Mutagenetix > Incidental Mutation

Incidental Mutation 'R0863:Tinf2'

82217

Institutional Source

Beutler Lab

Gene Symbol

Tinf2

Ensembl Gene

ENSMUSG00000007589

Gene Name

Terf1 (TRF1)-interacting nuclear factor 2

Synonyms

D14Wsu146e, TIN2

MMRRC Submission

039037-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0863 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

55912146-55919277 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 55917566 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 308 (P308S)

Ref Sequence

ENSEMBL: ENSMUSP00000154628 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002397] [ENSMUST00000007733] [ENSMUST00000226314] [ENSMUST00000227842] [ENSMUST00000227873] [ENSMUST00000227178] [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: P308S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000007733
Gene: ENSMUSG00000007589
AA Change: P308S

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: P308S

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228683

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228264

Predicted Effect

probably benign
Transcript: ENSMUST00000227873

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227996

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227696

Predicted Effect

probably benign
Transcript: ENSMUST00000227178

Predicted Effect

probably benign
Transcript: ENSMUST00000227914

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.5%
3x: 98.9%
10x: 97.4%
20x: 94.8%

Validation Efficiency

94% (59/63)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310016G11Rik	A	G	7: 44,327,232 (GRCm39)		noncoding transcript	Het
4930433I11Rik	A	T	7: 40,642,480 (GRCm39)	T141S	probably benign	Het
Abca14	A	T	7: 119,815,453 (GRCm39)	T234S	probably benign	Het
Acap1	C	A	11: 69,777,882 (GRCm39)	V119L	probably damaging	Het
Actr2	C	T	11: 20,030,760 (GRCm39)	V163I	probably benign	Het
Adcy4	T	C	14: 56,021,056 (GRCm39)	Y27C	probably damaging	Het
Arnt2	T	A	7: 83,914,792 (GRCm39)	K524M	probably damaging	Het
Brca1	T	C	11: 101,415,596 (GRCm39)	Y846C	probably benign	Het
Capn7	T	A	14: 31,091,714 (GRCm39)	C704S	possibly damaging	Het
Cep350	T	A	1: 155,737,981 (GRCm39)	I2621L	probably benign	Het
Col11a1	G	A	3: 113,932,414 (GRCm39)	R113H	unknown	Het
Ctnnbl1	C	T	2: 157,641,337 (GRCm39)		probably benign	Het
Cul9	T	C	17: 46,848,748 (GRCm39)		probably null	Het
Erc2	A	C	14: 27,747,105 (GRCm39)	N345T	probably benign	Het
Fank1	A	G	7: 133,482,352 (GRCm39)	R73G	possibly damaging	Het
Fes	A	T	7: 80,030,634 (GRCm39)	W552R	probably damaging	Het
Fsd2	A	G	7: 81,191,913 (GRCm39)	V488A	possibly damaging	Het
Gfm1	T	C	3: 67,381,928 (GRCm39)	S705P	probably damaging	Het
Gm9493	A	T	19: 23,597,173 (GRCm39)	Q23L	probably benign	Het
Gucy1b2	T	C	14: 62,656,511 (GRCm39)	D282G	probably benign	Het
H2-Ab1	T	C	17: 34,486,328 (GRCm39)	I129T	probably damaging	Het
H2-M10.3	T	A	17: 36,677,582 (GRCm39)	Y232F	probably damaging	Het
Iqca1	C	A	1: 90,070,453 (GRCm39)	G133V	probably null	Het
Lonp1	T	C	17: 56,925,331 (GRCm39)	K487R	probably damaging	Het
Ltbp1	A	G	17: 75,559,381 (GRCm39)	Y290C	probably damaging	Het
Ms4a10	C	T	19: 10,945,957 (GRCm39)	G58D	probably damaging	Het
Muc5b	A	G	7: 141,421,454 (GRCm39)	S4315G	probably benign	Het
Nlrp1b	T	A	11: 71,072,173 (GRCm39)	T557S	probably benign	Het
Nlrp3	A	G	11: 59,456,676 (GRCm39)	D946G	probably benign	Het
Obscn	T	C	11: 58,886,241 (GRCm39)		probably benign	Het
Oga	C	T	19: 45,771,425 (GRCm39)	A49T	probably benign	Het
Or10ab5	A	G	7: 108,244,865 (GRCm39)	I306T	probably benign	Het
Or5p50	T	C	7: 107,422,581 (GRCm39)	S32G	probably benign	Het
Or7e173	A	T	9: 19,938,509 (GRCm39)	S242T	probably damaging	Het
Pask	A	T	1: 93,242,061 (GRCm39)	F1219I	probably damaging	Het
Pcdhb2	G	A	18: 37,428,710 (GRCm39)	V228I	possibly damaging	Het
Phf1	T	C	17: 27,156,114 (GRCm39)		probably benign	Het
Plec	G	A	15: 76,058,280 (GRCm39)	Q3751*	probably null	Het
Plscr1l1	A	T	9: 92,233,140 (GRCm39)	I88L	possibly damaging	Het
Ppp1r12c	G	T	7: 4,489,365 (GRCm39)	Q240K	probably damaging	Het
Ralgapa1	A	T	12: 55,809,466 (GRCm39)	Y436*	probably null	Het
Ralgapa1	C	A	12: 55,829,562 (GRCm39)		probably benign	Het
Scel	T	A	14: 103,823,916 (GRCm39)	S381R	possibly damaging	Het
Sema4a	C	T	3: 88,355,456 (GRCm39)		probably benign	Het
Sltm	A	G	9: 70,469,190 (GRCm39)	T150A	probably benign	Het
Spag1	G	T	15: 36,192,193 (GRCm39)	K217N	probably damaging	Het
Ssh1	C	T	5: 114,104,792 (GRCm39)	R9H	probably damaging	Het
St3gal4	C	A	9: 34,964,744 (GRCm39)	V155F	probably damaging	Het
Stxbp5	C	T	10: 9,684,784 (GRCm39)	E539K	possibly damaging	Het
Tbc1d7	G	T	13: 43,308,161 (GRCm39)		probably benign	Het
Thnsl2	A	T	6: 71,111,208 (GRCm39)	L220*	probably null	Het
Tnf	T	C	17: 35,420,120 (GRCm39)		probably benign	Het
Ttc21b	T	C	2: 66,073,117 (GRCm39)	I190V	probably benign	Het
Ttn	T	C	2: 76,537,391 (GRCm39)	T34846A	probably benign	Het
Ube4a	A	G	9: 44,861,114 (GRCm39)	V232A	possibly damaging	Het
Uri1	A	T	7: 37,669,100 (GRCm39)	D122E	probably damaging	Het
Vmn2r94	T	G	17: 18,477,973 (GRCm39)	Q146P	probably damaging	Het
Zan	T	A	5: 137,456,901 (GRCm39)	E1278D	unknown	Het
Zfhx4	T	A	3: 5,310,375 (GRCm39)	S919R	possibly damaging	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
R2862:Tinf2	UTSW	14	55,918,088 (GRCm39)	missense	probably damaging	1.00
R5575:Tinf2	UTSW	14	55,917,631 (GRCm39)	missense	probably benign	0.23
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'- CTTGACTGTAAGAGGCGGTGATGAG -3'
(R):5'- AGCGAAAATCCCGATCACATTGGAC -3'

Sequencing Primer
(F):5'- CACACTGTTCCTGAGGTGAAG -3'
(R):5'- CGATCACATTGGACATCGGC -3'

Posted On

2013-11-08