Incidental Mutation 'IGL03396:Pot1a'
ID 421248
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pot1a
Ensembl Gene ENSMUSG00000029676
Gene Name protection of telomeres 1A
Synonyms 1500031H18Rik, Pot1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock # IGL03396
Quality Score
Status
Chromosome 6
Chromosomal Location 25743737-25809246 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to C at 25745914 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Arginine at position 596 (I596R)
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 possibly damaging
Transcript: ENSMUST00000115330
AA Change: I596R

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000110986
Gene: ENSMUSG00000029676
AA Change: I596R

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 possibly damaging
Transcript: ENSMUST00000166445
AA Change: I596R

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000131928
Gene: ENSMUSG00000029676
AA Change: I596R

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadvl G A 11: 70,011,413 R457* probably null Het
Arl5b C A 2: 15,075,104 T153K probably damaging Het
Arsb A T 13: 93,939,317 Y436F probably benign Het
Azgp1 C T 5: 137,985,183 P40L possibly damaging Het
B020004C17Rik A G 14: 57,016,536 T39A possibly damaging Het
Cacna2d3 G A 14: 29,720,877 Q67* probably null Het
Cdcp2 C A 4: 107,107,172 Y406* probably null Het
Cep89 T A 7: 35,429,178 D585E probably benign Het
Cfap65 A G 1: 74,904,642 F1570S probably damaging Het
Cnfn A G 7: 25,368,358 probably benign Het
Fgd6 G A 10: 94,044,456 V391I probably benign Het
Fra10ac1 C T 19: 38,201,546 probably null Het
Gjc1 T C 11: 102,800,527 K217E probably benign Het
Il20rb T C 9: 100,459,198 E285G probably damaging Het
Ints2 T C 11: 86,213,062 T1086A probably damaging Het
Itih4 A T 14: 30,887,949 I79F probably damaging Het
Jmjd6 A T 11: 116,841,251 L208H probably damaging Het
Lilr4b A G 10: 51,481,157 I30V possibly damaging Het
Limch1 A G 5: 66,953,673 N81S probably damaging Het
Mettl21e A T 1: 44,206,599 N162K possibly damaging Het
Ninl A G 2: 150,966,212 S299P possibly damaging Het
Obscn A G 11: 59,073,578 L3046P probably benign Het
Olfr1450 T A 19: 12,953,820 V77E probably damaging Het
Olfr342 C A 2: 36,527,680 S89R probably benign Het
Olfr780 A G 10: 129,322,047 I141M probably benign Het
Pnpla8 G A 12: 44,283,526 R287H probably benign Het
Prkaa1 A G 15: 5,176,650 D329G probably damaging Het
Ptprr T G 10: 116,188,330 V182G probably damaging Het
Rrp1b T A 17: 32,057,263 probably benign Het
Sec24a A G 11: 51,708,967 V837A probably benign Het
Slc17a6 A G 7: 51,669,092 Y494C probably damaging Het
Slc38a10 A T 11: 120,128,475 I360N probably damaging Het
Snrpb2 T C 2: 143,071,457 F194L possibly damaging Het
Tcam1 A G 11: 106,285,386 I313V probably benign Het
Trpv1 A G 11: 73,253,056 N238S probably benign Het
Usp20 T C 2: 31,011,717 V498A probably benign Het
Vmn2r23 T C 6: 123,729,626 S472P probably damaging Het
Vmn2r98 A T 17: 19,069,845 T548S possibly damaging Het
Zfp429 A T 13: 67,396,040 probably benign 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
IGL02755:Pot1a APN 6 25771613 missense possibly damaging 0.81
IGL03127:Pot1a APN 6 25794616 missense probably benign 0.00
BB001:Pot1a UTSW 6 25753310 missense possibly damaging 0.94
BB011:Pot1a UTSW 6 25753310 missense possibly damaging 0.94
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
R7251:Pot1a UTSW 6 25752498 splice site probably null
R7457:Pot1a UTSW 6 25771622 missense probably benign 0.26
R7679:Pot1a UTSW 6 25771634 missense probably benign 0.16
R7717:Pot1a UTSW 6 25758823 missense probably benign 0.45
R7924:Pot1a UTSW 6 25753310 missense possibly damaging 0.94
R8078:Pot1a UTSW 6 25750108 missense probably benign 0.13
R8084:Pot1a UTSW 6 25771536 missense possibly damaging 0.81
R8170:Pot1a UTSW 6 25758803 makesense probably null
R9070:Pot1a UTSW 6 25744630 missense
Posted On 2016-08-02