Mutagenetix > Incidental Mutations

Incidental Mutation 'R6513:Telo2'

520034

Institutional Source

Beutler Lab

Gene Symbol

Telo2

Ensembl Gene

ENSMUSG00000024170

Gene Name

telomere maintenance 2

Synonyms

1200003M09Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R6513 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

25099570-25115967 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 25101412 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 766 (Y766C)

Ref Sequence

ENSEMBL: ENSMUSP00000110835 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024983] [ENSMUST00000024987] [ENSMUST00000115181]

Predicted Effect

probably benign
Transcript: ENSMUST00000024983

SMART Domains

Protein: ENSMUSP00000024983
Gene: ENSMUSG00000024169

Domain	Start	End	E-Value	Type
WD40	55	89	6.14e1	SMART
WD40	91	131	1.49e0	SMART
Blast:WD40	252	304	3e-15	BLAST
WD40	308	352	2.76e0	SMART
Blast:WD40	364	405	8e-17	BLAST
Blast:WD40	510	547	6e-13	BLAST
Blast:WD40	560	603	3e-7	BLAST
Blast:TPR	863	896	9e-13	BLAST
Blast:TPR	1011	1044	1e-13	BLAST
Blast:TPR	1377	1410	8e-13	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000024987
AA Change: Y766C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000024987
Gene: ENSMUSG00000024170
AA Change: Y766C

Domain	Start	End	E-Value	Type
Pfam:Telomere_reg-2	513	621	3.8e-38	PFAM
low complexity region	771	782	N/A	INTRINSIC
low complexity region	816	837	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000115181
AA Change: Y766C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000110835
Gene: ENSMUSG00000024170
AA Change: Y766C

Domain	Start	End	E-Value	Type
Pfam:Telomere_reg-2	513	621	3.8e-38	PFAM
low complexity region	771	782	N/A	INTRINSIC
low complexity region	816	837	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142000

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143390

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152460

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153895

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155607

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155632

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156698

Meta Mutation Damage Score

0.2266

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.8%
20x: 93.4%

Validation Efficiency

98% (62/63)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that functions as an S-phase checkpoint protein in the cell cycle. The protein may also play a role in DNA repair.[provided by RefSeq, Mar 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality prior to E13.5. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438H23Rik	T	C	16: 91,055,766	S161G	probably benign	Het
Ankfy1	G	A	11: 72,730,482	R198Q	possibly damaging	Het
Ankrd11	A	G	8: 122,890,180	V2290A	probably benign	Het
Aox4	A	G	1: 58,213,053	N29S	probably benign	Het
Arhgap17	T	C	7: 123,292,156	R592G	possibly damaging	Het
BC027072	T	A	17: 71,744,706	E1217V	probably damaging	Het
C87414	C	A	5: 93,637,532		probably null	Het
Caap1	A	T	4: 94,501,403	D231E	possibly damaging	Het
Cabp1	T	A	5: 115,169,134	M165L	possibly damaging	Het
Cep72	A	T	13: 74,058,463	L73H	probably damaging	Het
Cfap74	A	G	4: 155,441,286	S731G	probably null	Het
Dsc2	T	C	18: 20,046,238	I258V	probably benign	Het
Dsg1c	T	G	18: 20,274,630	N344K	probably benign	Het
Enah	A	G	1: 182,014,355		probably benign	Het
Fam26d	T	A	10: 34,041,634	R274*	probably null	Het
Fbn1	T	A	2: 125,383,671	S554C	probably damaging	Het
Fkrp	C	A	7: 16,811,112	R275L	possibly damaging	Het
Gbp4	C	T	5: 105,123,120	G215D	possibly damaging	Het
Gli2	G	A	1: 118,855,554	L239F	probably damaging	Het
Gpr146	A	G	5: 139,392,818	D125G	probably damaging	Het
Hectd4	C	A	5: 121,356,196		probably null	Het
Invs	G	A	4: 48,397,534	V370I	possibly damaging	Het
Kdm2b	A	G	5: 122,880,239	V1040A	probably damaging	Het
Kidins220	T	A	12: 25,038,435	V1059D	possibly damaging	Het
Kif1bp	T	C	10: 62,575,034		probably null	Het
Kif26a	T	A	12: 112,175,492	S727T	probably damaging	Het
Klk1b27	A	G	7: 44,055,745	H112R	probably benign	Het
Krt72	T	G	15: 101,776,752		probably null	Het
Lactb	C	T	9: 66,970,890	R219H	probably damaging	Het
Lrig2	A	T	3: 104,465,729	I612N	probably damaging	Het
Meaf6	A	C	4: 125,089,904	N51T	probably damaging	Het
Mtap	A	G	4: 89,148,261	T36A	possibly damaging	Het
Myo3a	G	A	2: 22,407,332	G713S	probably damaging	Het
Nr4a3	C	T	4: 48,083,255	T596I	probably damaging	Het
Olfr1306	C	G	2: 111,912,883	G16R	possibly damaging	Het
Olfr1338	A	T	4: 118,754,027	C172*	probably null	Het
Pam	A	G	1: 97,838,027	V759A	possibly damaging	Het
Pds5a	T	A	5: 65,615,601	I1220F	probably benign	Het
Phldb2	T	A	16: 45,747,877	M1222L	possibly damaging	Het
Phospho1	C	T	11: 95,830,687	A61V	possibly damaging	Het
Pnpla7	G	A	2: 25,016,538	V638I	possibly damaging	Het
Ptf1a	T	A	2: 19,447,037	D282E	probably damaging	Het
Ptgs2	A	T	1: 150,100,128		probably benign	Het
Racgap1	T	C	15: 99,624,275	R471G	probably damaging	Het
Rptn	T	C	3: 93,396,112	S251P	possibly damaging	Het
Shcbp1	T	C	8: 4,744,507	M429V	probably benign	Het
Shprh	T	C	10: 11,186,893	L1248P	probably damaging	Het
Son	T	C	16: 91,659,947		probably benign	Het
Sppl3	T	C	5: 115,095,936	L355P	probably damaging	Het
Tbc1d31	A	T	15: 57,955,382	R794W	probably damaging	Het
Tfr2	A	G	5: 137,574,531		probably null	Het
Tle4	T	C	19: 14,451,692	D722G	probably damaging	Het
Tprgl	A	G	4: 154,159,405	V98A	probably benign	Het
Trak1	C	T	9: 121,443,756	R237C	probably benign	Het
Vmn2r113	T	C	17: 22,958,741	I833T	probably damaging	Het
Vmn2r118	T	A	17: 55,608,093	S518C	probably damaging	Het
Vmn2r49	A	G	7: 9,976,597	I736T	probably damaging	Het
Wdr38	T	A	2: 38,999,958		probably null	Het
Wee2	A	G	6: 40,452,619	E180G	probably benign	Het
Zbtb1	T	C	12: 76,385,830	S197P	possibly damaging	Het
Zc3h7a	T	C	16: 11,158,765		probably null	Het
Zfp516	T	A	18: 82,955,710	L11Q	probably damaging	Het
Zfp623	G	A	15: 75,947,468	R91H	probably benign	Het
Zkscan7	G	A	9: 122,896,105	R713Q	probably benign	Het

Other mutations in Telo2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01340:Telo2	APN	17	25100129	splice site	probably benign
IGL01398:Telo2	APN	17	25105774	missense	probably benign	0.00
IGL01878:Telo2	APN	17	25101358	missense	probably benign	0.19
IGL02728:Telo2	APN	17	25104654	missense	probably damaging	1.00
R0669:Telo2	UTSW	17	25105823	missense	probably benign	0.01
R0671:Telo2	UTSW	17	25113165	missense	probably benign	0.00
R1783:Telo2	UTSW	17	25102738	splice site	probably null
R1869:Telo2	UTSW	17	25114994	missense	probably benign	0.32
R1988:Telo2	UTSW	17	25101668	missense	probably benign	0.04
R2018:Telo2	UTSW	17	25105408	missense	probably damaging	1.00
R2167:Telo2	UTSW	17	25110818	missense	probably benign
R2219:Telo2	UTSW	17	25103699	missense	probably benign	0.00
R3421:Telo2	UTSW	17	25110752	missense	probably damaging	0.99
R3880:Telo2	UTSW	17	25106833	missense	probably damaging	1.00
R4190:Telo2	UTSW	17	25102013	missense	probably benign	0.00
R4299:Telo2	UTSW	17	25115256	missense	possibly damaging	0.94
R4574:Telo2	UTSW	17	25101673	missense	probably damaging	1.00
R4600:Telo2	UTSW	17	25105148	missense	possibly damaging	0.79
R6010:Telo2	UTSW	17	25104878	missense	possibly damaging	0.79
R6185:Telo2	UTSW	17	25102040	missense	probably benign	0.29
R7352:Telo2	UTSW	17	25102069	missense	probably damaging	1.00
R7538:Telo2	UTSW	17	25110821	missense	probably benign	0.08
R8347:Telo2	UTSW	17	25104637	nonsense	probably null
R8754:Telo2	UTSW	17	25102067	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTCATCACGCCTCTCAGAG -3'
(R):5'- CTAACAAGTAGTCCGTCCTGCC -3'

Sequencing Primer
(F):5'- CTCTCAGAGGTGTGGGTCAGAC -3'
(R):5'- TAGTCCGTCCTGCCTGAGG -3'

Posted On

2018-06-06