Mutagenetix > Incidental Mutation

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

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6180 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

25743939-25809280 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 25771620 bp (GRCm39)

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]

AlphaFold

Q91WC1

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
Adam39	A	G	8: 41,279,610 (GRCm39)	N667S	probably benign	Het
Ap4e1	T	A	2: 126,908,508 (GRCm39)	C1085*	probably null	Het
BC035044	A	T	6: 128,861,997 (GRCm39)		probably benign	Het
Bltp2	A	G	11: 78,164,084 (GRCm39)	M1142V	possibly damaging	Het
Capn11	T	C	17: 45,941,692 (GRCm39)	D693G	probably damaging	Het
Cavin4	A	T	4: 48,663,917 (GRCm39)	H99L	possibly damaging	Het
Ccdc86	T	C	19: 10,925,945 (GRCm39)	K218R	possibly damaging	Het
Ccno	T	C	13: 113,126,379 (GRCm39)	S283P	probably damaging	Het
Ccser2	A	T	14: 36,662,276 (GRCm39)	S303T	probably benign	Het
Cd53	T	A	3: 106,674,680 (GRCm39)	N129I	probably damaging	Het
Cd63	G	A	10: 128,747,933 (GRCm39)		probably null	Het
Cyp2j6	G	C	4: 96,424,323 (GRCm39)	L145V	probably damaging	Het
Daam2	A	G	17: 49,776,694 (GRCm39)	M797T	probably damaging	Het
Dennd2b	A	C	7: 109,156,095 (GRCm39)	D218E	probably benign	Het
Dmgdh	G	A	13: 93,888,794 (GRCm39)	V811I	possibly damaging	Het
Dpysl4	A	T	7: 138,670,250 (GRCm39)	T123S	probably damaging	Het
Erap1	A	G	13: 74,814,345 (GRCm39)	E428G	possibly damaging	Het
Fam124b	T	A	1: 80,177,902 (GRCm39)	T366S	possibly damaging	Het
Fbxw22	T	C	9: 109,215,747 (GRCm39)	D167G	probably damaging	Het
Flrt2	C	T	12: 95,746,012 (GRCm39)	Q117*	probably null	Het
Ftsj3	A	T	11: 106,144,166 (GRCm39)		probably null	Het
Ggn	A	G	7: 28,872,474 (GRCm39)	Y618C	probably damaging	Het
Glis1	T	A	4: 107,484,710 (GRCm39)	S402T	probably benign	Het
Gm4781	T	A	10: 100,232,349 (GRCm39)		noncoding transcript	Het
Gm7168	T	A	17: 14,168,858 (GRCm39)	I75K	probably damaging	Het
Gm7298	C	T	6: 121,737,782 (GRCm39)	H348Y	probably benign	Het
Gria1	G	T	11: 57,133,618 (GRCm39)	R499L	probably damaging	Het
Gtf2ird2	C	T	5: 134,245,389 (GRCm39)	T549M	probably damaging	Het
H2-M10.6	T	A	17: 37,125,178 (GRCm39)	V323E	probably damaging	Het
Hoxb3	G	A	11: 96,236,929 (GRCm39)	V336I	probably benign	Het
Il12b	G	A	11: 44,303,453 (GRCm39)	A327T	probably benign	Het
Inpp4a	C	A	1: 37,419,183 (GRCm39)	P588T	probably benign	Het
Kctd12	C	A	14: 103,219,027 (GRCm39)	D284Y	probably damaging	Het
Kif28	C	A	1: 179,525,337 (GRCm39)		probably null	Het
Krt1c	T	C	15: 101,723,479 (GRCm39)	N332S	probably benign	Het
Lama2	G	A	10: 26,857,495 (GRCm39)	T3118I	probably benign	Het
Lgi1	T	C	19: 38,253,404 (GRCm39)	L25P	probably damaging	Het
Lhx3	T	A	2: 26,091,503 (GRCm39)	M269L	probably benign	Het
Lmtk2	A	T	5: 144,112,160 (GRCm39)	E960V	probably damaging	Het
Loxl4	A	T	19: 42,596,791 (GRCm39)	D60E	probably damaging	Het
Lrp2	T	A	2: 69,333,868 (GRCm39)	N1458Y	possibly damaging	Het
Ltn1	A	T	16: 87,224,677 (GRCm39)	S16T	probably damaging	Het
Mllt6	G	A	11: 97,569,362 (GRCm39)	A875T	possibly damaging	Het
Mrgprb4	A	T	7: 47,848,574 (GRCm39)	I118N	probably damaging	Het
Mrps7	A	G	11: 115,495,707 (GRCm39)	T82A	possibly damaging	Het
Mug2	A	G	6: 122,056,565 (GRCm39)	E1170G	probably benign	Het
Nav2	A	G	7: 49,107,915 (GRCm39)	H647R	probably benign	Het
Nbeal2	T	C	9: 110,454,215 (GRCm39)	Y2710C	probably damaging	Het
Ndc1	A	T	4: 107,268,395 (GRCm39)	I644L	possibly damaging	Het
Or4c108	T	G	2: 88,804,226 (GRCm39)	N3T	probably damaging	Het
Or8g33	A	T	9: 39,338,008 (GRCm39)	Y120N	probably damaging	Het
Padi4	A	G	4: 140,483,784 (GRCm39)	M352T	possibly damaging	Het
Pals1	C	T	12: 78,864,084 (GRCm39)	H216Y	probably benign	Het
Pcdhgc3	C	A	18: 37,939,990 (GRCm39)	D130E	probably damaging	Het
Pde6a	A	T	18: 61,417,163 (GRCm39)		probably null	Het
Pdpn	C	T	4: 143,025,792 (GRCm39)	G12R	probably damaging	Het
Ppa1	A	T	10: 61,503,431 (GRCm39)	D236V	probably benign	Het
Ptprn2	T	A	12: 116,822,739 (GRCm39)	S273T	probably benign	Het
Rasgrf2	T	C	13: 92,165,609 (GRCm39)	E297G	probably damaging	Het
Rgl1	T	C	1: 152,394,923 (GRCm39)	N750S	probably damaging	Het
Rinl	A	G	7: 28,496,365 (GRCm39)	N449D	probably benign	Het
Samd8	T	A	14: 21,825,093 (GRCm39)	H79Q	probably benign	Het
Scn11a	T	C	9: 119,583,933 (GRCm39)	I1561V	probably benign	Het
Slc39a12	T	C	2: 14,400,938 (GRCm39)	L105P	probably benign	Het
Slc7a12	A	T	3: 14,546,200 (GRCm39)		probably null	Het
Slco1a4	A	G	6: 141,763,546 (GRCm39)	I390T	possibly damaging	Het
Snta1	T	C	2: 154,219,102 (GRCm39)	N411S	probably benign	Het
Srgap2	T	C	1: 131,277,279 (GRCm39)	T323A	probably benign	Het
Ssh2	G	T	11: 77,344,291 (GRCm39)	V759L	probably benign	Het
Swap70	G	T	7: 109,869,188 (GRCm39)	R327L	probably damaging	Het
Tbc1d4	C	A	14: 101,696,206 (GRCm39)	C914F	probably benign	Het
Tbx3	A	G	5: 119,812,132 (GRCm39)	D144G	probably damaging	Het
Tgfbr2	T	C	9: 115,939,212 (GRCm39)	K205R	possibly damaging	Het
Tmem94	A	T	11: 115,681,857 (GRCm39)		probably null	Het
Usf3	T	A	16: 44,041,468 (GRCm39)	F1983I	probably damaging	Het
Ush2a	T	A	1: 188,132,068 (GRCm39)	C763*	probably null	Het
Vmn1r115	A	C	7: 20,578,640 (GRCm39)	L91V	probably damaging	Het
Vmn1r201	A	T	13: 22,659,499 (GRCm39)	I238F	possibly damaging	Het
Vmn1r28	T	A	6: 58,242,476 (GRCm39)	S106R	probably damaging	Het
Vmn1r82	T	C	7: 12,039,012 (GRCm39)	V95A	probably damaging	Het
Vrk3	A	T	7: 44,419,035 (GRCm39)	N371I	possibly damaging	Het
Wnt8b	C	A	19: 44,500,082 (GRCm39)	A223E	probably benign	Het
Xirp2	T	C	2: 67,335,921 (GRCm39)		probably null	Het
Xpo7	T	C	14: 70,920,243 (GRCm39)	N642S	probably benign	Het
Ythdc1	G	A	5: 86,975,953 (GRCm39)	R520H	possibly damaging	Het
Zfp367	T	C	13: 64,283,204 (GRCm39)	E316G	probably damaging	Het
Zfp488	T	A	14: 33,692,751 (GRCm39)	R137S	possibly damaging	Het
Zfp532	G	T	18: 65,789,542 (GRCm39)	V994L	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
R5870:Pot1a	UTSW	6	25,778,950 (GRCm39)	missense	possibly damaging	0.90
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'- GGCCATGTAATTTTAAAGGCAGC -3'
(R):5'- AGATGGCTATACACGGTTTTAAGG -3'

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

Posted On

2017-10-10