |
A449T |
probably benign |
Het |
| Slc6a6 |
A |
G |
6: 91,701,939 (GRCm39) |
I116V |
probably null |
Het |
| Synj2 |
T |
A |
17: 6,058,380 (GRCm39) |
S58R |
possibly damaging |
Het |
| Tafa3 |
T |
C |
3: 104,679,487 (GRCm39) |
|
probably benign |
Het |
| Tktl2 |
T |
C |
8: 66,965,831 (GRCm39) |
V463A |
probably damaging |
Het |
| Uchl5 |
T |
C |
1: 143,670,082 (GRCm39) |
V105A |
possibly damaging |
Het |
| Usp9y |
T |
C |
Y: 1,333,600 (GRCm39) |
|
probably benign |
Het |
| Vmn1r200 |
T |
C |
13: 22,579,667 (GRCm39) |
S148P |
probably damaging |
Het |
| Vmn2r50 |
A |
T |
7: 9,781,644 (GRCm39) |
M367K |
possibly damaging |
Het |
| Vps13a |
T |
C |
19: 16,632,570 (GRCm39) |
|
probably benign |
Het |
| Wdr26 |
A |
T |
1: 181,013,635 (GRCm39) |
|
probably null |
Het |
| Wdr87-ps |
A |
G |
7: 29,229,545 (GRCm39) |
|
noncoding transcript |
Het |
| Ythdc2 |
T |
A |
18: 44,983,465 (GRCm39) |
M544K |
probably damaging |
Het |
| Zpld2 |
A |
G |
4: 133,930,221 (GRCm39) |
I28T |
probably benign |
Het |
|
| Other mutations in Pot1a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00857:Pot1a
|
APN |
6 |
25,744,627 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01393:Pot1a
|
APN |
6 |
25,744,630 (GRCm39) |
nonsense |
probably null |
|
|
IGL01411:Pot1a
|
APN |
6 |
25,750,143 (GRCm39) |
splice site |
probably benign |
|
|
IGL01774:Pot1a
|
APN |
6 |
25,753,276 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01981:Pot1a
|
APN |
6 |
25,750,099 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02404:Pot1a
|
APN |
6 |
25,764,431 (GRCm39) |
splice site |
probably benign |
|
|
IGL02530:Pot1a
|
APN |
6 |
25,794,592 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02755:Pot1a
|
APN |
6 |
25,771,612 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL03127:Pot1a
|
APN |
6 |
25,794,615 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03396:Pot1a
|
APN |
6 |
25,745,913 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
BB001:Pot1a
|
UTSW |
6 |
25,753,309 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
BB011:Pot1a
|
UTSW |
6 |
25,753,309 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0329:Pot1a
|
UTSW |
6 |
25,778,830 (GRCm39) |
splice site |
probably benign |
|
|
R0359:Pot1a
|
UTSW |
6 |
25,771,679 (GRCm39) |
splice site |
probably benign |
|
|
R0840:Pot1a
|
UTSW |
6 |
25,748,283 (GRCm39) |
splice site |
probably benign |
|
|
R0918:Pot1a
|
UTSW |
6 |
25,756,267 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1650:Pot1a
|
UTSW |
6 |
25,745,964 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1937:Pot1a
|
UTSW |
6 |
25,753,323 (GRCm39) |
missense |
probably benign |
0.15 |
|
R2142:Pot1a
|
UTSW |
6 |
25,750,043 (GRCm39) |
splice site |
probably null |
|
|
R4072:Pot1a
|
UTSW |
6 |
25,752,356 (GRCm39) |
splice site |
probably null |
|
|
R4074:Pot1a
|
UTSW |
6 |
25,752,356 (GRCm39) |
splice site |
probably null |
|
|
R4322:Pot1a
|
UTSW |
6 |
25,745,929 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4895:Pot1a
|
UTSW |
6 |
25,753,205 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4910:Pot1a
|
UTSW |
6 |
25,746,020 (GRCm39) |
intron |
probably benign |
|
|
R4933:Pot1a
|
UTSW |
6 |
25,771,540 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5530:Pot1a
|
UTSW |
6 |
25,778,893 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5748:Pot1a
|
UTSW |
6 |
25,758,855 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R5775:Pot1a
|
UTSW |
6 |
25,757,297 (GRCm39) |
splice site |
probably null |
|
|
R5870:Pot1a
|
UTSW |
6 |
25,778,950 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6180:Pot1a
|
UTSW |
6 |
25,771,620 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6377:Pot1a
|
UTSW |
6 |
25,778,869 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7251:Pot1a
|
UTSW |
6 |
25,752,497 (GRCm39) |
splice site |
probably null |
|
|
R7457:Pot1a
|
UTSW |
6 |
25,771,621 (GRCm39) |
missense |
probably benign |
0.26 |
|
R7679:Pot1a
|
UTSW |
6 |
25,771,633 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7717:Pot1a
|
UTSW |
6 |
25,758,822 (GRCm39) |
missense |
probably benign |
0.45 |
|
R7924:Pot1a
|
UTSW |
6 |
25,753,309 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8078:Pot1a
|
UTSW |
6 |
25,750,107 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8084:Pot1a
|
UTSW |
6 |
25,771,535 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8170:Pot1a
|
UTSW |
6 |
25,758,802 (GRCm39) |
makesense |
probably null |
|
|
R9070:Pot1a
|
UTSW |
6 |
25,744,629 (GRCm39) |
missense |
|
|
|
R9525:Pot1a
|
UTSW |
6 |
25,745,916 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9574:Pot1a
|
UTSW |
6 |
25,775,718 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R9638:Pot1a
|
UTSW |
6 |
25,750,106 (GRCm39) |
nonsense |
probably null |
|
|
R9698:Pot1a
|
UTSW |
6 |
25,744,615 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
|
| Posted On |
2013-06-12 |
Incidental Mutation