Mutagenetix > Incidental Mutation

Incidental Mutation 'R0358:Terf1'

29915

Institutional Source

Beutler Lab

Gene Symbol

Terf1

Ensembl Gene

ENSMUSG00000025925

Gene Name

telomeric repeat binding factor 1

Synonyms

Pin2, Trbf1, Trf1

MMRRC Submission

038564-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0358 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

15875870-15914276 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 15876062 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 54 (V54A)

Ref Sequence

ENSEMBL: ENSMUSP00000027057 (fasta)

Gene Model

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

AlphaFold

P70371

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027057
AA Change: V54A

PolyPhen 2 Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000027057
Gene: ENSMUSG00000025925
AA Change: V54A

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

possibly damaging
Transcript: ENSMUST00000188371
AA Change: V54A

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000140744
Gene: ENSMUSG00000025925
AA Change: V54A

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

0.0920

Coding Region Coverage

1x: 99.0%
3x: 97.9%
10x: 95.2%
20x: 88.5%

Validation Efficiency

100% (64/64)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921513D11Rik	G	A	17: 79,935,585 (GRCm39)		probably benign	Het
Abca16	A	T	7: 120,143,939 (GRCm39)	K1651N	probably benign	Het
Abcb1b	T	C	5: 8,871,423 (GRCm39)	S326P	probably benign	Het
Ache	A	G	5: 137,288,635 (GRCm39)	T114A	probably benign	Het
Akap3	T	A	6: 126,843,775 (GRCm39)	V798D	probably damaging	Het
Ankle1	A	G	8: 71,860,189 (GRCm39)	T256A	probably damaging	Het
Aqp4	T	C	18: 15,531,302 (GRCm39)	N153S	probably benign	Het
Arhgap23	G	A	11: 97,354,414 (GRCm39)	V265M	probably damaging	Het
Arhgef25	A	T	10: 127,020,322 (GRCm39)	M326K	probably damaging	Het
Atp6v1c2	T	C	12: 17,334,961 (GRCm39)		probably benign	Het
Cars1	A	T	7: 143,142,219 (GRCm39)		probably benign	Het
Cep83	A	T	10: 94,555,593 (GRCm39)	M96L	probably benign	Het
Cfap46	A	G	7: 139,231,449 (GRCm39)		probably benign	Het
Cnnm3	T	A	1: 36,560,303 (GRCm39)	S608T	probably damaging	Het
Cul7	G	A	17: 46,974,670 (GRCm39)		probably null	Het
Dhrs2	G	A	14: 55,473,574 (GRCm39)	V78M	probably damaging	Het
Dhx38	A	T	8: 110,279,094 (GRCm39)	D1051E	probably benign	Het
Eftud2	A	G	11: 102,755,627 (GRCm39)		probably benign	Het
Egln3	T	C	12: 54,250,082 (GRCm39)	E89G	possibly damaging	Het
Eif2ak4	A	G	2: 118,294,410 (GRCm39)		probably null	Het
Fbxl17	G	A	17: 63,663,846 (GRCm39)	R67C	probably damaging	Het
Fsip2	A	T	2: 82,813,677 (GRCm39)	N3332I	possibly damaging	Het
Gbp2b	A	T	3: 142,312,550 (GRCm39)	E311V	probably damaging	Het
Gcnt2	G	T	13: 41,014,329 (GRCm39)	A167S	probably damaging	Het
Gm9797	A	T	10: 11,485,088 (GRCm39)		noncoding transcript	Het
Gpatch3	A	G	4: 133,305,215 (GRCm39)		probably null	Het
Gpr22	T	C	12: 31,759,981 (GRCm39)	N47S	probably benign	Het
Il18rap	A	T	1: 40,588,202 (GRCm39)	H600L	possibly damaging	Het
Larp7	A	G	3: 127,340,737 (GRCm39)		probably null	Het
Mep1a	A	G	17: 43,789,841 (GRCm39)	Y490H	possibly damaging	Het
Mrgprh	T	A	17: 13,096,237 (GRCm39)	V159D	probably damaging	Het
Mylk	G	C	16: 34,699,845 (GRCm39)	E403Q	possibly damaging	Het
Nrbp1	T	A	5: 31,402,231 (GRCm39)	I64N	probably damaging	Het
Nup214	G	A	2: 31,894,312 (GRCm39)		probably null	Het
Or10d1b	A	G	9: 39,613,297 (GRCm39)	I256T	possibly damaging	Het
Or13a21	G	T	7: 139,998,856 (GRCm39)	L277M	probably damaging	Het
Or2o1	T	A	11: 49,051,071 (GRCm39)	C77S	probably benign	Het
Or4k15b	A	T	14: 50,272,743 (GRCm39)	L39Q	probably damaging	Het
Pef1	A	G	4: 130,021,180 (GRCm39)	T245A	probably damaging	Het
Phrf1	A	G	7: 140,838,217 (GRCm39)		probably benign	Het
Ppig	A	G	2: 69,573,942 (GRCm39)		probably benign	Het
Ppp1r8	G	T	4: 132,562,039 (GRCm39)	F60L	probably damaging	Het
Psmd11	G	A	11: 80,353,510 (GRCm39)		probably benign	Het
Ptk6	G	T	2: 180,840,315 (GRCm39)	H230Q	probably benign	Het
Ptprd	T	C	4: 75,863,226 (GRCm39)	Y1496C	probably damaging	Het
Rhbdl3	G	T	11: 80,244,457 (GRCm39)	W388L	probably damaging	Het
Rnf130	T	A	11: 49,962,109 (GRCm39)	M185K	probably benign	Het
S100a13	A	T	3: 90,423,299 (GRCm39)	I97F	probably damaging	Het
Slc22a16	T	G	10: 40,463,488 (GRCm39)		probably null	Het
Tcte1	A	T	17: 45,846,211 (GRCm39)	T272S	probably benign	Het
Tmem63a	T	A	1: 180,783,988 (GRCm39)	N189K	probably benign	Het
Trim32	G	A	4: 65,531,491 (GRCm39)	R16Q	probably damaging	Het
Trim66	G	A	7: 109,059,383 (GRCm39)	Q954*	probably null	Het
Trpv4	A	G	5: 114,768,493 (GRCm39)	F525S	probably damaging	Het
Ttll7	A	G	3: 146,649,871 (GRCm39)	T634A	probably benign	Het
Tut7	T	C	13: 59,929,918 (GRCm39)	D47G	probably damaging	Het
Ush2a	T	G	1: 188,269,977 (GRCm39)	N1741K	possibly damaging	Het
Wdr87-ps	A	T	7: 29,231,636 (GRCm39)		noncoding transcript	Het
Zfp451	T	A	1: 33,816,810 (GRCm39)	H163L	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
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
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'- TCGGTTTAACATGGCGGAGACG -3'
(R):5'- ACTTCCAGCAAACAGGAAGCGG -3'

Sequencing Primer
(F):5'- AGACGGTCTCCTCAGCG -3'
(R):5'- ACGAGTACGACGAAAGTCCT -3'

Posted On

2013-04-24