Mutagenetix > Incidental Mutations

Incidental Mutation 'R6180:Pot1a'

487987

Institutional Source

Beutler Lab

Gene Symbol

Pot1a

Ensembl Gene

ENSMUSG00000029676

Gene Name

protection of telomeres 1A

Synonyms

1500031H18Rik, Pot1

MMRRC Submission

044322-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R6180 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

25743737-25809246 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 25771621 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 200 (D200E)

Ref Sequence

ENSEMBL: ENSMUSP00000131928 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000115327
AA Change: D200E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000110982
Gene: ENSMUSG00000029676
AA Change: D200E

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

probably benign
Transcript: ENSMUST00000115330
AA Change: D200E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000110986
Gene: ENSMUSG00000029676
AA Change: D200E

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

probably benign
Transcript: ENSMUST00000166445
AA Change: D200E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000131928
Gene: ENSMUSG00000029676
AA Change: D200E

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: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.5%

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	A	G	11: 78,273,258	M1142V	possibly damaging	Het
Adam39	A	G	8: 40,826,573	N667S	probably benign	Het
Ap4e1	T	A	2: 127,066,588	C1085*	probably null	Het
BC035044	A	T	6: 128,885,034		probably benign	Het
Capn11	T	C	17: 45,630,766	D693G	probably damaging	Het
Cavin4	A	T	4: 48,663,917	H99L	possibly damaging	Het
Ccdc86	T	C	19: 10,948,581	K218R	possibly damaging	Het
Ccno	T	C	13: 112,989,845	S283P	probably damaging	Het
Ccser2	A	T	14: 36,940,319	S303T	probably benign	Het
Cd53	T	A	3: 106,767,364	N129I	probably damaging	Het
Cd63	G	A	10: 128,912,064		probably null	Het
Cyp2j6	G	C	4: 96,536,086	L145V	probably damaging	Het
Daam2	A	G	17: 49,469,666	M797T	probably damaging	Het
Dmgdh	G	A	13: 93,752,286	V811I	possibly damaging	Het
Dpysl4	A	T	7: 139,090,334	T123S	probably damaging	Het
Erap1	A	G	13: 74,666,226	E428G	possibly damaging	Het
Fam124b	T	A	1: 80,200,185	T366S	possibly damaging	Het
Fbxw22	T	C	9: 109,386,679	D167G	probably damaging	Het
Flrt2	C	T	12: 95,779,238	Q117*	probably null	Het
Ftsj3	A	T	11: 106,253,340		probably null	Het
Ggn	A	G	7: 29,173,049	Y618C	probably damaging	Het
Glis1	T	A	4: 107,627,513	S402T	probably benign	Het
Gm13762	T	G	2: 88,973,882	N3T	probably damaging	Het
Gm4781	T	A	10: 100,396,487		noncoding transcript	Het
Gm7168	T	A	17: 13,948,596	I75K	probably damaging	Het
Gm7298	C	T	6: 121,760,823	H348Y	probably benign	Het
Gria1	G	T	11: 57,242,792	R499L	probably damaging	Het
Gtf2ird2	C	T	5: 134,216,547	T549M	probably damaging	Het
H2-M10.6	T	A	17: 36,814,286	V323E	probably damaging	Het
Hoxb3	G	A	11: 96,346,103	V336I	probably benign	Het
Il12b	G	A	11: 44,412,626	A327T	probably benign	Het
Inpp4a	C	A	1: 37,380,102	P588T	probably benign	Het
Kctd12	C	A	14: 102,981,591	D284Y	probably damaging	Het
Kif28	C	A	1: 179,697,772		probably null	Het
Krt2	T	C	15: 101,815,044	N332S	probably benign	Het
Lama2	G	A	10: 26,981,499	T3118I	probably benign	Het
Lgi1	T	C	19: 38,264,956	L25P	probably damaging	Het
Lhx3	T	A	2: 26,201,491	M269L	probably benign	Het
Lmtk2	A	T	5: 144,175,342	E960V	probably damaging	Het
Loxl4	A	T	19: 42,608,352	D60E	probably damaging	Het
Lrp2	T	A	2: 69,503,524	N1458Y	possibly damaging	Het
Ltn1	A	T	16: 87,427,789	S16T	probably damaging	Het
Mllt6	G	A	11: 97,678,536	A875T	possibly damaging	Het
Mpp5	C	T	12: 78,817,310	H216Y	probably benign	Het
Mrgprb4	A	T	7: 48,198,826	I118N	probably damaging	Het
Mrps7	A	G	11: 115,604,881	T82A	possibly damaging	Het
Mug2	A	G	6: 122,079,606	E1170G	probably benign	Het
Nav2	A	G	7: 49,458,167	H647R	probably benign	Het
Nbeal2	T	C	9: 110,625,147	Y2710C	probably damaging	Het
Ndc1	A	T	4: 107,411,198	I644L	possibly damaging	Het
Olfr952	A	T	9: 39,426,712	Y120N	probably damaging	Het
Padi4	A	G	4: 140,756,473	M352T	possibly damaging	Het
Pcdhgc3	C	A	18: 37,806,937	D130E	probably damaging	Het
Pde6a	A	T	18: 61,284,092		probably null	Het
Pdpn	C	T	4: 143,299,222	G12R	probably damaging	Het
Ppa1	A	T	10: 61,667,652	D236V	probably benign	Het
Ptprn2	T	A	12: 116,859,119	S273T	probably benign	Het
Rasgrf2	T	C	13: 92,029,101	E297G	probably damaging	Het
Rgl1	T	C	1: 152,519,172	N750S	probably damaging	Het
Rinl	A	G	7: 28,796,940	N449D	probably benign	Het
Samd8	T	A	14: 21,775,025	H79Q	probably benign	Het
Scn11a	T	C	9: 119,754,867	I1561V	probably benign	Het
Slc39a12	T	C	2: 14,396,127	L105P	probably benign	Het
Slc7a12	A	T	3: 14,481,140		probably null	Het
Slco1a4	A	G	6: 141,817,820	I390T	possibly damaging	Het
Snta1	T	C	2: 154,377,182	N411S	probably benign	Het
Srgap2	T	C	1: 131,349,541	T323A	probably benign	Het
Ssh2	G	T	11: 77,453,465	V759L	probably benign	Het
St5	A	C	7: 109,556,888	D218E	probably benign	Het
Swap70	G	T	7: 110,269,981	R327L	probably damaging	Het
Tbc1d4	C	A	14: 101,458,770	C914F	probably benign	Het
Tbx3	A	G	5: 119,674,067	D144G	probably damaging	Het
Tgfbr2	T	C	9: 116,110,144	K205R	possibly damaging	Het
Tmem94	A	T	11: 115,791,031		probably null	Het
Usf3	T	A	16: 44,221,105	F1983I	probably damaging	Het
Ush2a	T	A	1: 188,399,871	C763*	probably null	Het
Vmn1r115	A	C	7: 20,844,715	L91V	probably damaging	Het
Vmn1r201	A	T	13: 22,475,329	I238F	possibly damaging	Het
Vmn1r28	T	A	6: 58,265,491	S106R	probably damaging	Het
Vmn1r82	T	C	7: 12,305,085	V95A	probably damaging	Het
Vrk3	A	T	7: 44,769,611	N371I	possibly damaging	Het
Wnt8b	C	A	19: 44,511,643	A223E	probably benign	Het
Xirp2	T	C	2: 67,505,577		probably null	Het
Xpo7	T	C	14: 70,682,803	N642S	probably benign	Het
Ythdc1	G	A	5: 86,828,094	R520H	possibly damaging	Het
Zfp367	T	C	13: 64,135,390	E316G	probably damaging	Het
Zfp488	T	A	14: 33,970,794	R137S	possibly damaging	Het
Zfp532	G	T	18: 65,656,471	V994L	probably benign	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
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
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

Predicted Primers

PCR Primer
(F):5'- GGCCATGTAATTTTAAAGGCAGC -3'
(R):5'- AGATGGCTATACACGGTTTTAAGG -3'

Sequencing Primer
(F):5'- TAATTTTAAAGGCAGCAAGGAATAGG -3'
(R):5'- CACGGTTTTAAGGTACTGGATACTC -3'

Posted On

2017-10-10