Incidental Mutation 'IGL02957:Pot1b'
ID |
365159 |
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 # |
IGL02957
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
55958951-56019628 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 56007009 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 36
(Y36C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000084089
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086876]
|
AlphaFold |
H7BX60 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000086876
AA Change: Y36C
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000084089 Gene: ENSMUSG00000024174 AA Change: Y36C
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abi2 |
A |
G |
1: 60,509,945 (GRCm39) |
D262G |
probably damaging |
Het |
Abtb3 |
T |
A |
10: 85,469,701 (GRCm39) |
M405K |
probably damaging |
Het |
Abtb3 |
C |
T |
10: 85,467,150 (GRCm39) |
|
probably benign |
Het |
Ahcyl1 |
G |
T |
3: 107,574,958 (GRCm39) |
Q462K |
probably damaging |
Het |
C8b |
A |
G |
4: 104,623,652 (GRCm39) |
T20A |
probably benign |
Het |
Casd1 |
T |
A |
6: 4,634,068 (GRCm39) |
Y594N |
possibly damaging |
Het |
Crtc2 |
C |
T |
3: 90,169,840 (GRCm39) |
P412L |
probably damaging |
Het |
Cyp3a44 |
T |
A |
5: 145,716,472 (GRCm39) |
R373* |
probably null |
Het |
Dnah10 |
A |
G |
5: 124,840,197 (GRCm39) |
D1277G |
probably benign |
Het |
Dnah2 |
A |
T |
11: 69,339,333 (GRCm39) |
V3058E |
possibly damaging |
Het |
Eif3l |
T |
C |
15: 78,974,028 (GRCm39) |
L481P |
probably benign |
Het |
Fbxw7 |
A |
T |
3: 84,883,544 (GRCm39) |
T573S |
probably benign |
Het |
Fcgbp |
C |
A |
7: 27,791,272 (GRCm39) |
Y844* |
probably null |
Het |
Fcrl2 |
C |
A |
3: 87,169,501 (GRCm39) |
V13F |
possibly damaging |
Het |
Gbx2 |
T |
G |
1: 89,858,375 (GRCm39) |
S35R |
probably benign |
Het |
H2-M9 |
A |
G |
17: 36,953,049 (GRCm39) |
L86S |
probably benign |
Het |
Hebp1 |
C |
T |
6: 135,114,990 (GRCm39) |
G157D |
probably benign |
Het |
Igf2bp3 |
C |
A |
6: 49,064,338 (GRCm39) |
V560L |
probably benign |
Het |
Igsf10 |
A |
G |
3: 59,238,285 (GRCm39) |
I632T |
probably damaging |
Het |
Kcnab2 |
A |
T |
4: 152,520,326 (GRCm39) |
S5T |
possibly damaging |
Het |
Kcnh5 |
T |
C |
12: 75,054,439 (GRCm39) |
S502G |
probably benign |
Het |
Lpcat2 |
T |
A |
8: 93,602,212 (GRCm39) |
Y224* |
probably null |
Het |
Mcrip2 |
A |
G |
17: 26,087,499 (GRCm39) |
V24A |
probably damaging |
Het |
Mttp |
T |
C |
3: 137,814,842 (GRCm39) |
K493E |
possibly damaging |
Het |
Myl7 |
A |
G |
11: 5,847,137 (GRCm39) |
S139P |
possibly damaging |
Het |
Npepps |
C |
T |
11: 97,133,478 (GRCm39) |
R268H |
probably damaging |
Het |
Oas1c |
C |
T |
5: 120,943,478 (GRCm39) |
W18* |
probably null |
Het |
Or10ak7 |
G |
T |
4: 118,791,316 (GRCm39) |
T241N |
probably damaging |
Het |
P4ha3 |
T |
C |
7: 99,968,112 (GRCm39) |
|
probably benign |
Het |
Pate14 |
G |
T |
9: 36,549,146 (GRCm39) |
T38K |
probably benign |
Het |
Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
Pkhd1l1 |
T |
A |
15: 44,376,304 (GRCm39) |
W989R |
probably damaging |
Het |
Podxl |
A |
G |
6: 31,505,384 (GRCm39) |
|
probably benign |
Het |
Ppme1 |
A |
T |
7: 99,987,647 (GRCm39) |
I103K |
possibly damaging |
Het |
Ppp1r12a |
T |
C |
10: 108,034,779 (GRCm39) |
I108T |
probably damaging |
Het |
Pramel1 |
A |
G |
4: 143,124,168 (GRCm39) |
H281R |
probably benign |
Het |
Prep |
T |
C |
10: 45,002,126 (GRCm39) |
V427A |
probably benign |
Het |
Prkce |
A |
G |
17: 86,803,454 (GRCm39) |
D451G |
possibly damaging |
Het |
Prrc2c |
A |
G |
1: 162,534,104 (GRCm39) |
|
probably benign |
Het |
Ramacl |
A |
T |
13: 67,056,277 (GRCm39) |
|
probably benign |
Het |
Rrm2 |
A |
G |
12: 24,758,440 (GRCm39) |
N32S |
probably damaging |
Het |
Sema6a |
A |
G |
18: 47,382,291 (GRCm39) |
L752P |
probably damaging |
Het |
Sik3 |
T |
A |
9: 46,107,143 (GRCm39) |
I429N |
possibly damaging |
Het |
Slc22a29 |
A |
G |
19: 8,147,354 (GRCm39) |
L336P |
probably benign |
Het |
Stk32a |
A |
T |
18: 43,445,057 (GRCm39) |
M284L |
probably benign |
Het |
Syde2 |
T |
C |
3: 145,694,934 (GRCm39) |
|
probably benign |
Het |
Tcta |
G |
A |
9: 108,182,531 (GRCm39) |
S91F |
possibly damaging |
Het |
Traf3ip2 |
A |
T |
10: 39,530,406 (GRCm39) |
T517S |
probably damaging |
Het |
Trpv3 |
A |
G |
11: 73,176,698 (GRCm39) |
Y359C |
probably damaging |
Het |
Vmn1r66 |
A |
G |
7: 10,008,737 (GRCm39) |
S99P |
probably damaging |
Het |
Vmn2r8 |
G |
A |
5: 108,950,091 (GRCm39) |
T252M |
probably benign |
Het |
Wdr27 |
A |
T |
17: 15,130,372 (GRCm39) |
|
probably benign |
Het |
Yipf1 |
A |
G |
4: 107,193,347 (GRCm39) |
T78A |
probably damaging |
Het |
Zfp735 |
A |
T |
11: 73,601,755 (GRCm39) |
Y233F |
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 |
|
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 |
2015-12-18 |