Incidental Mutation 'R4681:Pot1b'
ID |
350056 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pot1b
|
Ensembl Gene |
ENSMUSG00000024174 |
Gene Name |
protection of telomeres 1B |
Synonyms |
2810458H16Rik |
MMRRC Submission |
042015-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4681 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
55958951-56019628 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 55961831 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 582
(D582E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000084089
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086876]
|
AlphaFold |
H7BX60 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000086876
AA Change: D582E
PolyPhen 2
Score 0.276 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000084089 Gene: ENSMUSG00000024174 AA Change: D582E
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 |
|
Meta Mutation Damage Score |
0.1168 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.1%
|
Validation Efficiency |
100% (59/59) |
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahctf1 |
G |
T |
1: 179,580,361 (GRCm39) |
T1947K |
probably benign |
Het |
Ak9 |
A |
C |
10: 41,303,234 (GRCm39) |
K1669T |
unknown |
Het |
Atp4b |
T |
C |
8: 13,439,700 (GRCm39) |
E174G |
probably benign |
Het |
Bcl6 |
A |
G |
16: 23,787,203 (GRCm39) |
|
probably benign |
Het |
Brca2 |
C |
G |
5: 150,475,863 (GRCm39) |
|
probably null |
Het |
Btnl4 |
A |
T |
17: 34,689,075 (GRCm39) |
|
probably null |
Het |
C4a |
G |
T |
17: 35,036,075 (GRCm39) |
|
noncoding transcript |
Het |
Cab39l |
A |
G |
14: 59,737,054 (GRCm39) |
D58G |
probably benign |
Het |
Cacna2d3 |
A |
T |
14: 29,015,092 (GRCm39) |
M100K |
probably damaging |
Het |
Car2 |
T |
A |
3: 14,960,624 (GRCm39) |
Y127* |
probably null |
Het |
Cdhr1 |
T |
C |
14: 36,818,194 (GRCm39) |
N86S |
probably benign |
Het |
Celsr3 |
A |
G |
9: 108,704,953 (GRCm39) |
I479V |
possibly damaging |
Het |
Cfhr1 |
A |
T |
1: 139,478,667 (GRCm39) |
Y53* |
probably null |
Het |
Cgrrf1 |
A |
G |
14: 47,091,283 (GRCm39) |
E269G |
probably benign |
Het |
Cimap3 |
C |
A |
3: 105,905,701 (GRCm39) |
G148C |
probably damaging |
Het |
Clcn7 |
A |
T |
17: 25,376,935 (GRCm39) |
H636L |
probably damaging |
Het |
Cox10 |
T |
G |
11: 63,867,277 (GRCm39) |
T240P |
possibly damaging |
Het |
Crybg2 |
CTTCCAGAGCCATGGACCCATCTTTTCCA |
CTTCCA |
4: 133,800,029 (GRCm39) |
|
probably null |
Het |
Dbt |
A |
G |
3: 116,326,963 (GRCm39) |
D104G |
probably damaging |
Het |
F730035P03Rik |
T |
C |
7: 99,429,425 (GRCm39) |
|
noncoding transcript |
Het |
Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
Fam186b |
T |
C |
15: 99,178,771 (GRCm39) |
K185R |
probably benign |
Het |
Fat4 |
T |
C |
3: 38,941,491 (GRCm39) |
L128P |
probably damaging |
Het |
Gbf1 |
A |
T |
19: 46,268,989 (GRCm39) |
Q1381L |
probably benign |
Het |
Glp2r |
C |
T |
11: 67,621,453 (GRCm39) |
|
probably null |
Het |
Gm18025 |
A |
G |
12: 34,340,884 (GRCm39) |
S70P |
probably benign |
Het |
Gpr45 |
A |
G |
1: 43,072,068 (GRCm39) |
D237G |
probably benign |
Het |
Hectd4 |
A |
T |
5: 121,441,678 (GRCm39) |
L1213F |
possibly damaging |
Het |
Hydin |
T |
C |
8: 111,233,103 (GRCm39) |
V1734A |
possibly damaging |
Het |
Kcnh5 |
A |
T |
12: 75,054,397 (GRCm39) |
S516T |
probably benign |
Het |
Liph |
A |
C |
16: 21,802,777 (GRCm39) |
S97R |
probably benign |
Het |
Mtcl1 |
T |
C |
17: 66,756,139 (GRCm39) |
T68A |
unknown |
Het |
Nsun7 |
T |
A |
5: 66,418,542 (GRCm39) |
S91T |
probably benign |
Het |
Or5an10 |
T |
C |
19: 12,276,413 (GRCm39) |
T28A |
probably benign |
Het |
Or6c75 |
A |
G |
10: 129,337,433 (GRCm39) |
I227V |
probably damaging |
Het |
Pcdh20 |
A |
T |
14: 88,705,052 (GRCm39) |
N749K |
probably damaging |
Het |
Pxdn |
T |
C |
12: 30,062,325 (GRCm39) |
I1212T |
probably benign |
Het |
Ramp1 |
T |
C |
1: 91,124,511 (GRCm39) |
V24A |
probably benign |
Het |
S100a8 |
T |
A |
3: 90,576,890 (GRCm39) |
D14E |
probably benign |
Het |
Stk31 |
A |
G |
6: 49,414,369 (GRCm39) |
D501G |
probably benign |
Het |
Tbc1d19 |
G |
A |
5: 54,029,595 (GRCm39) |
V319M |
probably damaging |
Het |
Tbcel |
G |
T |
9: 42,361,268 (GRCm39) |
H93Q |
probably damaging |
Het |
Traf3ip2 |
C |
T |
10: 39,515,256 (GRCm39) |
P345S |
possibly damaging |
Het |
Trpm8 |
A |
T |
1: 88,312,427 (GRCm39) |
I1103F |
possibly damaging |
Het |
Ttc19 |
T |
A |
11: 62,199,917 (GRCm39) |
C112* |
probably null |
Het |
Unc5c |
T |
G |
3: 141,474,374 (GRCm39) |
|
probably null |
Het |
Urb1 |
A |
T |
16: 90,601,425 (GRCm39) |
H115Q |
probably damaging |
Het |
Vmn2r15 |
T |
A |
5: 109,434,488 (GRCm39) |
I739F |
probably damaging |
Het |
Zcchc14 |
G |
T |
8: 122,335,339 (GRCm39) |
|
probably benign |
Het |
Zfp408 |
G |
A |
2: 91,476,131 (GRCm39) |
P341L |
probably damaging |
Het |
Zfp638 |
G |
A |
6: 83,958,719 (GRCm39) |
V1166M |
possibly 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 |
R2943:Pot1b
|
UTSW |
17 |
55,981,058 (GRCm39) |
missense |
probably benign |
|
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'- TTCCCAAGGACTCAGTTGGC -3'
(R):5'- GGGCTTTAGCTTAGACCAGTTTATG -3'
Sequencing Primer
(F):5'- AAGGACTCAGTTGGCTTCGTTCTAC -3'
(R):5'- GGCTGTCCTTGAACTCAGAAATTCG -3'
|
Posted On |
2015-10-08 |