Mutagenetix > Incidental Mutation

Incidental Mutation 'R3735:Tti2'

270073

Institutional Source

Beutler Lab

Gene Symbol

Tti2

Ensembl Gene

ENSMUSG00000031577

Gene Name

TELO2 interacting protein 2

Synonyms

BC019943

MMRRC Submission

040722-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3735 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

31640344-31654731 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 31645925 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 413 (L413P)

Ref Sequence

ENSEMBL: ENSMUSP00000147956 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033983] [ENSMUST00000098842] [ENSMUST00000209851] [ENSMUST00000209986] [ENSMUST00000210129]

AlphaFold

Q8BGV4

Predicted Effect

probably benign
Transcript: ENSMUST00000033983

SMART Domains

Protein: ENSMUSP00000033983
Gene: ENSMUSG00000031578

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_L28e	6	119	5e-40	PFAM
Pfam:Mak16	138	235	4.7e-36	PFAM
low complexity region	242	256	N/A	INTRINSIC
low complexity region	258	272	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000098842
AA Change: L413P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000096441
Gene: ENSMUSG00000031577
AA Change: L413P

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 damaging
Transcript: ENSMUST00000209851
AA Change: L413P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000209986
AA Change: L413P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000210129
AA Change: L413P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Meta Mutation Damage Score

0.1581

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.3%

Validation Efficiency

100% (71/71)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	C	G	4: 103,123,603 (GRCm39)	E90Q	probably damaging	Het
Acadl	G	A	1: 66,892,448 (GRCm39)	A125V	probably benign	Het
Acot12	T	A	13: 91,932,465 (GRCm39)	I487N	probably benign	Het
Acox3	A	G	5: 35,768,497 (GRCm39)	K686R	probably benign	Het
Adam17	T	C	12: 21,375,413 (GRCm39)	D802G	probably benign	Het
Aoc3	A	T	11: 101,223,045 (GRCm39)	D427V	probably damaging	Het
Bivm	C	T	1: 44,165,594 (GRCm39)	H15Y	probably benign	Het
C8a	T	C	4: 104,674,812 (GRCm39)	E509G	probably benign	Het
Ccdc158	A	C	5: 92,780,283 (GRCm39)	L930R	possibly damaging	Het
Cdca7	T	A	2: 72,314,209 (GRCm39)		probably null	Het
Cep170b	A	T	12: 112,707,438 (GRCm39)	I395F	probably damaging	Het
Champ1	T	C	8: 13,928,735 (GRCm39)	S298P	probably damaging	Het
Cimip2c	A	T	5: 30,639,442 (GRCm39)	Y123F	probably benign	Het
Cyp2j8	T	A	4: 96,332,836 (GRCm39)	R503S	probably damaging	Het
Dcaf10	C	T	4: 45,348,117 (GRCm39)	T191I	probably benign	Het
Dido1	A	G	2: 180,325,829 (GRCm39)		probably benign	Het
Dnah7b	C	T	1: 46,339,035 (GRCm39)	T3361I	probably benign	Het
Dync1h1	G	A	12: 110,598,109 (GRCm39)	V1767I	probably benign	Het
Eml5	G	A	12: 98,822,248 (GRCm39)	T721I	possibly damaging	Het
F8	G	A	X: 74,254,981 (GRCm39)	P2138S	probably damaging	Het
Fam169b	G	T	7: 68,000,049 (GRCm39)	R198S	probably damaging	Het
Gm7694	A	G	1: 170,130,330 (GRCm39)	S23P	probably damaging	Het
Grk3	T	A	5: 113,101,697 (GRCm39)	T248S	probably benign	Het
Helq	T	G	5: 100,938,054 (GRCm39)	D464A	possibly damaging	Het
Ido2	C	T	8: 25,025,209 (GRCm39)	V273M	probably damaging	Het
Il12rb1	T	C	8: 71,269,862 (GRCm39)	L518P	probably damaging	Het
Irag2	G	A	6: 145,106,596 (GRCm39)		probably benign	Het
Kansl1l	A	G	1: 66,840,409 (GRCm39)	V297A	possibly damaging	Het
Kcnj10	A	G	1: 172,197,533 (GRCm39)	Y349C	possibly damaging	Het
Krt18	A	G	15: 101,936,936 (GRCm39)	T75A	probably benign	Het
Lrp4	A	T	2: 91,328,716 (GRCm39)	I1539F	probably damaging	Het
Map3k6	T	C	4: 132,973,683 (GRCm39)	V458A	probably benign	Het
Med12l	T	A	3: 58,998,916 (GRCm39)	H614Q	probably damaging	Het
Med13	A	C	11: 86,170,484 (GRCm39)	M1850R	probably benign	Het
Mfsd13a	A	G	19: 46,356,767 (GRCm39)	Y256C	probably damaging	Het
Mogs	C	A	6: 83,093,757 (GRCm39)	T242K	possibly damaging	Het
Myo9b	T	C	8: 71,801,241 (GRCm39)	V1133A	probably benign	Het
Myom2	A	T	8: 15,119,676 (GRCm39)	H144L	probably benign	Het
Ncapg	A	T	5: 45,853,469 (GRCm39)	Q906L	probably benign	Het
Nkx1-1	C	T	5: 33,591,074 (GRCm39)	V83I	unknown	Het
Npy4r	T	A	14: 33,869,226 (GRCm39)	T21S	probably benign	Het
Nup88	A	G	11: 70,847,018 (GRCm39)	S331P	probably damaging	Het
Olr1	T	A	6: 129,476,838 (GRCm39)		probably benign	Het
Or4k44	T	A	2: 111,368,241 (GRCm39)	H131L	probably damaging	Het
Osmr	A	T	15: 6,851,561 (GRCm39)	Y656N	probably damaging	Het
Otogl	A	T	10: 107,735,390 (GRCm39)	Y131*	probably null	Het
Pgr	G	A	9: 8,901,534 (GRCm39)	G356S	probably damaging	Het
Prdm2	T	C	4: 142,860,929 (GRCm39)	E787G	probably damaging	Het
Prpf18	A	G	2: 4,648,484 (GRCm39)	I114T	probably benign	Het
R3hdm2	T	A	10: 127,300,879 (GRCm39)	I280N	probably benign	Het
Rims4	T	C	2: 163,705,905 (GRCm39)	D243G	possibly damaging	Het
Rmnd5a	T	C	6: 71,373,846 (GRCm39)	D316G	possibly damaging	Het
Rpap2	T	C	5: 107,803,017 (GRCm39)		probably benign	Het
Sdr16c5	G	A	4: 4,005,614 (GRCm39)	T240I	probably benign	Het
Shroom3	T	C	5: 93,112,303 (GRCm39)	V1888A	possibly damaging	Het
Slc36a4	T	A	9: 15,649,569 (GRCm39)	Y466*	probably null	Het
Slco3a1	A	G	7: 74,154,245 (GRCm39)	I80T	probably damaging	Het
Sptlc2	G	A	12: 87,388,339 (GRCm39)	A381V	probably benign	Het
Stam	A	T	2: 14,133,823 (GRCm39)	Q190L	probably damaging	Het
Suclg2	T	A	6: 95,474,677 (GRCm39)	I363F	probably damaging	Het
Tacstd2	A	G	6: 67,511,843 (GRCm39)	V283A	probably damaging	Het
Tln1	G	T	4: 43,549,370 (GRCm39)	A616E	probably damaging	Het
Trdmt1	A	T	2: 13,524,684 (GRCm39)	F257Y	possibly damaging	Het
Trip12	TATACATACATACATACATACATACATACATAC	TATACATACATACATACATACATACATACATACATAC	1: 84,792,511 (GRCm39)		probably null	Het
Trps1	A	G	15: 50,709,456 (GRCm39)	I298T	possibly damaging	Het
Utrn	A	G	10: 12,354,228 (GRCm39)	V343A	probably damaging	Het
Vwf	G	T	6: 125,565,576 (GRCm39)	W288L	probably damaging	Het
Zfp629	T	A	7: 127,211,950 (GRCm39)		probably benign	Het
Zfp873	G	A	10: 81,897,015 (GRCm39)	S582N	probably benign	Het
Zfp979	A	G	4: 147,697,939 (GRCm39)	Y257H	possibly damaging	Het
Zfpm1	G	A	8: 123,050,475 (GRCm39)	C117Y	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
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
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'- AGCCTTCGTGAAGAGGTGAG -3'
(R):5'- AGAAAGGCTCACATGTAAACATCTG -3'

Sequencing Primer
(F):5'- GGCCTCTGCTCTGCCATATAC -3'
(R):5'- GGCTCACATGTAAACATCTGAAGTAG -3'

Posted On

2015-03-18