Incidental Mutation 'IGL02755:Pot1a'
ID306391
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pot1a
Ensembl Gene ENSMUSG00000029676
Gene Nameprotection of telomeres 1A
Synonyms1500031H18Rik, Pot1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02755
Quality Score
Status
Chromosome6
Chromosomal Location25743737-25809246 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 25771613 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Serine at position 203 (F203S)
Ref Sequence ENSEMBL: ENSMUSP00000131928 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115327] [ENSMUST00000115330] [ENSMUST00000166445]
Predicted Effect possibly damaging
Transcript: ENSMUST00000115327
AA Change: F203S

PolyPhen 2 Score 0.456 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000110982
Gene: ENSMUSG00000029676
AA Change: F203S

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: F203S

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000110986
Gene: ENSMUSG00000029676
AA Change: F203S

DomainStartEndE-ValueType
Telo_bind 11 141 3.6e-53 SMART
Pfam:POT1PC 152 299 6.7e-41 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156985
Predicted Effect possibly damaging
Transcript: ENSMUST00000166445
AA Change: F203S

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000131928
Gene: ENSMUSG00000029676
AA Change: F203S

DomainStartEndE-ValueType
Telo_bind 11 141 3.6e-53 SMART
low complexity region 253 260 N/A INTRINSIC
Coding Region Coverage
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930512M02Rik T A 11: 11,589,358 N189I unknown Het
Adamts19 T A 18: 58,969,933 I682K probably benign Het
Adra1a G A 14: 66,727,661 V367I probably benign Het
Alpk3 A G 7: 81,093,759 E1108G possibly damaging Het
Ccdc186 A T 19: 56,813,396 N96K probably benign Het
Ccnb1 A G 13: 100,781,660 Y160H possibly damaging Het
Cebpz A T 17: 78,931,330 V683E probably damaging Het
Cep104 A G 4: 153,996,959 H786R possibly damaging Het
Chd9 T C 8: 91,033,582 I1985T probably benign Het
Cntn2 T A 1: 132,529,302 T36S probably benign Het
Cntnap5c T C 17: 58,364,194 S1126P probably benign Het
Cpt2 A T 4: 107,907,775 V264E probably damaging Het
Degs2 T C 12: 108,692,583 T46A probably benign Het
Dip2c T C 13: 9,550,320 probably null Het
Dnaaf1 A G 8: 119,590,671 D313G probably damaging Het
Ephb3 T G 16: 21,221,698 D561E probably damaging Het
Eps15 A G 4: 109,329,698 T321A probably benign Het
Ercc6 A G 14: 32,575,748 probably benign Het
Gcn1l1 T A 5: 115,604,006 probably null Het
Gm28177 G A 1: 52,096,872 probably benign Het
Gucy2g C A 19: 55,210,354 V786F probably benign Het
H2-M3 T C 17: 37,271,022 V123A possibly damaging Het
Hmgxb3 T C 18: 61,172,188 K33E probably damaging Het
Ift22 T C 5: 136,911,786 W102R probably damaging Het
Lgi4 T C 7: 31,063,105 F44L probably damaging Het
Lingo3 T C 10: 80,836,009 E29G possibly damaging Het
Nf2 A G 11: 4,818,542 L109P probably damaging Het
Ntrk3 T C 7: 78,460,439 H349R probably benign Het
Olfr767 T A 10: 129,079,196 M256L probably benign Het
Otub1 T A 19: 7,206,259 M1L probably benign Het
Pkp3 A G 7: 141,088,405 probably null Het
Popdc3 C A 10: 45,315,218 H142N probably damaging Het
Prdx5 A G 19: 6,909,595 V8A probably benign Het
Rabgap1 T C 2: 37,537,314 Y636H probably damaging Het
Rad51d A T 11: 82,881,632 I236N probably benign Het
Reep3 G T 10: 67,021,877 T145K possibly damaging Het
Samd3 G T 10: 26,244,577 L156F probably damaging Het
Sh3bp5l A G 11: 58,338,003 T101A probably benign Het
Slc3a1 T C 17: 85,037,177 V257A probably damaging Het
Sptbn1 A G 11: 30,142,247 V506A probably damaging Het
Stab1 A T 14: 31,139,638 S2471T probably benign Het
Vmn2r85 T C 10: 130,425,512 T319A probably damaging Het
Vmn2r94 C T 17: 18,244,499 V510I probably benign Het
Wscd2 T A 5: 113,574,031 M337K possibly damaging Het
Zfp866 A G 8: 69,766,640 probably null Het
Other mutations in Pot1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00857:Pot1a APN 6 25744628 missense probably benign 0.01
IGL01393:Pot1a APN 6 25744631 nonsense probably null
IGL01411:Pot1a APN 6 25750144 splice site probably benign
IGL01774:Pot1a APN 6 25753277 missense probably benign 0.00
IGL01981:Pot1a APN 6 25750100 missense probably damaging 1.00
IGL02404:Pot1a APN 6 25764432 splice site probably benign
IGL02530:Pot1a APN 6 25794593 missense probably damaging 1.00
IGL03127:Pot1a APN 6 25794616 missense probably benign 0.00
IGL03396:Pot1a APN 6 25745914 missense possibly damaging 0.93
R0329:Pot1a UTSW 6 25778831 splice site probably benign
R0359:Pot1a UTSW 6 25771680 splice site probably benign
R0530:Pot1a UTSW 6 25771541 missense possibly damaging 0.86
R0840:Pot1a UTSW 6 25748284 splice site probably benign
R0918:Pot1a UTSW 6 25756268 missense possibly damaging 0.92
R1650:Pot1a UTSW 6 25745965 missense probably damaging 1.00
R1937:Pot1a UTSW 6 25753324 missense probably benign 0.15
R2142:Pot1a UTSW 6 25750044 splice site probably null
R4072:Pot1a UTSW 6 25752357 splice site probably null
R4074:Pot1a UTSW 6 25752357 splice site probably null
R4322:Pot1a UTSW 6 25745930 missense probably benign 0.02
R4895:Pot1a UTSW 6 25753206 missense probably damaging 1.00
R4910:Pot1a UTSW 6 25746021 intron probably benign
R4933:Pot1a UTSW 6 25771541 missense possibly damaging 0.86
R5530:Pot1a UTSW 6 25778894 missense probably damaging 1.00
R5748:Pot1a UTSW 6 25758856 missense possibly damaging 0.77
R5775:Pot1a UTSW 6 25757298 splice site probably null
R5870:Pot1a UTSW 6 25778951 missense possibly damaging 0.90
R6180:Pot1a UTSW 6 25771621 missense probably benign 0.00
R6377:Pot1a UTSW 6 25778870 missense probably benign 0.06
Posted On2015-04-16