Incidental Mutation 'R4895:Pot1a'
ID 377561
Institutional Source Beutler Lab
Gene Symbol Pot1a
Ensembl Gene ENSMUSG00000029676
Gene Name protection of telomeres 1A
Synonyms 1500031H18Rik, Pot1
MMRRC Submission 042499-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4895 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 25743939-25809280 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 25753205 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Valine at position 444 (F444V)
Ref Sequence ENSEMBL: ENSMUSP00000131928 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115327] [ENSMUST00000115330] [ENSMUST00000166445]
AlphaFold Q91WC1
Predicted Effect probably benign
Transcript: ENSMUST00000115327
SMART Domains Protein: ENSMUSP00000110982
Gene: ENSMUSG00000029676

DomainStartEndE-ValueType
Telo_bind 11 141 3.6e-53 SMART
low complexity region 253 260 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000115329
SMART Domains Protein: ENSMUSP00000110984
Gene: ENSMUSG00000029676

DomainStartEndE-ValueType
Telo_bind 11 141 3.6e-53 SMART
low complexity region 253 260 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000115330
AA Change: F444V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110986
Gene: ENSMUSG00000029676
AA Change: F444V

DomainStartEndE-ValueType
Telo_bind 11 141 3.6e-53 SMART
Pfam:POT1PC 152 299 6.7e-41 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000166445
AA Change: F444V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131928
Gene: ENSMUSG00000029676
AA Change: F444V

DomainStartEndE-ValueType
Telo_bind 11 141 3.6e-53 SMART
low complexity region 253 260 N/A INTRINSIC
Meta Mutation Damage Score 0.6738 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency 98% (84/86)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the telombin family and encodes a nuclear protein involved in telomere maintenance. Specifically, this protein functions as a member of a multi-protein complex that binds to the TTAGGG repeats of telomeres, regulating telomere length and protecting chromosome ends from illegitimate recombination, catastrophic chromosome instability, and abnormal chromosome segregation. Increased transcriptional expression of this gene is associated with stomach carcinogenesis and its progression. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous inactivation of this gene leads to complete prenatal lethality. Embryos homozygous for a gene trapped allele fail to form an inner cell mass in culture. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930519P11Rik C A 2: 154,454,990 (GRCm39) probably benign Het
Abat G A 16: 8,433,826 (GRCm39) A392T probably benign Het
Abca14 G A 7: 119,846,572 (GRCm39) probably null Het
Abcc6 A T 7: 45,630,414 (GRCm39) L1282Q possibly damaging Het
Acss2 A G 2: 155,392,401 (GRCm39) probably benign Het
Adgrf1 G T 17: 43,621,511 (GRCm39) V583L probably benign Het
Aftph T C 11: 20,646,801 (GRCm39) D825G probably damaging Het
Ahnak T C 19: 8,994,805 (GRCm39) V5363A probably benign Het
Apba3 G A 10: 81,107,117 (GRCm39) probably null Het
Asb13 T C 13: 3,693,589 (GRCm39) Y116H probably damaging Het
Asb4 C A 6: 5,398,266 (GRCm39) T77K probably damaging Het
Atp8b4 A T 2: 126,256,289 (GRCm39) H223Q probably benign Het
Best1 A G 19: 9,970,135 (GRCm39) L159P probably benign Het
Cacna1h A T 17: 25,608,396 (GRCm39) M731K probably damaging Het
Catspere1 T A 1: 177,687,427 (GRCm39) noncoding transcript Het
Cenpv A T 11: 62,418,346 (GRCm39) Y202* probably null Het
Cep57 A T 9: 13,727,449 (GRCm39) probably benign Het
Cfap100 T A 6: 90,383,084 (GRCm39) D363V possibly damaging Het
Cluh A G 11: 74,558,231 (GRCm39) Y1126C probably damaging Het
Cyp2j5 A G 4: 96,551,347 (GRCm39) probably null Het
Dnajc11 T C 4: 152,064,390 (GRCm39) F514L probably damaging Het
Efcab3 C T 11: 104,611,112 (GRCm39) T318I probably benign Het
Efcab3 T A 11: 105,008,227 (GRCm39) probably benign Het
Efcab3 A G 11: 104,640,496 (GRCm39) D1026G probably damaging Het
Eif2b4 T G 5: 31,350,298 (GRCm39) Q8P probably benign Het
Epha6 A T 16: 59,486,918 (GRCm39) V1043E probably benign Het
Gm11562 G T 11: 99,511,141 (GRCm39) Q20K unknown Het
Gm14415 A T 2: 176,796,114 (GRCm39) noncoding transcript Het
Gm5431 A G 11: 48,779,855 (GRCm39) S634P probably damaging Het
Gpld1 C A 13: 25,163,711 (GRCm39) N501K probably damaging Het
Gsn C T 2: 35,192,590 (GRCm39) R513C probably damaging Het
Gulp1 T C 1: 44,827,757 (GRCm39) F300L probably benign Het
H2aj T C 6: 136,785,660 (GRCm39) V108A possibly damaging Het
Haus3 T C 5: 34,325,414 (GRCm39) R82G probably benign Het
Herc2 G A 7: 55,872,734 (GRCm39) R4424H probably damaging Het
Hmcn1 T A 1: 150,553,130 (GRCm39) Q2520L probably benign Het
Hs2st1 T C 3: 144,171,014 (GRCm39) I53V probably benign Het
Inpp5e C T 2: 26,287,924 (GRCm39) R624Q probably damaging Het
Ints8 G T 4: 11,230,367 (GRCm39) C491* probably null Het
Itpkb C A 1: 180,241,460 (GRCm39) A710D probably damaging Het
Kcnk4 A C 19: 6,905,784 (GRCm39) probably null Het
Kmt2d T C 15: 98,742,368 (GRCm39) probably benign Het
Lamb3 C T 1: 193,014,622 (GRCm39) R594* probably null Het
Map3k20 A G 2: 72,232,700 (GRCm39) probably benign Het
Maz A T 7: 126,624,472 (GRCm39) probably null Het
Mtr T C 13: 12,231,752 (GRCm39) T651A probably benign Het
Nbeal1 A G 1: 60,332,062 (GRCm39) E2252G probably damaging Het
Ndufa10 A G 1: 92,397,618 (GRCm39) Y61H probably damaging Het
Npat T A 9: 53,481,789 (GRCm39) L1166M probably damaging Het
Or12e1 A C 2: 87,022,192 (GRCm39) I54L probably benign Het
Or4c108 A T 2: 88,804,055 (GRCm39) F60Y probably benign Het
Or5ak20 A T 2: 85,183,341 (GRCm39) *310K probably null Het
Or5b97 C T 19: 12,878,251 (GRCm39) V298M probably damaging Het
Or5h22 C T 16: 58,895,020 (GRCm39) C141Y probably benign Het
Or5p66 A C 7: 107,885,802 (GRCm39) I177S probably damaging Het
Pcdhb3 T C 18: 37,434,759 (GRCm39) F242L probably damaging Het
Phip A G 9: 82,841,648 (GRCm39) V57A probably benign Het
Plekha7 A T 7: 115,788,626 (GRCm39) probably null Het
Ppm1a C T 12: 72,831,126 (GRCm39) P217L probably damaging Het
Prepl A G 17: 85,388,494 (GRCm39) F203S probably damaging Het
Prl8a1 T C 13: 27,759,513 (GRCm39) I175V probably benign Het
Ranbp6 A T 19: 29,787,175 (GRCm39) I1059N possibly damaging Het
Rhag A G 17: 41,122,242 (GRCm39) Q59R probably benign Het
Sema4c A C 1: 36,592,651 (GRCm39) probably null Het
Sf3b3 T C 8: 111,542,656 (GRCm39) D902G probably benign Het
Tbc1d23 A G 16: 57,019,220 (GRCm39) probably null Het
Tbrg1 A T 9: 37,566,375 (GRCm39) I54N probably damaging Het
Tchh A T 3: 93,352,993 (GRCm39) E811V unknown Het
Tenm3 T A 8: 48,754,006 (GRCm39) D799V probably damaging Het
Tlr5 T C 1: 182,801,764 (GRCm39) L342P probably damaging Het
Tppp C T 13: 74,178,996 (GRCm39) R146* probably null Het
Trpm4 A T 7: 44,967,482 (GRCm39) M574K probably damaging Het
Uggt1 A T 1: 36,195,345 (GRCm39) F1288Y probably damaging Het
Uggt2 T A 14: 119,256,298 (GRCm39) K1124N probably damaging Het
Usf3 A C 16: 44,041,459 (GRCm39) S1980R possibly damaging Het
Vav2 T C 2: 27,208,973 (GRCm39) D100G probably damaging Het
Vmn2r3 G T 3: 64,167,182 (GRCm39) H650N probably benign Het
Vmn2r59 T A 7: 41,695,218 (GRCm39) Y398F probably damaging Het
Zfp619 A G 7: 39,187,396 (GRCm39) D1142G possibly damaging Het
Zfp933 G A 4: 147,910,892 (GRCm39) R235* probably null Het
Other mutations in Pot1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00857:Pot1a APN 6 25,744,627 (GRCm39) missense probably benign 0.01
IGL01393:Pot1a APN 6 25,744,630 (GRCm39) nonsense probably null
IGL01411:Pot1a APN 6 25,750,143 (GRCm39) splice site probably benign
IGL01774:Pot1a APN 6 25,753,276 (GRCm39) missense probably benign 0.00
IGL01981:Pot1a APN 6 25,750,099 (GRCm39) missense probably damaging 1.00
IGL02404:Pot1a APN 6 25,764,431 (GRCm39) splice site probably benign
IGL02530:Pot1a APN 6 25,794,592 (GRCm39) missense probably damaging 1.00
IGL02755:Pot1a APN 6 25,771,612 (GRCm39) missense possibly damaging 0.81
IGL03127:Pot1a APN 6 25,794,615 (GRCm39) missense probably benign 0.00
IGL03396:Pot1a APN 6 25,745,913 (GRCm39) missense possibly damaging 0.93
BB001:Pot1a UTSW 6 25,753,309 (GRCm39) missense possibly damaging 0.94
BB011:Pot1a UTSW 6 25,753,309 (GRCm39) missense possibly damaging 0.94
R0329:Pot1a UTSW 6 25,778,830 (GRCm39) splice site probably benign
R0359:Pot1a UTSW 6 25,771,679 (GRCm39) splice site probably benign
R0530:Pot1a UTSW 6 25,771,540 (GRCm39) missense possibly damaging 0.86
R0840:Pot1a UTSW 6 25,748,283 (GRCm39) splice site probably benign
R0918:Pot1a UTSW 6 25,756,267 (GRCm39) missense possibly damaging 0.92
R1650:Pot1a UTSW 6 25,745,964 (GRCm39) missense probably damaging 1.00
R1937:Pot1a UTSW 6 25,753,323 (GRCm39) missense probably benign 0.15
R2142:Pot1a UTSW 6 25,750,043 (GRCm39) splice site probably null
R4072:Pot1a UTSW 6 25,752,356 (GRCm39) splice site probably null
R4074:Pot1a UTSW 6 25,752,356 (GRCm39) splice site probably null
R4322:Pot1a UTSW 6 25,745,929 (GRCm39) missense probably benign 0.02
R4910:Pot1a UTSW 6 25,746,020 (GRCm39) intron probably benign
R4933:Pot1a UTSW 6 25,771,540 (GRCm39) missense possibly damaging 0.86
R5530:Pot1a UTSW 6 25,778,893 (GRCm39) missense probably damaging 1.00
R5748:Pot1a UTSW 6 25,758,855 (GRCm39) missense possibly damaging 0.77
R5775:Pot1a UTSW 6 25,757,297 (GRCm39) splice site probably null
R5870:Pot1a UTSW 6 25,778,950 (GRCm39) missense possibly damaging 0.90
R6180:Pot1a UTSW 6 25,771,620 (GRCm39) missense probably benign 0.00
R6377:Pot1a UTSW 6 25,778,869 (GRCm39) missense probably benign 0.06
R7251:Pot1a UTSW 6 25,752,497 (GRCm39) splice site probably null
R7457:Pot1a UTSW 6 25,771,621 (GRCm39) missense probably benign 0.26
R7679:Pot1a UTSW 6 25,771,633 (GRCm39) missense probably benign 0.16
R7717:Pot1a UTSW 6 25,758,822 (GRCm39) missense probably benign 0.45
R7924:Pot1a UTSW 6 25,753,309 (GRCm39) missense possibly damaging 0.94
R8078:Pot1a UTSW 6 25,750,107 (GRCm39) missense probably benign 0.13
R8084:Pot1a UTSW 6 25,771,535 (GRCm39) missense possibly damaging 0.81
R8170:Pot1a UTSW 6 25,758,802 (GRCm39) makesense probably null
R9070:Pot1a UTSW 6 25,744,629 (GRCm39) missense
R9525:Pot1a UTSW 6 25,745,916 (GRCm39) missense probably benign 0.06
R9574:Pot1a UTSW 6 25,775,718 (GRCm39) missense possibly damaging 0.73
R9638:Pot1a UTSW 6 25,750,106 (GRCm39) nonsense probably null
R9698:Pot1a UTSW 6 25,744,615 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- ACAATTCAGGTAAAAGTGTTTGGTCAT -3'
(R):5'- AGCCTTTTCTGATTCTTCATTATCAA -3'

Sequencing Primer
(F):5'- CTAGGTGCCTATAAGGCA -3'
(R):5'- AGCTCCAGACATCAAGCT -3'
Posted On 2016-03-17