Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01901:Terf2ip'

179536

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Terf2ip

Ensembl Gene

ENSMUSG00000033430

Gene Name

telomeric repeat binding factor 2, interacting protein

Synonyms

Rap1

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01901

Quality Score

Status

Chromosome

Chromosomal Location

112011398-112020528 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 112012068 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 196 (N196S)

Ref Sequence

ENSEMBL: ENSMUSP00000052170 (fasta)

Gene Model

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

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: N196S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000052170
Gene: ENSMUSG00000033430
AA Change: N196S

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

noncoding transcript
Transcript: ENSMUST00000211978

Predicted Effect

probably benign
Transcript: ENSMUST00000211990

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212732

Coding Region Coverage

Validation Efficiency

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931408C20Rik	A	G	1: 26,682,584	F1172L	probably benign	Het
Adam2	A	G	14: 66,035,229		probably benign	Het
Aldh1a7	T	G	19: 20,717,739	Y154S	probably damaging	Het
BC117090	C	A	16: 36,334,263	A11S	probably damaging	Het
Casc3	A	G	11: 98,823,121	D393G	probably damaging	Het
Cd180	A	G	13: 102,706,428	I661V	probably benign	Het
Cdh1	T	C	8: 106,657,760	S287P	probably damaging	Het
Clnk	T	C	5: 38,794,978	N6S	probably damaging	Het
Cyp17a1	C	T	19: 46,671,092	V100M	possibly damaging	Het
Ddhd2	A	G	8: 25,748,594	V53A	probably damaging	Het
Elovl7	T	A	13: 108,274,393		probably null	Het
Gm10717	C	T	9: 3,025,616	S67L	probably benign	Het
Gm10718	A	T	9: 3,025,118	Y194F	probably benign	Het
Gm14180	A	G	11: 99,734,227	S22P	unknown	Het
Gm21738	G	A	14: 19,416,979	S144L	probably benign	Het
Golga5	G	A	12: 102,479,802		probably null	Het
Gpr162	A	T	6: 124,861,407	F93L	possibly damaging	Het
Kcnh8	G	A	17: 52,894,120		probably benign	Het
Lamp3	A	T	16: 19,673,419	F358L	probably damaging	Het
Mdn1	T	G	4: 32,669,591	D409E	probably damaging	Het
Ms4a10	T	C	19: 10,963,010	D211G	probably benign	Het
Ms4a3	T	C	19: 11,639,266	E4G	possibly damaging	Het
Myo15	A	G	11: 60,527,434		probably benign	Het
Olfr1257	A	G	2: 89,881,482	I219V	probably damaging	Het
Olfr1448	T	C	19: 12,919,583	H242R	probably damaging	Het
Olfr612	A	T	7: 103,538,970	L88Q	probably damaging	Het
Olfr638	A	G	7: 104,004,067	H264R	probably damaging	Het
Olfr698	A	G	7: 106,752,545	V281A	possibly damaging	Het
Olfr815	A	G	10: 129,901,853	F286L	probably benign	Het
Penk	T	C	4: 4,134,465	I61V	probably benign	Het
Pkhd1	T	A	1: 20,220,083	K2860N	probably benign	Het
Prtg	C	T	9: 72,855,066	P492S	probably damaging	Het
Tdrd7	T	C	4: 45,989,225		probably benign	Het
Tgtp1	T	C	11: 48,987,555	N108D	possibly damaging	Het
Thumpd3	A	G	6: 113,059,971	H277R	probably benign	Het
Tshz2	T	A	2: 169,885,536	L215Q	possibly damaging	Het
Ube3c	T	A	5: 29,668,007	V1015E	probably damaging	Het
Utrn	T	A	10: 12,640,928	K2307N	probably damaging	Het
Vmn1r75	A	G	7: 11,880,812	Y157C	probably damaging	Het
Vmn2r-ps159	C	T	4: 156,338,254		noncoding transcript	Het

Other mutations in Terf2ip

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0244:Terf2ip	UTSW	8	112018164	missense	possibly damaging	0.73
R0544:Terf2ip	UTSW	8	112015342	missense	possibly damaging	0.88
R0617:Terf2ip	UTSW	8	112011495	missense	probably benign	0.10
R0976:Terf2ip	UTSW	8	112011717	missense	probably damaging	0.98
R1709:Terf2ip	UTSW	8	112011606	frame shift	probably null
R2078:Terf2ip	UTSW	8	112015403	missense	probably benign	0.02
R2134:Terf2ip	UTSW	8	112011639	missense	possibly damaging	0.71
R4572:Terf2ip	UTSW	8	112012017	missense	probably damaging	1.00
R6172:Terf2ip	UTSW	8	112018017	missense	probably damaging	1.00
R6266:Terf2ip	UTSW	8	112011915	missense	probably damaging	1.00
R6563:Terf2ip	UTSW	8	112018202	missense	probably damaging	1.00

Posted On

2014-05-07