Mutagenetix > Incidental Mutation

Incidental Mutation 'R5575:Tinf2'

437187

Institutional Source

Beutler Lab

Gene Symbol

Tinf2

Ensembl Gene

ENSMUSG00000007589

Gene Name

Terf1 (TRF1)-interacting nuclear factor 2

Synonyms

D14Wsu146e, TIN2

MMRRC Submission

043130-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5575 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

55912146-55919277 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 55917631 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 286 (D286G)

Ref Sequence

ENSEMBL: ENSMUSP00000154628 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002397] [ENSMUST00000007733] [ENSMUST00000226314] [ENSMUST00000227842] [ENSMUST00000227178] [ENSMUST00000227873] [ENSMUST00000227914]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000002397

SMART Domains

Protein: ENSMUSP00000002397
Gene: ENSMUSG00000002326

Domain	Start	End	E-Value	Type
IMPDH	8	347	7.5e-147	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000007733
AA Change: D286G

PolyPhen 2 Score 0.145 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000007733
Gene: ENSMUSG00000007589
AA Change: D286G

Domain	Start	End	E-Value	Type
Pfam:TINF2_N	20	159	1.8e-41	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157777

Predicted Effect

probably benign
Transcript: ENSMUST00000226314

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226641

Predicted Effect

probably benign
Transcript: ENSMUST00000226819

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227106

Predicted Effect

probably benign
Transcript: ENSMUST00000227842
AA Change: D286G

PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227996

Predicted Effect

probably benign
Transcript: ENSMUST00000227178

Predicted Effect

probably benign
Transcript: ENSMUST00000227873

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228683

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228264

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227696

Predicted Effect

probably benign
Transcript: ENSMUST00000227914

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.0%

Validation Efficiency

97% (57/59)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of the proteins of the shelterin, or telosome, complex which protects telomeres by allowing the cell to distinguish between telomeres and regions of DNA damage. The protein encoded by this gene is a critical part of shelterin; it interacts with the three DNA-binding proteins of the shelterin complex, and it is important for assembly of the complex. Mutations in this gene cause dyskeratosis congenita (DKC), an inherited bone marrow failure syndrome. [provided by RefSeq, Mar 2010]
PHENOTYPE: Targeted disruption of this gene results in embryonic lethality prior to E7.5 through a mechanism that is independent of telomerase function. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acin1	C	T	14: 54,916,195 (GRCm39)		probably null	Het
Adrm1	T	G	2: 179,817,509 (GRCm39)	D325E	probably benign	Het
Anapc4	T	A	5: 53,013,213 (GRCm39)	V433E	probably damaging	Het
Aplf	A	C	6: 87,623,129 (GRCm39)	C338G	probably benign	Het
Atad5	A	G	11: 79,991,149 (GRCm39)	T681A	probably benign	Het
B9d2	A	G	7: 25,382,757 (GRCm39)	T44A	probably damaging	Het
Catsperg2	T	C	7: 29,405,015 (GRCm39)	K81R	possibly damaging	Het
Cep170b	T	A	12: 112,702,066 (GRCm39)	H286Q	probably damaging	Het
Cfap61	G	A	2: 145,859,313 (GRCm39)	V434I	probably benign	Het
Col5a2	A	T	1: 45,417,642 (GRCm39)	I1311N	probably damaging	Het
Col9a3	A	T	2: 180,240,639 (GRCm39)		probably benign	Het
Dsc2	A	T	18: 20,168,447 (GRCm39)	C671S	probably damaging	Het
Eif5	T	C	12: 111,508,740 (GRCm39)	V245A	probably damaging	Het
Epha5	G	A	5: 84,564,361 (GRCm39)	R2W	probably damaging	Het
Gabrb2	G	A	11: 42,420,365 (GRCm39)		probably benign	Het
Gm3453	A	G	14: 5,978,205 (GRCm38)	V66A	possibly damaging	Het
Gna15	T	C	10: 81,359,707 (GRCm39)	I28V	probably damaging	Het
Hk3	A	T	13: 55,162,583 (GRCm39)	D88E	probably damaging	Het
Hmbox1	T	C	14: 65,060,613 (GRCm39)	T375A	probably benign	Het
Ibsp	A	T	5: 104,457,925 (GRCm39)	E154V	possibly damaging	Het
Il7r	A	G	15: 9,508,273 (GRCm39)	S350P	probably benign	Het
Isx	T	C	8: 75,619,429 (GRCm39)	L207P	probably benign	Het
Krt35	T	C	11: 99,985,450 (GRCm39)	E197G	probably damaging	Het
Krt78	G	A	15: 101,855,787 (GRCm39)	Q675*	probably null	Het
Marchf1	T	A	8: 66,920,962 (GRCm39)	V217E	probably damaging	Het
Mertk	T	C	2: 128,578,485 (GRCm39)	I157T	probably damaging	Het
Mmab	A	T	5: 114,574,832 (GRCm39)	L147Q	probably damaging	Het
Ndst4	T	A	3: 125,231,479 (GRCm39)	V16D	probably benign	Het
Niban1	A	T	1: 151,593,991 (GRCm39)	H892L	probably benign	Het
Ogdhl	T	C	14: 32,047,804 (GRCm39)	L18P	possibly damaging	Het
Pikfyve	A	C	1: 65,312,889 (GRCm39)	H2089P	probably damaging	Het
Plxna1	A	T	6: 89,301,523 (GRCm39)	L1501Q	possibly damaging	Het
Ppp2r5c	T	C	12: 110,519,266 (GRCm39)	F246S	probably damaging	Het
Ptbp2	A	T	3: 119,514,432 (GRCm39)		probably null	Het
Ptbp2	G	A	3: 119,514,438 (GRCm39)	P463L	possibly damaging	Het
Rad51	A	G	2: 118,964,914 (GRCm39)	D274G	probably benign	Het
Ranbp2	T	C	10: 58,328,405 (GRCm39)	V2807A	probably damaging	Het
Rapgef4	G	A	2: 71,864,464 (GRCm39)		probably null	Het
Rp1l1	C	T	14: 64,268,433 (GRCm39)	H1340Y	probably benign	Het
Ryr1	T	A	7: 28,778,118 (GRCm39)	H2133L	possibly damaging	Het
Scgb1c1	G	A	7: 140,426,024 (GRCm39)	G40E	probably damaging	Het
Shank2	T	C	7: 143,963,871 (GRCm39)	I703T	probably damaging	Het
Spag17	G	A	3: 99,961,138 (GRCm39)	A975T	possibly damaging	Het
Supt6	T	C	11: 78,119,787 (GRCm39)	D400G	probably damaging	Het
Synrg	T	C	11: 83,900,378 (GRCm39)		probably null	Het
Thada	A	C	17: 84,723,827 (GRCm39)		probably null	Het
Themis3	A	G	17: 66,862,321 (GRCm39)	S546P	possibly damaging	Het
Tmem67	A	T	4: 12,047,886 (GRCm39)	V815D	possibly damaging	Het
Trpm1	T	C	7: 63,870,018 (GRCm39)	L441P	possibly damaging	Het
Vapa	A	G	17: 65,920,247 (GRCm39)	V16A	probably benign	Het
Vmn2r38	A	T	7: 9,078,635 (GRCm39)	Y582*	probably null	Het
Vps13b	A	T	15: 35,930,065 (GRCm39)	K3934I	probably damaging	Het
Wrn	G	A	8: 33,826,158 (GRCm39)	T168I	probably benign	Het

Other mutations in Tinf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00782:Tinf2	APN	14	55,917,921 (GRCm39)	splice site	probably null
IGL01879:Tinf2	APN	14	55,918,363 (GRCm39)	unclassified	probably benign
IGL03123:Tinf2	APN	14	55,918,346 (GRCm39)	missense	probably damaging	0.99
R0815:Tinf2	UTSW	14	55,917,566 (GRCm39)	missense	probably benign	0.01
R0863:Tinf2	UTSW	14	55,917,566 (GRCm39)	missense	probably benign	0.01
R2862:Tinf2	UTSW	14	55,918,088 (GRCm39)	missense	probably damaging	1.00
R6833:Tinf2	UTSW	14	55,919,037 (GRCm39)	start codon destroyed	probably null	1.00
R7389:Tinf2	UTSW	14	55,918,167 (GRCm39)	splice site	probably null
R8246:Tinf2	UTSW	14	55,917,042 (GRCm39)	missense	probably damaging	0.97
R8368:Tinf2	UTSW	14	55,917,030 (GRCm39)	missense	probably damaging	1.00
R9003:Tinf2	UTSW	14	55,917,859 (GRCm39)	missense	probably benign	0.24

Predicted Primers

PCR Primer
(F):5'- AGAGACCCTTACTCCTGCTCTG -3'
(R):5'- GTCCTCATCAGCAAACCAGG -3'

Sequencing Primer
(F):5'- TCTGCAGCCGGTGAGTCAG -3'
(R):5'- GTCCTCTGCCTAAAGCTAAGC -3'

Posted On

2016-10-26