Mutagenetix > Incidental Mutation

Incidental Mutation 'BB001:Pot1a'

642089

Institutional Source

Beutler Lab

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 #

BB001

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

25743737-25809246 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 25753310 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 409 (D409V)

Ref Sequence

ENSEMBL: ENSMUSP00000110986 (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

Domain	Start	End	E-Value	Type
Telo_bind	11	141	3.6e-53	SMART
low complexity region	253	260	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000115330
AA Change: D409V

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000110986
Gene: ENSMUSG00000029676
AA Change: D409V

Domain	Start	End	E-Value	Type
Telo_bind	11	141	3.6e-53	SMART
Pfam:POT1PC	152	299	6.7e-41	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000166445
AA Change: D409V

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000131928
Gene: ENSMUSG00000029676
AA Change: D409V

Domain	Start	End	E-Value	Type
Telo_bind	11	141	3.6e-53	SMART
low complexity region	253	260	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930435E12Rik	G	A	16: 38,812,464	Q369*	probably null	Het
Acacb	A	G	5: 114,245,220	K2155E	possibly damaging	Het
Adgre5	G	A	8: 83,729,400	P256S	possibly damaging	Het
Adipor1	T	A	1: 134,425,993	V172D	probably damaging	Het
Ahsa1	T	C	12: 87,270,456		probably null	Het
Ankrd11	T	C	8: 122,895,902	I404V	possibly damaging	Het
Asxl3	G	A	18: 22,525,545	R2204Q	probably damaging	Het
Barhl2	A	G	5: 106,457,649	S65P	unknown	Het
Bbx	A	T	16: 50,224,308	L630H	probably damaging	Het
Cars	T	C	7: 143,569,871	T531A	possibly damaging	Het
Catsperb	T	A	12: 101,520,565	H450Q	probably benign	Het
Cdt1	T	C	8: 122,569,352	L135P	probably damaging	Het
Cfap206	T	A	4: 34,728,833	H24L	probably benign	Het
Cnga4	T	A	7: 105,407,821	V480E	probably benign	Het
Cnot1	ACG	A	8: 95,745,647		probably null	Het
Ctcfl	G	A	2: 173,113,656	T271I	possibly damaging	Het
Dlc1	T	C	8: 36,571,416	R1003G	probably benign	Het
Dnah7b	A	G	1: 46,219,430	D1927G	probably benign	Het
Dscc1	A	T	15: 55,082,176	D374E	probably benign	Het
Eci2	G	A	13: 34,993,070	Q69*	probably null	Het
Ep300	C	A	15: 81,649,502	P1920Q	unknown	Het
Epha5	A	G	5: 84,084,846	Y629H	possibly damaging	Het
Fam208b	A	T	13: 3,594,331	F129Y	possibly damaging	Het
Fat2	G	A	11: 55,262,787	T3533I	probably benign	Het
Fat3	T	C	9: 15,999,297	N1803S	probably damaging	Het
Fcrls	T	C	3: 87,259,533	Y51C	probably damaging	Het
G530012D18Rik	C	G	1: 85,577,214	D113E	unknown	Het
Gcnt2	A	T	13: 40,918,564	K228*	probably null	Het
Gucy2c	A	T	6: 136,763,055	V258E	probably benign	Het
Hecw1	C	A	13: 14,322,528	L298F	probably damaging	Het
Hydin	T	G	8: 110,418,471	V818G	possibly damaging	Het
Hykk	A	G	9: 54,922,240	Y131C	probably damaging	Het
Ick	T	C	9: 78,155,464	L260P	probably damaging	Het
Mpo	A	G	11: 87,794,840	D48G	probably damaging	Het
Mrps10	T	C	17: 47,378,283	*202Q	probably null	Het
Mrps14	T	C	1: 160,196,989	V30A	probably benign	Het
Mtmr7	G	A	8: 40,606,884	A62V	possibly damaging	Het
Muc2	G	T	7: 141,695,388	G497W	probably damaging	Het
Nnt	A	T	13: 119,386,645	V237D	probably damaging	Het
Nox4	G	T	7: 87,374,381	V492L	probably benign	Het
Obscn	C	G	11: 59,112,555	E1306Q	probably benign	Het
Olfr303	A	G	7: 86,394,730	I256T	probably damaging	Het
Olfr993	T	C	2: 85,414,219	Y220C	probably benign	Het
Pard3	A	G	8: 127,410,750	N861S	probably benign	Het
Pdlim4	G	A	11: 54,055,222	R230*	probably null	Het
Pinlyp	C	T	7: 24,542,125	V159M	possibly damaging	Het
Pla2g4d	T	C	2: 120,289,164		probably benign	Het
Plcb1	A	T	2: 135,359,693	T855S	probably benign	Het
Prom1	T	C	5: 44,029,769	D382G	probably benign	Het
Prss16	A	T	13: 22,008,664	N83K	probably damaging	Het
Ptprn2	A	G	12: 116,841,264	D133G	probably benign	Het
Rasef	C	T	4: 73,740,929		probably null	Het
Rbak	A	G	5: 143,174,486	S271P	probably damaging	Het
Rbm20	A	T	19: 53,677,585	I60F	possibly damaging	Het
Rftn1	G	T	17: 50,047,380	A318D	probably damaging	Het
Serpinb3c	A	G	1: 107,273,174	L171P	probably damaging	Het
Slc25a19	T	C	11: 115,615,550	Y211C	unknown	Het
Sorbs2	C	T	8: 45,795,470	S586L	probably damaging	Het
Spesp1	A	T	9: 62,273,451	S58R	probably benign	Het
Spryd3	A	G	15: 102,118,327	I329T	probably benign	Het
St8sia2	G	A	7: 73,966,952	L113F	probably damaging	Het
Star	T	C	8: 25,809,855	I75T	possibly damaging	Het
Tdrd6	T	A	17: 43,627,806	I784F	possibly damaging	Het
Tsc22d4	A	G	5: 137,768,011	I144V	unknown	Het
Tspan8	T	C	10: 115,833,324		probably null	Het
Ttll9	C	T	2: 152,962,487		probably benign	Het
Ubr4	T	G	4: 139,467,276	L1160R	unknown	Het
Ufd1	A	G	16: 18,823,285	Y162C	possibly damaging	Het
Unc13c	A	T	9: 73,734,408	F1268I	probably benign	Het
Uvssa	T	C	5: 33,410,951	I561T	probably damaging	Het
Vmn2r15	A	T	5: 109,286,388	S817T	probably damaging	Het
Ybx1	T	C	4: 119,282,279	E173G	probably damaging	Het
Zc3h6	T	C	2: 129,015,480	S640P	possibly damaging	Het

Other mutations in Pot1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
IGL03396:Pot1a	APN	6	25745914	missense	possibly damaging	0.93
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
R9525:Pot1a	UTSW	6	25745917	missense	probably benign	0.06
R9574:Pot1a	UTSW	6	25775719	missense	possibly damaging	0.73
R9638:Pot1a	UTSW	6	25750107	nonsense	probably null
R9698:Pot1a	UTSW	6	25744616	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ACCAAATAACAAGTCTCTTACCTTC -3'
(R):5'- GTTATGACACAGATTTATCTTGCCA -3'

Sequencing Primer
(F):5'- TCACTTGAAGCAGGGAGA -3'
(R):5'- ATATCATGTGTATGCCTGGCAC -3'

Posted On

2020-08-01