Mutagenetix > Incidental Mutation

Incidental Mutation 'R1983:Terf2'

220157

Institutional Source

Beutler Lab

Gene Symbol

Terf2

Ensembl Gene

ENSMUSG00000031921

Gene Name

telomeric repeat binding factor 2

Synonyms

TRF2

MMRRC Submission

039995-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1983 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

107796032-107823179 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 107809640 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 226 (Y226C)

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: Y226C

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000065586
Gene: ENSMUSG00000031921
AA Change: Y226C

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

possibly damaging
Transcript: ENSMUST00000068421
AA Change: Y226C

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000068948
Gene: ENSMUSG00000031921
AA Change: Y226C

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

possibly damaging
Transcript: ENSMUST00000116425
AA Change: Y226C

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000112126
Gene: ENSMUSG00000031921
AA Change: Y226C

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: Y226C

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000118759
Gene: ENSMUSG00000031921
AA Change: Y226C

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

unknown
Transcript: ENSMUST00000142616
AA Change: Y119C

SMART Domains

Protein: ENSMUSP00000118589
Gene: ENSMUSG00000031921
AA Change: Y119C

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: 97.0%
20x: 94.7%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012H06Rik	T	A	17: 15,164,272 (GRCm39)	V133E	probably damaging	Het
Aco1	G	A	4: 40,175,845 (GRCm39)	G160S	probably benign	Het
Actn2	C	T	13: 12,293,696 (GRCm39)	R608H	probably benign	Het
Adora2a	A	C	10: 75,169,480 (GRCm39)	S315R	probably benign	Het
Arhgap42	T	C	9: 9,017,018 (GRCm39)	Y382C	probably damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Atg4c	A	G	4: 99,116,812 (GRCm39)	Y318C	probably damaging	Het
Baz2a	C	T	10: 127,959,828 (GRCm39)	T1408I	probably benign	Het
Bbx	T	A	16: 50,029,480 (GRCm39)	Q663L	possibly damaging	Het
Bltp1	A	G	3: 36,942,014 (GRCm39)	D273G	probably null	Het
Btbd3	T	G	2: 138,125,608 (GRCm39)	L264R	probably damaging	Het
Cfi	T	C	3: 129,662,194 (GRCm39)	I391T	probably damaging	Het
Chadl	T	C	15: 81,578,097 (GRCm39)	I45V	probably benign	Het
Chd5	C	A	4: 152,469,123 (GRCm39)	A1853D	possibly damaging	Het
Cmas	G	T	6: 142,716,312 (GRCm39)	D251Y	probably damaging	Het
Cyp2d10	A	G	15: 82,290,200 (GRCm39)	M90T	probably benign	Het
D630003M21Rik	A	G	2: 158,050,341 (GRCm39)	F714L	probably benign	Het
Dguok	A	T	6: 83,464,110 (GRCm39)	Y126*	probably null	Het
Dnai1	A	G	4: 41,603,232 (GRCm39)	K172E	probably benign	Het
Dnai2	T	A	11: 114,626,682 (GRCm39)		probably null	Het
Efcab6	A	T	15: 83,777,163 (GRCm39)		probably benign	Het
Eln	A	T	5: 134,765,194 (GRCm39)		probably null	Het
Epor	T	C	9: 21,870,696 (GRCm39)	T395A	probably benign	Het
Evc2	G	T	5: 37,573,275 (GRCm39)	E996*	probably null	Het
Fam124b	T	A	1: 80,191,364 (GRCm39)	E6D	probably benign	Het
Filip1	T	A	9: 79,767,374 (GRCm39)	K146N	probably damaging	Het
Filip1l	T	C	16: 57,391,637 (GRCm39)	S742P	probably damaging	Het
Fsip2	G	T	2: 82,810,175 (GRCm39)	V2165L	probably benign	Het
Gcdh	A	T	8: 85,617,539 (GRCm39)	V227E	possibly damaging	Het
Gm12185	T	C	11: 48,806,183 (GRCm39)	N336S	probably benign	Het
Gm12695	G	T	4: 96,627,214 (GRCm39)	A399E	possibly damaging	Het
Gm16503	T	A	4: 147,625,749 (GRCm39)	V81E	unknown	Het
Gpr137c	T	C	14: 45,517,428 (GRCm39)	V388A	probably benign	Het
Hgf	A	G	5: 16,766,010 (GRCm39)	T49A	possibly damaging	Het
Hspa1a	G	T	17: 35,189,938 (GRCm39)	R322S	probably benign	Het
Jak3	A	T	8: 72,131,019 (GRCm39)	Q13L	possibly damaging	Het
Jak3	A	G	8: 72,140,780 (GRCm39)	R1098G	probably benign	Het
Kif11	C	T	19: 37,379,224 (GRCm39)	T305I	possibly damaging	Het
Lcor	T	A	19: 41,546,806 (GRCm39)	V130E	probably damaging	Het
Lmo2	T	C	2: 103,811,407 (GRCm39)	Y147H	probably damaging	Het
Lrp1b	C	T	2: 41,401,416 (GRCm39)		probably null	Het
Mdga1	G	A	17: 30,069,579 (GRCm39)	R430C	probably damaging	Het
Mfsd12	T	A	10: 81,198,090 (GRCm39)		probably null	Het
Mmp27	T	A	9: 7,578,898 (GRCm39)		probably null	Het
Mtnr1a	A	T	8: 45,540,471 (GRCm39)	N144I	probably benign	Het
Mycbp2	T	C	14: 103,383,407 (GRCm39)	T3563A	probably damaging	Het
Myef2	T	A	2: 124,940,765 (GRCm39)	M355L	probably benign	Het
Or4a39	A	G	2: 89,236,770 (GRCm39)	F218L	probably benign	Het
Or5b104	A	G	19: 13,072,748 (GRCm39)	I88T	probably benign	Het
Or5p51	C	T	7: 107,444,619 (GRCm39)	G107D	probably benign	Het
Or8k27	T	A	2: 86,275,420 (GRCm39)	H302L	probably benign	Het
Parg	A	G	14: 31,939,653 (GRCm39)	K560E	probably damaging	Het
Pck2	G	A	14: 55,781,525 (GRCm39)		probably null	Het
Pdcd6	T	C	13: 74,452,119 (GRCm39)	I174V	probably benign	Het
Pomgnt1	T	C	4: 116,009,066 (GRCm39)	L57S	probably damaging	Het
Pomgnt1	C	A	4: 116,009,117 (GRCm39)	P74Q	probably benign	Het
Prdm4	T	C	10: 85,743,817 (GRCm39)	Y146C	probably damaging	Het
Prl2c2	G	C	13: 13,176,786 (GRCm39)	T47R	probably damaging	Het
Prune2	A	G	19: 16,998,006 (GRCm39)	M248V	probably damaging	Het
Ric8b	T	A	10: 84,837,702 (GRCm39)	M503K	probably damaging	Het
Ror2	C	T	13: 53,264,444 (GRCm39)	V871M	probably benign	Het
Ryr1	T	C	7: 28,758,897 (GRCm39)	N3427S	possibly damaging	Het
Ryr2	A	G	13: 11,600,288 (GRCm39)		probably null	Het
Scimp	C	T	11: 70,691,540 (GRCm39)	V30I	probably damaging	Het
Skint4	A	G	4: 112,003,689 (GRCm39)	E374G	probably benign	Het
Slc6a20a	A	G	9: 123,469,652 (GRCm39)	Y482H	probably damaging	Het
Slitrk5	A	G	14: 111,917,821 (GRCm39)	S482G	probably benign	Het
Spopfm2	T	G	3: 94,083,601 (GRCm39)	D70A	possibly damaging	Het
Strc	T	A	2: 121,201,518 (GRCm39)	M1229L	possibly damaging	Het
Tasor2	G	T	13: 3,624,853 (GRCm39)	T1699K	possibly damaging	Het
Tex10	A	T	4: 48,460,059 (GRCm39)	L431I	possibly damaging	Het
Tnc	A	G	4: 63,902,867 (GRCm39)	V1470A	possibly damaging	Het
Ttll13	T	C	7: 79,903,364 (GRCm39)	I248T	possibly damaging	Het
Ttn	T	C	2: 76,619,369 (GRCm39)	N16031S	possibly damaging	Het
Ttn	T	A	2: 76,587,104 (GRCm39)	K21631M	probably damaging	Het
Uroc1	A	T	6: 90,322,351 (GRCm39)	S292C	probably damaging	Het
Vmn1r80	A	T	7: 11,927,588 (GRCm39)	M233L	probably benign	Het
Wdr31	A	T	4: 62,378,840 (GRCm39)	M129K	probably damaging	Het
Wnk1	A	T	6: 119,914,539 (GRCm39)	N1754K	probably damaging	Het
Xirp1	G	A	9: 119,845,695 (GRCm39)	Q1063*	probably null	Het
Zfp799	C	A	17: 33,041,084 (GRCm39)	V32L	probably damaging	Het
Zfyve9	A	T	4: 108,546,386 (GRCm39)	D874E	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
R0454:Terf2	UTSW	8	107,822,842 (GRCm39)	nonsense	probably null
R0615:Terf2	UTSW	8	107,809,622 (GRCm39)	missense	possibly damaging	0.90
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'- TGCTGGGTATTTAAAGGTGACTAC -3'
(R):5'- ACAGTGTGAAGACAGTCATAGC -3'

Sequencing Primer
(F):5'- TGGACCGCACTATGTAGACCAG -3'
(R):5'- AATGTTTCTGCAGAGTGTGT -3'

Posted On

2014-08-25