Incidental Mutation 'IGL02975:Pot1b'
ID |
406355 |
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 # |
IGL02975
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
55958951-56019628 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
G to A
at 55969454 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000084089
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086876]
|
AlphaFold |
H7BX60 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000086876
|
SMART Domains |
Protein: ENSMUSP00000084089 Gene: ENSMUSG00000024174
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A930011G23Rik |
T |
C |
5: 99,381,784 (GRCm39) |
D326G |
possibly damaging |
Het |
Abtb3 |
A |
G |
10: 85,467,207 (GRCm39) |
I721V |
probably benign |
Het |
Ago4 |
C |
T |
4: 126,406,312 (GRCm39) |
|
probably null |
Het |
Ank |
A |
G |
15: 27,467,087 (GRCm39) |
|
probably benign |
Het |
Ankmy2 |
C |
A |
12: 36,243,773 (GRCm39) |
S329R |
possibly damaging |
Het |
Aox1 |
A |
G |
1: 58,107,550 (GRCm39) |
E608G |
probably damaging |
Het |
Car1 |
G |
A |
3: 14,842,882 (GRCm39) |
L48F |
probably benign |
Het |
Cct8 |
A |
G |
16: 87,283,118 (GRCm39) |
|
probably benign |
Het |
Clasp1 |
A |
T |
1: 118,390,277 (GRCm39) |
T154S |
probably damaging |
Het |
Clca4a |
A |
C |
3: 144,669,530 (GRCm39) |
I340M |
possibly damaging |
Het |
Cnksr3 |
C |
T |
10: 7,088,354 (GRCm39) |
|
probably null |
Het |
Cntrob |
T |
C |
11: 69,210,199 (GRCm39) |
T265A |
possibly damaging |
Het |
Ddx5 |
T |
C |
11: 106,672,711 (GRCm39) |
I605V |
probably benign |
Het |
Eif3i |
A |
G |
4: 129,489,105 (GRCm39) |
Y70H |
probably damaging |
Het |
Epb41l5 |
T |
C |
1: 119,506,811 (GRCm39) |
|
probably benign |
Het |
Fah |
A |
T |
7: 84,250,287 (GRCm39) |
S90T |
probably benign |
Het |
Fat2 |
T |
A |
11: 55,161,020 (GRCm39) |
M3237L |
probably benign |
Het |
Fbxw8 |
A |
G |
5: 118,215,760 (GRCm39) |
Y417H |
probably benign |
Het |
Fmnl2 |
C |
A |
2: 52,991,494 (GRCm39) |
F336L |
probably benign |
Het |
Gli3 |
A |
G |
13: 15,899,153 (GRCm39) |
R847G |
probably damaging |
Het |
Gm17509 |
T |
C |
13: 117,357,308 (GRCm39) |
|
probably benign |
Het |
Gm4846 |
T |
A |
1: 166,311,449 (GRCm39) |
Y470F |
possibly damaging |
Het |
Gm7461 |
T |
C |
8: 4,727,847 (GRCm39) |
|
noncoding transcript |
Het |
Gpatch4 |
A |
T |
3: 87,961,743 (GRCm39) |
N134I |
possibly damaging |
Het |
Grina |
A |
G |
15: 76,133,185 (GRCm39) |
Y251C |
probably damaging |
Het |
Gsn |
A |
G |
2: 35,194,666 (GRCm39) |
D654G |
probably benign |
Het |
Hyal5 |
A |
G |
6: 24,891,451 (GRCm39) |
T422A |
probably benign |
Het |
Iars1 |
T |
A |
13: 49,858,325 (GRCm39) |
I377N |
probably damaging |
Het |
Ints3 |
A |
T |
3: 90,309,144 (GRCm39) |
|
probably benign |
Het |
Kdm4b |
G |
A |
17: 56,682,996 (GRCm39) |
|
probably null |
Het |
Kyat1 |
A |
G |
2: 30,076,687 (GRCm39) |
S276P |
probably damaging |
Het |
Lrrc1 |
A |
G |
9: 77,359,929 (GRCm39) |
C288R |
probably damaging |
Het |
Mst1r |
T |
A |
9: 107,790,379 (GRCm39) |
M664K |
probably benign |
Het |
Neb |
A |
T |
2: 52,188,879 (GRCm39) |
I817N |
probably damaging |
Het |
Nudt6 |
C |
A |
3: 37,473,667 (GRCm39) |
G18V |
probably damaging |
Het |
Or10a49 |
G |
A |
7: 108,468,062 (GRCm39) |
Q100* |
probably null |
Het |
Or4k52 |
T |
A |
2: 111,611,266 (GRCm39) |
Y200* |
probably null |
Het |
Or7a41 |
T |
C |
10: 78,870,867 (GRCm39) |
V79A |
possibly damaging |
Het |
Pde1c |
A |
G |
6: 56,135,921 (GRCm39) |
I341T |
probably damaging |
Het |
Pgm5 |
T |
C |
19: 24,812,212 (GRCm39) |
I107V |
probably benign |
Het |
Prkca |
C |
T |
11: 108,231,503 (GRCm39) |
W58* |
probably null |
Het |
Slc12a9 |
T |
C |
5: 137,320,705 (GRCm39) |
K555R |
probably damaging |
Het |
Smoc2 |
A |
T |
17: 14,556,872 (GRCm39) |
Q107L |
probably damaging |
Het |
Sytl1 |
T |
A |
4: 132,988,343 (GRCm39) |
R4S |
probably benign |
Het |
Tbc1d4 |
A |
G |
14: 101,695,549 (GRCm39) |
L963P |
probably damaging |
Het |
Tfdp2 |
G |
A |
9: 96,199,989 (GRCm39) |
|
probably benign |
Het |
Tmem63a |
A |
T |
1: 180,788,640 (GRCm39) |
M326L |
probably benign |
Het |
Vmn2r66 |
A |
G |
7: 84,656,182 (GRCm39) |
L278P |
probably damaging |
Het |
Wtap |
A |
G |
17: 13,202,398 (GRCm39) |
V11A |
possibly damaging |
Het |
Zcchc9 |
A |
T |
13: 91,954,172 (GRCm39) |
S28T |
possibly damaging |
Het |
Zfp12 |
C |
T |
5: 143,229,814 (GRCm39) |
|
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 |
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 |
2016-08-02 |