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
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03396
Quality Score
Status
Chromosome 6
Chromosomal Location 25743939-25809280 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 25745913 bp (GRCm39)
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: 69,902,239 (GRCm39) R457* probably null Het
Arl5b C A 2: 15,079,915 (GRCm39) T153K probably damaging Het
Arsb A T 13: 94,075,825 (GRCm39) Y436F probably benign Het
Azgp1 C T 5: 137,983,445 (GRCm39) P40L possibly damaging Het
B020004C17Rik A G 14: 57,253,993 (GRCm39) T39A possibly damaging Het
Cacna2d3 G A 14: 29,442,834 (GRCm39) Q67* probably null Het
Cdcp2 C A 4: 106,964,369 (GRCm39) Y406* probably null Het
Cep89 T A 7: 35,128,603 (GRCm39) D585E probably benign Het
Cfap65 A G 1: 74,943,801 (GRCm39) F1570S probably damaging Het
Cnfn A G 7: 25,067,783 (GRCm39) probably benign Het
Fgd6 G A 10: 93,880,318 (GRCm39) V391I probably benign Het
Fra10ac1 C T 19: 38,189,994 (GRCm39) probably null Het
Gjd3 T C 11: 102,691,353 (GRCm39) K217E probably benign Het
Il20rb T C 9: 100,341,251 (GRCm39) E285G probably damaging Het
Ints2 T C 11: 86,103,888 (GRCm39) T1086A probably damaging Het
Itih4 A T 14: 30,609,906 (GRCm39) I79F probably damaging Het
Jmjd6 A T 11: 116,732,077 (GRCm39) L208H probably damaging Het
Lilrb4b A G 10: 51,357,253 (GRCm39) I30V possibly damaging Het
Limch1 A G 5: 67,111,016 (GRCm39) N81S probably damaging Het
Mettl21e A T 1: 44,245,759 (GRCm39) N162K possibly damaging Het
Ninl A G 2: 150,808,132 (GRCm39) S299P possibly damaging Het
Obscn A G 11: 58,964,404 (GRCm39) L3046P probably benign Het
Or1j14 C A 2: 36,417,692 (GRCm39) S89R probably benign Het
Or5b98 T A 19: 12,931,184 (GRCm39) V77E probably damaging Het
Or6c68 A G 10: 129,157,916 (GRCm39) I141M probably benign Het
Pnpla8 G A 12: 44,330,309 (GRCm39) R287H probably benign Het
Prkaa1 A G 15: 5,206,131 (GRCm39) D329G probably damaging Het
Ptprr T G 10: 116,024,235 (GRCm39) V182G probably damaging Het
Rrp1b T A 17: 32,276,237 (GRCm39) probably benign Het
Sec24a A G 11: 51,599,794 (GRCm39) V837A probably benign Het
Slc17a6 A G 7: 51,318,840 (GRCm39) Y494C probably damaging Het
Slc38a10 A T 11: 120,019,301 (GRCm39) I360N probably damaging Het
Snrpb2 T C 2: 142,913,377 (GRCm39) F194L possibly damaging Het
Tcam1 A G 11: 106,176,212 (GRCm39) I313V probably benign Het
Trpv1 A G 11: 73,143,882 (GRCm39) N238S probably benign Het
Usp20 T C 2: 30,901,729 (GRCm39) V498A probably benign Het
Vmn2r23 T C 6: 123,706,585 (GRCm39) S472P probably damaging Het
Vmn2r98 A T 17: 19,290,107 (GRCm39) T548S possibly damaging Het
Zfp429 A T 13: 67,544,159 (GRCm39) 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
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
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
Posted On 2016-08-02