Mutagenetix > Incidental Mutation

Incidental Mutation 'R6216:Terf1'

503684

Institutional Source

Beutler Lab

Gene Symbol

Terf1

Ensembl Gene

ENSMUSG00000025925

Gene Name

telomeric repeat binding factor 1

Synonyms

Pin2, Trbf1, Trf1

MMRRC Submission

044349-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6216 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

15875870-15914276 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 15889221 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 188 (H188Y)

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: H188Y

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000027057
Gene: ENSMUSG00000025925
AA Change: H188Y

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: H217Y

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000140744
Gene: ENSMUSG00000025925
AA Change: H217Y

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

0.4537

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

97% (67/69)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	T	C	9: 57,164,910 (GRCm39)	D488G	probably benign	Het
Adgrv1	C	A	13: 81,672,590 (GRCm39)		probably null	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Alkbh3	G	A	2: 93,838,881 (GRCm39)		probably benign	Het
Ankrd22	A	T	19: 34,101,569 (GRCm39)		probably null	Het
Anks1b	A	G	10: 90,096,618 (GRCm39)	D425G	probably damaging	Het
Arid2	A	G	15: 96,254,790 (GRCm39)	D212G	probably benign	Het
Bbx	A	T	16: 50,071,751 (GRCm39)	S225T	probably benign	Het
Bivm	T	A	1: 44,166,028 (GRCm39)		probably null	Het
Bpifb3	A	G	2: 153,767,773 (GRCm39)	Y282C	probably benign	Het
Cacna1h	A	T	17: 25,597,793 (GRCm39)	I1767N	probably damaging	Het
Ccdc28a	G	T	10: 18,100,719 (GRCm39)	S36*	probably null	Het
Ccser2	A	G	14: 36,662,465 (GRCm39)	S240P	probably damaging	Het
Ceacam1	A	T	7: 25,171,421 (GRCm39)	S348T	probably benign	Het
Ddx49	C	T	8: 70,749,934 (GRCm39)	G161D	probably damaging	Het
Dhx16	A	G	17: 36,193,864 (GRCm39)	E353G	possibly damaging	Het
Dnaaf6rt	A	T	1: 31,262,432 (GRCm39)	D138V	probably damaging	Het
Etv2	A	G	7: 30,334,036 (GRCm39)		probably null	Het
Extl1	T	C	4: 134,090,441 (GRCm39)	T345A	probably benign	Het
Fam163a	A	T	1: 155,954,741 (GRCm39)	S137T	probably benign	Het
Fermt2	A	T	14: 45,697,338 (GRCm39)	M671K	possibly damaging	Het
Fsd1l	T	C	4: 53,694,742 (GRCm39)	C388R	probably damaging	Het
Galnt18	A	C	7: 111,112,757 (GRCm39)	V470G	probably benign	Het
Grin2b	T	A	6: 135,749,397 (GRCm39)	I602F	probably damaging	Het
Gucy1b1	G	T	3: 81,954,020 (GRCm39)		probably null	Het
Hace1	T	C	10: 45,494,643 (GRCm39)	V151A	probably benign	Het
Hadhb	T	A	5: 30,379,929 (GRCm39)	D258E	probably benign	Het
Heatr1	C	T	13: 12,447,545 (GRCm39)	T1746I	probably benign	Het
Hrnr	T	C	3: 93,239,469 (GRCm39)	S3236P	unknown	Het
Kcnd1	G	C	X: 7,690,148 (GRCm39)	A23P	probably damaging	Homo
Kiz	C	A	2: 146,731,417 (GRCm39)	D302E	probably damaging	Het
Kng2	A	T	16: 22,806,343 (GRCm39)	W619R	probably damaging	Het
Mfap3l	C	A	8: 61,124,841 (GRCm39)	T361K	probably damaging	Het
Mlec	T	C	5: 115,288,376 (GRCm39)	H160R	probably benign	Het
Myo16	T	C	8: 10,365,494 (GRCm39)	L89P	probably benign	Het
Neb	T	C	2: 52,114,564 (GRCm39)	I4232V	probably benign	Het
Nf1	A	G	11: 79,302,433 (GRCm39)	I334V	possibly damaging	Het
Nipbl	A	C	15: 8,347,867 (GRCm39)	F1942V	probably damaging	Het
Or2ag17	A	T	7: 106,389,665 (GRCm39)	I181N	probably benign	Het
Or4a70	C	A	2: 89,324,066 (GRCm39)	V197F	probably damaging	Het
Or4c11c	T	C	2: 88,661,655 (GRCm39)	S65P	probably damaging	Het
Or51a10	A	G	7: 103,698,902 (GRCm39)	Y220H	probably damaging	Het
Pabpc2	G	T	18: 39,907,772 (GRCm39)	A346S	probably damaging	Het
Paxip1	T	C	5: 27,971,171 (GRCm39)	T393A	unknown	Het
Pcdhgb5	A	T	18: 37,864,981 (GRCm39)	T259S	probably benign	Het
Pfkp	A	T	13: 6,669,224 (GRCm39)	L253H	probably benign	Het
Piezo1	T	C	8: 123,215,869 (GRCm39)	D1428G	probably benign	Het
Pkd1l2	T	G	8: 117,808,209 (GRCm39)	D105A	probably damaging	Het
Pou2f1	G	T	1: 165,707,889 (GRCm39)		probably benign	Het
Ppfia4	T	C	1: 134,256,921 (GRCm39)	E100G	probably damaging	Het
Ppp1r15a	G	T	7: 45,173,446 (GRCm39)	T454K	probably damaging	Het
Prpsap1	A	T	11: 116,362,239 (GRCm39)	I381N	probably damaging	Het
Ptx3	T	A	3: 66,132,265 (GRCm39)	V262E	probably damaging	Het
Rab21	A	T	10: 115,130,831 (GRCm39)	H158Q	probably benign	Het
Rasa2	A	G	9: 96,426,357 (GRCm39)	S830P	probably damaging	Het
Rdh1	G	A	10: 127,600,622 (GRCm39)	S215N	probably benign	Het
Rhot1	G	A	11: 80,141,885 (GRCm39)	R463H	probably benign	Het
Rsf1	CG	CGACGGCGGGG	7: 97,229,115 (GRCm39)		probably benign	Het
Sart3	C	T	5: 113,881,267 (GRCm39)	A938T	probably benign	Het
Selenom	A	T	11: 3,464,915 (GRCm39)		probably benign	Het
Selenop	T	C	15: 3,308,947 (GRCm39)	C300R	probably damaging	Het
Skint1	T	A	4: 111,878,679 (GRCm39)	S204T	probably benign	Het
Ss18l1	A	G	2: 179,703,706 (GRCm39)	N313S	unknown	Het
Sycp2l	A	G	13: 41,295,200 (GRCm39)	D289G	probably damaging	Het
Tmem116	C	T	5: 121,629,171 (GRCm39)	T188M	probably benign	Het
Trdn	A	G	10: 33,181,065 (GRCm39)	T357A	probably damaging	Het
Trip11	A	C	12: 101,856,859 (GRCm39)	M401R	probably benign	Het
Ubald2	A	C	11: 116,325,211 (GRCm39)	D26A	probably benign	Het
Ube2w	C	G	1: 16,689,508 (GRCm39)		probably benign	Het
Vmn2r101	T	A	17: 19,811,267 (GRCm39)	S450R	probably benign	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
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
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'- TGTGTCTGAAACAAAATGTCGGG -3'
(R):5'- TGATAGATACAATGCTCTCTAGGC -3'

Sequencing Primer
(F):5'- GCATTAAAGAAGACAATACGTGTGTC -3'
(R):5'- GATCAGAGTTTAGTTCCCAGGTCC -3'

Posted On

2018-02-27