Incidental Mutation 'R3916:Tti2'
ID 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 8
Chromosomal Location 31150315-31164702 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 31153519 bp (GRCm38)
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

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: 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 question?
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik T G 2: 68,731,985 (GRCm38) F319V possibly damaging Het
Acad12 A G 5: 121,599,214 (GRCm38) V498A probably damaging Het
Adam19 A G 11: 46,060,935 (GRCm38) E37G probably benign Het
Anks3 A G 16: 4,947,279 (GRCm38) Y423H probably damaging Het
Arfgef1 A T 1: 10,189,443 (GRCm38) V600D probably benign Het
Arhgef18 T C 8: 3,454,197 (GRCm38) F939L probably benign Het
Arhgef2 A G 3: 88,633,033 (GRCm38) N127S probably damaging Het
Arid1b A G 17: 5,342,653 (GRCm38) S2100G probably benign Het
Atp1b2 A G 11: 69,603,075 (GRCm38) V93A probably damaging Het
Atrnl1 T C 19: 57,935,652 (GRCm38) V1283A possibly damaging Het
Bpifb5 A C 2: 154,228,181 (GRCm38) K184Q probably benign Het
Cadps C T 14: 12,457,702 (GRCm38) A1060T probably benign Het
Cant1 A G 11: 118,408,746 (GRCm38) V259A probably damaging Het
Ccdc89 A G 7: 90,426,825 (GRCm38) D81G probably damaging Het
Cd109 CATTTATTTATTTATTTATTTATTTATTTATTTAT CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT 9: 78,712,500 (GRCm38) probably benign Het
Cntnap4 C G 8: 112,875,533 (GRCm38) P1190A probably benign Het
Colgalt2 T A 1: 152,508,611 (GRCm38) Y567* probably null Het
Cyp4f18 A T 8: 71,996,037 (GRCm38) F256Y probably benign Het
Ddx41 G A 13: 55,534,480 (GRCm38) R205W possibly damaging Het
Dopey1 G A 9: 86,521,133 (GRCm38) R1462H probably damaging Het
Dync1i2 A G 2: 71,249,372 (GRCm38) T377A probably damaging Het
F2 G A 2: 91,625,488 (GRCm38) T600M probably damaging Het
Fam91a1 C T 15: 58,430,734 (GRCm38) H308Y probably damaging Het
Fkbp2 C A 19: 6,978,557 (GRCm38) probably null Het
Gabarapl2 T A 8: 111,952,396 (GRCm38) F115L probably benign Het
Heatr3 T G 8: 88,150,371 (GRCm38) probably null Het
Ifi204 T G 1: 173,755,775 (GRCm38) K292N possibly damaging Het
Itpkc A T 7: 27,228,303 (GRCm38) I62N probably benign Het
Kcnab1 G A 3: 65,304,164 (GRCm38) probably null Het
Krt88 G A 15: 101,452,928 (GRCm38) probably null Het
Larp4 C T 15: 99,990,403 (GRCm38) T107I probably benign Het
Lmo7 T C 14: 101,929,342 (GRCm38) probably benign Het
Lrrc37a T C 11: 103,455,518 (GRCm38) Y3174C possibly damaging Het
Lyzl4 T A 9: 121,583,035 (GRCm38) D105V probably damaging Het
Mst1 A G 9: 108,084,295 (GRCm38) I575V probably benign Het
Myh7 C A 14: 54,974,046 (GRCm38) E1555D probably damaging Het
Nwd1 T A 8: 72,667,811 (GRCm38) C608* probably null Het
Obox3 C A 7: 15,627,226 (GRCm38) C38F probably benign Het
P4ha2 A G 11: 54,126,248 (GRCm38) D441G probably benign Het
Pcdhb14 A T 18: 37,448,545 (GRCm38) I235F possibly damaging Het
Rasgrf2 A G 13: 92,030,788 (GRCm38) V259A probably damaging Het
Scn1a T C 2: 66,277,613 (GRCm38) T1590A probably damaging Het
Sdk1 T A 5: 142,051,244 (GRCm38) D817E probably damaging Het
Sema3b A G 9: 107,600,458 (GRCm38) F482S probably damaging Het
Slc35a5 G C 16: 45,158,158 (GRCm38) probably benign Het
Slc6a3 A G 13: 73,562,308 (GRCm38) I346V probably benign Het
Slu7 G T 11: 43,440,684 (GRCm38) probably null Het
Spns1 A T 7: 126,371,539 (GRCm38) probably null Het
Supv3l1 T C 10: 62,449,420 (GRCm38) D89G possibly damaging Het
Taf1c G A 8: 119,600,505 (GRCm38) R412W probably damaging Het
Tctn3 T A 19: 40,607,649 (GRCm38) T305S possibly damaging Het
Tekt1 A G 11: 72,345,748 (GRCm38) I296T possibly damaging Het
Tet2 T C 3: 133,486,055 (GRCm38) K873E possibly damaging Het
Thada G A 17: 84,441,782 (GRCm38) A587V possibly damaging Het
Tmprss15 T A 16: 78,985,996 (GRCm38) N712Y probably damaging Het
Tnks A G 8: 34,853,361 (GRCm38) S719P probably damaging Het
Tnrc6a A C 7: 123,181,384 (GRCm38) Q1332H probably damaging Het
Trpv3 A G 11: 73,283,734 (GRCm38) D309G possibly damaging Het
Uba5 A T 9: 104,054,190 (GRCm38) C227S probably damaging Het
Ugcg C T 4: 59,207,798 (GRCm38) P46S probably benign Het
Unc80 T C 1: 66,677,495 (GRCm38) C2925R probably benign Het
Vmn2r83 G A 10: 79,478,910 (GRCm38) G331R probably benign Het
Xirp2 G T 2: 67,511,422 (GRCm38) V1336F probably benign Het
Zbed5 T C 5: 129,902,277 (GRCm38) Y356H possibly damaging Het
Other mutations in Tti2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02005:Tti2 APN 8 31,155,830 (GRCm38) missense probably damaging 1.00
IGL02118:Tti2 APN 8 31,155,509 (GRCm38) splice site probably null
IGL02640:Tti2 APN 8 31,155,914 (GRCm38) missense probably damaging 1.00
IGL02884:Tti2 APN 8 31,151,477 (GRCm38) missense possibly damaging 0.73
PIT4366001:Tti2 UTSW 8 31,151,196 (GRCm38) missense probably benign 0.00
R2062:Tti2 UTSW 8 31,154,310 (GRCm38) splice site probably benign
R2081:Tti2 UTSW 8 31,151,309 (GRCm38) missense possibly damaging 0.46
R2089:Tti2 UTSW 8 31,154,266 (GRCm38) missense probably damaging 1.00
R2091:Tti2 UTSW 8 31,154,266 (GRCm38) missense probably damaging 1.00
R2091:Tti2 UTSW 8 31,154,266 (GRCm38) missense probably damaging 1.00
R2301:Tti2 UTSW 8 31,155,795 (GRCm38) missense probably benign 0.03
R3735:Tti2 UTSW 8 31,155,897 (GRCm38) missense probably damaging 1.00
R3875:Tti2 UTSW 8 31,151,147 (GRCm38) missense probably benign
R3917:Tti2 UTSW 8 31,153,519 (GRCm38) missense possibly damaging 0.94
R4827:Tti2 UTSW 8 31,150,970 (GRCm38) missense probably benign 0.06
R6522:Tti2 UTSW 8 31,153,603 (GRCm38) missense probably null 0.01
R6969:Tti2 UTSW 8 31,154,301 (GRCm38) missense possibly damaging 0.50
R9036:Tti2 UTSW 8 31,155,786 (GRCm38) missense probably damaging 1.00
R9255:Tti2 UTSW 8 31,155,542 (GRCm38) missense probably damaging 1.00
R9295:Tti2 UTSW 8 31,153,522 (GRCm38) nonsense probably null
R9688:Tti2 UTSW 8 31,154,251 (GRCm38) missense probably damaging 1.00
R9774:Tti2 UTSW 8 31,155,632 (GRCm38) missense probably damaging 1.00
X0004:Tti2 UTSW 8 31,155,871 (GRCm38) 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