Incidental Mutation 'R3875:Tti2'
ID 276791
Institutional Source Beutler Lab
Gene Symbol Tti2
Ensembl Gene ENSMUSG00000031577
Gene Name TELO2 interacting protein 2
Synonyms BC019943
MMRRC Submission 068967-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3875 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 31640344-31654731 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 31641175 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 100 (K100E)
Ref Sequence ENSEMBL: ENSMUSP00000147956 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098842] [ENSMUST00000209851] [ENSMUST00000209986] [ENSMUST00000210129]
AlphaFold Q8BGV4
Predicted Effect probably benign
Transcript: ENSMUST00000098842
AA Change: K100E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000096441
Gene: ENSMUSG00000031577
AA Change: K100E

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 probably benign
Transcript: ENSMUST00000209851
AA Change: K100E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000209986
AA Change: K100E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000210129
AA Change: K100E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.1%
Validation Efficiency 100% (50/50)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6820408C15Rik T C 2: 152,276,000 (GRCm39) S72P probably benign Het
Abca5 T A 11: 110,201,059 (GRCm39) Y447F probably damaging Het
Adgrg2 A G X: 159,261,992 (GRCm39) S337G probably benign Het
Akap12 G A 10: 4,307,590 (GRCm39) V1467I probably benign Het
Baz2a T A 10: 127,959,979 (GRCm39) M1419K probably damaging Het
Cacna1g G A 11: 94,328,749 (GRCm39) T1033I probably damaging Het
Car12 C A 9: 66,624,834 (GRCm39) probably benign Het
Cpne1 G A 2: 155,918,202 (GRCm39) H352Y probably damaging Het
D630039A03Rik T A 4: 57,910,606 (GRCm39) T69S probably benign Het
Dhodh T C 8: 110,321,592 (GRCm39) D310G probably null Het
Dnah2 A G 11: 69,320,174 (GRCm39) I3965T probably damaging Het
Drd5 T G 5: 38,477,157 (GRCm39) V50G possibly damaging Het
Dst C A 1: 34,210,328 (GRCm39) H934Q probably damaging Het
Eif1ad10 T C 12: 88,216,476 (GRCm39) D132G unknown Het
Far2 G A 6: 148,052,089 (GRCm39) E123K probably benign Het
Fbxo43 A T 15: 36,162,249 (GRCm39) F319L probably benign Het
Flii T C 11: 60,611,318 (GRCm39) S418G probably benign Het
Glyctk T A 9: 106,034,820 (GRCm39) Y82F probably damaging Het
Gm11353 G T 13: 26,676,651 (GRCm39) noncoding transcript Het
Gm6505 T A 3: 28,819,286 (GRCm39) noncoding transcript Het
Gpr151 A G 18: 42,711,661 (GRCm39) V339A probably benign Het
H2-T22 T C 17: 36,351,195 (GRCm39) I296V probably benign Het
Igfn1 T C 1: 135,882,352 (GRCm39) N2831S probably damaging Het
Igkv13-85 A G 6: 68,907,484 (GRCm39) V39A probably damaging Het
Irx5 A G 8: 93,086,793 (GRCm39) T242A probably benign Het
Krt26 T C 11: 99,225,570 (GRCm39) K304E probably damaging Het
Mcoln1 A G 8: 3,558,355 (GRCm39) D203G probably benign Het
Mlph T C 1: 90,855,844 (GRCm39) C57R probably damaging Het
Myh13 C A 11: 67,249,020 (GRCm39) H1275Q probably benign Het
Nbeal1 T A 1: 60,233,758 (GRCm39) probably benign Het
Orc5 T A 5: 22,742,564 (GRCm39) M115L probably benign Het
Pcdha6 T A 18: 37,101,119 (GRCm39) I104N probably damaging Het
Plcb4 T C 2: 135,844,552 (GRCm39) S157P probably damaging Het
Polq A G 16: 36,894,389 (GRCm39) D1787G probably damaging Het
Prkar2b T G 12: 32,015,122 (GRCm39) I142L probably benign Het
Ptprq A G 10: 107,520,965 (GRCm39) S736P possibly damaging Het
Qrich2 A T 11: 116,336,477 (GRCm39) V2046D probably damaging Het
Rad21 A T 15: 51,833,361 (GRCm39) F373I probably damaging Het
Rcvrn A G 11: 67,590,880 (GRCm39) I155V probably benign Het
Rsrc2 C T 5: 123,874,691 (GRCm39) probably benign Het
Sgsh A G 11: 119,241,773 (GRCm39) L111P probably damaging Het
Ssc5d A T 7: 4,930,261 (GRCm39) D114V probably damaging Het
St6gal2 C A 17: 55,789,698 (GRCm39) P244Q probably benign Het
Tarbp1 A G 8: 127,165,538 (GRCm39) probably benign Het
Tmem221 T C 8: 72,008,399 (GRCm39) probably null Het
Trh A T 6: 92,220,679 (GRCm39) V61E possibly damaging Het
Trim32 A T 4: 65,531,703 (GRCm39) I87F possibly damaging Het
Usp34 C T 11: 23,439,033 (GRCm39) P3532S possibly damaging Het
Vps13d A G 4: 144,917,114 (GRCm39) Y17H probably damaging Het
Zfp106 T C 2: 120,365,094 (GRCm39) K438E probably benign Het
Zfp60 T C 7: 27,449,006 (GRCm39) I558T probably damaging Het
Zzef1 A C 11: 72,779,866 (GRCm39) I1880L probably benign 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
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
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'- ATTCTGAACCGTCTCAGCCG -3'
(R):5'- GGTCCATGGCTGCTTCAATC -3'

Sequencing Primer
(F):5'- GTCTCAGCCGCCCAAAGTC -3'
(R):5'- CCATGGCTGCTTCAATCTGTGAG -3'
Posted On 2015-04-06