Mutagenetix > Incidental Mutation

Incidental Mutation 'R8089:Terf2ip'

629845

Institutional Source

Beutler Lab

Gene Symbol

Terf2ip

Ensembl Gene

ENSMUSG00000033430

Gene Name

telomeric repeat binding factor 2, interacting protein

Synonyms

Rap1

MMRRC Submission

067522-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8089 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

112738030-112747160 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 112738424 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 104 (T104M)

Ref Sequence

ENSEMBL: ENSMUSP00000052170 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034426] [ENSMUST00000052138] [ENSMUST00000071732] [ENSMUST00000093120] [ENSMUST00000164470] [ENSMUST00000211990]

AlphaFold

Q91VL8

Predicted Effect

probably benign
Transcript: ENSMUST00000034426

SMART Domains

Protein: ENSMUSP00000034426
Gene: ENSMUSG00000031948

Domain	Start	End	E-Value	Type
coiled coil region	14	53	N/A	INTRINSIC
Pfam:tRNA_anti-codon	124	204	2.8e-15	PFAM
Pfam:tRNA-synt_2	220	573	4.9e-93	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000052138
AA Change: T104M

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000052170
Gene: ENSMUSG00000033430
AA Change: T104M

Domain	Start	End	E-Value	Type
Pfam:BRCT_2	17	100	1.4e-23	PFAM
Pfam:Myb_DNA-bind_2	129	193	3.9e-35	PFAM
low complexity region	279	298	N/A	INTRINSIC
Pfam:Rap1_C	315	392	2e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000071732

SMART Domains

Protein: ENSMUSP00000128163
Gene: ENSMUSG00000092086

Domain	Start	End	E-Value	Type
RRM	14	86	3.1e-26	SMART
RRM	105	177	8.1e-24	SMART
low complexity region	192	310	N/A	INTRINSIC
low complexity region	321	350	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000093120

SMART Domains

Protein: ENSMUSP00000090808
Gene: ENSMUSG00000031948

Domain	Start	End	E-Value	Type
coiled coil region	44	82	N/A	INTRINSIC
Pfam:tRNA_anti-codon	153	233	3.6e-17	PFAM
Pfam:tRNA-synt_2	249	601	1.1e-79	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000164470

SMART Domains

Protein: ENSMUSP00000126268
Gene: ENSMUSG00000031948

Domain	Start	End	E-Value	Type
coiled coil region	44	82	N/A	INTRINSIC
Pfam:tRNA_anti-codon	153	233	1.6e-16	PFAM
Pfam:tRNA-synt_2	249	602	1.8e-94	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000211990

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.8%
20x: 94.7%

Validation Efficiency

93% (54/58)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The gene encodes a protein that is part of a complex involved in telomere length regulation. Pseudogenes are present on chromosomes 5 and 22. [provided by RefSeq, Apr 2010]
PHENOTYPE: Mice homozygous for a knock-out allele are fertile. Mice homozygous for a gene trapped allele die prior to E6.5 while heterozygous mice are resistant to LPS-induced mortality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	C	T	2: 69,104,383 (GRCm39)	V768I	probably benign	Het
Abcc8	G	A	7: 45,757,780 (GRCm39)	T1323I	probably benign	Het
Adamtsl2	A	G	2: 26,994,809 (GRCm39)	M828V	probably benign	Het
Agmo	A	G	12: 37,397,306 (GRCm39)	D153G	probably benign	Het
Akap13	T	A	7: 75,260,340 (GRCm39)	V185D	possibly damaging	Het
Asic1	A	G	15: 99,595,968 (GRCm39)	N414D	probably damaging	Het
Bin1	T	A	18: 32,562,236 (GRCm39)		probably null	Het
Ccar1	C	A	10: 62,626,770 (GRCm39)	M1I	probably null	Het
Cdh26	T	A	2: 178,099,370 (GRCm39)		probably null	Het
Csmd3	C	T	15: 47,532,603 (GRCm39)	D1620N		Het
Dennd4a	A	T	9: 64,756,457 (GRCm39)	N204I	probably damaging	Het
Dgkb	G	A	12: 38,234,949 (GRCm39)	S438N	probably damaging	Het
Dmxl1	T	C	18: 50,021,897 (GRCm39)	M1604T	probably damaging	Het
Fhad1	T	A	4: 141,684,971 (GRCm39)	D456V	probably damaging	Het
Gcfc2	C	T	6: 81,902,771 (GRCm39)	T86M	probably damaging	Het
Idua	T	A	5: 108,829,646 (GRCm39)	M503K	probably damaging	Het
Ift70b	T	C	2: 75,767,647 (GRCm39)	T369A	possibly damaging	Het
Ighm	T	C	12: 113,384,854 (GRCm39)		probably benign	Het
Kmt2d	A	T	15: 98,740,750 (GRCm39)	S4676T	unknown	Het
Ldlrad1	G	A	4: 107,066,688 (GRCm39)	A8T	probably benign	Het
Lmtk2	G	A	5: 144,093,718 (GRCm39)	V232M	probably benign	Het
Map3k13	T	C	16: 21,722,567 (GRCm39)	V243A	possibly damaging	Het
Moxd1	A	G	10: 24,157,417 (GRCm39)	T350A	probably benign	Het
Nalcn	A	T	14: 123,537,372 (GRCm39)	W1175R	probably damaging	Het
Or10u4	A	T	10: 129,802,566 (GRCm39)	M1K	probably null	Het
Or5h27	T	G	16: 59,006,073 (GRCm39)	I258L	unknown	Het
Or8g26	T	A	9: 39,095,927 (GRCm39)	V148E	probably damaging	Het
Pacsin2	A	G	15: 83,263,897 (GRCm39)	I380T	probably benign	Het
Plcd1	A	C	9: 118,905,060 (GRCm39)	C214G	possibly damaging	Het
Poglut3	C	T	9: 53,307,262 (GRCm39)	A402V	probably benign	Het
Ptprm	C	A	17: 66,990,483 (GRCm39)	W1385L	possibly damaging	Het
Rab22a	C	T	2: 173,530,013 (GRCm39)	Q64*	probably null	Het
Rasa2	G	T	9: 96,435,177 (GRCm39)	H604Q	probably benign	Het
Rasal1	G	A	5: 120,809,643 (GRCm39)	G516D	probably damaging	Het
Rasgrp3	A	T	17: 75,804,056 (GRCm39)	I120L	possibly damaging	Het
Repin1	G	T	6: 48,574,279 (GRCm39)	E403*	probably null	Het
Rgs12	T	C	5: 35,177,692 (GRCm39)	I742T	probably damaging	Het
Scyl3	A	G	1: 163,763,996 (GRCm39)	T121A	possibly damaging	Het
Six5	T	G	7: 18,828,797 (GRCm39)	F79C	probably damaging	Het
Tbx3	G	A	5: 119,818,634 (GRCm39)	R423H	probably damaging	Het
Tmem135	A	G	7: 88,805,703 (GRCm39)	C234R	probably damaging	Het
Tnxb	C	G	17: 34,891,763 (GRCm39)	A702G	unknown	Het
Tspan1	T	C	4: 116,021,532 (GRCm39)	K83R	probably null	Het
Ttn	C	T	2: 76,728,406 (GRCm39)		probably null	Het
Usp5	A	T	6: 124,797,373 (GRCm39)		probably null	Het
Vmn1r27	T	A	6: 58,192,194 (GRCm39)	Y270F	possibly damaging	Het
Vmn2r110	G	A	17: 20,803,807 (GRCm39)	T256I	probably benign	Het
Zfp831	T	A	2: 174,486,717 (GRCm39)	L464Q	possibly damaging	Het
Zscan4-ps3	C	A	7: 11,346,659 (GRCm39)	H232N	probably benign	Het

Other mutations in Terf2ip

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01901:Terf2ip	APN	8	112,738,700 (GRCm39)	missense	probably benign
R0244:Terf2ip	UTSW	8	112,744,796 (GRCm39)	missense	possibly damaging	0.73
R0544:Terf2ip	UTSW	8	112,741,974 (GRCm39)	missense	possibly damaging	0.88
R0617:Terf2ip	UTSW	8	112,738,127 (GRCm39)	missense	probably benign	0.10
R0976:Terf2ip	UTSW	8	112,738,349 (GRCm39)	missense	probably damaging	0.98
R1709:Terf2ip	UTSW	8	112,738,238 (GRCm39)	frame shift	probably null
R2078:Terf2ip	UTSW	8	112,742,035 (GRCm39)	missense	probably benign	0.02
R2134:Terf2ip	UTSW	8	112,738,271 (GRCm39)	missense	possibly damaging	0.71
R4572:Terf2ip	UTSW	8	112,738,649 (GRCm39)	missense	probably damaging	1.00
R6172:Terf2ip	UTSW	8	112,744,649 (GRCm39)	missense	probably damaging	1.00
R6266:Terf2ip	UTSW	8	112,738,547 (GRCm39)	missense	probably damaging	1.00
R6563:Terf2ip	UTSW	8	112,744,834 (GRCm39)	missense	probably damaging	1.00
R7180:Terf2ip	UTSW	8	112,738,052 (GRCm39)	unclassified	probably benign
R7203:Terf2ip	UTSW	8	112,744,618 (GRCm39)	missense	probably benign	0.30
R7222:Terf2ip	UTSW	8	112,738,547 (GRCm39)	missense	possibly damaging	0.64
R7304:Terf2ip	UTSW	8	112,738,280 (GRCm39)	missense	possibly damaging	0.86
R7787:Terf2ip	UTSW	8	112,742,087 (GRCm39)	missense	probably damaging	0.96
R7938:Terf2ip	UTSW	8	112,738,717 (GRCm39)	missense	possibly damaging	0.87
R8969:Terf2ip	UTSW	8	112,738,370 (GRCm39)	missense	probably damaging	0.98
R9376:Terf2ip	UTSW	8	112,744,528 (GRCm39)	missense	probably benign	0.01
R9376:Terf2ip	UTSW	8	112,738,514 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- CATGTCGTTTTACGTGCGGC -3'
(R):5'- CGCTTTCCACAAGGCATTGC -3'

Sequencing Primer
(F):5'- TTTTACGTGCGGCCCAGC -3'
(R):5'- ATTGCCTGTGACCGAGCTG -3'

Posted On

2020-06-30