Mutagenetix > Incidental Mutations

Incidental Mutation 'R4782:Terf2'

366608

Institutional Source

Beutler Lab

Gene Symbol

Terf2

Ensembl Gene

ENSMUSG00000031921

Gene Name

telomeric repeat binding factor 2

Synonyms

TRF2

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4782 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

107069400-107096547 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 107076675 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 425 (H425Q)

Ref Sequence

ENSEMBL: ENSMUSP00000112126 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068388] [ENSMUST00000068421] [ENSMUST00000116425] [ENSMUST00000133925]

Predicted Effect

probably benign
Transcript: ENSMUST00000068388

SMART Domains

Protein: ENSMUSP00000065586
Gene: ENSMUSG00000031921

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
low complexity region	31	42	N/A	INTRINSIC
low complexity region	47	75	N/A	INTRINSIC
low complexity region	77	96	N/A	INTRINSIC
Pfam:TRF	97	297	7.5e-39	PFAM
PDB:3K6G\|F	318	356	2e-12	PDB
SANT	422	473	1.71e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000068421
AA Change: H425Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000068948
Gene: ENSMUSG00000031921
AA Change: H425Q

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
low complexity region	31	42	N/A	INTRINSIC
low complexity region	47	75	N/A	INTRINSIC
low complexity region	77	96	N/A	INTRINSIC
Pfam:TRF	97	296	3e-38	PFAM
Pfam:TERF2_RBM	320	360	5.1e-22	PFAM
SANT	487	538	1.71e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000116425
AA Change: H425Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000112126
Gene: ENSMUSG00000031921
AA Change: H425Q

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
low complexity region	31	42	N/A	INTRINSIC
low complexity region	47	75	N/A	INTRINSIC
low complexity region	77	96	N/A	INTRINSIC
Pfam:TRF	97	297	1.5e-38	PFAM
PDB:3K6G\|F	319	359	4e-14	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000133925
AA Change: H424Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000118759
Gene: ENSMUSG00000031921
AA Change: H424Q

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
low complexity region	31	42	N/A	INTRINSIC
low complexity region	47	75	N/A	INTRINSIC
low complexity region	77	96	N/A	INTRINSIC
Pfam:TRF	97	297	9.9e-39	PFAM
PDB:3K6G\|F	318	358	3e-14	PDB
SANT	486	537	1.71e-12	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136178

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141205

Predicted Effect

probably benign
Transcript: ENSMUST00000142616

SMART Domains

Protein: ENSMUSP00000118589
Gene: ENSMUSG00000031921

Domain	Start	End	E-Value	Type
Pfam:TRF	1	178	2.6e-34	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155834

Meta Mutation Damage Score

0.1316

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a telomere specific protein, TERF2, which is a component of the telomere nucleoprotein complex. This protein is present at telomeres in metaphase of the cell cycle, is a second negative regulator of telomere length and plays a key role in the protective activity of telomeres. While having similar telomere binding activity and domain organization, TERF2 differs from TERF1 in that its N terminus is basic rather than acidic. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display embryonic lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 121 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,328,096	E3092G	probably damaging	Het
Abhd12b	C	G	12: 70,169,064	S170C	probably damaging	Het
Abtb2	A	T	2: 103,717,299	D1006V	probably benign	Het
Adgrl1	A	G	8: 83,935,573	H1021R	probably benign	Het
Ago3	A	T	4: 126,347,872		probably null	Het
Ahnak	A	G	19: 9,012,499		probably benign	Het
Akap6	CA	C	12: 52,887,623		probably null	Het
Amotl2	T	G	9: 102,720,123		probably null	Het
Ankrd34b	T	A	13: 92,438,305	I15N	probably damaging	Het
Ap3d1	C	T	10: 80,721,586		probably null	Het
Appl2	A	T	10: 83,600,991	D635E	probably damaging	Het
Arid1b	C	T	17: 5,339,221	P1681S	probably damaging	Het
Atp10a	T	C	7: 58,791,095	M496T	probably benign	Het
Atp2c2	A	G	8: 119,749,152	K595E	probably damaging	Het
Atpaf2	T	C	11: 60,404,412	H204R	probably damaging	Het
Atr	G	A	9: 95,862,797	V56I	probably benign	Het
Bod1l	G	A	5: 41,833,663	T183I	probably benign	Het
Btbd11	A	C	10: 85,654,550	I1027L	probably damaging	Het
Ccdc171	A	T	4: 83,681,016	E689D	probably damaging	Het
Cdc73	T	A	1: 143,627,875	Q346L	probably benign	Het
Chd2	A	T	7: 73,484,436	M721K	possibly damaging	Het
Col22a1	T	A	15: 71,801,925	T981S	unknown	Het
Col4a3bp	T	C	13: 96,612,265	V281A	probably benign	Het
Cpox	G	A	16: 58,672,623	A207T	probably damaging	Het
Cym	G	A	3: 107,216,097	T160I	possibly damaging	Het
D130043K22Rik	T	C	13: 24,878,040	I664T	probably damaging	Het
Ddx4	C	T	13: 112,613,696		probably null	Het
Ddx4	A	T	13: 112,651,360	V15E	probably benign	Het
Depdc1a	G	A	3: 159,526,636	E675K	probably damaging	Het
Dglucy	A	T	12: 100,850,343	M415L	probably benign	Het
Dlg4	C	T	11: 70,026,954	P21L	probably damaging	Het
Dmxl1	A	T	18: 49,862,992	N395I	probably damaging	Het
Dzank1	A	T	2: 144,504,399	C249S	probably damaging	Het
Efnb2	A	T	8: 8,623,104		probably null	Het
Ercc6l2	T	G	13: 63,834,738	I244S	probably damaging	Het
Ewsr1	A	T	11: 5,070,423	M584K	unknown	Het
Fam193b	A	G	13: 55,543,471	S197P	probably damaging	Het
Fanca	A	G	8: 123,288,202	V689A	probably damaging	Het
Fbxo31	A	T	8: 121,552,439	Y436*	probably null	Het
Fbxo31	A	G	8: 121,552,441	Y436H	probably damaging	Het
Fcna	T	A	2: 25,625,326	D215V	probably damaging	Het
Foxj3	A	T	4: 119,621,660	S438C	unknown	Het
Gcm2	T	C	13: 41,103,494	K260E	possibly damaging	Het
Gcnt4	A	T	13: 96,947,406	L403F	possibly damaging	Het
Gdf10	A	G	14: 33,931,913	T126A	probably benign	Het
Ggcx	A	G	6: 72,428,892	K569E	probably benign	Het
Gm10250	C	T	15: 5,121,096		probably benign	Het
Gm8251	T	C	1: 44,059,043	D965G	possibly damaging	Het
Gpnmb	G	T	6: 49,045,483		probably null	Het
Ifi44	G	A	3: 151,745,592	P241S	probably damaging	Het
Irs1	T	C	1: 82,287,463	T1011A	probably benign	Het
Jag2	A	T	12: 112,914,249	S595T	probably benign	Het
Kif5a	T	A	10: 127,230,954	Q960L	probably benign	Het
Kifc2	A	G	15: 76,664,348	E430G	possibly damaging	Het
Lama3	T	A	18: 12,411,570	C323*	probably null	Het
Lgsn	T	C	1: 31,203,742	Y302H	probably benign	Het
Lmbrd1	G	A	1: 24,744,975		probably null	Het
Lrpap1	A	G	5: 35,099,278	V120A	probably damaging	Het
Macrod2	T	A	2: 140,419,938	D46E	possibly damaging	Het
Mbd4	C	A	6: 115,845,322	R63L	possibly damaging	Het
Mfsd10	T	C	5: 34,634,949		probably benign	Het
Mib2	G	T	4: 155,659,772	S144R	probably benign	Het
Muc5b	T	A	7: 141,847,716	C566*	probably null	Het
Ndufs1	C	A	1: 63,160,949	G268V	probably damaging	Het
Nfs1	A	G	2: 156,134,449	V175A	possibly damaging	Het
Ngb	G	A	12: 87,100,225	H73Y	probably benign	Het
Npepps	G	A	11: 97,226,826	T549I	probably damaging	Het
Nr1h2	A	G	7: 44,550,499	V329A	possibly damaging	Het
Nsun6	T	C	2: 15,036,326	I151M	possibly damaging	Het
Ofcc1	T	C	13: 40,001,892		probably null	Het
Olfr1388	T	A	11: 49,443,869	F6Y	probably benign	Het
Olfr262	C	T	19: 12,241,572	V30I	probably benign	Het
Olfr372	A	G	8: 72,058,094	N138S	probably benign	Het
Olfr391-ps	C	T	11: 73,798,839	C306Y	probably benign	Het
Olfr555	T	A	7: 102,658,834	N4K	possibly damaging	Het
Olfr910	A	G	9: 38,539,075	Y60C	probably damaging	Het
Parp6	A	G	9: 59,634,984		probably null	Het
Pcnt	C	A	10: 76,409,577	R1075S	possibly damaging	Het
Pla2g4f	T	C	2: 120,303,276	E548G	probably damaging	Het
Polrmt	G	T	10: 79,739,523	H725N	probably benign	Het
Pou2f3	T	C	9: 43,139,858	T178A	probably damaging	Het
Prtn3	C	A	10: 79,882,065	P169H	probably damaging	Het
Ptprd	A	G	4: 76,091,532	I764T	probably benign	Het
Ptprh	A	T	7: 4,569,577	H467Q	probably benign	Het
Raph1	A	T	1: 60,489,114	I996N	probably damaging	Het
Rasa4	G	A	5: 136,091,229	W53*	probably null	Het
Rasgrp1	C	T	2: 117,284,875	R744Q	probably benign	Het
Rmnd5a	T	C	6: 71,413,349	E141G	probably damaging	Het
Rps12	T	C	10: 23,786,790	I51M	possibly damaging	Het
Scn10a	T	G	9: 119,622,910	S1316R	possibly damaging	Het
Sdhb	A	G	4: 140,977,466	H246R	possibly damaging	Het
Setx	G	A	2: 29,144,046	R332Q	probably damaging	Het
Siglec1	A	C	2: 131,075,923	S1011R	probably damaging	Het
Sin3b	A	C	8: 72,725,643	I126L	probably benign	Het
Slc11a1	T	G	1: 74,384,088	L366R	probably damaging	Het
Slc12a1	C	T	2: 125,161,079	R177*	probably null	Het
Slc30a1	A	C	1: 191,909,048	K269Q	probably benign	Het
Slco1a5	T	C	6: 142,248,807	Y370C	possibly damaging	Het
Slf2	T	A	19: 44,934,925		probably null	Het
Sltm	A	G	9: 70,589,057	H958R	probably damaging	Het
Snrnp40	A	G	4: 130,362,756	I91M	probably damaging	Het
Spta1	A	T	1: 174,230,666	Q1900L	probably benign	Het
Srgn	C	T	10: 62,497,852	E49K	possibly damaging	Het
Ssu2	A	C	6: 112,376,450	C238G	probably damaging	Het
Thra	G	A	11: 98,756,164	S37N	probably benign	Het
Toporsl	A	G	4: 52,610,845	D246G	probably damaging	Het
Ubap2l	G	A	3: 90,020,903	T553M	probably damaging	Het
Usp10	A	G	8: 119,941,191	Y77C	probably benign	Het
Utrn	T	C	10: 12,750,069	T123A	probably damaging	Het
Vmn1r204	T	G	13: 22,556,697	F166C	probably benign	Het
Vmn2r14	T	C	5: 109,221,504	I68V	probably benign	Het
Wls	C	T	3: 159,897,445	T165I	probably benign	Het
Wsb1	A	G	11: 79,240,373	M399T	probably benign	Het
Xbp1	C	T	11: 5,521,167	T58M	probably damaging	Het
Zbtb46	A	T	2: 181,391,136	D577E	probably benign	Het
Zfp366	A	G	13: 99,246,483	D718G	probably damaging	Het
Zfp408	A	T	2: 91,645,024	V595E	possibly damaging	Het
Zfp493	T	A	13: 67,786,203	W60R	probably null	Het
Zfp606	A	T	7: 12,494,005	K626N	probably damaging	Het
Zfp820	A	T	17: 21,818,985	L454Q	probably benign	Het
Zswim5	A	G	4: 116,972,972	I515V	probably benign	Het

Other mutations in Terf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02823:Terf2	APN	8	107072625	missense	possibly damaging	0.89
IGL02879:Terf2	APN	8	107076697	missense	probably benign	0.02
IGL03368:Terf2	APN	8	107070549	missense	probably damaging	1.00
PIT1430001:Terf2	UTSW	8	107096302	missense	probably damaging	0.98
R0454:Terf2	UTSW	8	107096210	nonsense	probably null
R0615:Terf2	UTSW	8	107082990	missense	possibly damaging	0.90
R1983:Terf2	UTSW	8	107083008	missense	probably damaging	0.99
R3051:Terf2	UTSW	8	107079384	missense	possibly damaging	0.88
R3053:Terf2	UTSW	8	107079384	missense	possibly damaging	0.88
R4210:Terf2	UTSW	8	107079448	missense	probably damaging	1.00
R4799:Terf2	UTSW	8	107076675	missense	probably benign	0.00
R4994:Terf2	UTSW	8	107076478	intron	probably benign
R6414:Terf2	UTSW	8	107076854	missense	probably benign	0.01
R6777:Terf2	UTSW	8	107070537	missense	possibly damaging	0.95
T0722:Terf2	UTSW	8	107076674	missense	probably benign
Z1088:Terf2	UTSW	8	107081223	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCTAGCAGTCTGAGCAAGC -3'
(R):5'- TGGTACTTGCTAATCTGGCATCC -3'

Sequencing Primer
(F):5'- TAGCAGTCTGAGCAAGCCTTGG -3'
(R):5'- GCTAATCTGGCATCCCCATC -3'

Posted On

2015-12-29