Incidental Mutation 'R0918:Pot1a'
ID 81534
Institutional Source Beutler Lab
Gene Symbol Pot1a
Ensembl Gene ENSMUSG00000029676
Gene Name protection of telomeres 1A
Synonyms 1500031H18Rik, Pot1
MMRRC Submission 039068-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0918 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 25743939-25809280 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 25756267 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 359 (T359M)
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 possibly damaging
Transcript: ENSMUST00000115330
AA Change: T359M

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000110986
Gene: ENSMUSG00000029676
AA Change: T359M

DomainStartEndE-ValueType
Telo_bind 11 141 3.6e-53 SMART
Pfam:POT1PC 152 299 6.7e-41 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000166445
AA Change: T359M

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000131928
Gene: ENSMUSG00000029676
AA Change: T359M

DomainStartEndE-ValueType
Telo_bind 11 141 3.6e-53 SMART
low complexity region 253 260 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.7%
  • 10x: 96.2%
  • 20x: 90.0%
Validation Efficiency
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadac T G 3: 59,946,953 (GRCm39) I217R probably damaging Het
Acp1 G T 12: 30,955,126 (GRCm39) S20* probably null Het
Adcy3 A G 12: 4,248,360 (GRCm39) D474G probably benign Het
Apob T C 12: 8,033,941 (GRCm39) I217T probably benign Het
Cdh12 G A 15: 21,492,685 (GRCm39) V235I probably damaging Het
Cdhr5 T A 7: 140,852,062 (GRCm39) T197S probably damaging Het
Cerkl A G 2: 79,163,973 (GRCm39) I449T probably benign Het
Cpz A G 5: 35,674,998 (GRCm39) Y84H probably damaging Het
Drosha T C 15: 12,842,619 (GRCm39) probably null Het
Fbxo11 A T 17: 88,305,031 (GRCm39) N613K probably damaging Het
Fes G T 7: 80,030,953 (GRCm39) T536K probably damaging Het
Gm13941 G C 2: 110,930,945 (GRCm39) T76R unknown Het
Lrp1 T C 10: 127,429,834 (GRCm39) E412G probably damaging Het
Map3k12 T C 15: 102,412,287 (GRCm39) I285V probably damaging Het
Map3k13 G A 16: 21,744,990 (GRCm39) D850N probably damaging Het
Mapk4 C T 18: 74,103,408 (GRCm39) V34M probably damaging Het
Morn1 T A 4: 155,171,928 (GRCm39) W43R probably damaging Het
Ncan T G 8: 70,561,039 (GRCm39) M643L possibly damaging Het
Npc1l1 G A 11: 6,168,239 (GRCm39) T984M probably damaging Het
Or14c44 A G 7: 86,062,403 (GRCm39) T278A probably benign Het
Or5a3 A G 19: 12,400,599 (GRCm39) K309E probably benign Het
Or5ak4 A G 2: 85,162,276 (GRCm39) probably benign Het
Or5p5 T C 7: 107,414,418 (GRCm39) I209T probably benign Het
Pcdhb22 T C 18: 37,653,067 (GRCm39) F255L probably damaging Het
Pi4ka T C 16: 17,103,124 (GRCm39) D1697G possibly damaging Het
Pla2g12b A G 10: 59,257,306 (GRCm39) D163G probably damaging Het
Sass6 G A 3: 116,397,172 (GRCm39) probably null Het
Scn1a C T 2: 66,153,651 (GRCm39) probably null Het
Slc38a1 A G 15: 96,507,743 (GRCm39) L103P probably damaging Het
Slc38a6 T A 12: 73,391,559 (GRCm39) probably null Het
Smarca4 C T 9: 21,547,511 (GRCm39) P265S probably benign Het
Snrpa1 A G 7: 65,720,363 (GRCm39) T189A probably benign Het
Snx11 G A 11: 96,660,104 (GRCm39) P195L possibly damaging Het
Spen T G 4: 141,212,875 (GRCm39) I584L unknown Het
Sult2a5 T A 7: 13,359,334 (GRCm39) H103Q probably benign Het
Syce1 T C 7: 140,360,436 (GRCm39) K50E probably damaging Het
Timm21 G C 18: 84,967,387 (GRCm39) L130V probably damaging Het
Tmem132a A G 19: 10,835,477 (GRCm39) S1018P probably damaging 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
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
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'- TCCCTTTGAGTCAGCAGCATTCTTG -3'
(R):5'- AGGTTGGCAGTGAACTGATTGACAC -3'

Sequencing Primer
(F):5'- atatatacacacacgcaaacacataC -3'
(R):5'- GTGTGCCTGGTACAGTATCCATC -3'
Posted On 2013-11-07