Mutagenetix > Incidental Mutation

Incidental Mutation 'R6522:Tti2'

521382

Institutional Source

Beutler Lab

Gene Symbol

Tti2

Ensembl Gene

ENSMUSG00000031577

Gene Name

TELO2 interacting protein 2

Synonyms

BC019943

MMRRC Submission

044648-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6522 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

31640344-31654731 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 31643631 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 249 (I249V)

Ref Sequence

ENSEMBL: ENSMUSP00000147956 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098842] [ENSMUST00000209851] [ENSMUST00000209986] [ENSMUST00000210129]

AlphaFold

Q8BGV4

Predicted Effect

probably null
Transcript: ENSMUST00000098842
AA Change: I249V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000096441
Gene: ENSMUSG00000031577
AA Change: I249V

Domain	Start	End	E-Value	Type
Pfam:DUF2454	208	397	7.1e-17	PFAM
low complexity region	426	436	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157627

Predicted Effect

probably null
Transcript: ENSMUST00000209851
AA Change: I249V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

probably benign
Transcript: ENSMUST00000209986
AA Change: I249V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

probably null
Transcript: ENSMUST00000210129
AA Change: I249V

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.8%
20x: 93.3%

Validation Efficiency

100% (56/56)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a regulator of the DNA damage response. The protein is a component of the Triple T complex (TTT) which also includes telomere length regulation protein and TELO2 interacting protein 1. The TTT complex is involved in cellular resistance to DNA damage stresses and may act as a regulator of phosphoinositide-3-kinase-related protein kinase (PIKK) abundance. [provided by RefSeq, May 2013]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	C	A	10: 10,253,636 (GRCm39)	E1209*	probably null	Het
Adgrg5	G	T	8: 95,668,696 (GRCm39)	R503L	probably benign	Het
Anks1b	C	T	10: 90,733,189 (GRCm39)		probably benign	Het
Anxa5	A	T	3: 36,519,451 (GRCm39)	F13I	probably damaging	Het
Bicd1	A	G	6: 149,385,503 (GRCm39)	I79V	probably benign	Het
Bnip1	A	G	17: 27,008,719 (GRCm39)	D107G	probably damaging	Het
Ccdc42	A	G	11: 68,479,046 (GRCm39)	E78G	probably damaging	Het
Ccnk	A	G	12: 108,153,446 (GRCm39)	D69G	probably damaging	Het
Clec2i	G	T	6: 128,870,692 (GRCm39)	V77F	probably damaging	Het
Clec4g	A	C	8: 3,768,803 (GRCm39)	V62G	probably benign	Het
Col4a4	G	A	1: 82,465,304 (GRCm39)	A957V	unknown	Het
Csnk1d	A	G	11: 120,862,449 (GRCm39)	F277L	probably damaging	Het
Dip2c	G	A	13: 9,625,264 (GRCm39)		probably null	Het
Dpf2	T	A	19: 5,955,560 (GRCm39)	K108*	probably null	Het
Dync1h1	G	A	12: 110,583,171 (GRCm39)	D423N	probably damaging	Het
Fbxl13	T	C	5: 21,766,554 (GRCm39)		probably null	Homo
Flad1	T	C	3: 89,310,490 (GRCm39)	R488G	probably damaging	Het
Galnt6	A	C	15: 100,591,236 (GRCm39)	*623E	probably null	Het
Gtf2e1	T	C	16: 37,331,816 (GRCm39)	T420A	possibly damaging	Het
Hspg2	T	C	4: 137,282,586 (GRCm39)	V3442A	probably damaging	Het
Itpr1	A	G	6: 108,365,237 (GRCm39)	D55G	probably damaging	Het
Kdm2a	C	A	19: 4,374,854 (GRCm39)	R759L	possibly damaging	Het
Kif19a	A	G	11: 114,676,605 (GRCm39)	E478G	probably damaging	Het
Lamb3	G	A	1: 193,017,761 (GRCm39)	V881I	probably benign	Het
Map3k6	T	C	4: 132,977,335 (GRCm39)	L894P	possibly damaging	Het
Mast4	A	G	13: 102,897,801 (GRCm39)		probably null	Het
Mst1r	G	A	9: 107,790,438 (GRCm39)	V684M	probably benign	Het
Naa15	T	C	3: 51,378,935 (GRCm39)	S727P	probably damaging	Het
Nap1l1	T	C	10: 111,330,084 (GRCm39)	L330S	probably damaging	Het
Nav2	A	G	7: 49,247,281 (GRCm39)	T2205A	probably damaging	Het
Ncf2	T	C	1: 152,703,214 (GRCm39)		probably null	Het
Opa1	T	A	16: 29,444,332 (GRCm39)	N839K	probably benign	Het
Or4c104	T	C	2: 88,586,452 (GRCm39)	D189G	probably damaging	Het
Or52a33	T	C	7: 103,288,504 (GRCm39)	Y281C	probably damaging	Het
Or52n4b	G	A	7: 108,144,202 (GRCm39)	V155I	probably benign	Het
Pcdha7	T	C	18: 37,106,995 (GRCm39)	Y7H	possibly damaging	Het
Pcdhb15	T	C	18: 37,607,314 (GRCm39)	V182A	probably benign	Het
Phf10	A	T	17: 15,176,269 (GRCm39)	I128N	probably damaging	Het
Plce1	T	A	19: 38,736,965 (GRCm39)		probably null	Het
Plxnb2	T	C	15: 89,048,629 (GRCm39)	N626S	probably benign	Het
Prh1	G	A	6: 132,548,996 (GRCm39)	G168R	unknown	Het
Prss51	A	G	14: 64,334,855 (GRCm39)	T137A	possibly damaging	Het
Ptprcap	C	T	19: 4,206,183 (GRCm39)	R89C	possibly damaging	Het
Scfd1	A	G	12: 51,478,324 (GRCm39)	K512R	probably benign	Het
Serpina1b	A	C	12: 103,701,296 (GRCm39)		probably null	Het
Setbp1	T	C	18: 78,900,605 (GRCm39)	T1021A	probably damaging	Het
Slco1b2	G	A	6: 141,601,145 (GRCm39)		probably null	Het
Snrnp200	C	T	2: 127,063,747 (GRCm39)	T642I	probably benign	Het
Tenm4	A	C	7: 96,492,251 (GRCm39)	I1063L	possibly damaging	Het
Tfb2m	G	A	1: 179,373,611 (GRCm39)	A29V	probably benign	Het
Tfeb	T	C	17: 48,100,627 (GRCm39)	V140A	probably damaging	Het
Tmem104	A	T	11: 115,134,579 (GRCm39)	I372F	probably damaging	Het
Tmem132d	G	T	5: 127,860,832 (GRCm39)	H1096Q	probably benign	Het
Trim12c	A	T	7: 103,997,531 (GRCm39)	N8K	probably benign	Het
Vps8	T	A	16: 21,261,129 (GRCm39)	L90I	probably damaging	Het
Vwf	A	T	6: 125,639,926 (GRCm39)		probably null	Het
Wdfy4	A	G	14: 32,868,901 (GRCm39)	S376P	probably damaging	Het

Other mutations in Tti2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02005:Tti2	APN	8	31,645,858 (GRCm39)	missense	probably damaging	1.00
IGL02118:Tti2	APN	8	31,645,537 (GRCm39)	splice site	probably null
IGL02640:Tti2	APN	8	31,645,942 (GRCm39)	missense	probably damaging	1.00
IGL02884:Tti2	APN	8	31,641,505 (GRCm39)	missense	possibly damaging	0.73
PIT4366001:Tti2	UTSW	8	31,641,224 (GRCm39)	missense	probably benign	0.00
R2062:Tti2	UTSW	8	31,644,338 (GRCm39)	splice site	probably benign
R2081:Tti2	UTSW	8	31,641,337 (GRCm39)	missense	possibly damaging	0.46
R2089:Tti2	UTSW	8	31,644,294 (GRCm39)	missense	probably damaging	1.00
R2091:Tti2	UTSW	8	31,644,294 (GRCm39)	missense	probably damaging	1.00
R2091:Tti2	UTSW	8	31,644,294 (GRCm39)	missense	probably damaging	1.00
R2301:Tti2	UTSW	8	31,645,823 (GRCm39)	missense	probably benign	0.03
R3735:Tti2	UTSW	8	31,645,925 (GRCm39)	missense	probably damaging	1.00
R3875:Tti2	UTSW	8	31,641,175 (GRCm39)	missense	probably benign
R3916:Tti2	UTSW	8	31,643,547 (GRCm39)	missense	possibly damaging	0.94
R3917:Tti2	UTSW	8	31,643,547 (GRCm39)	missense	possibly damaging	0.94
R4827:Tti2	UTSW	8	31,640,998 (GRCm39)	missense	probably benign	0.06
R6969:Tti2	UTSW	8	31,644,329 (GRCm39)	missense	possibly damaging	0.50
R9036:Tti2	UTSW	8	31,645,814 (GRCm39)	missense	probably damaging	1.00
R9255:Tti2	UTSW	8	31,645,570 (GRCm39)	missense	probably damaging	1.00
R9295:Tti2	UTSW	8	31,643,550 (GRCm39)	nonsense	probably null
R9688:Tti2	UTSW	8	31,644,279 (GRCm39)	missense	probably damaging	1.00
R9774:Tti2	UTSW	8	31,645,660 (GRCm39)	missense	probably damaging	1.00
X0004:Tti2	UTSW	8	31,645,899 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- TCGGAGATATACACATACGGATAC -3'
(R):5'- AAGCCACTCTCGACTTCTGC -3'

Sequencing Primer
(F):5'- TCCGTTAAAGACAAGAGGAGG -3'
(R):5'- GAAGAGTCTCCTTCAGTAACATTTTC -3'

Posted On

2018-06-06