Incidental Mutation 'R2943:Pot1b'
| ID |
255839 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pot1b
|
| Ensembl Gene |
ENSMUSG00000024174 |
| Gene Name |
protection of telomeres 1B |
| Synonyms |
2810458H16Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2943 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
55958951-56019628 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 55981058 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 319
(S319T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000084089
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086876]
|
| AlphaFold |
H7BX60 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000086876
AA Change: S319T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000084089
Gene: ENSMUSG00000024174
AA Change: S319T
| Domain | Start | End | E-Value | Type |
|---|
|
Telo_bind
|
11 |
141 |
1.74e-51 |
SMART |
|
Pfam:POT1PC
|
152 |
299 |
7.9e-40 |
PFAM |
|
low complexity region
|
313 |
333 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for one null mutation display male infertility with age, male germ cell apoptosis, hyperpigmentation, increased apoptosis in intestinal crypts, and decreased body size. Mice homozygous for a transgenic gene disruption exhibit neonatal lethality with possible stem cell defects. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anln |
A |
G |
9: 22,267,342 (GRCm39) |
|
probably null |
Het |
| Aqp12 |
A |
T |
1: 92,934,387 (GRCm39) |
D88V |
probably damaging |
Het |
| Armc5 |
A |
C |
7: 127,839,752 (GRCm39) |
N357H |
probably damaging |
Het |
| Atad2b |
C |
A |
12: 4,992,067 (GRCm39) |
T222K |
probably damaging |
Het |
| Carmil2 |
C |
T |
8: 106,419,564 (GRCm39) |
H815Y |
probably benign |
Het |
| Chrna9 |
T |
C |
5: 66,134,438 (GRCm39) |
Y430H |
probably damaging |
Het |
| Eif1ad15 |
T |
C |
12: 88,288,004 (GRCm39) |
D83G |
probably benign |
Het |
| Eps8 |
T |
C |
6: 137,499,870 (GRCm39) |
D203G |
probably damaging |
Het |
| Galnt6 |
G |
T |
15: 100,612,160 (GRCm39) |
|
probably null |
Het |
| Gsdmc |
C |
T |
15: 63,675,501 (GRCm39) |
V105I |
possibly damaging |
Het |
| Kntc1 |
A |
G |
5: 123,935,847 (GRCm39) |
D1509G |
possibly damaging |
Het |
| Lrp10 |
C |
T |
14: 54,707,302 (GRCm39) |
|
probably benign |
Het |
| Mcmbp |
A |
T |
7: 128,325,697 (GRCm39) |
L97H |
probably damaging |
Het |
| Mfsd2a |
A |
G |
4: 122,842,382 (GRCm39) |
L495P |
possibly damaging |
Het |
| Or52s19 |
A |
G |
7: 103,007,658 (GRCm39) |
C248R |
probably damaging |
Het |
| Pank4 |
G |
A |
4: 155,055,931 (GRCm39) |
V319I |
probably benign |
Het |
| Pde7a |
T |
C |
3: 19,284,489 (GRCm39) |
N365D |
probably damaging |
Het |
| Rbm25 |
T |
C |
12: 83,707,415 (GRCm39) |
I276T |
probably damaging |
Het |
| Reg1 |
T |
A |
6: 78,405,128 (GRCm39) |
L117Q |
possibly damaging |
Het |
| Ripor3 |
T |
C |
2: 167,825,681 (GRCm39) |
H759R |
possibly damaging |
Het |
| Rph3al |
A |
T |
11: 75,725,714 (GRCm39) |
|
probably null |
Het |
| S1pr4 |
A |
C |
10: 81,334,706 (GRCm39) |
L256R |
probably damaging |
Het |
| Sstr4 |
T |
C |
2: 148,238,085 (GRCm39) |
V232A |
probably damaging |
Het |
| Tor3a |
G |
A |
1: 156,501,665 (GRCm39) |
P71S |
probably benign |
Het |
| Zfp804a |
C |
A |
2: 82,066,223 (GRCm39) |
Q65K |
probably damaging |
Het |
|
| Other mutations in Pot1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01484:Pot1b
|
APN |
17 |
56,002,160 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01796:Pot1b
|
APN |
17 |
55,976,750 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL01810:Pot1b
|
APN |
17 |
55,969,521 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL02371:Pot1b
|
APN |
17 |
56,002,092 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02553:Pot1b
|
APN |
17 |
56,002,024 (GRCm39) |
splice site |
probably benign |
|
|
IGL02957:Pot1b
|
APN |
17 |
56,007,009 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02975:Pot1b
|
APN |
17 |
55,969,454 (GRCm39) |
splice site |
probably benign |
|
|
IGL03172:Pot1b
|
APN |
17 |
56,002,206 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
boulder
|
UTSW |
17 |
55,979,865 (GRCm39) |
nonsense |
probably null |
|
|
erosion
|
UTSW |
17 |
55,994,834 (GRCm39) |
missense |
probably damaging |
0.99 |
|
G1Funyon:Pot1b
|
UTSW |
17 |
55,994,895 (GRCm39) |
missense |
probably benign |
|
|
R0020:Pot1b
|
UTSW |
17 |
55,960,429 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0540:Pot1b
|
UTSW |
17 |
55,972,765 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0607:Pot1b
|
UTSW |
17 |
55,972,765 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0882:Pot1b
|
UTSW |
17 |
55,973,400 (GRCm39) |
splice site |
probably benign |
|
|
R1164:Pot1b
|
UTSW |
17 |
55,981,085 (GRCm39) |
missense |
probably benign |
0.18 |
|
R1476:Pot1b
|
UTSW |
17 |
55,960,451 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1874:Pot1b
|
UTSW |
17 |
55,961,805 (GRCm39) |
missense |
probably benign |
|
|
R1955:Pot1b
|
UTSW |
17 |
55,981,067 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1960:Pot1b
|
UTSW |
17 |
55,969,531 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1961:Pot1b
|
UTSW |
17 |
55,969,531 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2109:Pot1b
|
UTSW |
17 |
55,960,413 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2895:Pot1b
|
UTSW |
17 |
55,994,939 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4681:Pot1b
|
UTSW |
17 |
55,961,831 (GRCm39) |
missense |
probably benign |
0.28 |
|
R4763:Pot1b
|
UTSW |
17 |
56,002,160 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4821:Pot1b
|
UTSW |
17 |
55,979,885 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5079:Pot1b
|
UTSW |
17 |
55,976,801 (GRCm39) |
missense |
probably benign |
0.18 |
|
R5146:Pot1b
|
UTSW |
17 |
55,979,865 (GRCm39) |
nonsense |
probably null |
|
|
R5176:Pot1b
|
UTSW |
17 |
56,006,995 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5394:Pot1b
|
UTSW |
17 |
56,007,063 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5752:Pot1b
|
UTSW |
17 |
55,994,834 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6866:Pot1b
|
UTSW |
17 |
55,960,474 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8301:Pot1b
|
UTSW |
17 |
55,994,895 (GRCm39) |
missense |
probably benign |
|
|
R8390:Pot1b
|
UTSW |
17 |
55,999,739 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8750:Pot1b
|
UTSW |
17 |
55,973,537 (GRCm39) |
missense |
probably benign |
|
|
R9042:Pot1b
|
UTSW |
17 |
56,006,991 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9564:Pot1b
|
UTSW |
17 |
55,969,465 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9565:Pot1b
|
UTSW |
17 |
55,969,465 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9611:Pot1b
|
UTSW |
17 |
56,006,995 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9727:Pot1b
|
UTSW |
17 |
55,999,795 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
RF014:Pot1b
|
UTSW |
17 |
55,981,106 (GRCm39) |
missense |
probably benign |
0.12 |
|
X0062:Pot1b
|
UTSW |
17 |
56,002,154 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGACTCTATACTTAAAAGCCCAGC -3'
(R):5'- GGCCACTGACTAGAATGTAGC -3'
Sequencing Primer
(F):5'- AGCCCAGCAATCTTATTTTTGGCTAG -3'
(R):5'- CTGTATTTAGAGGGCTCTGC -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation