Mutagenetix > Incidental Mutation

Incidental Mutation 'R5870:Pot1a'

455117

Institutional Source

Beutler Lab

Gene Symbol

Pot1a

Ensembl Gene

ENSMUSG00000029676

Gene Name

protection of telomeres 1A

Synonyms

1500031H18Rik, Pot1

MMRRC Submission

044078-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5870 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

25743939-25809280 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 25778950 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 48 (T48I)

Ref Sequence

ENSEMBL: ENSMUSP00000131928 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000115327] [ENSMUST00000115330] [ENSMUST00000166445]

AlphaFold

Q91WC1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000115327
AA Change: T48I

PolyPhen 2 Score 0.869 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000110982
Gene: ENSMUSG00000029676
AA Change: T48I

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000115329

SMART Domains

Protein: ENSMUSP00000110984
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: T48I

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000110986
Gene: ENSMUSG00000029676
AA Change: T48I

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156985

Predicted Effect

possibly damaging
Transcript: ENSMUST00000166445
AA Change: T48I

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000131928
Gene: ENSMUSG00000029676
AA Change: T48I

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

Meta Mutation Damage Score

0.1033

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.2%
20x: 91.1%

Validation Efficiency

93% (84/90)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy9	A	G	16: 4,236,232 (GRCm39)	V156A	probably damaging	Het
Ak6	C	A	13: 100,791,932 (GRCm39)	P125Q	probably damaging	Het
Aqp4	A	C	18: 15,532,946 (GRCm39)	V49G	probably damaging	Het
Arfgef1	A	G	1: 10,251,163 (GRCm39)	I874T	probably damaging	Het
Arid1a	T	C	4: 133,408,387 (GRCm39)	D2040G	unknown	Het
Atp1a3	T	G	7: 24,697,003 (GRCm39)	D220A	probably benign	Het
C2cd4c	A	T	10: 79,448,043 (GRCm39)	I368N	possibly damaging	Het
Ccnt1	G	A	15: 98,441,394 (GRCm39)	Q625*	probably null	Het
Cd177	T	A	7: 24,455,757 (GRCm39)	H255L	probably benign	Het
Cdipt	G	A	7: 126,578,094 (GRCm39)	V114M	probably benign	Het
Coro1b	T	A	19: 4,199,384 (GRCm39)	H14Q	probably damaging	Het
Ctdp1	T	A	18: 80,451,901 (GRCm39)	D158V	unknown	Het
Cts7	A	T	13: 61,503,545 (GRCm39)	S140T	probably damaging	Het
Dlgap3	T	A	4: 127,089,502 (GRCm39)	L366*	probably null	Het
Dnah9	C	T	11: 65,976,036 (GRCm39)	A1338T	probably benign	Het
Dock7	T	C	4: 98,952,199 (GRCm39)	I424V	probably benign	Het
Dock8	G	T	19: 25,109,490 (GRCm39)	A891S	probably benign	Het
Dync2i1	A	G	12: 116,219,865 (GRCm39)	S26P	possibly damaging	Het
Elmod3	A	G	6: 72,571,721 (GRCm39)		probably null	Het
Eps15	G	A	4: 109,218,507 (GRCm39)	E107K	probably damaging	Het
Esco1	A	T	18: 10,593,744 (GRCm39)		probably null	Het
Fuz	A	G	7: 44,549,742 (GRCm39)	T407A	probably damaging	Het
Galr1	A	T	18: 82,424,197 (GRCm39)	F27I	probably benign	Het
Glt1d1	A	G	5: 127,754,344 (GRCm39)	Y182C	probably damaging	Het
Gm37240	A	T	3: 84,597,828 (GRCm39)		probably benign	Het
Gm37610	A	G	6: 41,061,848 (GRCm39)		noncoding transcript	Het
Gm6658	G	T	8: 91,635,020 (GRCm39)		probably benign	Het
Gm9376	A	G	14: 118,504,789 (GRCm39)	T74A	possibly damaging	Het
Hadha	G	A	5: 30,349,284 (GRCm39)	S109F	possibly damaging	Het
Herc3	A	T	6: 58,893,435 (GRCm39)	Q899L	probably benign	Het
Ift172	C	T	5: 31,434,284 (GRCm39)	E485K	probably benign	Het
Lrrc8e	A	G	8: 4,285,725 (GRCm39)	K650R	possibly damaging	Het
Ly6d	A	T	15: 74,635,381 (GRCm39)	V10D	possibly damaging	Het
Med27	A	G	2: 29,279,823 (GRCm39)		probably null	Het
Med29	A	T	7: 28,091,922 (GRCm39)	V56E	probably damaging	Het
Mobp	A	G	9: 119,996,919 (GRCm39)	K17E	probably damaging	Het
Mrpl37	G	A	4: 106,923,919 (GRCm39)	T25I	probably benign	Het
Myh1	A	G	11: 67,092,805 (GRCm39)	D33G	possibly damaging	Het
Nrg3	T	A	14: 39,194,586 (GRCm39)	I58F	possibly damaging	Het
Or52e2	A	G	7: 102,804,948 (GRCm39)	I2T	probably benign	Het
Or7e176	A	G	9: 20,171,874 (GRCm39)	D246G	probably benign	Het
Padi1	T	A	4: 140,553,892 (GRCm39)	D359V	probably benign	Het
Pcdh7	T	C	5: 57,877,753 (GRCm39)	V436A	possibly damaging	Het
Pgm3	C	A	9: 86,452,414 (GRCm39)	K15N	probably damaging	Het
Phip	A	T	9: 82,790,730 (GRCm39)		probably benign	Het
Ppic	T	C	18: 53,542,333 (GRCm39)	K125R	probably benign	Het
Ppm1j	T	C	3: 104,692,811 (GRCm39)	V440A	possibly damaging	Het
Prg4	T	A	1: 150,331,300 (GRCm39)	K458*	probably null	Het
Rd3	A	T	1: 191,717,261 (GRCm39)	M244L	probably benign	Het
Rflnb	A	G	11: 75,912,864 (GRCm39)	Y175H	probably benign	Het
Rnf157	T	A	11: 116,237,900 (GRCm39)	S574C	probably benign	Het
Sardh	A	G	2: 27,110,653 (GRCm39)		probably null	Het
Senp3	C	T	11: 69,569,048 (GRCm39)		probably null	Het
Siglec1	G	A	2: 130,914,767 (GRCm39)	R1450C	probably damaging	Het
Sim2	A	G	16: 93,924,193 (GRCm39)	H446R	probably damaging	Het
Spon1	T	C	7: 113,631,021 (GRCm39)	I444T	probably damaging	Het
Srebf1	T	A	11: 60,094,410 (GRCm39)	Q568H	possibly damaging	Het
Stxbp4	A	T	11: 90,428,782 (GRCm39)	I441N	possibly damaging	Het
Sugt1	G	A	14: 79,846,451 (GRCm39)	V163I	probably benign	Het
Surf1	G	T	2: 26,806,271 (GRCm39)		probably benign	Het
Synj2	A	G	17: 6,088,128 (GRCm39)	E1348G	probably benign	Het
Tc2n	A	T	12: 101,619,111 (GRCm39)	V349D	probably damaging	Het
Ten1	A	G	11: 116,105,751 (GRCm39)	R112G	possibly damaging	Het
Tm9sf4	A	G	2: 153,036,201 (GRCm39)	D321G	probably damaging	Het
Ttll12	A	T	15: 83,461,237 (GRCm39)	M594K	probably damaging	Het
Ttn	T	A	2: 76,703,058 (GRCm39)		probably benign	Het
Usp28	C	T	9: 48,937,285 (GRCm39)	Q185*	probably null	Het
Vmn2r112	A	G	17: 22,838,004 (GRCm39)	I822V	probably benign	Het
Zc3hc1	A	T	6: 30,382,682 (GRCm39)	L88*	probably null	Het
Zfr	T	A	15: 12,160,701 (GRCm39)	V758D	probably damaging	Het
Zfyve27	T	G	19: 42,160,110 (GRCm39)	L42R	probably benign	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
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
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'- TGAACAATGCAGCCTTCTTGTC -3'
(R):5'- AGCCTTGCTCATGTTAGGC -3'

Sequencing Primer
(F):5'- CTTGTCTAAGAATGTAGGTTGCAG -3'
(R):5'- GGCAAACATTTTTATTCCAATAGCCC -3'

Posted On

2017-02-10