Mutagenetix > Incidental Mutation

Incidental Mutation 'R5310:Terf1'

404753

Institutional Source

Beutler Lab

Gene Symbol

Terf1

Ensembl Gene

ENSMUSG00000025925

Gene Name

telomeric repeat binding factor 1

Synonyms

Pin2, Trbf1, Trf1

MMRRC Submission

042893-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5310 (G1)

Quality Score

188

Status

Validated

Chromosome

Chromosomal Location

15875870-15914276 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 15875909 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 3 (E3V)

Ref Sequence

ENSEMBL: ENSMUSP00000140744 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027057] [ENSMUST00000188371]

AlphaFold

P70371

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027057
AA Change: E3V

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000027057
Gene: ENSMUSG00000025925
AA Change: E3V

Domain	Start	End	E-Value	Type
Pfam:TRF	61	257	2.3e-28	PFAM
SANT	366	417	1.9e-15	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186565

Predicted Effect

probably damaging
Transcript: ENSMUST00000188371
AA Change: E3V

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000140744
Gene: ENSMUSG00000025925
AA Change: E3V

Domain	Start	End	E-Value	Type
Pfam:TRF	61	258	3e-30	PFAM
SANT	366	417	1.9e-15	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188684

Meta Mutation Damage Score

0.0913

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.9%
20x: 96.7%

Validation Efficiency

100% (74/74)

MGI Phenotype

FUNCTION: This gene encodes a protein that binds to repeats in telomeres to form a nucleoprotein complex that protects against the degradation of chromosomal ends. The encoded protein regulates the length of telomeres and is an integral structural component of the functional telomere. This protein is thought to play a role in spindle formation in mitosis. Mutations in this gene are associated with bone marrow failure. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2013]
PHENOTYPE: Mice homozygous for disruptions in this gene display embryonic lethality and die sometime before E7.5 [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	A	T	7: 119,931,839 (GRCm39)	I31L	possibly damaging	Het
Abca17	T	C	17: 24,500,204 (GRCm39)	K1329R	probably benign	Het
Acap2	A	G	16: 30,952,427 (GRCm39)	Y197H	probably benign	Het
Adgrv1	A	G	13: 81,624,809 (GRCm39)	V3720A	possibly damaging	Het
Alms1	T	A	6: 85,592,350 (GRCm39)	S870T	possibly damaging	Het
Anapc4	A	G	5: 53,016,501 (GRCm39)	E493G	probably benign	Het
Ap2a1	A	G	7: 44,555,489 (GRCm39)		probably null	Het
Arhgef38	A	G	3: 132,822,227 (GRCm39)	L179P	probably damaging	Het
Bicral	T	C	17: 47,124,909 (GRCm39)	D630G	possibly damaging	Het
Ccdc97	A	T	7: 25,415,201 (GRCm39)	L154Q	probably damaging	Het
Cd40	T	C	2: 164,905,483 (GRCm39)		probably null	Het
Celsr1	T	A	15: 85,810,423 (GRCm39)	N2155I	possibly damaging	Het
Cemip	A	T	7: 83,641,241 (GRCm39)	L261H	probably damaging	Het
Cep57	G	A	9: 13,730,164 (GRCm39)	H98Y	probably damaging	Het
Chrna7	A	T	7: 62,755,805 (GRCm39)	L247Q	probably damaging	Het
Cyp2c40	T	A	19: 39,766,474 (GRCm39)	M374L	probably damaging	Het
Cyp4f13	T	C	17: 33,144,795 (GRCm39)	D372G	probably damaging	Het
Dazl	C	A	17: 50,588,311 (GRCm39)	S288I	probably damaging	Het
Dnah5	T	C	15: 28,311,474 (GRCm39)	F1818L	probably damaging	Het
Echdc1	T	C	10: 29,210,204 (GRCm39)	V143A	possibly damaging	Het
Eif4enif1	T	A	11: 3,192,687 (GRCm39)	H838Q	probably damaging	Het
Erich3	A	T	3: 154,469,217 (GRCm39)	D1223V	probably damaging	Het
Fbxl2	A	G	9: 113,815,576 (GRCm39)	I229T	possibly damaging	Het
Gfm2	G	A	13: 97,299,659 (GRCm39)	A406T	probably damaging	Het
Ggnbp2	A	G	11: 84,760,794 (GRCm39)	M1T	probably null	Het
Glb1l2	C	T	9: 26,708,162 (GRCm39)		probably benign	Het
Gnl2	A	G	4: 124,946,633 (GRCm39)	K618R	probably benign	Het
Greb1	A	T	12: 16,766,760 (GRCm39)	I346K	probably benign	Het
Greb1l	G	A	18: 10,542,427 (GRCm39)	E1341K	probably damaging	Het
Gtse1	A	G	15: 85,757,993 (GRCm39)	Q533R	probably benign	Het
Hemgn	A	G	4: 46,403,927 (GRCm39)	S23P	possibly damaging	Het
Htr6	G	T	4: 138,788,977 (GRCm39)	H359Q	probably damaging	Het
Ifit1	T	C	19: 34,626,204 (GRCm39)	F447L	probably benign	Het
Kansl1	T	C	11: 104,315,684 (GRCm39)	Y118C	possibly damaging	Het
Khk	G	A	5: 31,084,373 (GRCm39)	V118M	probably benign	Het
Klra17	T	A	6: 129,845,671 (GRCm39)	K181M	probably damaging	Het
Lbh	T	C	17: 73,228,287 (GRCm39)		probably null	Het
Lmo2	T	C	2: 103,806,445 (GRCm39)	I108T	probably damaging	Het
Maco1	T	C	4: 134,564,330 (GRCm39)		probably benign	Het
Mgat5	T	A	1: 127,315,251 (GRCm39)		probably null	Het
Mink1	T	C	11: 70,498,169 (GRCm39)	V525A	probably benign	Het
Myo10	C	A	15: 25,778,164 (GRCm39)		probably null	Het
Nlrp2	T	C	7: 5,328,007 (GRCm39)	N682S	probably benign	Het
Nr2e3	G	A	9: 59,856,617 (GRCm39)		probably benign	Het
Or5p5	T	C	7: 107,414,171 (GRCm39)	C129R	probably damaging	Het
Or6b2b	T	C	1: 92,418,758 (GRCm39)	T240A	probably damaging	Het
Pabpc4l	T	C	3: 46,401,276 (GRCm39)	T123A	probably benign	Het
Pfas	G	A	11: 68,878,847 (GRCm39)	S1319F	probably damaging	Het
Phf3	T	C	1: 30,842,887 (GRCm39)	K2024R	probably damaging	Het
Pld4	G	A	12: 112,735,046 (GRCm39)	C501Y	probably damaging	Het
Psg16	C	T	7: 16,824,560 (GRCm39)	R115W	probably damaging	Het
Rab3gap1	G	A	1: 127,870,110 (GRCm39)		probably null	Het
Rimkla	C	A	4: 119,335,049 (GRCm39)	K111N	probably damaging	Het
Rrm2b	T	C	15: 37,927,571 (GRCm39)	E113G	probably damaging	Het
Rspry1	C	T	8: 95,349,813 (GRCm39)	T67I	probably benign	Het
Skint6	C	A	4: 113,041,965 (GRCm39)	E292*	probably null	Het
Skint8	C	A	4: 111,807,390 (GRCm39)	L359M	probably damaging	Het
Slc13a1	A	G	6: 24,134,373 (GRCm39)	M170T	probably benign	Het
Slc15a5	T	C	6: 138,050,034 (GRCm39)	N127S	probably benign	Het
Slc39a10	G	A	1: 46,875,285 (GRCm39)	H6Y	probably damaging	Het
Spata31e2	A	C	1: 26,724,169 (GRCm39)	V337G	probably benign	Het
Sugct	A	T	13: 17,427,145 (GRCm39)	C338*	probably null	Het
Tbk1	A	T	10: 121,391,956 (GRCm39)	M486K	probably benign	Het
Thoc5	T	A	11: 4,860,648 (GRCm39)	Y246N	probably damaging	Het
Tmem167b	G	A	3: 108,469,415 (GRCm39)		probably benign	Het
Tmtc1	T	A	6: 148,256,910 (GRCm39)		probably benign	Het
Zfp322a	A	T	13: 23,541,532 (GRCm39)	M70K	possibly damaging	Het
Zfp979	A	T	4: 147,698,375 (GRCm39)	H111Q	possibly damaging	Het

Other mutations in Terf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02302:Terf1	APN	1	15,903,626 (GRCm39)	missense	probably damaging	1.00
R0358:Terf1	UTSW	1	15,876,062 (GRCm39)	missense	possibly damaging	0.84
R0369:Terf1	UTSW	1	15,889,207 (GRCm39)	missense	probably damaging	1.00
R1471:Terf1	UTSW	1	15,913,194 (GRCm39)	missense	probably damaging	1.00
R1853:Terf1	UTSW	1	15,889,162 (GRCm39)	nonsense	probably null
R1942:Terf1	UTSW	1	15,876,038 (GRCm39)	missense	probably benign	0.34
R2029:Terf1	UTSW	1	15,876,170 (GRCm39)	missense	possibly damaging	0.82
R2132:Terf1	UTSW	1	15,875,909 (GRCm39)	missense	probably benign	0.02
R2391:Terf1	UTSW	1	15,875,963 (GRCm39)	nonsense	probably null
R4255:Terf1	UTSW	1	15,875,903 (GRCm39)	start codon destroyed	probably null	1.00
R4685:Terf1	UTSW	1	15,889,185 (GRCm39)	missense	possibly damaging	0.80
R5291:Terf1	UTSW	1	15,889,310 (GRCm39)	splice site	probably null
R5338:Terf1	UTSW	1	15,901,787 (GRCm39)	missense	possibly damaging	0.48
R5661:Terf1	UTSW	1	15,889,888 (GRCm39)	missense	probably damaging	1.00
R6216:Terf1	UTSW	1	15,889,221 (GRCm39)	missense	probably benign	0.09
R6719:Terf1	UTSW	1	15,908,460 (GRCm39)	missense	probably benign	0.01
R7126:Terf1	UTSW	1	15,883,363 (GRCm39)	missense	probably benign	0.04
R7917:Terf1	UTSW	1	15,889,300 (GRCm39)	missense	probably damaging	1.00
R9217:Terf1	UTSW	1	15,883,295 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTATCCAAAACGCCTGGG -3'
(R):5'- TGTCACGAGTACGACGAAAG -3'

Sequencing Primer
(F):5'- GCTCGGATCGACAAGGAATTTAGC -3'
(R):5'- ACGAAAGTCCTCGGAGCG -3'

Posted On

2016-07-22