Incidental Mutation 'IGL01393:Pot1a'
ID79291
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 #IGL01393
Quality Score
Status
Chromosome6
Chromosomal Location25743737-25809246 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to A at 25744631 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Stop codon at position 625 (R625*)
Ref Sequence ENSEMBL: ENSMUSP00000131928 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115330] [ENSMUST00000166445]
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 null
Transcript: ENSMUST00000115330
AA Change: R625*
SMART Domains Protein: ENSMUSP00000110986
Gene: ENSMUSG00000029676
AA Change: R625*

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 null
Transcript: ENSMUST00000166445
AA Change: R625*
SMART Domains Protein: ENSMUSP00000131928
Gene: ENSMUSG00000029676
AA Change: R625*

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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930474N05Rik G A 14: 36,096,422 V126I possibly damaging Het
A630073D07Rik G T 6: 132,626,614 Q60K unknown Het
Alpk2 A G 18: 65,307,708 S205P possibly damaging Het
Ang4 T A 14: 51,764,213 I93L probably benign Het
Arpin A G 7: 79,931,840 V44A possibly damaging Het
Atxn3 A T 12: 101,933,047 C263* probably null Het
C530008M17Rik T C 5: 76,858,971 S1060P unknown Het
Cd209f T C 8: 4,103,154 N260S probably damaging Het
Cdh20 A G 1: 104,934,244 R50G probably benign Het
Csmd3 C T 15: 48,457,599 V272I possibly damaging Het
Dst A T 1: 34,167,625 Y1136F possibly damaging Het
Fam20c A G 5: 138,807,271 Y420C probably damaging Het
Fancd2 T A 6: 113,577,360 probably benign Het
Fat2 T C 11: 55,269,309 D3326G probably benign Het
Filip1l A G 16: 57,572,223 N820S probably damaging Het
Gm26566 G A 4: 88,722,344 probably benign Het
Gm4792 A G 10: 94,298,442 L22P unknown Het
Gpat2 A G 2: 127,432,651 E386G probably damaging Het
Grm3 T C 5: 9,589,856 D63G probably benign Het
Hdc A G 2: 126,594,661 V430A probably benign Het
Hnf4a T C 2: 163,551,572 probably benign Het
Il2ra A G 2: 11,683,054 D215G probably damaging Het
Kctd3 T C 1: 189,000,290 I74V probably benign Het
Kctd5 A T 17: 24,059,318 probably null Het
Lrsam1 A T 2: 32,955,173 probably benign Het
Mblac1 A G 5: 138,194,774 N126S possibly damaging Het
Mmrn1 T A 6: 60,960,708 probably benign Het
Mpp3 A T 11: 102,025,478 L16Q probably damaging Het
Mrgprb1 C A 7: 48,448,006 A53S possibly damaging Het
Nbea C A 3: 56,005,308 M1019I probably benign Het
Nlrp5 A G 7: 23,404,174 K22R probably null Het
Olfr1298 A G 2: 111,645,256 V247A probably damaging Het
Olfr350 G A 2: 36,850,541 R165Q probably benign Het
Olfr700 C T 7: 106,806,435 G9E probably benign Het
Pard6b T A 2: 168,087,378 S35T probably benign Het
Peli1 T C 11: 21,147,400 V215A probably benign Het
Pkp4 A T 2: 59,347,925 D1003V probably damaging Het
Ppp1r16a T C 15: 76,694,544 S483P probably benign Het
Prpf8 C A 11: 75,494,295 A794D possibly damaging Het
Prrg3 T C X: 71,967,517 V210A probably benign Het
Rev1 A G 1: 38,092,063 V168A probably damaging Het
Sez6l G T 5: 112,438,395 probably benign Het
Spag17 A G 3: 100,027,610 T711A possibly damaging Het
Spice1 A G 16: 44,366,630 I163M probably benign Het
Tex13c1 C T X: 43,591,356 A66V probably damaging Het
Tmem132d A T 5: 127,784,638 S806R probably benign Het
Tnc A G 4: 64,014,054 probably benign Het
Tpbg T A 9: 85,844,092 V38E unknown Het
Unc13c T A 9: 73,540,270 I1883F probably benign Het
Vmn2r61 A C 7: 42,266,834 Q290H probably benign Het
Vps39 A G 2: 120,350,238 probably benign Het
Zfp369 T C 13: 65,294,474 V294A possibly damaging Het
Zfp821 T A 8: 109,709,478 probably benign Het
Zfp941 C T 7: 140,811,928 G506E probably damaging Het
Other mutations in Pot1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00857:Pot1a APN 6 25744628 missense probably benign 0.01
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
IGL03396:Pot1a APN 6 25745914 missense possibly damaging 0.93
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
Posted On2013-11-05