Mutagenetix > Incidental Mutation

Incidental Mutation 'BB011:Pot1a'

642629

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 #

BB011

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

25743939-25809280 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 25753309 bp (GRCm39)

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: 98.8%

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
Acacb	A	G	5: 114,383,281 (GRCm39)	K2155E	possibly damaging	Het
Adgre5	G	A	8: 84,456,029 (GRCm39)	P256S	possibly damaging	Het
Adipor1	T	A	1: 134,353,731 (GRCm39)	V172D	probably damaging	Het
Ahsa1	T	C	12: 87,317,230 (GRCm39)		probably null	Het
Ankrd11	T	C	8: 123,622,641 (GRCm39)	I404V	possibly damaging	Het
Asxl3	G	A	18: 22,658,602 (GRCm39)	R2204Q	probably damaging	Het
Barhl2	A	G	5: 106,605,515 (GRCm39)	S65P	unknown	Het
Bbx	A	T	16: 50,044,671 (GRCm39)	L630H	probably damaging	Het
Cars1	T	C	7: 143,123,608 (GRCm39)	T531A	possibly damaging	Het
Catsperb	T	A	12: 101,486,824 (GRCm39)	H450Q	probably benign	Het
Cdt1	T	C	8: 123,296,091 (GRCm39)	L135P	probably damaging	Het
Cfap206	T	A	4: 34,728,833 (GRCm39)	H24L	probably benign	Het
Cilk1	T	C	9: 78,062,746 (GRCm39)	L260P	probably damaging	Het
Cnga4	T	A	7: 105,057,028 (GRCm39)	V480E	probably benign	Het
Cnot1	ACG	A	8: 96,472,275 (GRCm39)		probably null	Het
Ctcfl	G	A	2: 172,955,449 (GRCm39)	T271I	possibly damaging	Het
Dlc1	T	C	8: 37,038,570 (GRCm39)	R1003G	probably benign	Het
Dnah7b	A	G	1: 46,258,590 (GRCm39)	D1927G	probably benign	Het
Dscc1	A	T	15: 54,945,572 (GRCm39)	D374E	probably benign	Het
Eci2	G	A	13: 35,177,053 (GRCm39)	Q69*	probably null	Het
Ep300	C	A	15: 81,533,703 (GRCm39)	P1920Q	unknown	Het
Epha5	A	G	5: 84,232,705 (GRCm39)	Y629H	possibly damaging	Het
Fat2	G	A	11: 55,153,613 (GRCm39)	T3533I	probably benign	Het
Fat3	T	C	9: 15,910,593 (GRCm39)	N1803S	probably damaging	Het
Fcrl2	T	C	3: 87,166,840 (GRCm39)	Y51C	probably damaging	Het
G530012D18Rik	C	G	1: 85,504,935 (GRCm39)	D113E	unknown	Het
Gcnt2	A	T	13: 41,072,040 (GRCm39)	K228*	probably null	Het
Gucy2c	A	T	6: 136,740,053 (GRCm39)	V258E	probably benign	Het
Hecw1	C	A	13: 14,497,113 (GRCm39)	L298F	probably damaging	Het
Hydin	T	G	8: 111,145,103 (GRCm39)	V818G	possibly damaging	Het
Hykk	A	G	9: 54,829,524 (GRCm39)	Y131C	probably damaging	Het
Mpo	A	G	11: 87,685,666 (GRCm39)	D48G	probably damaging	Het
Mrps10	T	C	17: 47,689,208 (GRCm39)	*202Q	probably null	Het
Mrps14	T	C	1: 160,024,559 (GRCm39)	V30A	probably benign	Het
Mtmr7	G	A	8: 41,059,927 (GRCm39)	A62V	possibly damaging	Het
Muc2	G	T	7: 141,281,631 (GRCm39)	G497W	probably damaging	Het
Nnt	A	T	13: 119,523,181 (GRCm39)	V237D	probably damaging	Het
Nox4	G	T	7: 87,023,589 (GRCm39)	V492L	probably benign	Het
Obscn	C	G	11: 59,003,381 (GRCm39)	E1306Q	probably benign	Het
Or5ak23	T	C	2: 85,244,563 (GRCm39)	Y220C	probably benign	Het
Or6aa1	A	G	7: 86,043,938 (GRCm39)	I256T	probably damaging	Het
Pard3	A	G	8: 128,137,231 (GRCm39)	N861S	probably benign	Het
Pdlim4	G	A	11: 53,946,048 (GRCm39)	R230*	probably null	Het
Pinlyp	C	T	7: 24,241,550 (GRCm39)	V159M	possibly damaging	Het
Plcb1	A	T	2: 135,201,613 (GRCm39)	T855S	probably benign	Het
Prom1	T	C	5: 44,187,111 (GRCm39)	D382G	probably benign	Het
Prss16	A	T	13: 22,192,834 (GRCm39)	N83K	probably damaging	Het
Ptprn2	A	G	12: 116,804,884 (GRCm39)	D133G	probably benign	Het
Rasef	C	T	4: 73,659,166 (GRCm39)		probably null	Het
Rbak	A	G	5: 143,160,241 (GRCm39)	S271P	probably damaging	Het
Rbm20	A	T	19: 53,666,016 (GRCm39)	I60F	possibly damaging	Het
Rftn1	G	T	17: 50,354,408 (GRCm39)	A318D	probably damaging	Het
Rsf1	G	GACGGCCGCC	7: 97,229,116 (GRCm39)		probably benign	Het
Serpinb3c	A	G	1: 107,200,904 (GRCm39)	L171P	probably damaging	Het
Slc25a19	T	C	11: 115,506,376 (GRCm39)	Y211C	unknown	Het
Sorbs2	C	T	8: 46,248,507 (GRCm39)	S586L	probably damaging	Het
Spesp1	A	T	9: 62,180,733 (GRCm39)	S58R	probably benign	Het
Spryd3	A	G	15: 102,026,762 (GRCm39)	I329T	probably benign	Het
St8sia2	G	A	7: 73,616,700 (GRCm39)	L113F	probably damaging	Het
Star	T	C	8: 26,299,883 (GRCm39)	I75T	possibly damaging	Het
Tasor2	A	T	13: 3,644,331 (GRCm39)	F129Y	possibly damaging	Het
Tdrd6	T	A	17: 43,938,697 (GRCm39)	I784F	possibly damaging	Het
Tex55	G	A	16: 38,632,826 (GRCm39)	Q369*	probably null	Het
Tsc22d4	A	G	5: 137,766,273 (GRCm39)	I144V	unknown	Het
Tspan8	T	C	10: 115,669,229 (GRCm39)		probably null	Het
Ttll9	C	T	2: 152,804,407 (GRCm39)		probably benign	Het
Ubr4	T	G	4: 139,194,587 (GRCm39)	L1160R	unknown	Het
Ufd1	A	G	16: 18,642,035 (GRCm39)	Y162C	possibly damaging	Het
Unc13c	A	T	9: 73,641,690 (GRCm39)	F1268I	probably benign	Het
Uvssa	T	C	5: 33,568,295 (GRCm39)	I561T	probably damaging	Het
Vmn2r15	A	T	5: 109,434,254 (GRCm39)	S817T	probably damaging	Het
Ybx1	T	C	4: 119,139,476 (GRCm39)	E173G	probably damaging	Het
Zc3h6	T	C	2: 128,857,400 (GRCm39)	S640P	possibly damaging	Het

Other mutations in Pot1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
IGL03396:Pot1a	APN	6	25,745,913 (GRCm39)	missense	possibly damaging	0.93
BB001: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

Predicted Primers

PCR Primer
(F):5'- ACCAAATAACAAGTCTCTTACCTTCT -3'
(R):5'- CCCCGTTATGACACAGATTTATCTT -3'

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

Posted On

2020-08-01