Mutagenetix > Incidental Mutation

Incidental Mutation 'R0454:Terf2'

39887

Institutional Source

Beutler Lab

Gene Symbol

Terf2

Ensembl Gene

ENSMUSG00000031921

Gene Name

telomeric repeat binding factor 2

Synonyms

TRF2

MMRRC Submission

038654-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0454 (G1)

Quality Score

189

Status

Not validated

Chromosome

Chromosomal Location

107796032-107823179 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 107822842 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Stop codon at position 100 (W100*)

Ref Sequence

ENSEMBL: ENSMUSP00000118759 (fasta)

Gene Model

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

AlphaFold

O35144

Predicted Effect

probably null
Transcript: ENSMUST00000068388
AA Change: W100*

SMART Domains

Protein: ENSMUSP00000065586
Gene: ENSMUSG00000031921
AA Change: W100*

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 null
Transcript: ENSMUST00000068421
AA Change: W100*

SMART Domains

Protein: ENSMUSP00000068948
Gene: ENSMUSG00000031921
AA Change: W100*

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 null
Transcript: ENSMUST00000116425
AA Change: W100*

SMART Domains

Protein: ENSMUSP00000112126
Gene: ENSMUSG00000031921
AA Change: W100*

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 null
Transcript: ENSMUST00000133925
AA Change: W100*

SMART Domains

Protein: ENSMUSP00000118759
Gene: ENSMUSG00000031921
AA Change: W100*

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

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: ENSMUST00000184187

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.8%

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447F04Rik	T	C	X: 65,347,274 (GRCm39)	E91G	unknown	Het
Acot1	A	G	12: 84,064,113 (GRCm39)	Q407R	probably benign	Het
Adcy10	T	A	1: 165,398,297 (GRCm39)	Y1465N	probably damaging	Het
Ahsa2	T	A	11: 23,440,702 (GRCm39)	I249F	probably damaging	Het
Arhgap10	T	C	8: 77,977,594 (GRCm39)	N721S	probably damaging	Het
Arrdc4	T	G	7: 68,391,619 (GRCm39)	E216A	probably damaging	Het
Axin1	T	C	17: 26,392,637 (GRCm39)	V306A	probably benign	Het
Cct3	T	C	3: 88,210,173 (GRCm39)		probably null	Het
Cfap58	G	A	19: 47,963,119 (GRCm39)		probably null	Het
Chd9	T	C	8: 91,699,859 (GRCm39)	S49P	possibly damaging	Het
Clcn2	C	A	16: 20,529,178 (GRCm39)		probably null	Het
Col26a1	T	C	5: 136,783,047 (GRCm39)	N286D	probably benign	Het
Cpt1b	T	A	15: 89,308,596 (GRCm39)	I111F	possibly damaging	Het
Cyp4f16	T	A	17: 32,756,061 (GRCm39)	I30N	probably damaging	Het
Ddc	T	G	11: 11,830,587 (GRCm39)	D19A	possibly damaging	Het
Depdc1a	T	A	3: 159,222,537 (GRCm39)		probably null	Het
Evc2	T	A	5: 37,574,828 (GRCm39)	C1028S	possibly damaging	Het
Fam228a	T	C	12: 4,781,457 (GRCm39)	E134G	probably damaging	Het
Fasl	T	C	1: 161,615,523 (GRCm39)	E111G	probably benign	Het
Fbxw10	A	G	11: 62,767,564 (GRCm39)	N800S	possibly damaging	Het
Fras1	T	C	5: 96,910,524 (GRCm39)	S3318P	probably damaging	Het
G3bp1	T	C	11: 55,389,452 (GRCm39)	F383L	probably damaging	Het
Gad1	T	A	2: 70,409,545 (GRCm39)	M212K	probably damaging	Het
Gm17455	T	G	10: 60,238,752 (GRCm39)	S6A	probably benign	Het
Grm5	T	C	7: 87,779,997 (GRCm39)	S1146P	probably damaging	Het
Gsn	T	C	2: 35,194,651 (GRCm39)	L649P	probably damaging	Het
H2-DMb1	A	G	17: 34,374,685 (GRCm39)	T112A	probably benign	Het
Hcn3	T	A	3: 89,060,201 (GRCm39)	I148F	probably damaging	Het
Hdac10	T	C	15: 89,009,961 (GRCm39)		probably null	Het
Hk3	C	A	13: 55,156,518 (GRCm39)	D619Y	probably damaging	Het
Ifi44	T	A	3: 151,451,134 (GRCm39)	R272S	possibly damaging	Het
Il1rap	A	C	16: 26,517,625 (GRCm39)	D275A	probably damaging	Het
Irag2	A	G	6: 145,113,710 (GRCm39)	R293G	possibly damaging	Het
Itgam	A	T	7: 127,707,152 (GRCm39)	N660I	probably benign	Het
Itpr3	T	C	17: 27,332,793 (GRCm39)	M1853T	probably benign	Het
Lrrc8c	A	C	5: 105,754,965 (GRCm39)	K247Q	probably damaging	Het
Map3k21	T	C	8: 126,668,858 (GRCm39)	S815P	probably benign	Het
Mast4	A	G	13: 102,888,068 (GRCm39)	S1114P	probably damaging	Het
Myh8	C	T	11: 67,194,591 (GRCm39)	Q1601*	probably null	Het
Nhlrc2	A	G	19: 56,558,959 (GRCm39)	D148G	probably damaging	Het
Nos1	T	A	5: 118,081,385 (GRCm39)	S1196T	probably benign	Het
Nsmaf	C	T	4: 6,424,874 (GRCm39)		probably null	Het
Obscn	T	C	11: 58,890,449 (GRCm39)	D7361G	unknown	Het
Or2t35	T	C	14: 14,407,777 (GRCm38)	V183A	probably damaging	Het
Or52ad1	C	A	7: 102,996,085 (GRCm39)	A17S	probably benign	Het
Or5bw2	C	T	7: 6,573,359 (GRCm39)	A123V	probably damaging	Het
Pank3	T	G	11: 35,668,536 (GRCm39)	M175R	probably benign	Het
Papolg	A	G	11: 23,829,868 (GRCm39)		probably null	Het
Pcdhb21	G	A	18: 37,647,566 (GRCm39)	D232N	probably damaging	Het
Pcdhb22	T	C	18: 37,651,925 (GRCm39)	F131S	probably damaging	Het
Pik3r6	G	A	11: 68,419,608 (GRCm39)	A140T	possibly damaging	Het
Pinlyp	T	C	7: 24,241,947 (GRCm39)	T87A	possibly damaging	Het
Pld1	T	C	3: 28,178,724 (GRCm39)	S873P	probably damaging	Het
Pld5	T	A	1: 176,102,295 (GRCm39)	Y49F	probably benign	Het
Polq	T	C	16: 36,855,252 (GRCm39)	V449A	probably damaging	Het
Prkca	A	G	11: 107,869,106 (GRCm39)	V69A	probably benign	Het
Ptk6	A	G	2: 180,844,075 (GRCm39)	S75P	possibly damaging	Het
Ptprq	G	A	10: 107,418,391 (GRCm39)	Q1662*	probably null	Het
Ptprt	C	A	2: 161,395,742 (GRCm39)	A1144S	probably damaging	Het
Rrm1	T	A	7: 102,116,133 (GRCm39)	W684R	probably damaging	Het
Ryr1	T	A	7: 28,735,500 (GRCm39)	M4093L	probably damaging	Het
Scnn1a	C	T	6: 125,299,189 (GRCm39)	L90F	probably damaging	Het
Slc25a19	G	T	11: 115,508,423 (GRCm39)	Y188*	probably null	Het
Slc31a1	C	T	4: 62,303,866 (GRCm39)		probably benign	Het
Slc5a11	C	G	7: 122,864,458 (GRCm39)	S351R	possibly damaging	Het
Slc6a17	A	G	3: 107,384,183 (GRCm39)	L387P	probably benign	Het
Slitrk6	A	T	14: 110,987,364 (GRCm39)	L781H	probably damaging	Het
Spam1	T	A	6: 24,797,837 (GRCm39)	L331Q	probably damaging	Het
Spata32	A	G	11: 103,100,125 (GRCm39)	W127R	probably damaging	Het
Spring1	A	G	5: 118,393,886 (GRCm39)	E88G	possibly damaging	Het
Spta1	T	G	1: 174,041,508 (GRCm39)	I1324S	probably damaging	Het
St6galnac4	A	G	2: 32,484,330 (GRCm39)	Y176C	probably damaging	Het
Stk10	A	G	11: 32,546,724 (GRCm39)	E327G	probably damaging	Het
Stxbp5l	T	A	16: 36,954,646 (GRCm39)	Y912F	possibly damaging	Het
Tchp	G	A	5: 114,858,243 (GRCm39)	E459K	probably benign	Het
Thoc2l	T	G	5: 104,666,077 (GRCm39)	S200A	probably benign	Het
Thrsp	T	C	7: 97,066,634 (GRCm39)	N26S	probably damaging	Het
Tln1	C	A	4: 43,553,504 (GRCm39)	R297L	probably benign	Het
Tmeff2	C	A	1: 50,967,234 (GRCm39)	T43N	possibly damaging	Het
Tmx1	C	T	12: 70,499,947 (GRCm39)	A2V	possibly damaging	Het
Tnks1bp1	T	A	2: 84,902,481 (GRCm39)	L1053Q	probably damaging	Het
Trmt10b	A	T	4: 45,304,286 (GRCm39)	K107N	probably damaging	Het
Trpa1	A	T	1: 14,955,972 (GRCm39)		probably null	Het
Trrap	A	G	5: 144,783,287 (GRCm39)	K3371R	probably damaging	Het
Tuba3b	G	A	6: 145,563,995 (GRCm39)	V14I	probably benign	Het
Usp19	T	C	9: 108,371,439 (GRCm39)		probably null	Het
Usp28	C	A	9: 48,950,401 (GRCm39)	D615E	possibly damaging	Het
Utp20	T	C	10: 88,657,931 (GRCm39)	D43G	probably benign	Het
Vmn1r58	T	G	7: 5,413,997 (GRCm39)	K78Q	possibly damaging	Het
Vmn2r10	T	C	5: 109,151,327 (GRCm39)	M96V	probably benign	Het
Wdr90	T	C	17: 26,079,023 (GRCm39)	E273G	probably damaging	Het
Xpc	C	T	6: 91,468,208 (GRCm39)	A860T	probably benign	Het
Zscan21	T	C	5: 138,131,865 (GRCm39)	I463T	possibly damaging	Het

Other mutations in Terf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02823:Terf2	APN	8	107,799,257 (GRCm39)	missense	possibly damaging	0.89
IGL02879:Terf2	APN	8	107,803,329 (GRCm39)	missense	probably benign	0.02
IGL03368:Terf2	APN	8	107,797,181 (GRCm39)	missense	probably damaging	1.00
PIT1430001:Terf2	UTSW	8	107,822,934 (GRCm39)	missense	probably damaging	0.98
R0615:Terf2	UTSW	8	107,809,622 (GRCm39)	missense	possibly damaging	0.90
R1983:Terf2	UTSW	8	107,809,640 (GRCm39)	missense	probably damaging	0.99
R3051:Terf2	UTSW	8	107,806,016 (GRCm39)	missense	possibly damaging	0.88
R3053:Terf2	UTSW	8	107,806,016 (GRCm39)	missense	possibly damaging	0.88
R4210:Terf2	UTSW	8	107,806,080 (GRCm39)	missense	probably damaging	1.00
R4782:Terf2	UTSW	8	107,803,307 (GRCm39)	missense	probably benign	0.00
R4799:Terf2	UTSW	8	107,803,307 (GRCm39)	missense	probably benign	0.00
R4994:Terf2	UTSW	8	107,803,110 (GRCm39)	intron	probably benign
R6414:Terf2	UTSW	8	107,803,486 (GRCm39)	missense	probably benign	0.01
R6777:Terf2	UTSW	8	107,797,169 (GRCm39)	missense	possibly damaging	0.95
R7315:Terf2	UTSW	8	107,807,849 (GRCm39)	missense	probably benign	0.03
R7481:Terf2	UTSW	8	107,799,353 (GRCm39)	critical splice donor site	probably null
R8165:Terf2	UTSW	8	107,809,656 (GRCm39)	missense	possibly damaging	0.83
R8396:Terf2	UTSW	8	107,809,613 (GRCm39)	critical splice donor site	probably null
R9438:Terf2	UTSW	8	107,803,504 (GRCm39)	missense	probably benign	0.45
R9688:Terf2	UTSW	8	107,821,543 (GRCm39)	missense	probably damaging	1.00
T0722:Terf2	UTSW	8	107,803,306 (GRCm39)	missense	probably benign
Z1088:Terf2	UTSW	8	107,807,855 (GRCm39)	missense	probably damaging	1.00
Z1177:Terf2	UTSW	8	107,822,927 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TGCGCGACAGACACTGCATAAC -3'
(R):5'- TTGCAGCAGACACAAGAGGAACTAC -3'

Sequencing Primer
(F):5'- GGGACACCGTATGCTCCTTC -3'
(R):5'- GGAAACGGCCCAGTCgg -3'

Posted On

2013-05-23