Mutagenetix > Incidental Mutation

Incidental Mutation 'R3916:Tti2'

309742

Institutional Source

Beutler Lab

Gene Symbol

Tti2

Ensembl Gene

ENSMUSG00000031577

Gene Name

TELO2 interacting protein 2

Synonyms

BC019943

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3916 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

31640344-31654731 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 31643547 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 221 (K221E)

Ref Sequence

ENSEMBL: ENSMUSP00000147956 (fasta)

Gene Model

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

AlphaFold

Q8BGV4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098842
AA Change: K221E

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000096441
Gene: ENSMUSG00000031577
AA Change: K221E

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

possibly damaging
Transcript: ENSMUST00000209851
AA Change: K221E

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000209986
AA Change: K221E

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000210129
AA Change: K221E

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)

Meta Mutation Damage Score

0.1612

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	T	G	2: 68,562,329 (GRCm39)	F319V	possibly damaging	Het
Acad12	A	G	5: 121,737,277 (GRCm39)	V498A	probably damaging	Het
Adam19	A	G	11: 45,951,762 (GRCm39)	E37G	probably benign	Het
Anks3	A	G	16: 4,765,143 (GRCm39)	Y423H	probably damaging	Het
Arfgef1	A	T	1: 10,259,668 (GRCm39)	V600D	probably benign	Het
Arhgef18	T	C	8: 3,504,197 (GRCm39)	F939L	probably benign	Het
Arhgef2	A	G	3: 88,540,340 (GRCm39)	N127S	probably damaging	Het
Arid1b	A	G	17: 5,392,928 (GRCm39)	S2100G	probably benign	Het
Atp1b2	A	G	11: 69,493,901 (GRCm39)	V93A	probably damaging	Het
Atrnl1	T	C	19: 57,924,084 (GRCm39)	V1283A	possibly damaging	Het
Bpifb5	A	C	2: 154,070,101 (GRCm39)	K184Q	probably benign	Het
Cadps	C	T	14: 12,457,702 (GRCm38)	A1060T	probably benign	Het
Cant1	A	G	11: 118,299,572 (GRCm39)	V259A	probably damaging	Het
Ccdc89	A	G	7: 90,076,033 (GRCm39)	D81G	probably damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Cntnap4	C	G	8: 113,602,165 (GRCm39)	P1190A	probably benign	Het
Colgalt2	T	A	1: 152,384,362 (GRCm39)	Y567*	probably null	Het
Cyp4f18	A	T	8: 72,749,881 (GRCm39)	F256Y	probably benign	Het
Ddx41	G	A	13: 55,682,293 (GRCm39)	R205W	possibly damaging	Het
Dop1a	G	A	9: 86,403,186 (GRCm39)	R1462H	probably damaging	Het
Dync1i2	A	G	2: 71,079,716 (GRCm39)	T377A	probably damaging	Het
F2	G	A	2: 91,455,833 (GRCm39)	T600M	probably damaging	Het
Fam91a1	C	T	15: 58,302,583 (GRCm39)	H308Y	probably damaging	Het
Fkbp2	C	A	19: 6,955,925 (GRCm39)		probably null	Het
Gabarapl2	T	A	8: 112,679,028 (GRCm39)	F115L	probably benign	Het
Heatr3	T	G	8: 88,876,999 (GRCm39)		probably null	Het
Ifi204	T	G	1: 173,583,341 (GRCm39)	K292N	possibly damaging	Het
Itpkc	A	T	7: 26,927,728 (GRCm39)	I62N	probably benign	Het
Kcnab1	G	A	3: 65,211,585 (GRCm39)		probably null	Het
Krt88	G	A	15: 101,350,809 (GRCm39)		probably null	Het
Larp4	C	T	15: 99,888,284 (GRCm39)	T107I	probably benign	Het
Lmo7	T	C	14: 102,166,778 (GRCm39)		probably benign	Het
Lrrc37a	T	C	11: 103,346,344 (GRCm39)	Y3174C	possibly damaging	Het
Lyzl4	T	A	9: 121,412,101 (GRCm39)	D105V	probably damaging	Het
Mst1	A	G	9: 107,961,494 (GRCm39)	I575V	probably benign	Het
Myh7	C	A	14: 55,211,503 (GRCm39)	E1555D	probably damaging	Het
Nwd1	T	A	8: 73,394,439 (GRCm39)	C608*	probably null	Het
Obox3	C	A	7: 15,361,151 (GRCm39)	C38F	probably benign	Het
P4ha2	A	G	11: 54,017,074 (GRCm39)	D441G	probably benign	Het
Pcdhb14	A	T	18: 37,581,598 (GRCm39)	I235F	possibly damaging	Het
Rasgrf2	A	G	13: 92,167,296 (GRCm39)	V259A	probably damaging	Het
Scn1a	T	C	2: 66,107,957 (GRCm39)	T1590A	probably damaging	Het
Sdk1	T	A	5: 142,036,999 (GRCm39)	D817E	probably damaging	Het
Sema3b	A	G	9: 107,477,657 (GRCm39)	F482S	probably damaging	Het
Slc35a5	G	C	16: 44,978,521 (GRCm39)		probably benign	Het
Slc6a3	A	G	13: 73,710,427 (GRCm39)	I346V	probably benign	Het
Slu7	G	T	11: 43,331,511 (GRCm39)		probably null	Het
Spns1	A	T	7: 125,970,711 (GRCm39)		probably null	Het
Supv3l1	T	C	10: 62,285,199 (GRCm39)	D89G	possibly damaging	Het
Taf1c	G	A	8: 120,327,244 (GRCm39)	R412W	probably damaging	Het
Tctn3	T	A	19: 40,596,093 (GRCm39)	T305S	possibly damaging	Het
Tekt1	A	G	11: 72,236,574 (GRCm39)	I296T	possibly damaging	Het
Tet2	T	C	3: 133,191,816 (GRCm39)	K873E	possibly damaging	Het
Thada	G	A	17: 84,749,210 (GRCm39)	A587V	possibly damaging	Het
Tmprss15	T	A	16: 78,782,884 (GRCm39)	N712Y	probably damaging	Het
Tnks	A	G	8: 35,320,515 (GRCm39)	S719P	probably damaging	Het
Tnrc6a	A	C	7: 122,780,607 (GRCm39)	Q1332H	probably damaging	Het
Trpv3	A	G	11: 73,174,560 (GRCm39)	D309G	possibly damaging	Het
Uba5	A	T	9: 103,931,389 (GRCm39)	C227S	probably damaging	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Unc80	T	C	1: 66,716,654 (GRCm39)	C2925R	probably benign	Het
Vmn2r83	G	A	10: 79,314,744 (GRCm39)	G331R	probably benign	Het
Xirp2	G	T	2: 67,341,766 (GRCm39)	V1336F	probably benign	Het
Zbed5	T	C	5: 129,931,118 (GRCm39)	Y356H	possibly 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
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
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'- CAAGTTTGGACAACTGACAAGTG -3'
(R):5'- AACCACAATGTGATGGAGGCAC -3'

Sequencing Primer
(F):5'- TTTGGACAACTGACAAGTGTATATAG -3'
(R):5'- TGATGGAGGCACTGGACACC -3'

Posted On

2015-04-17