Incidental Mutation 'IGL03172:Pot1b'
| ID |
411888 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL03172
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
55958951-56019628 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 56002206 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 123
(F123I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000084089
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086876]
|
| AlphaFold |
H7BX60 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000086876
AA Change: F123I
PolyPhen 2
Score 0.603 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000084089
Gene: ENSMUSG00000024174
AA Change: F123I
| 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 |
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik1 |
T |
C |
11: 48,839,003 (GRCm39) |
H528R |
probably damaging |
Het |
| A530053G22Rik |
A |
T |
6: 60,379,047 (GRCm39) |
|
noncoding transcript |
Het |
| Aagab |
A |
G |
9: 63,542,676 (GRCm39) |
|
probably benign |
Het |
| Aknad1 |
A |
T |
3: 108,688,519 (GRCm39) |
I616F |
possibly damaging |
Het |
| Ap2a1 |
A |
C |
7: 44,553,479 (GRCm39) |
D629E |
probably benign |
Het |
| Apc2 |
C |
A |
10: 80,149,220 (GRCm39) |
Q1425K |
probably damaging |
Het |
| Asf1b |
A |
C |
8: 84,694,542 (GRCm39) |
H102P |
probably benign |
Het |
| Celf6 |
C |
T |
9: 59,489,565 (GRCm39) |
A90V |
probably damaging |
Het |
| Chrna2 |
A |
T |
14: 66,379,688 (GRCm39) |
Q9L |
probably benign |
Het |
| Csnk1g3 |
A |
G |
18: 54,086,356 (GRCm39) |
I420M |
possibly damaging |
Het |
| Eml3 |
T |
C |
19: 8,916,543 (GRCm39) |
|
probably benign |
Het |
| Epn3 |
T |
C |
11: 94,382,456 (GRCm39) |
N508S |
possibly damaging |
Het |
| Fam120a |
T |
C |
13: 49,063,812 (GRCm39) |
Y608C |
probably damaging |
Het |
| Fbn1 |
A |
C |
2: 125,162,888 (GRCm39) |
C2133G |
possibly damaging |
Het |
| Fhl5 |
A |
G |
4: 25,211,309 (GRCm39) |
F128L |
probably damaging |
Het |
| Fn1 |
T |
C |
1: 71,680,421 (GRCm39) |
N428S |
probably damaging |
Het |
| Fxr2 |
T |
C |
11: 69,540,665 (GRCm39) |
|
probably null |
Het |
| Gabrp |
T |
C |
11: 33,504,388 (GRCm39) |
Y309C |
probably damaging |
Het |
| Golga2 |
A |
G |
2: 32,182,168 (GRCm39) |
I50V |
probably benign |
Het |
| Ifi203 |
C |
T |
1: 173,764,158 (GRCm39) |
G105R |
possibly damaging |
Het |
| Itgav |
A |
T |
2: 83,596,190 (GRCm39) |
Q201L |
possibly damaging |
Het |
| Jade2 |
T |
C |
11: 51,716,198 (GRCm39) |
T336A |
probably damaging |
Het |
| Kdm4b |
A |
G |
17: 56,708,649 (GRCm39) |
D996G |
probably damaging |
Het |
| Me2 |
A |
G |
18: 73,903,797 (GRCm39) |
I557T |
probably benign |
Het |
| Memo1 |
A |
C |
17: 74,551,996 (GRCm39) |
L100R |
probably damaging |
Het |
| Mrps2 |
A |
G |
2: 28,359,818 (GRCm39) |
N225S |
probably damaging |
Het |
| Ndufa2 |
A |
G |
18: 36,877,278 (GRCm39) |
|
probably null |
Het |
| Or2g7 |
G |
T |
17: 38,378,275 (GRCm39) |
C71F |
probably damaging |
Het |
| Or7g19 |
G |
A |
9: 18,856,757 (GRCm39) |
S271N |
probably benign |
Het |
| Pak5 |
G |
T |
2: 135,940,310 (GRCm39) |
Y501* |
probably null |
Het |
| Rev3l |
T |
C |
10: 39,700,786 (GRCm39) |
V1761A |
probably benign |
Het |
| Samd3 |
T |
A |
10: 26,106,064 (GRCm39) |
V14E |
probably damaging |
Het |
| Slc4a8 |
G |
A |
15: 100,697,598 (GRCm39) |
A605T |
probably benign |
Het |
| Smgc |
A |
T |
15: 91,744,642 (GRCm39) |
D333V |
probably damaging |
Het |
| Spata4 |
A |
G |
8: 55,055,440 (GRCm39) |
I147V |
probably benign |
Het |
| Ttc23l |
G |
A |
15: 10,537,652 (GRCm39) |
S206L |
probably benign |
Het |
| Vmn2r73 |
G |
A |
7: 85,507,495 (GRCm39) |
H606Y |
probably benign |
Het |
| Vsig8 |
A |
G |
1: 172,387,916 (GRCm39) |
N2S |
probably damaging |
Het |
| Wdr17 |
A |
C |
8: 55,114,515 (GRCm39) |
I667R |
probably damaging |
Het |
| Yif1b |
A |
G |
7: 28,937,873 (GRCm39) |
|
probably null |
Het |
| Zbtb5 |
A |
T |
4: 44,994,003 (GRCm39) |
H460Q |
possibly damaging |
Het |
| Zdhhc21 |
G |
A |
4: 82,724,564 (GRCm39) |
|
probably benign |
Het |
| Zfp944 |
A |
T |
17: 22,559,018 (GRCm39) |
H76Q |
probably damaging |
Het |
| Zkscan1 |
A |
G |
5: 138,092,264 (GRCm39) |
Q146R |
probably benign |
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 |
|
|
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 |
|
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation