Incidental Mutation 'R2081:Tti2'
ID 229487
Institutional Source Beutler Lab
Gene Symbol Tti2
Ensembl Gene ENSMUSG00000031577
Gene Name TELO2 interacting protein 2
Synonyms BC019943
MMRRC Submission 040086-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2081 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 31640344-31654731 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 31641337 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 154 (F154L)
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: F154L

PolyPhen 2 Score 0.460 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000096441
Gene: ENSMUSG00000031577
AA Change: F154L

DomainStartEndE-ValueType
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: F154L

PolyPhen 2 Score 0.460 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect possibly damaging
Transcript: ENSMUST00000209986
AA Change: F154L

PolyPhen 2 Score 0.460 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect possibly damaging
Transcript: ENSMUST00000210129
AA Change: F154L

PolyPhen 2 Score 0.460 (Sensitivity: 0.89; Specificity: 0.90)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl6 A G 11: 54,211,085 (GRCm39) T28A possibly damaging Het
Actl11 G A 9: 107,807,396 (GRCm39) G573D probably benign Het
Adam39 T A 8: 41,279,879 (GRCm39) *757K probably null Het
Agpat4 T C 17: 12,370,771 (GRCm39) I38T possibly damaging Het
Ap3d1 A C 10: 80,568,770 (GRCm39) I36S probably damaging Het
Arhgap45 T C 10: 79,863,508 (GRCm39) F784L probably damaging Het
Atg5lrt T C 10: 95,972,601 (GRCm39) I46T possibly damaging Het
Atp10b T A 11: 43,092,955 (GRCm39) I430N probably damaging Het
Atrip T A 9: 108,901,807 (GRCm39) probably null Het
C2cd4b G T 9: 67,667,859 (GRCm39) R285L probably damaging Het
Camta1 T C 4: 151,228,699 (GRCm39) E711G probably benign Het
Clcn6 T C 4: 148,095,525 (GRCm39) Y685C probably damaging Het
Col18a1 T A 10: 76,890,019 (GRCm39) D1447V probably damaging Het
Crispld1 T A 1: 17,832,403 (GRCm39) V463D probably damaging Het
Crybg2 T G 4: 133,816,131 (GRCm39) F1612V possibly damaging Het
Dclk1 T C 3: 55,429,346 (GRCm39) probably null Het
Ddx46 G T 13: 55,821,829 (GRCm39) V834L probably benign Het
Dnah10 A G 5: 124,852,045 (GRCm39) D1734G possibly damaging Het
Dpep1 T C 8: 123,926,117 (GRCm39) V152A probably damaging Het
Ect2l T C 10: 18,041,275 (GRCm39) E301G probably damaging Het
Elf3 C T 1: 135,184,814 (GRCm39) C124Y probably benign Het
Eno2 A G 6: 124,740,088 (GRCm39) V316A probably damaging Het
Erap1 A G 13: 74,823,426 (GRCm39) E820G possibly damaging Het
Evpl A T 11: 116,125,092 (GRCm39) H123Q probably damaging Het
Fat2 T A 11: 55,200,503 (GRCm39) Y857F possibly damaging Het
Fbrsl1 T A 5: 110,519,491 (GRCm39) probably null Het
Fbxw7 A G 3: 84,881,820 (GRCm39) D432G probably damaging Het
Flt1 A T 5: 147,576,232 (GRCm39) L592Q probably damaging Het
Gm14496 T A 2: 181,642,272 (GRCm39) C648S probably damaging Het
Gm5150 A T 3: 16,045,109 (GRCm39) S39T probably benign Het
Gse1 C A 8: 121,293,219 (GRCm39) P177Q probably damaging Het
Heatr4 G A 12: 84,027,096 (GRCm39) R54W probably damaging Het
Hpgd C A 8: 56,760,677 (GRCm39) Q125K probably benign Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Mast2 A T 4: 116,187,671 (GRCm39) probably null Het
Mfsd11 A G 11: 116,752,381 (GRCm39) T177A possibly damaging Het
Mlx T C 11: 100,978,257 (GRCm39) S36P probably benign Het
Mlxipl T A 5: 135,142,492 (GRCm39) V102D probably damaging Het
Mms22l T C 4: 24,536,150 (GRCm39) Y540H probably damaging Het
Msc T C 1: 14,825,941 (GRCm39) D11G probably benign Het
Muc4 C G 16: 32,574,020 (GRCm39) S699R probably benign Het
Nckap1l T C 15: 103,405,881 (GRCm39) S1106P probably damaging Het
Obscn T C 11: 58,925,008 (GRCm39) E5703G possibly damaging Het
Or2ag1 A G 7: 106,313,405 (GRCm39) M161T probably benign Het
Pabpn1 A G 14: 55,133,115 (GRCm39) K38E probably damaging Het
Padi3 A T 4: 140,526,290 (GRCm39) L141Q probably damaging Het
Pakap G A 4: 57,855,927 (GRCm39) E419K possibly damaging Het
Pde3b A G 7: 114,122,657 (GRCm39) N742D probably benign Het
Pex1 T A 5: 3,674,132 (GRCm39) probably null Het
Pkd2 T C 5: 104,608,077 (GRCm39) V192A probably benign Het
Ppp6r2 T A 15: 89,166,332 (GRCm39) M750K probably benign Het
Prdm15 A T 16: 97,604,980 (GRCm39) Y783* probably null Het
Prox2 T A 12: 85,141,782 (GRCm39) Q140H probably damaging Het
Psg27 A T 7: 18,290,883 (GRCm39) I440K probably damaging Het
Pzp A G 6: 128,496,383 (GRCm39) M283T probably benign Het
Sec23a G A 12: 59,045,067 (GRCm39) Q192* probably null Het
Sh2b1 A G 7: 126,071,862 (GRCm39) S108P possibly damaging Het
Syce1 C A 7: 140,359,809 (GRCm39) L83F probably damaging Het
Tkfc G A 19: 10,574,742 (GRCm39) A166V probably damaging Het
Tomm70a T C 16: 56,961,121 (GRCm39) V358A probably damaging Het
Trim47 A G 11: 115,997,239 (GRCm39) F505S probably damaging Het
Ubap2l C T 3: 89,946,271 (GRCm39) G111D possibly damaging Het
Usp9y A T Y: 1,381,277 (GRCm39) I848N possibly damaging Het
Veph1 T C 3: 65,968,523 (GRCm39) Y740C probably damaging Het
Vmn2r114 T A 17: 23,510,083 (GRCm39) H799L possibly damaging Het
Wdr31 T A 4: 62,374,180 (GRCm39) M270L probably benign Het
Zfp26 A G 9: 20,347,913 (GRCm39) S884P probably benign Het
Zswim6 T A 13: 107,909,930 (GRCm39) noncoding transcript Het
Other mutations in Tti2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- TGAGAGCCCTGGAGAAGTTC -3'
(R):5'- GCACCCCTATCTGTCTGATAATAG -3'

Sequencing Primer
(F):5'- TGGAGAAGTTCGCAGCACC -3'
(R):5'- GCATTACTCACTTATTCAAATGGGGC -3'
Posted On 2014-09-17