Mutagenetix > Incidental Mutation

Incidental Mutation 'R7315:Terf2'

567886

Institutional Source

Beutler Lab

Gene Symbol

Terf2

Ensembl Gene

ENSMUSG00000031921

Gene Name

telomeric repeat binding factor 2

Synonyms

TRF2

MMRRC Submission

045368-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7315 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

107796032-107823179 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 107807849 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 242 (N242S)

Ref Sequence

ENSEMBL: ENSMUSP00000118759 (fasta)

Gene Model

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

AlphaFold

O35144

Predicted Effect

probably benign
Transcript: ENSMUST00000068388
AA Change: N242S

PolyPhen 2 Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000065586
Gene: ENSMUSG00000031921
AA Change: N242S

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: N242S

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000068948
Gene: ENSMUSG00000031921
AA Change: N242S

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: N242S

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000112126
Gene: ENSMUSG00000031921
AA Change: N242S

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: N242S

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000118759
Gene: ENSMUSG00000031921
AA Change: N242S

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

SMART Domains

Protein: ENSMUSP00000118589
Gene: ENSMUSG00000031921
AA Change: N135S

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	C	7: 119,893,341 (GRCm39)	I1264L	probably benign	Het
Abcg8	C	A	17: 85,004,142 (GRCm39)	D484E	probably damaging	Het
Abhd13	T	A	8: 10,037,970 (GRCm39)	L189H	probably damaging	Het
Acox2	T	C	14: 8,256,139 (GRCm38)	D60G	probably damaging	Het
Acp3	A	G	9: 104,193,423 (GRCm39)		probably null	Het
Agpat4	C	T	17: 12,429,185 (GRCm39)	R146C	probably damaging	Het
Antxrl	T	C	14: 33,793,504 (GRCm39)	S411P	unknown	Het
B4galt5	A	G	2: 167,143,296 (GRCm39)	V376A	probably damaging	Het
Camk1d	T	C	2: 5,344,041 (GRCm39)	Y198C	probably damaging	Het
Cd1d1	C	T	3: 86,905,420 (GRCm39)	R191H	possibly damaging	Het
Cd93	A	G	2: 148,284,461 (GRCm39)	V295A	probably damaging	Het
Cdc27	G	A	11: 104,406,270 (GRCm39)	T615I	possibly damaging	Het
Cfap74	T	C	4: 155,547,476 (GRCm39)	Y1221H	unknown	Het
Col24a1	G	A	3: 145,137,625 (GRCm39)	S896N	possibly damaging	Het
Crppa	A	G	12: 36,440,373 (GRCm39)	T94A	probably benign	Het
Cst7	C	A	2: 150,412,503 (GRCm39)	P22Q	probably benign	Het
Dnah6	C	T	6: 73,061,743 (GRCm39)	A2781T	probably damaging	Het
Dscaml1	G	A	9: 45,656,423 (GRCm39)	A1588T	probably benign	Het
Dsg2	A	T	18: 20,712,217 (GRCm39)	I118F	probably damaging	Het
Eif1ad2	A	G	12: 87,786,473 (GRCm39)	E128G	unknown	Het
Eme2	G	A	17: 25,113,840 (GRCm39)	R62W	probably damaging	Het
Epha3	A	T	16: 63,372,972 (GRCm39)	D910E	probably benign	Het
Ext1	T	C	15: 52,936,783 (GRCm39)	D654G	probably damaging	Het
Fnip2	A	G	3: 79,413,512 (GRCm39)		probably null	Het
Gon4l	T	A	3: 88,802,486 (GRCm39)	H1032Q	probably benign	Het
Kitl	G	A	10: 99,851,974 (GRCm39)	R31H	unknown	Het
Lcp2	G	A	11: 34,019,906 (GRCm39)		probably null	Het
Lrp2	T	C	2: 69,322,166 (GRCm39)	H1921R	probably damaging	Het
Lvrn	A	G	18: 47,010,051 (GRCm39)	T400A	probably benign	Het
Mak16	G	A	8: 31,654,766 (GRCm39)	R143*	probably null	Het
Mettl23	A	G	11: 116,739,928 (GRCm39)	I159V	probably benign	Het
Mr1	T	C	1: 155,005,036 (GRCm39)	N335D	probably benign	Het
Muc2	T	C	7: 141,276,645 (GRCm39)	C12R	probably damaging	Het
Myom1	T	C	17: 71,387,892 (GRCm39)		probably null	Het
Nav2	A	G	7: 49,198,037 (GRCm39)	N33S	possibly damaging	Het
Ninl	A	G	2: 150,791,970 (GRCm39)	V851A	probably benign	Het
Nmt1	A	G	11: 102,951,009 (GRCm39)	N367D	probably benign	Het
Noc2l	T	G	4: 156,325,817 (GRCm39)	S354R	probably damaging	Het
Opn1sw	A	T	6: 29,379,362 (GRCm39)	I214N	probably damaging	Het
Or12d14-ps1	G	T	17: 37,673,551 (GRCm39)	C181F	probably damaging	Het
Or13e8	T	A	4: 43,696,961 (GRCm39)	I71F	probably damaging	Het
Or14c40	T	C	7: 86,313,445 (GRCm39)	S192P	probably damaging	Het
Or4k52	T	C	2: 111,611,004 (GRCm39)	V113A	probably damaging	Het
Or5ac16	A	G	16: 59,022,496 (GRCm39)	F98L	probably benign	Het
Or7e169	G	T	9: 19,757,131 (GRCm39)	S261R	probably damaging	Het
Or8a1	T	C	9: 37,641,872 (GRCm39)	M136V	probably benign	Het
Or8b9	A	T	9: 37,766,543 (GRCm39)	Y143F	probably benign	Het
Papss2	T	C	19: 32,616,625 (GRCm39)	V217A	possibly damaging	Het
Pes1	A	G	11: 3,926,085 (GRCm39)	I291M	probably benign	Het
Ptprb	T	A	10: 116,198,284 (GRCm39)	I1660N	possibly damaging	Het
Rapgef1	C	A	2: 29,624,504 (GRCm39)	T1030K	probably damaging	Het
Rassf8	A	G	6: 145,761,477 (GRCm39)	M268V	probably benign	Het
Rbl2	A	T	8: 91,802,640 (GRCm39)	T154S	probably damaging	Het
Rgs1	A	G	1: 144,124,637 (GRCm39)		probably null	Het
Rpgrip1	C	T	14: 52,358,458 (GRCm39)	T188I	not run	Het
Rrp1b	T	A	17: 32,277,545 (GRCm39)	F608L	probably benign	Het
Sbp	C	T	17: 24,164,280 (GRCm39)	A154V	probably benign	Het
Scara3	C	T	14: 66,168,889 (GRCm39)	E243K	probably damaging	Het
Serpinb6b	A	T	13: 33,156,240 (GRCm39)	D110V	probably benign	Het
Skic2	T	A	17: 35,060,145 (GRCm39)	D875V	probably benign	Het
Slc2a4	G	C	11: 69,837,259 (GRCm39)	T59R	probably damaging	Het
Slc4a1	A	G	11: 102,247,310 (GRCm39)	S462P	probably damaging	Het
Slc66a1	G	A	4: 139,029,181 (GRCm39)	T101M	probably damaging	Het
Snx33	C	T	9: 56,833,151 (GRCm39)	R306H	probably damaging	Het
Srf	T	C	17: 46,862,720 (GRCm39)		probably null	Het
Steap3	A	G	1: 120,155,642 (GRCm39)	V439A	probably benign	Het
Syt10	C	T	15: 89,698,541 (GRCm39)	D268N	probably damaging	Het
Tent5b	C	T	4: 133,214,395 (GRCm39)	T422I	probably damaging	Het
Tex15	A	G	8: 34,071,544 (GRCm39)	T2364A	probably benign	Het
Tgfbr2	A	T	9: 115,938,806 (GRCm39)	H365Q	possibly damaging	Het
Tnrc6c	T	G	11: 117,614,354 (GRCm39)	N837K	probably benign	Het
Trim67	T	A	8: 125,521,069 (GRCm39)	S144T	probably benign	Het
Zc3hav1l	T	G	6: 38,272,082 (GRCm39)	D229A	possibly damaging	Het
Zmym4	A	T	4: 126,776,385 (GRCm39)	V1184E	probably benign	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
R0454:Terf2	UTSW	8	107,822,842 (GRCm39)	nonsense	probably null
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
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'- CGTGATATACCCCAGTCTCTG -3'
(R):5'- TAACCCAGTATGGCCGAACC -3'

Sequencing Primer
(F):5'- TCATGCTTAAGGACCCAAACATGG -3'
(R):5'- TGGCCGAACCATGGCTAATC -3'

Posted On

2019-06-26