Mutagenetix > Incidental Mutation

Incidental Mutation 'R6969:Tti2'

543385

Institutional Source

Beutler Lab

Gene Symbol

Tti2

Ensembl Gene

ENSMUSG00000031577

Gene Name

TELO2 interacting protein 2

Synonyms

BC019943

MMRRC Submission

045079-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6969 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

31640344-31654731 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 31644329 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 309 (I309V)

Ref Sequence

ENSEMBL: ENSMUSP00000147956 (fasta)

Gene Model

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

AlphaFold

Q8BGV4

Predicted Effect

probably benign
Transcript: ENSMUST00000098842
AA Change: I309V

PolyPhen 2 Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000096441
Gene: ENSMUSG00000031577
AA Change: I309V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000209851
AA Change: I309V

PolyPhen 2 Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

probably benign
Transcript: ENSMUST00000209986
AA Change: I309V

PolyPhen 2 Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000210129
AA Change: I309V

PolyPhen 2 Score 0.496 (Sensitivity: 0.88; Specificity: 0.90)

Coding Region Coverage

1x: 100.0%
3x: 99.8%
10x: 99.0%
20x: 96.1%

Validation Efficiency

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	T	A	6: 86,958,317 (GRCm39)	L800H	unknown	Het
Ap2b1	T	A	11: 83,280,552 (GRCm39)	D788E	probably damaging	Het
Arfgef1	G	T	1: 10,223,904 (GRCm39)	Q1465K	probably damaging	Het
Arfgef1	T	C	1: 10,223,903 (GRCm39)	Q1465R	probably damaging	Het
Arhgap9	G	A	10: 127,162,512 (GRCm39)	E348K	probably benign	Het
B4galnt2	A	T	11: 95,782,756 (GRCm39)	F19I	probably benign	Het
Bdp1	A	T	13: 100,211,039 (GRCm39)	I551N	probably damaging	Het
Ceacam16	A	G	7: 19,586,230 (GRCm39)	*427Q	probably null	Het
Chd9	A	C	8: 91,705,542 (GRCm39)	Q260P	probably benign	Het
Col16a1	A	T	4: 129,986,880 (GRCm39)		probably benign	Het
Csmd1	A	T	8: 17,266,805 (GRCm39)	N40K	possibly damaging	Het
Depdc5	T	G	5: 33,141,204 (GRCm39)	V1368G	probably damaging	Het
Dnah7b	C	A	1: 46,397,398 (GRCm39)	P3943Q	probably damaging	Het
Dnttip2	A	G	3: 122,076,141 (GRCm39)	Q691R	probably damaging	Het
Dusp10	T	C	1: 183,801,085 (GRCm39)	L284P	probably damaging	Het
Efr3b	A	G	12: 4,018,624 (GRCm39)	V574A	probably benign	Het
Erc2	A	T	14: 27,620,553 (GRCm39)	I60F	probably damaging	Het
Exoc2	A	G	13: 31,095,161 (GRCm39)	V245A	probably benign	Het
Fasl	G	T	1: 161,609,244 (GRCm39)	F37L	probably damaging	Het
Fat3	G	A	9: 15,941,212 (GRCm39)	P1360S	probably benign	Het
Gpsm1	C	T	2: 26,230,555 (GRCm39)	P502S	probably benign	Het
Gtpbp10	C	A	5: 5,605,331 (GRCm39)	G124V	probably damaging	Het
Insm2	T	C	12: 55,646,963 (GRCm39)	C236R	probably damaging	Het
Irf2bpl	A	G	12: 86,929,468 (GRCm39)	Y402H	possibly damaging	Het
Irx6	A	G	8: 93,403,958 (GRCm39)	E175G	probably damaging	Het
Kcnh8	C	T	17: 53,184,971 (GRCm39)	R418*	probably null	Het
Kif3c	G	A	12: 3,416,114 (GRCm39)	R45Q	probably benign	Het
Larp7-ps	A	G	4: 92,079,826 (GRCm39)	I54T	probably damaging	Het
Lpin1	A	G	12: 16,630,862 (GRCm39)	F12S	probably damaging	Het
Lrba	A	T	3: 86,526,897 (GRCm39)	T156S	probably benign	Het
Lrrc19	G	T	4: 94,527,610 (GRCm39)	N200K	probably benign	Het
Lrrc7	G	A	3: 157,862,550 (GRCm39)	H1296Y	probably benign	Het
Ltn1	A	T	16: 87,212,578 (GRCm39)	F661Y	probably damaging	Het
Macf1	T	C	4: 123,351,593 (GRCm39)	Y1893C	probably benign	Het
Mmd	G	C	11: 90,148,362 (GRCm39)	A15P	probably damaging	Het
Myh2	T	C	11: 67,088,092 (GRCm39)	F1903L	probably benign	Het
Myom3	T	C	4: 135,528,371 (GRCm39)	L1072P	probably damaging	Het
Or13l2	A	T	3: 97,318,118 (GRCm39)	Y126*	probably null	Het
Or56a41	T	C	7: 104,740,463 (GRCm39)	I128V	probably benign	Het
Or5bw2	G	A	7: 6,573,320 (GRCm39)	C110Y	probably damaging	Het
Or7g35	A	T	9: 19,495,886 (GRCm39)	T18S	possibly damaging	Het
Patl2	A	T	2: 121,959,410 (GRCm39)	V18D	possibly damaging	Het
Pkn1	T	C	8: 84,410,055 (GRCm39)	S395G	probably damaging	Het
Ptprm	A	G	17: 67,219,413 (GRCm39)	I726T	possibly damaging	Het
Rab3gap2	T	C	1: 184,968,209 (GRCm39)	L187P	probably damaging	Het
Ric1	A	T	19: 29,563,182 (GRCm39)	E535V	probably damaging	Het
Ripor3	T	C	2: 167,827,657 (GRCm39)	K598R	probably benign	Het
Rnf40	A	G	7: 127,195,495 (GRCm39)	E607G	possibly damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Sbsn	A	G	7: 30,452,616 (GRCm39)	T544A	probably benign	Het
Scaf1	C	A	7: 44,657,253 (GRCm39)		probably benign	Het
Sec24a	T	C	11: 51,591,643 (GRCm39)	M1018V	probably benign	Het
Shmt1	C	T	11: 60,695,153 (GRCm39)	A54T	probably damaging	Het
Slc39a14	C	A	14: 70,546,275 (GRCm39)	V383F	probably damaging	Het
Slc5a2	A	G	7: 127,871,249 (GRCm39)	T346A	probably benign	Het
Slco4a1	G	A	2: 180,106,601 (GRCm39)	S261N	probably benign	Het
Smarcc1	C	G	9: 110,025,388 (GRCm39)	S688R	probably damaging	Het
Sppl2b	G	A	10: 80,700,959 (GRCm39)	A314T	probably damaging	Het
Sptb	A	T	12: 76,654,781 (GRCm39)	V1513E	probably damaging	Het
Stx17	A	T	4: 48,140,462 (GRCm39)	I56F	probably damaging	Het
Tbc1d9	A	G	8: 83,968,171 (GRCm39)	Y424C	probably damaging	Het
Tgm3	A	G	2: 129,883,949 (GRCm39)	K536E	probably benign	Het
Tymp	G	A	15: 89,258,251 (GRCm39)	S334L	probably benign	Het
Unc13b	T	C	4: 43,263,538 (GRCm39)	F1587L	possibly damaging	Het
Vgf	G	T	5: 137,060,507 (GRCm39)		probably benign	Het
Zfp59	T	C	7: 27,552,922 (GRCm39)	S125P	probably damaging	Het
Zfp641	A	T	15: 98,188,448 (GRCm39)	M144K	possibly damaging	Het
Zfp93	A	T	7: 23,974,806 (GRCm39)	K264*	probably null	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
R6522:Tti2	UTSW	8	31,643,631 (GRCm39)	missense	probably null	0.01
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'- AAGTCGAGAGTGGCTTTACTGAG -3'
(R):5'- ATGCATGCAGACAAAACCTG -3'

Sequencing Primer
(F):5'- ACTGAGTCTCTGTGTACTCGTATC -3'
(R):5'- ACAAAACCTGGGTTGCTCTG -3'

Posted On

2018-11-28