Mutagenetix > Incidental Mutation

Incidental Mutation 'R9255:Tti2'

701810

Institutional Source

Beutler Lab

Gene Symbol

Tti2

Ensembl Gene

ENSMUSG00000031577

Gene Name

TELO2 interacting protein 2

Synonyms

BC019943

MMRRC Submission

068961-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9255 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

31640344-31654731 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 31645570 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 320 (F320Y)

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: F320Y

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000096441
Gene: ENSMUSG00000031577
AA Change: F320Y

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: F320Y

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000209986
AA Change: F320Y

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000210129
AA Change: F320Y

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	G	6: 121,626,795 (GRCm39)	Y549C	probably damaging	Het
Abca13	A	C	11: 9,278,213 (GRCm39)	N3131T	probably damaging	Het
Acap3	T	C	4: 155,990,145 (GRCm39)	V775A	probably benign	Het
Actn3	T	A	19: 4,921,820 (GRCm39)	I149F	probably damaging	Het
Adcy2	A	T	13: 69,036,199 (GRCm39)	M154K	possibly damaging	Het
Agbl1	A	T	7: 76,416,150 (GRCm39)	M976L	unknown	Het
Agbl3	T	A	6: 34,789,840 (GRCm39)	M531K	probably damaging	Het
Armc8	A	C	9: 99,379,441 (GRCm39)	M495R	possibly damaging	Het
Astn2	T	A	4: 65,563,085 (GRCm39)	K899*	probably null	Het
Atp10b	T	A	11: 43,107,148 (GRCm39)	H727Q	probably damaging	Het
Bach1	A	G	16: 87,519,401 (GRCm39)	I564V	possibly damaging	Het
Bean1	CT	C	8: 104,908,664 (GRCm39)		probably null	Het
Ccdc136	T	A	6: 29,409,237 (GRCm39)	H183Q	probably benign	Het
Celf3	T	C	3: 94,392,594 (GRCm39)	F98L	probably benign	Het
Chrd	G	A	16: 20,558,801 (GRCm39)	C845Y	probably damaging	Het
Clec1a	T	G	6: 129,409,208 (GRCm39)	K139N	probably benign	Het
Cntln	T	G	4: 85,019,103 (GRCm39)	N130K	possibly damaging	Het
Cog1	A	T	11: 113,547,019 (GRCm39)	T538S	probably benign	Het
Cog8	A	G	8: 107,779,383 (GRCm39)	I298T	probably damaging	Het
Dio1	A	T	4: 107,164,102 (GRCm39)	W72R	probably damaging	Het
Elapor1	T	C	3: 108,376,864 (GRCm39)	R453G	probably damaging	Het
Exph5	T	A	9: 53,284,609 (GRCm39)	N563K	possibly damaging	Het
Foxn1	C	A	11: 78,252,399 (GRCm39)	E330*	probably null	Het
Fzd7	G	T	1: 59,522,495 (GRCm39)	R126L	possibly damaging	Het
Gmnn	A	G	13: 24,937,351 (GRCm39)	Y147H	probably benign	Het
Gpa33	A	G	1: 165,980,186 (GRCm39)	N83S	probably benign	Het
Hdac4	A	G	1: 91,889,173 (GRCm39)		probably null	Het
Hydin	A	G	8: 111,261,972 (GRCm39)	D2691G	probably benign	Het
Ifi203	A	T	1: 173,756,787 (GRCm39)	I332N	unknown	Het
Inpp1	A	G	1: 52,829,306 (GRCm39)	S238P	probably benign	Het
Jmy	A	G	13: 93,589,894 (GRCm39)		probably null	Het
Kcnab3	C	T	11: 69,222,337 (GRCm39)	Q327*	probably null	Het
Kctd1	A	G	18: 15,194,853 (GRCm39)	V590A	probably benign	Het
Lrrc8e	A	T	8: 4,284,504 (GRCm39)	H243L	probably damaging	Het
Lsr	A	G	7: 30,657,670 (GRCm39)	L498S	probably benign	Het
Mapkbp1	A	G	2: 119,843,556 (GRCm39)	D268G	probably damaging	Het
Mfn1	T	C	3: 32,598,287 (GRCm39)	V203A	possibly damaging	Het
Micu1	T	A	10: 59,604,051 (GRCm39)	I212N	probably damaging	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nos1	G	C	5: 118,017,402 (GRCm39)	R255P	probably benign	Het
Or11i1	A	G	3: 106,729,737 (GRCm39)	I46T	probably benign	Het
Or12j4	T	C	7: 140,046,423 (GRCm39)	F103S	probably damaging	Het
Or8g30	T	C	9: 39,230,487 (GRCm39)	Y141C	probably benign	Het
Pabpc6	T	C	17: 9,886,769 (GRCm39)	E594G	probably damaging	Het
Pald1	A	T	10: 61,176,989 (GRCm39)		probably null	Het
Pdpk1	A	G	17: 24,325,938 (GRCm39)	I113T	possibly damaging	Het
Perm1	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	4: 156,302,525 (GRCm39)		probably benign	Het
Pi4kb	T	C	3: 94,906,219 (GRCm39)	S589P	probably damaging	Het
Pik3ca	G	A	3: 32,496,981 (GRCm39)		probably null	Het
Plekhg4	A	T	8: 106,103,271 (GRCm39)	M315L	probably benign	Het
Proz	G	A	8: 13,123,472 (GRCm39)	V248M	possibly damaging	Het
Prss1	T	C	6: 41,438,183 (GRCm39)	Y37H	probably damaging	Het
R3hdml	T	A	2: 163,337,612 (GRCm39)	W89R	probably damaging	Het
Ranbp3l	A	G	15: 9,057,293 (GRCm39)	T319A	probably benign	Het
Scn4a	C	T	11: 106,215,054 (GRCm39)	A1246T	probably damaging	Het
Sdr42e1	T	A	8: 118,389,999 (GRCm39)	Y214F	probably benign	Het
Slc10a2	C	T	8: 5,148,565 (GRCm39)	V127I	probably benign	Het
Slc16a1	T	A	3: 104,560,148 (GRCm39)	M151K	possibly damaging	Het
Slc25a25	C	T	2: 32,310,391 (GRCm39)	E123K	probably damaging	Het
Ssbp2	T	A	13: 91,818,525 (GRCm39)	M171K	possibly damaging	Het
Styk1	A	G	6: 131,286,946 (GRCm39)	V183A	probably damaging	Het
Tmco1	C	T	1: 167,136,132 (GRCm39)		probably benign	Het
Tspan18	T	G	2: 93,040,200 (GRCm39)	D185A	probably benign	Het
Ttn	T	C	2: 76,608,621 (GRCm39)	I17798M	probably damaging	Het
Ube2j1	C	A	4: 33,036,759 (GRCm39)	H28N	probably benign	Het
Vmn1r195	A	C	13: 22,463,342 (GRCm39)	I271L	possibly damaging	Het
Vmn2r81	A	C	10: 79,103,166 (GRCm39)	T120P	possibly damaging	Het
Vmn2r-ps158	A	T	7: 42,673,965 (GRCm39)	Y348F	possibly damaging	Het
Wtip	A	G	7: 33,824,908 (GRCm39)		probably null	Het
Zc3h12d	C	T	10: 7,729,022 (GRCm39)	H129Y	probably damaging	Het
Zfp600	T	G	4: 146,131,673 (GRCm39)	S114A	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
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
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'- TGCAGTACTTTGGACCTTGAAC -3'
(R):5'- AAGTGCCGGACAGTTAGGATC -3'

Sequencing Primer
(F):5'- GCAGTACTTTGGACCTTGAACATTAG -3'
(R):5'- CCATGCTGAGAAGGTCAATGTGC -3'

Posted On

2022-03-25