Incidental Mutation 'R4910:Pot1a'
ID 379383
Institutional Source Beutler Lab
Gene Symbol Pot1a
Ensembl Gene ENSMUSG00000029676
Gene Name protection of telomeres 1A
Synonyms 1500031H18Rik, Pot1
MMRRC Submission 042512-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4910 (G1)
Quality Score 209
Status Validated
Chromosome 6
Chromosomal Location 25743939-25809280 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) A to T at 25746020 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000131928 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115330] [ENSMUST00000166445]
AlphaFold Q91WC1
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 benign
Transcript: ENSMUST00000115330
SMART Domains Protein: ENSMUSP00000110986
Gene: ENSMUSG00000029676

DomainStartEndE-ValueType
Telo_bind 11 141 3.6e-53 SMART
Pfam:POT1PC 152 299 6.7e-41 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134339
Predicted Effect probably benign
Transcript: ENSMUST00000166445
SMART Domains Protein: ENSMUSP00000131928
Gene: ENSMUSG00000029676

DomainStartEndE-ValueType
Telo_bind 11 141 3.6e-53 SMART
low complexity region 253 260 N/A INTRINSIC
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 94.6%
  • 20x: 86.1%
Validation Efficiency 95% (144/151)
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: 123 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm3 T A 3: 59,776,435 (GRCm39) probably null Het
Adam3 T A 8: 25,184,321 (GRCm39) I560L probably benign Het
Agxt T C 1: 93,063,436 (GRCm39) F113L probably benign Het
Aknad1 T A 3: 108,688,568 (GRCm39) probably null Het
Alpk2 T A 18: 65,399,357 (GRCm39) K2074* probably null Het
Apob A G 12: 8,057,848 (GRCm39) Y2077C probably damaging Het
Arhgap17 A T 7: 122,907,600 (GRCm39) L254Q probably damaging Het
Arhgap26 T A 18: 39,126,690 (GRCm39) probably benign Het
Arhgef5 A G 6: 43,249,762 (GRCm39) D171G probably benign Het
Arid1b T A 17: 5,392,478 (GRCm39) S2003T probably damaging Het
Armc5 T G 7: 127,839,900 (GRCm39) L406R possibly damaging Het
Arsb T C 13: 93,908,485 (GRCm39) V67A probably benign Het
Aspm A G 1: 139,419,281 (GRCm39) Y2982C probably damaging Het
Bltp1 C A 3: 37,052,348 (GRCm39) T3016K probably damaging Het
Btbd7 A G 12: 102,774,307 (GRCm39) L487P probably damaging Het
Card11 C G 5: 140,860,169 (GRCm39) D1063H probably damaging Het
Ccdc186 G A 19: 56,787,123 (GRCm39) T615M probably damaging Het
Cd101 T A 3: 100,901,205 (GRCm39) T960S probably benign Het
Cdca7l C A 12: 117,837,520 (GRCm39) S191* probably null Het
Cemip A T 7: 83,646,619 (GRCm39) I143N probably damaging Het
Cep170 C T 1: 176,609,829 (GRCm39) E161K possibly damaging Het
Cfhr4 T G 1: 139,702,301 (GRCm39) D61A probably damaging Het
Chrm2 A T 6: 36,501,168 (GRCm39) T342S probably benign Het
Cib2 A G 9: 54,457,163 (GRCm39) F34L probably benign Het
Cnot1 A T 8: 96,459,859 (GRCm39) I1836N probably benign Het
Col4a3 C A 1: 82,650,400 (GRCm39) P552Q unknown Het
Cp T A 3: 20,043,388 (GRCm39) probably benign Het
Cul3 C T 1: 80,267,806 (GRCm39) V112I probably benign Het
Dcdc5 A G 2: 106,195,895 (GRCm39) noncoding transcript Het
Disp1 A T 1: 182,917,027 (GRCm39) V133E probably damaging Het
Dlg4 A G 11: 69,921,751 (GRCm39) D30G probably damaging Het
Dop1a C T 9: 86,374,114 (GRCm39) T191I probably damaging Het
Enam T G 5: 88,650,173 (GRCm39) S561A probably benign Het
Fbxw8 G T 5: 118,263,092 (GRCm39) probably null Het
Filip1 A G 9: 79,725,214 (GRCm39) V1135A probably benign Het
Galnt6 T C 15: 100,614,059 (GRCm39) T81A probably benign Het
Ghdc T C 11: 100,657,814 (GRCm39) K472E probably benign Het
Gm10568 T G 1: 3,751,164 (GRCm39) noncoding transcript Het
Gm4953 T A 1: 158,995,929 (GRCm39) noncoding transcript Het
Gm6871 T A 7: 41,223,016 (GRCm39) H24L probably benign Het
Gpr155 G A 2: 73,197,882 (GRCm39) Q413* probably null Het
Grhl2 A G 15: 37,291,920 (GRCm39) probably null Het
Ighv1-31 G C 12: 114,793,128 (GRCm39) S36* probably null Het
Ighv8-5 A G 12: 115,031,462 (GRCm39) S26P probably damaging Het
Igkv17-134 A C 6: 67,697,910 (GRCm39) probably benign Het
Igkv5-48 A C 6: 69,703,833 (GRCm39) L24R probably damaging Het
Isg20l2 T A 3: 87,846,570 (GRCm39) V340E probably damaging Het
Lrrtm1 A G 6: 77,221,884 (GRCm39) Y447C probably damaging Het
Ltbp1 T C 17: 75,634,287 (GRCm39) S855P probably damaging Het
Mgat4e A T 1: 134,469,602 (GRCm39) N147K probably damaging Het
Mlc1 A G 15: 88,842,415 (GRCm39) L315P possibly damaging Het
Mrgpra2a A G 7: 47,076,292 (GRCm39) V322A probably benign Het
Mroh7 T C 4: 106,567,152 (GRCm39) probably null Het
Mybpc1 T A 10: 88,391,586 (GRCm39) K304* probably null Het
Nlrp14 A C 7: 106,785,790 (GRCm39) D622A possibly damaging Het
Nlrp1b T A 11: 71,108,103 (GRCm39) H466L probably benign Het
Nlrp4d T A 7: 10,112,336 (GRCm39) noncoding transcript Het
Nrxn3 A G 12: 89,227,130 (GRCm39) E628G possibly damaging Het
Nup133 T C 8: 124,653,870 (GRCm39) R530G possibly damaging Het
Nup98 A G 7: 101,845,007 (GRCm39) S21P unknown Het
Or2h2b-ps1 T C 17: 37,480,934 (GRCm39) I202V probably benign Het
Or2l13b T C 16: 19,348,768 (GRCm39) T301A probably benign Het
Or4f14b A T 2: 111,775,423 (GRCm39) I126K possibly damaging Het
Or52e8 G A 7: 104,624,686 (GRCm39) P169S possibly damaging Het
Or5k1 T A 16: 58,617,805 (GRCm39) T135S probably benign Het
Or6c66 T C 10: 129,461,676 (GRCm39) T85A probably damaging Het
Or8c11 T A 9: 38,290,038 (GRCm39) V287E probably null Het
Otog A T 7: 45,913,486 (GRCm39) Y773F probably damaging Het
Otog A T 7: 45,947,958 (GRCm39) I2320F probably damaging Het
Otogl T C 10: 107,715,378 (GRCm39) S433G probably benign Het
Pcdhb17 A T 18: 37,618,212 (GRCm39) M1L possibly damaging Het
Pde7b T A 10: 20,600,480 (GRCm39) probably benign Het
Pgm1 T C 4: 99,820,724 (GRCm39) V207A probably damaging Het
Pkd1 T A 17: 24,791,661 (GRCm39) V1116E probably damaging Het
Pkd1l1 T A 11: 8,879,360 (GRCm39) Y497F possibly damaging Het
Pomgnt2 T C 9: 121,812,013 (GRCm39) N256S probably benign Het
Prdm9 T C 17: 15,764,585 (GRCm39) T732A probably benign Het
Prg4 T A 1: 150,331,574 (GRCm39) probably benign Het
Ptpro T C 6: 137,345,336 (GRCm39) V114A probably damaging Het
Pyurf A G 6: 57,668,933 (GRCm39) S20P unknown Het
Rasgrf1 A G 9: 89,858,805 (GRCm39) T488A probably benign Het
Rassf8 A T 6: 145,761,006 (GRCm39) K111* probably null Het
Reps1 A T 10: 17,983,436 (GRCm39) E426D probably damaging Het
Robo2 T C 16: 73,730,666 (GRCm39) K982R probably damaging Het
Rps23 T C 13: 91,071,871 (GRCm39) probably null Het
Scamp4 T A 10: 80,445,505 (GRCm39) V56E probably damaging Het
Serpina1c C T 12: 103,861,291 (GRCm39) V408I probably benign Het
Sigirr A G 7: 140,673,701 (GRCm39) W49R probably damaging Het
Slc17a6 A T 7: 51,308,489 (GRCm39) H271L possibly damaging Het
Slc7a5 G T 8: 122,611,861 (GRCm39) T389K probably damaging Het
Slf1 T A 13: 77,191,999 (GRCm39) H945L probably benign Het
Slit3 T C 11: 35,523,549 (GRCm39) S662P probably damaging Het
Snta1 C A 2: 154,218,938 (GRCm39) E466* probably null Het
Sowaha A G 11: 53,369,272 (GRCm39) L488P probably damaging Het
Spata17 C A 1: 186,926,208 (GRCm39) V41F probably damaging Het
Spta1 T A 1: 174,045,429 (GRCm39) probably null Het
Srrm2 T A 17: 24,034,362 (GRCm39) probably benign Het
Stard13 T C 5: 150,985,992 (GRCm39) N388S probably benign Het
Stmn3 T C 2: 180,950,630 (GRCm39) K59E probably damaging Het
Sval1 A G 6: 41,932,378 (GRCm39) N76S probably benign Het
Svep1 T C 4: 58,096,276 (GRCm39) H1448R possibly damaging Het
Sycp2 A T 2: 178,000,017 (GRCm39) D986E probably benign Het
Sytl5 C T X: 9,781,841 (GRCm39) P181L possibly damaging Het
Tbkbp1 G A 11: 97,029,956 (GRCm39) S400L probably benign Het
Tesc G T 5: 118,194,531 (GRCm39) probably benign Het
Tjp1 C T 7: 64,993,475 (GRCm39) G33R probably damaging Het
Tlr11 C A 14: 50,600,346 (GRCm39) F777L probably benign Het
Tmem156 A G 5: 65,248,805 (GRCm39) probably benign Het
Top3a A G 11: 60,643,204 (GRCm39) probably benign Het
Tpcn1 A G 5: 120,694,584 (GRCm39) W162R probably damaging Het
Tpd52l2 A T 2: 181,157,005 (GRCm39) probably benign Het
Trim80 G A 11: 115,337,281 (GRCm39) G381D probably damaging Het
Ugt1a10 C T 1: 88,142,845 (GRCm39) P113L probably damaging Het
Vmn2r117 TC T 17: 23,698,487 (GRCm39) probably null Het
Vmn2r56 T A 7: 12,449,462 (GRCm39) I259F possibly damaging Het
Vmn2r59 T C 7: 41,693,077 (GRCm39) T508A probably benign Het
Wdr73 A G 7: 80,541,456 (GRCm39) V362A probably damaging Het
Zdhhc21 G T 4: 82,738,568 (GRCm39) T207K possibly damaging Het
Zfp120 T A 2: 149,959,872 (GRCm39) Q150L probably damaging Het
Zfp212 C A 6: 47,908,433 (GRCm39) Q471K possibly damaging Het
Zfp804b C T 5: 6,820,540 (GRCm39) G841D possibly damaging Het
Znfx1 A T 2: 166,878,724 (GRCm39) M1884K probably damaging Het
Znfx1 G T 2: 166,879,402 (GRCm39) A1658D probably benign 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
R4895:Pot1a UTSW 6 25,753,205 (GRCm39) missense probably damaging 1.00
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'- GCTACAGATTTGAAACATGCTAGG -3'
(R):5'- TTGAAATTCCGTGCATTGAAGC -3'

Sequencing Primer
(F):5'- TTCTAAGAAAACAGAGAGAGAGAGAG -3'
(R):5'- CAGTTCACCATGTGTGTGC -3'
Posted On 2016-04-15