Incidental Mutation 'IGL00434:Tti1'
ID6985
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: 0.955) question?
Stock #IGL00434
Quality Score
Status
Chromosome2
Chromosomal Location157981803-158028433 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 158008966 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Lysine at position 118 (E118K)
Ref Sequence ENSEMBL: ENSMUSP00000116592 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029179] [ENSMUST00000109522] [ENSMUST00000124338]
Predicted Effect probably damaging
Transcript: ENSMUST00000029179
AA Change: E118K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029179
Gene: ENSMUSG00000027650
AA Change: E118K

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: E118K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105148
Gene: ENSMUSG00000027650
AA Change: E118K

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: ENSMUST00000124338
AA Change: E118K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116592
Gene: ENSMUSG00000027650
AA Change: E118K

DomainStartEndE-ValueType
low complexity region 89 101 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126541
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik T C 3: 36,987,299 F2609L probably damaging Het
Arid2 T C 15: 96,371,300 V1098A probably damaging Het
Ccdc126 C T 6: 49,334,305 probably benign Het
Cds2 T C 2: 132,293,351 L54P probably damaging Het
Cdsn A T 17: 35,554,843 S90C unknown Het
Clcn6 G T 4: 148,013,738 D581E probably damaging Het
Clec4f T A 6: 83,653,216 H120L possibly damaging Het
Col12a1 T C 9: 79,653,332 T1838A probably benign Het
Col22a1 T C 15: 72,006,675 D211G possibly damaging Het
Cpne8 T C 15: 90,497,058 probably benign Het
Dgkk T A X: 6,906,458 M462K probably benign Het
Dhx29 T A 13: 112,955,225 H834Q probably benign Het
Esyt1 A G 10: 128,517,635 Y578H possibly damaging Het
Fnip2 C A 3: 79,512,489 probably benign Het
Fut1 T G 7: 45,619,431 C270G probably damaging Het
Ganab T A 19: 8,907,343 V170D probably damaging Het
Gm15448 C A 7: 3,823,089 G302C probably damaging Het
Gys1 T A 7: 45,444,832 M364K possibly damaging Het
Ighv1-85 A C 12: 116,000,034 C115W probably damaging Het
Igkv4-74 T G 6: 69,185,060 T42P probably damaging Het
Jmjd4 A G 11: 59,450,495 Y84C probably damaging Het
Kif11 A C 19: 37,411,409 E781D possibly damaging Het
Kif14 G A 1: 136,469,018 S354N probably benign Het
Klf1 C T 8: 84,901,999 P9S possibly damaging Het
Lrrn3 T C 12: 41,452,192 probably benign Het
Ltbp4 C A 7: 27,328,805 R309L probably damaging Het
March10 T C 11: 105,402,188 E131G possibly damaging Het
Men1 G A 19: 6,337,207 probably null Het
Mgme1 T A 2: 144,279,136 probably benign Het
Nkiras2 G A 11: 100,624,982 G45D probably damaging Het
Orc2 A T 1: 58,493,716 D16E possibly damaging Het
Pcyox1l T C 18: 61,697,542 T420A probably benign Het
Pm20d1 A G 1: 131,814,000 probably benign Het
Ppp1r3c T C 19: 36,734,103 D89G probably damaging Het
Ppp2ca G A 11: 52,121,949 R302H probably benign Het
Riok3 T C 18: 12,148,847 V291A probably damaging Het
Rragd A G 4: 33,007,219 probably benign Het
Scai C A 2: 39,108,394 L174F probably damaging Het
Slc25a44 T C 3: 88,416,062 I227V probably benign Het
Slc35f1 T C 10: 53,062,452 L160P probably damaging Het
Slc38a1 A G 15: 96,585,623 Y275H possibly damaging Het
Slco6b1 A G 1: 96,988,650 noncoding transcript Het
Spag8 G T 4: 43,652,890 C190* probably null Het
Tbr1 T C 2: 61,805,281 F192L probably benign Het
Tmem29 A T X: 150,398,399 V132E possibly damaging Het
Vcan G T 13: 89,704,702 P713Q probably damaging Het
Wt1 G T 2: 105,144,141 probably null Het
Xylt1 T A 7: 117,650,685 I694N probably damaging Het
Zfp516 T A 18: 82,957,108 M477K probably benign Het
Other mutations in Tti1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL01080:Tti1 APN 2 157982459 missense probably damaging 1.00
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
R7981:Tti1 UTSW 2 157993470 missense probably benign 0.00
Z1176:Tti1 UTSW 2 157982429 missense probably damaging 1.00
Posted On2012-04-20