Mutagenetix > Incidental Mutation

Incidental Mutation 'R4210:Terf2'

319132

Institutional Source

Beutler Lab

Gene Symbol

Terf2

Ensembl Gene

ENSMUSG00000031921

Gene Name

telomeric repeat binding factor 2

Synonyms

TRF2

MMRRC Submission

041039-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4210 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

107796032-107823179 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 107806080 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 291 (S291P)

Ref Sequence

ENSEMBL: ENSMUSP00000118759 (fasta)

Gene Model

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

AlphaFold

O35144

Predicted Effect

probably damaging
Transcript: ENSMUST00000068388
AA Change: S291P

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000065586
Gene: ENSMUSG00000031921
AA Change: S291P

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 damaging
Transcript: ENSMUST00000068421
AA Change: S291P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000068948
Gene: ENSMUSG00000031921
AA Change: S291P

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 damaging
Transcript: ENSMUST00000116425
AA Change: S291P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000112126
Gene: ENSMUSG00000031921
AA Change: S291P

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 damaging
Transcript: ENSMUST00000133925
AA Change: S291P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000118759
Gene: ENSMUSG00000031921
AA Change: S291P

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 95.0%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	C	T	2: 68,490,222 (GRCm39)		probably benign	Het
Abl1	T	C	2: 31,691,708 (GRCm39)	Y1076H	probably damaging	Het
Adamts7	C	T	9: 90,076,063 (GRCm39)	T1265I	possibly damaging	Het
Adgb	T	C	10: 10,283,209 (GRCm39)	I166V	probably benign	Het
Axin2	T	A	11: 108,833,402 (GRCm39)	I529N	possibly damaging	Het
Bbof1	T	C	12: 84,455,957 (GRCm39)	M1T	probably null	Het
Clcc1	A	T	3: 108,570,907 (GRCm39)	Y105F	possibly damaging	Het
Cmpk2	G	T	12: 26,519,570 (GRCm39)	A74S	probably benign	Het
Colgalt1	G	A	8: 72,075,350 (GRCm39)	V419I	probably benign	Het
Crybg3	A	G	16: 59,364,414 (GRCm39)	S2403P	probably damaging	Het
D930048N14Rik	G	A	11: 51,545,632 (GRCm39)		probably benign	Het
Dnah7b	T	A	1: 46,176,578 (GRCm39)	C733S	possibly damaging	Het
Drc1	G	A	5: 30,504,490 (GRCm39)	V211M	possibly damaging	Het
Ephx2	T	C	14: 66,322,393 (GRCm39)	T525A	probably damaging	Het
Eya4	A	G	10: 23,102,698 (GRCm39)		probably null	Het
Foxc1	T	C	13: 31,991,690 (GRCm39)	F167S	probably damaging	Het
Fsip2	C	T	2: 82,805,493 (GRCm39)	T604I	probably damaging	Het
Gm6370	C	A	5: 146,430,734 (GRCm39)	F306L	possibly damaging	Het
Hmgcr	A	G	13: 96,796,729 (GRCm39)	V187A	probably damaging	Het
Igkv9-129	T	A	6: 67,817,242 (GRCm39)	S114R	possibly damaging	Het
Ikbke	T	A	1: 131,191,085 (GRCm39)	I519F	probably damaging	Het
Ikzf3	T	C	11: 98,381,313 (GRCm39)	Y89C	probably benign	Het
Inpp5j	T	G	11: 3,451,107 (GRCm39)	H514P	probably damaging	Het
Iqsec3	T	C	6: 121,389,999 (GRCm39)		probably benign	Het
Itga3	C	A	11: 94,953,449 (GRCm39)	V298L	probably benign	Het
Kel	C	T	6: 41,675,359 (GRCm39)	W297*	probably null	Het
Larp7	T	A	3: 127,340,603 (GRCm39)	R112S	probably benign	Het
Lbh	T	A	17: 73,228,178 (GRCm39)		probably null	Het
Lrba	G	A	3: 86,267,433 (GRCm39)	G1708S	probably damaging	Het
Lrig2	C	T	3: 104,374,620 (GRCm39)	V154I	probably benign	Het
Man1c1	G	C	4: 134,430,749 (GRCm39)	P11R	probably damaging	Het
Mast4	A	T	13: 102,875,713 (GRCm39)	F1318L	probably damaging	Het
Ncam2	T	C	16: 81,323,991 (GRCm39)	V545A	probably benign	Het
Numa1	T	G	7: 101,658,945 (GRCm39)	L356R	probably damaging	Het
Or2w1	A	T	13: 21,317,607 (GRCm39)	I221L	possibly damaging	Het
Or6n2	G	A	1: 173,897,574 (GRCm39)	A237T	probably damaging	Het
Pcgf5	C	A	19: 36,414,740 (GRCm39)	N26K	possibly damaging	Het
Pdlim4	T	G	11: 53,946,744 (GRCm39)	D181A	possibly damaging	Het
Phtf1	G	A	3: 103,910,919 (GRCm39)		probably null	Het
Pik3r4	G	A	9: 105,527,957 (GRCm39)	A437T	possibly damaging	Het
Proser3	G	A	7: 30,245,525 (GRCm39)		probably benign	Het
Rax	T	A	18: 66,068,152 (GRCm39)	N318Y	unknown	Het
Rnf152	A	G	1: 105,212,077 (GRCm39)	V160A	probably benign	Het
Serpina3a	A	T	12: 104,084,902 (GRCm39)	D99V	probably benign	Het
Sidt2	T	C	9: 45,854,073 (GRCm39)	T652A	probably benign	Het
Slc12a7	A	G	13: 73,962,962 (GRCm39)	Y1054C	probably damaging	Het
Slc9a5	A	G	8: 106,085,103 (GRCm39)	N535D	possibly damaging	Het
Sspo	C	A	6: 48,441,835 (GRCm39)	H1948Q	probably benign	Het
Stap2	G	T	17: 56,304,827 (GRCm39)	Y318*	probably null	Het
Sytl1	T	C	4: 132,980,876 (GRCm39)	D421G	probably damaging	Het
Taar7e	A	T	10: 23,913,932 (GRCm39)	I141F	probably damaging	Het
Taar7f	T	A	10: 23,925,921 (GRCm39)	W172R	probably damaging	Het
Tcn2	T	C	11: 3,872,114 (GRCm39)	K338E	possibly damaging	Het
Tenm3	C	T	8: 48,802,439 (GRCm39)	G374D	probably damaging	Het
Tex16	T	A	X: 111,030,640 (GRCm39)	D1046E	probably benign	Het
Tmod4	A	G	3: 95,035,140 (GRCm39)	D215G	probably benign	Het
Tnxb	T	C	17: 34,929,951 (GRCm39)	I2895T	possibly damaging	Het
Tsbp1	G	T	17: 34,679,257 (GRCm39)		probably benign	Het
Urgcp	C	A	11: 5,665,878 (GRCm39)	G820V	probably damaging	Het
Uxs1	T	A	1: 43,789,398 (GRCm39)	H419L	possibly damaging	Het
Vmn1r152	A	T	7: 22,223,004 (GRCm39)	T205S	possibly damaging	Het
Vmn1r79	A	G	7: 11,910,415 (GRCm39)	Y99C	possibly damaging	Het
Zc3h14	A	G	12: 98,751,658 (GRCm39)	H199R	probably damaging	Het
Zfand2b	A	T	1: 75,146,454 (GRCm39)	M110L	probably benign	Het
Zfp976	A	G	7: 42,265,749 (GRCm39)	F12S	probably 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
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
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'- AAGTTCTCTGCCTCTCAAAGTG -3'
(R):5'- CTGCCTAGAGCTTACTGTGTAG -3'

Sequencing Primer
(F):5'- GTGTGATATGCCAACAACCTG -3'
(R):5'- CAGAACTGAATGCTGAGACCTTGTC -3'

Posted On

2015-06-10