Incidental Mutation 'IGL01484:Pot1b'
ID88862
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pot1b
Ensembl Gene ENSMUSG00000024174
Gene Nameprotection of telomeres 1B
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01484
Quality Score
Status
Chromosome17
Chromosomal Location55652025-55712628 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 55695160 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Methionine at position 138 (T138M)
Ref Sequence ENSEMBL: ENSMUSP00000084089 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086876]
Predicted Effect possibly damaging
Transcript: ENSMUST00000086876
AA Change: T138M

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000084089
Gene: ENSMUSG00000024174
AA Change: T138M

DomainStartEndE-ValueType
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 0.1795 question?
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd36 A G 11: 5,629,006 H90R possibly damaging Het
Arsj A G 3: 126,365,036 D88G probably damaging Het
Clca4b C T 3: 144,928,235 V140I probably benign Het
Dagla A C 19: 10,248,520 L760R possibly damaging Het
Dnah1 T C 14: 31,299,940 E1202G probably damaging Het
Hdac9 T C 12: 34,437,165 H100R probably damaging Het
Hhip T C 8: 79,996,783 H414R probably damaging Het
Hk2 G A 6: 82,736,730 T457M probably damaging Het
Iapp A G 6: 142,303,439 T73A possibly damaging Het
Ifit1 A G 19: 34,648,843 N460D probably damaging Het
Itpa T C 2: 130,672,099 F77L probably benign Het
Knop1 T C 7: 118,852,809 D229G probably damaging Het
Lrrc32 T C 7: 98,494,235 I5T probably damaging Het
Myo7a C T 7: 98,085,422 V622M probably damaging Het
N4bp1 T C 8: 86,844,772 E866G probably damaging Het
Olfr330 A T 11: 58,529,396 W197R probably benign Het
Palmd G A 3: 116,953,145 probably benign Het
Pcbp4 A G 9: 106,460,649 probably null Het
Pigf T C 17: 87,008,880 I157V probably benign Het
Prl7a2 T A 13: 27,659,208 D204V probably damaging Het
Rfc3 A T 5: 151,642,936 D349E probably benign Het
Sarm1 A T 11: 78,491,013 C215S probably damaging Het
Serpine1 T C 5: 137,063,472 probably benign Het
Strip1 A G 3: 107,613,259 V825A probably damaging Het
Stx12 A G 4: 132,884,362 S2P probably damaging Het
Sycp1 A C 3: 102,915,867 S311R probably benign Het
Tfpi A T 2: 84,444,825 C139* probably null Het
Tmc5 T A 7: 118,656,787 I695N probably damaging Het
Tmem169 T C 1: 72,301,104 V231A probably damaging Het
Ttbk2 T G 2: 120,739,833 S1211R possibly damaging Het
Ubr3 C T 2: 70,021,544 R1855* probably null Het
Urb1 A T 16: 90,777,560 S878T probably benign Het
Vmn1r174 T A 7: 23,754,324 Y138* probably null Het
Zfp282 A G 6: 47,890,120 N214D possibly damaging Het
Other mutations in Pot1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01796:Pot1b APN 17 55669750 missense possibly damaging 0.53
IGL01810:Pot1b APN 17 55662521 missense possibly damaging 0.68
IGL02371:Pot1b APN 17 55695092 missense possibly damaging 0.91
IGL02553:Pot1b APN 17 55695024 splice site probably benign
IGL02957:Pot1b APN 17 55700009 missense probably damaging 0.99
IGL02975:Pot1b APN 17 55662454 splice site probably benign
IGL03172:Pot1b APN 17 55695206 missense possibly damaging 0.60
boulder UTSW 17 55672865 nonsense probably null
erosion UTSW 17 55687834 missense probably damaging 0.99
G1Funyon:Pot1b UTSW 17 55687895 missense probably benign
R0020:Pot1b UTSW 17 55653429 missense probably benign 0.03
R0540:Pot1b UTSW 17 55665765 missense probably damaging 0.98
R0607:Pot1b UTSW 17 55665765 missense probably damaging 0.98
R0882:Pot1b UTSW 17 55666400 splice site probably benign
R1164:Pot1b UTSW 17 55674085 missense probably benign 0.18
R1476:Pot1b UTSW 17 55653451 missense possibly damaging 0.73
R1874:Pot1b UTSW 17 55654805 missense probably benign
R1955:Pot1b UTSW 17 55674067 missense possibly damaging 0.73
R1960:Pot1b UTSW 17 55662531 missense probably damaging 0.99
R1961:Pot1b UTSW 17 55662531 missense probably damaging 0.99
R2109:Pot1b UTSW 17 55653413 missense probably benign 0.00
R2895:Pot1b UTSW 17 55687939 missense probably damaging 0.98
R2943:Pot1b UTSW 17 55674058 missense probably benign
R4681:Pot1b UTSW 17 55654831 missense probably benign 0.28
R4763:Pot1b UTSW 17 55695160 missense possibly damaging 0.94
R4821:Pot1b UTSW 17 55672885 missense possibly damaging 0.73
R5079:Pot1b UTSW 17 55669801 missense probably benign 0.18
R5146:Pot1b UTSW 17 55672865 nonsense probably null
R5176:Pot1b UTSW 17 55699995 missense probably benign 0.05
R5394:Pot1b UTSW 17 55700063 missense probably benign 0.19
R5752:Pot1b UTSW 17 55687834 missense probably damaging 0.99
R6866:Pot1b UTSW 17 55653474 missense possibly damaging 0.83
R8301:Pot1b UTSW 17 55687895 missense probably benign
R8390:Pot1b UTSW 17 55692739 missense probably benign 0.00
R8750:Pot1b UTSW 17 55666537 missense probably benign
RF014:Pot1b UTSW 17 55674106 missense probably benign 0.12
X0062:Pot1b UTSW 17 55695154 missense probably damaging 0.98
Posted On2013-11-18