Incidental Mutation 'IGL01796:Pot1b'
ID 155369
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) question?
Stock # IGL01796
Quality Score
Status
Chromosome 17
Chromosomal Location 55958951-56019628 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 55976750 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 391 (C391S)
Ref Sequence ENSEMBL: ENSMUSP00000084089 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086876]
AlphaFold H7BX60
Predicted Effect possibly damaging
Transcript: ENSMUST00000086876
AA Change: C391S

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000084089
Gene: ENSMUSG00000024174
AA Change: C391S

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
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aacs T C 5: 125,590,273 (GRCm39) Y511H probably damaging Het
Abca7 T G 10: 79,849,743 (GRCm39) Y1948D probably damaging Het
Adgrl2 C A 3: 148,564,611 (GRCm39) G319V probably damaging Het
Adgrv1 T A 13: 81,715,461 (GRCm39) D909V probably benign Het
Anapc16 T C 10: 59,824,579 (GRCm39) E119G possibly damaging Het
C1qtnf12 T C 4: 156,050,886 (GRCm39) V285A possibly damaging Het
Cbr1 A C 16: 93,405,119 (GRCm39) N89T probably damaging Het
Cdh23 T A 10: 60,146,916 (GRCm39) Q2778L probably benign Het
Clca4c-ps A G 3: 144,595,340 (GRCm39) noncoding transcript Het
Cst9 T C 2: 148,677,269 (GRCm39) F47L probably damaging Het
Dqx1 T C 6: 83,043,408 (GRCm39) probably benign Het
Dus4l T C 12: 31,692,794 (GRCm39) S150G probably benign Het
E2f2 A T 4: 135,907,728 (GRCm39) K142* probably null Het
Eif2ak4 T A 2: 118,276,785 (GRCm39) H169Q probably benign Het
Fmo9 C T 1: 166,490,904 (GRCm39) A525T probably benign Het
Gm42878 T C 5: 121,683,247 (GRCm39) D6G probably benign Het
Igfals A G 17: 25,099,056 (GRCm39) Y49C probably damaging Het
Il22b T C 10: 118,126,069 (GRCm39) N176S possibly damaging Het
Ipo7 T C 7: 109,629,055 (GRCm39) probably benign Het
Itga1 T C 13: 115,121,657 (GRCm39) E784G probably damaging Het
Jcad G T 18: 4,672,855 (GRCm39) E206* probably null Het
Kif24 A T 4: 41,392,978 (GRCm39) probably benign Het
Lrrc2 T A 9: 110,809,886 (GRCm39) probably null Het
Ltbp1 A G 17: 75,534,240 (GRCm39) probably benign Het
Man2c1 C T 9: 57,045,244 (GRCm39) T451I possibly damaging Het
Manba T A 3: 135,248,150 (GRCm39) N346K probably damaging Het
Nell1 T C 7: 49,825,964 (GRCm39) probably benign Het
Nfat5 T C 8: 108,094,273 (GRCm39) V744A probably damaging Het
Nms T C 1: 38,985,192 (GRCm39) M98T possibly damaging Het
Nos1 A T 5: 118,076,339 (GRCm39) K1120* probably null Het
Or11g25 C A 14: 50,722,998 (GRCm39) Q28K probably benign Het
Plekho1 C T 3: 95,898,147 (GRCm39) R172H probably damaging Het
Scn1a G A 2: 66,162,645 (GRCm39) probably benign Het
Sgce T G 6: 4,711,326 (GRCm39) N149H probably damaging Het
Slc45a1 A G 4: 150,728,426 (GRCm39) W126R probably damaging Het
Slc9a1 G A 4: 133,147,404 (GRCm39) probably benign Het
Tmem131l T A 3: 83,845,362 (GRCm39) K423* probably null Het
Tnrc18 C T 5: 142,750,642 (GRCm39) E1444K possibly damaging Het
Tpp1 T C 7: 105,396,857 (GRCm39) probably benign Het
Trip12 A C 1: 84,705,999 (GRCm39) S610R probably benign Het
Ushbp1 G T 8: 71,840,076 (GRCm39) A525E probably benign Het
Vmn2r106 A T 17: 20,488,314 (GRCm39) M695K possibly damaging Het
Vmn2r118 A G 17: 55,915,585 (GRCm39) I455T probably benign Het
Zbtb41 T C 1: 139,370,621 (GRCm39) F686S probably damaging Het
Other mutations in Pot1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01484:Pot1b APN 17 56,002,160 (GRCm39) missense possibly damaging 0.94
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
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