Mutagenetix > Incidental Mutation

Incidental Mutation 'R7251:Pot1a'

568704

Institutional Source

Beutler Lab

Gene Symbol

Pot1a

Ensembl Gene

ENSMUSG00000029676

Gene Name

protection of telomeres 1A

Synonyms

1500031H18Rik, Pot1

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7251 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

25743737-25809246 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 25752498 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000131928 (fasta)

Gene Model

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

AlphaFold

Q91WC1

Predicted Effect

probably null
Transcript: ENSMUST00000115330

SMART Domains

Protein: ENSMUSP00000110986
Gene: ENSMUSG00000029676

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

Predicted Effect

probably null
Transcript: ENSMUST00000166445

SMART Domains

Protein: ENSMUSP00000131928
Gene: ENSMUSG00000029676

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

0.9755

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

97% (66/68)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930480E11Rik	G	T	X: 78,370,705	M345I	probably benign	Het
Adamts19	A	T	18: 58,837,902	D186V	probably damaging	Het
Agrn	T	C	4: 156,174,606	D884G	probably damaging	Het
Akr1c6	T	A	13: 4,447,020	C154S	probably damaging	Het
Apob	T	C	12: 8,007,037	Y1840H	probably damaging	Het
Arfgef1	T	C	1: 10,198,975	E399G	possibly damaging	Het
Arg2	G	A	12: 79,150,798	G197S	probably damaging	Het
Arhgap32	T	C	9: 32,208,185	V308A	probably damaging	Het
Atcay	A	T	10: 81,210,532	C319*	probably null	Het
Bend4	C	G	5: 67,427,533	R16P	unknown	Het
Braf	A	G	6: 39,677,570		probably null	Het
Camsap1	T	C	2: 25,938,886	E942G	probably damaging	Het
Cdpf1	C	T	15: 85,809,293	G11D	probably damaging	Het
Cgn	T	C	3: 94,776,199	E382G	possibly damaging	Het
Cndp1	T	A	18: 84,622,197	E294D	probably benign	Het
Cnn1	T	A	9: 22,108,217	Y294N	unknown	Het
Cyp2ab1	A	G	16: 20,315,896	F104S	possibly damaging	Het
Cyp2t4	G	A	7: 27,157,719	V336M	possibly damaging	Het
D430041D05Rik	T	A	2: 104,221,166	D782V	probably damaging	Het
Ddx39b	A	G	17: 35,253,488	*429W	probably null	Het
Dgkb	T	C	12: 37,981,986	S16P	possibly damaging	Het
Dll4	T	C	2: 119,332,292	C465R	probably damaging	Het
Dsp	A	G	13: 38,193,548	I1770V	probably benign	Het
Fbxw11	A	G	11: 32,731,370	N250S	probably benign	Het
Fsip2	G	A	2: 82,979,081	V1915M	possibly damaging	Het
Greb1l	G	A	18: 10,515,319	V704M	probably damaging	Het
Hgf	T	A	5: 16,593,944	N323K	possibly damaging	Het
Hhatl	A	T	9: 121,785,050		probably null	Het
Hip1r	T	C	5: 123,994,750	S204P	probably damaging	Het
Igsf10	T	A	3: 59,319,454	N2266I	probably damaging	Het
Krtap15	A	G	16: 88,829,094		probably null	Het
Lrp1	T	C	10: 127,572,554	D1751G	probably damaging	Het
Madd	A	T	2: 91,162,176	D1050E	probably benign	Het
Man1c1	C	T	4: 134,580,836	G323R	probably damaging	Het
Mgll	A	G	6: 88,823,375	E252G	probably benign	Het
Muc2	A	G	7: 141,692,722	N145S	possibly damaging	Het
Ncoa2	C	T	1: 13,148,375	S1410N	probably benign	Het
Nek10	A	G	14: 14,853,965	T384A	probably benign	Het
Nexn	T	C	3: 152,247,195	E310G	probably damaging	Het
Nol10	T	C	12: 17,402,107	L354P	probably damaging	Het
Npy4r	T	C	14: 34,146,915	R139G	probably damaging	Het
Nup160	A	G	2: 90,700,174	E463G	probably damaging	Het
Olfr1062	G	A	2: 86,423,596	L27F	probably benign	Het
Olfr301	T	C	7: 86,413,001	V213A	probably benign	Het
Olfr622	C	T	7: 103,639,702	G146D	probably damaging	Het
Pdzd8	A	T	19: 59,300,645	N774K	possibly damaging	Het
Pmpca	G	C	2: 26,395,034	E424Q	possibly damaging	Het
Ppip5k1	T	A	2: 121,347,571	E283D	probably benign	Het
Ptpn2	A	C	18: 67,675,792	I318R	possibly damaging	Het
Raph1	A	G	1: 60,489,868	F745L	unknown	Het
Rgs19	C	T	2: 181,689,748	V88I	probably benign	Het
Ripk4	A	G	16: 97,743,249	S733P	probably benign	Het
Rprd1b	T	A	2: 158,028,979	W29R	probably damaging	Het
Rtkn	A	G	6: 83,135,962	N5S	probably damaging	Het
Sh3bp5l	A	T	11: 58,341,302	Q131L	probably damaging	Het
Slain2	T	A	5: 72,974,548	F461I	possibly damaging	Het
Stk24	A	T	14: 121,308,022	L108Q	probably damaging	Het
Syne3	TC	T	12: 104,961,571		probably null	Het
Tapbpl	A	T	6: 125,226,595	V374E	probably damaging	Het
Tax1bp1	A	G	6: 52,721,356	I18V	possibly damaging	Het
Tecta	T	A	9: 42,387,752	I233F	probably damaging	Het
Tet3	A	G	6: 83,404,056	S377P	probably benign	Het
Uty	A	G	Y: 1,154,262	S721P	probably benign	Het
Wnk4	C	A	11: 101,265,153	T412K	possibly damaging	Het
Zdhhc11	G	T	13: 73,992,097	V336L	probably benign	Het
Zfp605	T	A	5: 110,127,960	S315T	probably damaging	Het
Zfp746	A	G	6: 48,064,877	L305P	probably 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
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
R6180:Pot1a	UTSW	6	25771621	missense	probably benign	0.00
R6377:Pot1a	UTSW	6	25778870	missense	probably benign	0.06
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'- GACATAGCTGTAAGCCAAGAGC -3'
(R):5'- GCCTTGGGAAGCCATGATAATG -3'

Sequencing Primer
(F):5'- GCTTGAGCTGACCACATACC -3'
(R):5'- CTCCTGCTGAGTTTAAGTTT -3'

Posted On

2019-09-13