Incidental Mutation 'IGL01810:Pot1b'
| ID |
155789 |
| 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 # |
IGL01810
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
55958951-56019628 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 55969521 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 549
(V549A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000084089
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086876]
|
| AlphaFold |
H7BX60 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000086876
AA Change: V549A
PolyPhen 2
Score 0.678 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000084089
Gene: ENSMUSG00000024174
AA Change: V549A
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157874
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aarsd1 |
G |
T |
11: 101,308,185 (GRCm39) |
Y10* |
probably null |
Het |
| Aass |
C |
A |
6: 23,107,633 (GRCm39) |
Q383H |
probably damaging |
Het |
| Bag1 |
T |
C |
4: 40,936,657 (GRCm39) |
D333G |
probably damaging |
Het |
| Cap2 |
A |
G |
13: 46,793,425 (GRCm39) |
|
probably benign |
Het |
| Col27a1 |
G |
T |
4: 63,143,868 (GRCm39) |
A519S |
probably benign |
Het |
| Cr2 |
A |
G |
1: 194,841,903 (GRCm39) |
V726A |
possibly damaging |
Het |
| Csmd2 |
A |
G |
4: 128,374,638 (GRCm39) |
|
probably benign |
Het |
| Dennd4c |
A |
G |
4: 86,717,788 (GRCm39) |
D595G |
possibly damaging |
Het |
| Ercc2 |
G |
T |
7: 19,127,374 (GRCm39) |
R340L |
probably damaging |
Het |
| Espl1 |
A |
G |
15: 102,206,640 (GRCm39) |
T35A |
probably benign |
Het |
| Fndc3a |
A |
G |
14: 72,803,581 (GRCm39) |
Y525H |
probably benign |
Het |
| Gm4922 |
T |
C |
10: 18,659,795 (GRCm39) |
Q309R |
probably benign |
Het |
| Gm5263 |
T |
C |
1: 146,296,292 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6563 |
A |
C |
19: 23,653,751 (GRCm39) |
R180S |
probably damaging |
Het |
| Gpr182 |
C |
A |
10: 127,586,733 (GRCm39) |
V73F |
probably damaging |
Het |
| Gramd1b |
C |
T |
9: 40,227,069 (GRCm39) |
R179H |
probably damaging |
Het |
| Hk1 |
C |
T |
10: 62,188,884 (GRCm39) |
A10T |
probably benign |
Het |
| Hmgn3 |
C |
A |
9: 82,992,437 (GRCm39) |
|
probably benign |
Het |
| Il1b |
C |
T |
2: 129,211,649 (GRCm39) |
E24K |
probably damaging |
Het |
| Itgb6 |
G |
T |
2: 60,458,329 (GRCm39) |
Q475K |
probably benign |
Het |
| Lrrc74b |
A |
G |
16: 17,363,422 (GRCm39) |
S368P |
probably benign |
Het |
| Mfsd2b |
T |
C |
12: 4,916,469 (GRCm39) |
T234A |
possibly damaging |
Het |
| Muc6 |
A |
T |
7: 141,237,327 (GRCm39) |
Y270N |
probably damaging |
Het |
| Naip6 |
A |
G |
13: 100,424,603 (GRCm39) |
|
probably benign |
Het |
| Or4b13 |
A |
T |
2: 90,082,476 (GRCm39) |
Y285* |
probably null |
Het |
| Pear1 |
G |
A |
3: 87,659,608 (GRCm39) |
T742I |
probably damaging |
Het |
| Peli2 |
G |
A |
14: 48,493,491 (GRCm39) |
V238I |
probably benign |
Het |
| Pira2 |
A |
G |
7: 3,847,611 (GRCm39) |
L26P |
probably damaging |
Het |
| Prdm16 |
T |
C |
4: 154,432,384 (GRCm39) |
Y295C |
probably benign |
Het |
| Ptprd |
A |
T |
4: 76,058,744 (GRCm39) |
|
probably benign |
Het |
| Rap1gap |
A |
T |
4: 137,443,466 (GRCm39) |
M145L |
probably benign |
Het |
| Setd7 |
A |
T |
3: 51,440,388 (GRCm39) |
|
probably benign |
Het |
| Ssx2ip |
T |
C |
3: 146,133,765 (GRCm39) |
I258T |
probably benign |
Het |
| Stard9 |
T |
C |
2: 120,529,565 (GRCm39) |
Y1941H |
possibly damaging |
Het |
| Stxbp3 |
T |
C |
3: 108,707,468 (GRCm39) |
E420G |
probably benign |
Het |
| Tpra1 |
T |
C |
6: 88,886,324 (GRCm39) |
V101A |
probably damaging |
Het |
| Tpx2 |
G |
T |
2: 152,726,155 (GRCm39) |
Q373H |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,557,352 (GRCm39) |
R29914Q |
probably damaging |
Het |
| Ubr3 |
T |
C |
2: 69,833,809 (GRCm39) |
|
probably null |
Het |
| Usp18 |
G |
A |
6: 121,230,730 (GRCm39) |
G53D |
probably damaging |
Het |
| Vps13c |
A |
T |
9: 67,863,062 (GRCm39) |
H3026L |
probably benign |
Het |
| Zan |
T |
C |
5: 137,461,888 (GRCm39) |
E1097G |
unknown |
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 |
|
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 |
|
|
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 |
2014-02-04 |
Incidental Mutation