Mutagenetix > Incidental Mutation

Incidental Mutation 'R6377:Pot1a'

515042

Institutional Source

Beutler Lab

Gene Symbol

Pot1a

Ensembl Gene

ENSMUSG00000029676

Gene Name

protection of telomeres 1A

Synonyms

1500031H18Rik, Pot1

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R6377 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

25743737-25809246 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25778870 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 75 (V75A)

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: V75A

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000110982
Gene: ENSMUSG00000029676
AA Change: V75A

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: V75A

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000110986
Gene: ENSMUSG00000029676
AA Change: V75A

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: V75A

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000131928
Gene: ENSMUSG00000029676
AA Change: V75A

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: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.8%

Validation Efficiency

94% (59/63)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankib1	A	G	5: 3,693,855	S812P	possibly damaging	Het
Atp2c2	A	G	8: 119,726,354	E159G	probably benign	Het
Atrn	A	G	2: 130,979,969	I861V	probably damaging	Het
AW822073	T	C	10: 58,223,672		probably benign	Het
Clip1	A	G	5: 123,603,654	V1053A	possibly damaging	Het
Cngb1	C	A	8: 95,248,980	G629C	probably damaging	Het
Cntn5	A	T	9: 9,743,652	F540Y	probably damaging	Het
Cpb1	A	C	3: 20,275,584		probably null	Het
Cyp4a14	A	G	4: 115,496,083	Y11H	probably benign	Het
Dact2	A	G	17: 14,199,188	S103P	probably damaging	Het
Dcstamp	A	T	15: 39,754,921	Y242F	probably benign	Het
Drd3	G	T	16: 43,821,307	G329*	probably null	Het
Dysf	T	A	6: 84,008,963	S17T	probably benign	Het
Eno1	A	T	4: 150,248,552	K366N	possibly damaging	Het
Ffar2	C	T	7: 30,819,546	V190I	probably benign	Het
Fkbp15	T	C	4: 62,324,192	T508A	probably damaging	Het
Fndc1	A	G	17: 7,769,735	V1165A	unknown	Het
Foxj3	A	T	4: 119,573,748		probably null	Het
Gabarap	T	C	11: 69,991,804		probably null	Het
Gm14025	T	A	2: 129,036,811	D1065V	unknown	Het
Gm19410	T	A	8: 35,803,582	L1221*	probably null	Het
Gpat2	G	C	2: 127,431,918	G294R	possibly damaging	Het
Igf1r	A	T	7: 68,201,250	Y931F	probably benign	Het
Il23r	A	T	6: 67,423,652	S565T	probably damaging	Het
Ipo8	A	T	6: 148,816,497	Y209*	probably null	Het
Jph2	C	T	2: 163,339,712	G511R	probably benign	Het
Khdrbs1	C	A	4: 129,742,097	D22Y	probably damaging	Het
Kif5b	A	T	18: 6,212,562	L754Q	probably damaging	Het
Ksr1	C	T	11: 79,036,494		probably null	Het
L3mbtl4	G	T	17: 68,777,923	V610F	probably benign	Het
Lars2	A	G	9: 123,454,760	T698A	probably benign	Het
Lonp1	A	G	17: 56,621,961	V267A	possibly damaging	Het
Loxhd1	T	A	18: 77,380,432	D925E	probably damaging	Het
Lsg1	A	G	16: 30,574,568	L187P	possibly damaging	Het
Mki67	A	T	7: 135,696,321	V2328E	possibly damaging	Het
Mlh3	A	G	12: 85,268,497	I305T	probably damaging	Het
Mtbp	A	G	15: 55,557,620	M1V	probably null	Het
Myadml2	C	A	11: 120,647,712	C99F	probably benign	Het
Ncbp1	A	G	4: 46,150,703	Y185C	probably damaging	Het
Ndufaf7	A	T	17: 78,943,310	Q222L	probably null	Het
Nlrp4b	A	T	7: 10,715,412	Y147F	probably benign	Het
Olfr1205	C	T	2: 88,831,269	R51*	probably null	Het
Pet100	T	C	8: 3,622,370	V15A	probably benign	Het
Ptprs	A	T	17: 56,418,935	M1043K	probably damaging	Het
Rnf31	A	G	14: 55,595,527	T413A	probably damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,579,904		probably benign	Homo
Rsf1	CG	CGACGGCGGTG	7: 97,579,908		probably benign	Het
Rubcnl	A	T	14: 75,050,195		probably null	Het
Ryr3	A	T	2: 112,632,185	C4839S	probably damaging	Het
Scai	A	C	2: 39,102,328	D379E	probably benign	Het
Scd2	G	T	19: 44,299,759	G197*	probably null	Het
Sdr39u1	A	C	14: 55,897,709	I259S	probably benign	Het
Slco1a5	A	T	6: 142,242,180		probably null	Het
Sp1	A	T	15: 102,430,883	T733S	probably benign	Het
Tecta	A	G	9: 42,343,755	S1711P	probably damaging	Het
Tedc1	G	T	12: 113,161,355	W240L	probably damaging	Het
Trim50	A	G	5: 135,353,600	K102R	probably benign	Het
Tusc5	T	C	11: 76,680,529	S124P	probably damaging	Het
Utrn	A	G	10: 12,744,083	Y278H	probably damaging	Het
Vmn2r109	A	C	17: 20,564,534		probably null	Het
Zbed5	T	C	5: 129,903,369	S720P	possibly damaging	Het
Zc3h3	A	G	15: 75,839,455	S386P	probably damaging	Het
Zscan4-ps1	C	T	7: 11,068,491		probably null	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
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
R9525:Pot1a	UTSW	6	25745917	missense	probably benign	0.06
R9574:Pot1a	UTSW	6	25775719	missense	not run

Predicted Primers

PCR Primer
(F):5'- TCTAGCTACTAATGAAGCCTGATAC -3'
(R):5'- GCTAAAGGTTAAATTCAGAGCCTTGC -3'

Sequencing Primer
(F):5'- CTGTTAGTGAACAATGCAGC -3'
(R):5'- AGCCTTGCTCATGTTAGGCAAAC -3'

Posted On

2018-05-04