Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01411:Pot1a'

80047

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pot1a

Ensembl Gene

ENSMUSG00000029676

Gene Name

protection of telomeres 1A

Synonyms

1500031H18Rik, Pot1

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01411

Quality Score

Status

Chromosome

Chromosomal Location

25743737-25809246 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 25750144 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

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

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

noncoding transcript
Transcript: ENSMUST00000134339

Predicted Effect

probably benign
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

Coding Region Coverage

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	G	A	19: 31,911,229	E36K	possibly damaging	Het
Alox8	A	T	11: 69,188,690	S257R	probably benign	Het
Apc2	T	C	10: 80,315,078	S1960P	probably damaging	Het
Arhgap35	T	C	7: 16,564,267	N291S	probably benign	Het
AW551984	A	T	9: 39,593,791	D468E	possibly damaging	Het
B3gnt6	A	C	7: 98,194,523	F77V	probably damaging	Het
C1qtnf7	A	T	5: 43,609,061	M1L	probably benign	Het
Calm3	T	C	7: 16,917,484	T63A	probably benign	Het
Ccdc33	G	A	9: 58,117,636		probably benign	Het
Cdh4	C	T	2: 179,780,403	R107C	probably damaging	Het
Cdr2l	A	G	11: 115,382,366	E15G	probably damaging	Het
Chil6	A	G	3: 106,388,825	W365R	probably damaging	Het
Ckap5	G	T	2: 91,601,011	R1525L	probably benign	Het
Col6a6	T	A	9: 105,785,958	K127*	probably null	Het
Dclre1b	A	G	3: 103,803,323	V298A	probably damaging	Het
Fat1	T	A	8: 45,026,800	V2961E	probably damaging	Het
Fhit	T	C	14: 9,573,483	D126G	probably benign	Het
Gpc1	T	C	1: 92,857,014	F303S	probably damaging	Het
Hsd17b4	T	A	18: 50,191,814	V698D	probably damaging	Het
Itpr2	C	T	6: 146,376,062		probably null	Het
Klhl4	A	T	X: 114,522,394	D168V	probably damaging	Het
Krt42	A	G	11: 100,263,341	L405P	possibly damaging	Het
Lrp1	A	T	10: 127,581,765	C85*	probably null	Het
Lrp2	A	G	2: 69,482,267	L2559P	probably damaging	Het
Maob	T	G	X: 16,712,569	R448S	possibly damaging	Het
Mast3	A	G	8: 70,779,583	V1250A	possibly damaging	Het
Mfsd4b5	C	T	10: 39,970,727	V286M	probably damaging	Het
Mlip	A	G	9: 77,239,417	I198T	possibly damaging	Het
Mocs3	T	C	2: 168,231,377	V248A	probably damaging	Het
Nxf2	T	A	X: 134,952,112	R367S	probably benign	Het
Olfr1404	T	G	1: 173,216,128	V159G	probably benign	Het
Olfr617	T	C	7: 103,584,117	W32R	probably damaging	Het
Parva	T	C	7: 112,577,010		probably benign	Het
Ptpra	T	C	2: 130,544,439	I603T	probably damaging	Het
Rad9a	T	C	19: 4,201,337	K33E	probably benign	Het
Rimbp3	A	G	16: 17,211,094	D794G	probably damaging	Het
Sept5	G	A	16: 18,624,930	R90C	probably damaging	Het
Skint8	T	A	4: 111,936,906	N164K	probably damaging	Het
Slc30a3	T	G	5: 31,090,080	I73L	probably benign	Het
Stab2	A	T	10: 86,980,008		probably benign	Het
Tnc	C	T	4: 64,000,722	V1155M	probably damaging	Het
Ttc13	T	G	8: 124,683,285	Q525P	probably damaging	Het
Ttn	T	C	2: 76,720,135	E31601G	probably damaging	Het
Unc5a	A	T	13: 55,002,928	D577V	probably damaging	Het
Usp18	G	A	6: 121,261,421	V176M	probably benign	Het
Vmn1r184	T	C	7: 26,266,895	V22A	probably benign	Het
Vmn1r33	T	A	6: 66,611,881	I230F	probably damaging	Het
Vmn1r51	A	G	6: 90,129,404	I101V	probably benign	Het
Vmn2r108	T	A	17: 20,471,020	M414L	probably benign	Het
Vmn2r87	A	C	10: 130,472,560	V603G	probably benign	Het
Wt1	A	G	2: 105,132,974	Y16C	probably damaging	Het
Wwp2	C	T	8: 107,506,345	T159I	probably benign	Het
Xirp2	T	C	2: 67,514,083	F2223L	probably benign	Het
Zan	T	A	5: 137,388,893	H4966L	unknown	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
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
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
R9070:Pot1a	UTSW	6	25744630	missense

Posted On

2013-11-05