Mutagenetix > Incidental Mutation

Incidental Mutation 'R1942:Terf1'

216259

Institutional Source

Beutler Lab

Gene Symbol

Terf1

Ensembl Gene

ENSMUSG00000025925

Gene Name

telomeric repeat binding factor 1

Synonyms

Pin2, Trbf1, Trf1

MMRRC Submission

039960-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1942 (G1)

Quality Score

174

Status

Validated

Chromosome

Chromosomal Location

15875870-15914276 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 15876038 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Isoleucine at position 46 (R46I)

Ref Sequence

ENSEMBL: ENSMUSP00000027057 (fasta)

Gene Model

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

AlphaFold

P70371

Predicted Effect

probably benign
Transcript: ENSMUST00000027057
AA Change: R46I

PolyPhen 2 Score 0.343 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000027057
Gene: ENSMUSG00000025925
AA Change: R46I

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 benign
Transcript: ENSMUST00000188371
AA Change: R46I

PolyPhen 2 Score 0.096 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000140744
Gene: ENSMUSG00000025925
AA Change: R46I

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

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.7%

Validation Efficiency

100% (75/75)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	A	T	15: 81,949,625 (GRCm39)	Y1174F	probably damaging	Het
Ahnak	A	G	19: 8,992,447 (GRCm39)	E4577G	probably damaging	Het
Anapc4	T	C	5: 53,004,056 (GRCm39)	V291A	probably benign	Het
Apba2	A	G	7: 64,345,218 (GRCm39)	E136G	possibly damaging	Het
Arhgap20	C	A	9: 51,742,998 (GRCm39)	Q279K	probably benign	Het
B3galnt1	A	T	3: 69,483,258 (GRCm39)	M1K	probably null	Het
C4bp	C	A	1: 130,583,804 (GRCm39)		probably benign	Het
Catsperg1	G	A	7: 28,906,232 (GRCm39)	T157I	possibly damaging	Het
Cfap90	A	C	13: 68,761,090 (GRCm39)	I171L	probably benign	Het
Chrm1	T	A	19: 8,655,637 (GRCm39)	M114K	probably damaging	Het
Clasp1	A	G	1: 118,429,078 (GRCm39)	E329G	possibly damaging	Het
Clrn2	A	C	5: 45,611,337 (GRCm39)	Y62S	probably benign	Het
Col12a1	T	G	9: 79,542,748 (GRCm39)	D2339A	probably damaging	Het
Copa	T	A	1: 171,939,455 (GRCm39)	L564Q	probably damaging	Het
Cpeb2	C	A	5: 43,392,596 (GRCm39)		probably benign	Het
Dhx57	A	T	17: 80,572,573 (GRCm39)	M647K	probably damaging	Het
Diaph3	C	T	14: 87,378,556 (GRCm39)		probably benign	Het
Eomes	A	G	9: 118,313,716 (GRCm39)	D587G	probably benign	Het
Gm5142	T	A	14: 59,416,156 (GRCm39)	M1L	probably benign	Het
Gnl2	A	G	4: 124,923,957 (GRCm39)	I12V	probably benign	Het
Gprin1	C	T	13: 54,887,752 (GRCm39)	C174Y	probably benign	Het
Grin2b	A	T	6: 135,709,730 (GRCm39)	V1272E	possibly damaging	Het
Hdac9	A	G	12: 34,479,544 (GRCm39)	L227S	probably damaging	Het
Helz	T	A	11: 107,493,318 (GRCm39)	L247Q	probably benign	Het
Hs6st1	T	C	1: 36,107,803 (GRCm39)	V22A	probably benign	Het
Hspg2	C	A	4: 137,269,863 (GRCm39)	A2304E	possibly damaging	Het
Htr3a	T	C	9: 48,819,911 (GRCm39)	Y73C	probably damaging	Het
Il1rap	A	C	16: 26,541,205 (GRCm39)	E482A	probably damaging	Het
Itsn2	T	A	12: 4,689,670 (GRCm39)	L581*	probably null	Het
Msmb	A	G	14: 31,870,034 (GRCm39)	E2G	probably benign	Het
Muc19	T	C	15: 91,776,666 (GRCm39)		noncoding transcript	Het
Muc4	A	C	16: 32,569,460 (GRCm39)	L173F	probably damaging	Het
Muc5b	A	T	7: 141,411,421 (GRCm39)	S1456C	unknown	Het
Mylip	A	T	13: 45,560,172 (GRCm39)	I203F	probably damaging	Het
Nckap5	A	T	1: 125,952,039 (GRCm39)	D1504E	probably damaging	Het
Neil1	C	G	9: 57,053,891 (GRCm39)	R143P	probably benign	Het
Nlrp2	T	A	7: 5,325,447 (GRCm39)	T742S	probably damaging	Het
Nme8	A	G	13: 19,859,978 (GRCm39)	V214A	probably damaging	Het
Nsun7	C	T	5: 66,441,588 (GRCm39)	T419I	probably benign	Het
Nup210l	G	A	3: 90,058,544 (GRCm39)	E648K	probably benign	Het
Or10g6	T	A	9: 39,934,031 (GRCm39)	L114H	probably damaging	Het
Or10g6	T	C	9: 39,934,048 (GRCm39)	Y120H	probably damaging	Het
Or2y1c	T	C	11: 49,360,981 (GRCm39)	M1T	probably null	Het
Or8s2	A	G	15: 98,276,445 (GRCm39)	L182P	probably damaging	Het
Parp11	A	C	6: 127,447,663 (GRCm39)		probably null	Het
Pomgnt1	G	T	4: 116,012,472 (GRCm39)		probably null	Het
Ppp1r14c	T	C	10: 3,413,417 (GRCm39)	I150T	probably damaging	Het
Psd4	A	G	2: 24,295,805 (GRCm39)	E908G	probably damaging	Het
Psmd6	A	T	14: 14,116,442 (GRCm38)	V91E	probably damaging	Het
Ptk2b	A	T	14: 66,406,830 (GRCm39)	V634D	probably damaging	Het
Rapgef6	A	G	11: 54,548,089 (GRCm39)	I753V	possibly damaging	Het
Rbm45	G	A	2: 76,205,823 (GRCm39)		probably null	Het
Ric1	A	G	19: 29,578,416 (GRCm39)		probably benign	Het
Sh3rf2	A	G	18: 42,282,689 (GRCm39)	K416E	probably damaging	Het
Six5	C	T	7: 18,830,858 (GRCm39)	A495V	possibly damaging	Het
Slc27a6	T	A	18: 58,689,870 (GRCm39)	M112K	probably damaging	Het
Slc5a4a	T	C	10: 75,983,422 (GRCm39)	S20P	unknown	Het
Smg1	A	G	7: 117,757,326 (GRCm39)		probably benign	Het
Sntb2	G	A	8: 107,737,984 (GRCm39)	A511T	probably damaging	Het
Stk31	A	T	6: 49,416,061 (GRCm39)	N622I	probably damaging	Het
Sulf1	T	C	1: 12,918,397 (GRCm39)	F38S	probably damaging	Het
Szt2	G	T	4: 118,249,817 (GRCm39)	T521K	probably benign	Het
Tmem245	A	G	4: 56,923,511 (GRCm39)		probably benign	Het
Tmigd1	T	C	11: 76,804,905 (GRCm39)		probably null	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Umod	A	G	7: 119,076,155 (GRCm39)	Y204H	probably damaging	Het
Vcan	T	A	13: 89,851,543 (GRCm39)	Q1139L	probably benign	Het
Vmn1r85	T	A	7: 12,818,668 (GRCm39)	T159S	possibly damaging	Het
Vmn2r103	T	A	17: 20,032,562 (GRCm39)	S779T	probably benign	Het
Vmn2r27	C	T	6: 124,200,722 (GRCm39)	A412T	probably damaging	Het
Zc3h12d	A	C	10: 7,729,077 (GRCm39)	D147A	probably damaging	Het
Zfp800	A	T	6: 28,243,272 (GRCm39)	D564E	probably benign	Het
Zfp932	A	G	5: 110,154,853 (GRCm39)	E17G	probably 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
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
R5310:Terf1	UTSW	1	15,875,909 (GRCm39)	missense	probably damaging	0.97
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'- GATGCGATTGGCTGACTTCC -3'
(R):5'- TTCCAGCAAACAGGAAGCG -3'

Sequencing Primer
(F):5'- GATTGGCTGACTTCCACGCC -3'
(R):5'- AGGAAGCGGCCGGTTTC -3'

Posted On

2014-08-01