Incidental Mutation 'IGL01080:Tti1'
ID278160
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tti1
Ensembl Gene ENSMUSG00000027650
Gene NameTELO2 interacting protein 1
Synonyms2610036D13Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.960) question?
Stock #IGL01080
Quality Score
Status
Chromosome2
Chromosomal Location157981803-158028433 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 157982459 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 1025 (V1025I)
Ref Sequence ENSEMBL: ENSMUSP00000105148 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029179] [ENSMUST00000109522]
Predicted Effect probably damaging
Transcript: ENSMUST00000029179
AA Change: V1025I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000029179
Gene: ENSMUSG00000027650
AA Change: V1025I

DomainStartEndE-ValueType
low complexity region 89 101 N/A INTRINSIC
low complexity region 175 189 N/A INTRINSIC
low complexity region 194 206 N/A INTRINSIC
low complexity region 306 319 N/A INTRINSIC
low complexity region 401 411 N/A INTRINSIC
low complexity region 494 504 N/A INTRINSIC
low complexity region 752 768 N/A INTRINSIC
SCOP:d1gw5a_ 855 1044 3e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000109522
AA Change: V1025I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000105148
Gene: ENSMUSG00000027650
AA Change: V1025I

DomainStartEndE-ValueType
low complexity region 89 101 N/A INTRINSIC
low complexity region 175 189 N/A INTRINSIC
low complexity region 194 206 N/A INTRINSIC
low complexity region 306 319 N/A INTRINSIC
low complexity region 401 411 N/A INTRINSIC
low complexity region 494 504 N/A INTRINSIC
low complexity region 752 768 N/A INTRINSIC
SCOP:d1gw5a_ 855 1044 3e-4 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 A T 5: 8,934,258 R663W probably damaging Het
Cacng5 A T 11: 107,877,928 F179L probably damaging Het
Cacng5 C T 11: 107,881,705 V106I probably benign Het
Cd96 T C 16: 46,049,693 E471G possibly damaging Het
Cpt1c T C 7: 44,960,909 D621G probably damaging Het
Csmd3 T C 15: 47,881,403 I1503V probably benign Het
Dmgdh T C 13: 93,703,778 probably benign Het
Flg A T 3: 93,279,599 K119N probably benign Het
Gale T C 4: 135,966,078 Y104H probably damaging Het
Gm8005 T C 14: 42,437,014 D119G unknown Het
Gstk1 A T 6: 42,246,626 D50V possibly damaging Het
Kmt2a T C 9: 44,809,092 D3866G unknown Het
Mastl A G 2: 23,146,148 S119P probably damaging Het
Olfr169 A T 16: 19,566,208 V225E probably damaging Het
Phf11c G A 14: 59,393,199 T19I probably benign Het
Ppp1r16b A G 2: 158,757,172 T355A probably damaging Het
Prmt7 T G 8: 106,237,214 probably benign Het
Rad50 T C 11: 53,706,068 T44A probably damaging Het
Rangap1 C T 15: 81,705,752 probably benign Het
Slc27a3 A T 3: 90,385,460 V634E probably benign Het
Tbxas1 T A 6: 39,021,181 L228I probably damaging Het
Tnfaip3 T C 10: 19,011,655 K41E probably benign Het
Tyrobp T C 7: 30,417,416 probably null Het
Wfdc16 A T 2: 164,638,486 W30R probably damaging Het
Zyg11b A T 4: 108,237,416 L657Q probably damaging Het
Other mutations in Tti1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00434:Tti1 APN 2 158008966 missense probably damaging 1.00
IGL00434:Tti1 APN 2 158008965 missense probably damaging 1.00
IGL00820:Tti1 APN 2 158008968 missense probably damaging 1.00
IGL00949:Tti1 APN 2 157982399 missense probably benign 0.00
IGL01084:Tti1 APN 2 157982459 missense probably damaging 1.00
IGL01339:Tti1 APN 2 158009130 missense possibly damaging 0.80
IGL01685:Tti1 APN 2 158000785 missense probably benign 0.01
IGL01866:Tti1 APN 2 158007698 missense probably benign 0.27
IGL01903:Tti1 APN 2 158000622 missense probably benign 0.01
IGL03142:Tti1 APN 2 158000677 missense probably damaging 0.99
IGL03173:Tti1 APN 2 158007012 unclassified probably benign
IGL03385:Tti1 APN 2 157993025 missense possibly damaging 0.86
R0413:Tti1 UTSW 2 157995476 missense probably benign 0.00
R0601:Tti1 UTSW 2 157993372 missense probably damaging 0.99
R1718:Tti1 UTSW 2 158008224 missense probably benign 0.40
R1760:Tti1 UTSW 2 157993035 missense possibly damaging 0.87
R1761:Tti1 UTSW 2 158007697 missense probably benign 0.01
R1968:Tti1 UTSW 2 158009046 missense possibly damaging 0.66
R2054:Tti1 UTSW 2 158007445 missense possibly damaging 0.79
R2131:Tti1 UTSW 2 158000743 missense probably benign
R3886:Tti1 UTSW 2 158008950 missense possibly damaging 0.74
R4479:Tti1 UTSW 2 158008395 missense possibly damaging 0.95
R4647:Tti1 UTSW 2 158007020 unclassified probably benign
R5124:Tti1 UTSW 2 158008195 missense probably damaging 0.99
R5145:Tti1 UTSW 2 158008512 missense probably benign 0.30
R5852:Tti1 UTSW 2 158000673 missense probably damaging 1.00
R6667:Tti1 UTSW 2 158008427 nonsense probably null
R6714:Tti1 UTSW 2 158007051 missense possibly damaging 0.73
R6719:Tti1 UTSW 2 157982300 missense probably benign 0.01
R7143:Tti1 UTSW 2 158007676 missense probably benign
R7490:Tti1 UTSW 2 157995472 missense probably damaging 1.00
R7540:Tti1 UTSW 2 158007996 missense probably benign 0.43
R7549:Tti1 UTSW 2 158007168 missense probably damaging 1.00
R7641:Tti1 UTSW 2 158009029 missense possibly damaging 0.92
R7654:Tti1 UTSW 2 158008554 missense probably benign 0.00
R7716:Tti1 UTSW 2 158000698 missense probably benign 0.43
R7722:Tti1 UTSW 2 158007607 missense probably benign 0.00
R7898:Tti1 UTSW 2 157993470 missense probably benign 0.00
R8117:Tti1 UTSW 2 158007498 missense probably damaging 1.00
R8145:Tti1 UTSW 2 158007589 nonsense probably null
R8249:Tti1 UTSW 2 158000715 missense probably benign
R8712:Tti1 UTSW 2 157993010 missense probably damaging 1.00
R8784:Tti1 UTSW 2 158008594 missense probably benign 0.02
Z1176:Tti1 UTSW 2 157982429 missense probably damaging 1.00
Posted On2015-04-16