Incidental Mutation 'IGL00820:Tti1'
ID 14638
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tti1
Ensembl Gene ENSMUSG00000027650
Gene Name TELO2 interacting protein 1
Synonyms 2610036D13Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.947) question?
Stock # IGL00820
Quality Score
Status
Chromosome 2
Chromosomal Location 157823723-157870353 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 157850888 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 117 (E117G)
Ref Sequence ENSEMBL: ENSMUSP00000116592 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029179] [ENSMUST00000109522] [ENSMUST00000124338]
AlphaFold Q91V83
Predicted Effect probably damaging
Transcript: ENSMUST00000029179
AA Change: E117G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029179
Gene: ENSMUSG00000027650
AA Change: E117G

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: E117G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105148
Gene: ENSMUSG00000027650
AA Change: E117G

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: E117G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116592
Gene: ENSMUSG00000027650
AA Change: E117G

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: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg3 T A 5: 105,083,878 (GRCm39) I631F probably benign Het
Baiap3 T C 17: 25,467,664 (GRCm39) D314G probably benign Het
Ccl1 T C 11: 82,068,914 (GRCm39) E41G possibly damaging Het
Ephx1 T C 1: 180,827,386 (GRCm39) Y89C possibly damaging Het
Fbxw18 G A 9: 109,522,437 (GRCm39) T144I probably damaging Het
Galt C T 4: 41,758,570 (GRCm39) A357V probably benign Het
Gfra1 T C 19: 58,252,337 (GRCm39) probably benign Het
Hivep1 A T 13: 42,337,294 (GRCm39) I2458L probably benign Het
Itga8 A G 2: 12,237,703 (GRCm39) V339A possibly damaging Het
Klk1b8 T C 7: 43,604,210 (GRCm39) I226T probably benign Het
Mfsd6 C T 1: 52,747,465 (GRCm39) V467M probably damaging Het
Mrpl16 T C 19: 11,751,777 (GRCm39) V179A probably benign Het
Or52e19b G A 7: 103,032,672 (GRCm39) T179I probably damaging Het
Pnpla6 A G 8: 3,582,358 (GRCm39) T693A possibly damaging Het
Ptpn2 A C 18: 67,808,862 (GRCm39) I318R possibly damaging Het
Slc34a1 A G 13: 24,003,317 (GRCm39) H285R probably benign Het
Slit2 G A 5: 48,146,493 (GRCm39) E95K possibly damaging Het
Spmip6 A T 4: 41,507,178 (GRCm39) L206Q probably damaging Het
Sptb A G 12: 76,679,251 (GRCm39) L68P probably damaging Het
Stxbp6 G A 12: 44,908,129 (GRCm39) T163I probably damaging Het
Tex15 A G 8: 34,069,034 (GRCm39) probably benign Het
Ube4b T C 4: 149,437,378 (GRCm39) probably benign Het
Wipi1 A C 11: 109,473,945 (GRCm39) probably benign Het
Zan A T 5: 137,384,626 (GRCm39) C5133S unknown Het
Other mutations in Tti1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00434:Tti1 APN 2 157,850,885 (GRCm39) missense probably damaging 1.00
IGL00434:Tti1 APN 2 157,850,886 (GRCm39) missense probably damaging 1.00
IGL00949:Tti1 APN 2 157,824,319 (GRCm39) missense probably benign 0.00
IGL01080:Tti1 APN 2 157,824,379 (GRCm39) missense probably damaging 1.00
IGL01084:Tti1 APN 2 157,824,379 (GRCm39) missense probably damaging 1.00
IGL01339:Tti1 APN 2 157,851,050 (GRCm39) missense possibly damaging 0.80
IGL01685:Tti1 APN 2 157,842,705 (GRCm39) missense probably benign 0.01
IGL01866:Tti1 APN 2 157,849,618 (GRCm39) missense probably benign 0.27
IGL01903:Tti1 APN 2 157,842,542 (GRCm39) missense probably benign 0.01
IGL03142:Tti1 APN 2 157,842,597 (GRCm39) missense probably damaging 0.99
IGL03173:Tti1 APN 2 157,848,932 (GRCm39) unclassified probably benign
IGL03385:Tti1 APN 2 157,834,945 (GRCm39) missense possibly damaging 0.86
R0413:Tti1 UTSW 2 157,837,396 (GRCm39) missense probably benign 0.00
R0601:Tti1 UTSW 2 157,835,292 (GRCm39) missense probably damaging 0.99
R1718:Tti1 UTSW 2 157,850,144 (GRCm39) missense probably benign 0.40
R1760:Tti1 UTSW 2 157,834,955 (GRCm39) missense possibly damaging 0.87
R1761:Tti1 UTSW 2 157,849,617 (GRCm39) missense probably benign 0.01
R1968:Tti1 UTSW 2 157,850,966 (GRCm39) missense possibly damaging 0.66
R2054:Tti1 UTSW 2 157,849,365 (GRCm39) missense possibly damaging 0.79
R2131:Tti1 UTSW 2 157,842,663 (GRCm39) missense probably benign
R3886:Tti1 UTSW 2 157,850,870 (GRCm39) missense possibly damaging 0.74
R4479:Tti1 UTSW 2 157,850,315 (GRCm39) missense possibly damaging 0.95
R4647:Tti1 UTSW 2 157,848,940 (GRCm39) unclassified probably benign
R5124:Tti1 UTSW 2 157,850,115 (GRCm39) missense probably damaging 0.99
R5145:Tti1 UTSW 2 157,850,432 (GRCm39) missense probably benign 0.30
R5852:Tti1 UTSW 2 157,842,593 (GRCm39) missense probably damaging 1.00
R6667:Tti1 UTSW 2 157,850,347 (GRCm39) nonsense probably null
R6714:Tti1 UTSW 2 157,848,971 (GRCm39) missense possibly damaging 0.73
R6719:Tti1 UTSW 2 157,824,220 (GRCm39) missense probably benign 0.01
R7143:Tti1 UTSW 2 157,849,596 (GRCm39) missense probably benign
R7490:Tti1 UTSW 2 157,837,392 (GRCm39) missense probably damaging 1.00
R7540:Tti1 UTSW 2 157,849,916 (GRCm39) missense probably benign 0.43
R7549:Tti1 UTSW 2 157,849,088 (GRCm39) missense probably damaging 1.00
R7641:Tti1 UTSW 2 157,850,949 (GRCm39) missense possibly damaging 0.92
R7654:Tti1 UTSW 2 157,850,474 (GRCm39) missense probably benign 0.00
R7716:Tti1 UTSW 2 157,842,618 (GRCm39) missense probably benign 0.43
R7722:Tti1 UTSW 2 157,849,527 (GRCm39) missense probably benign 0.00
R7898:Tti1 UTSW 2 157,835,390 (GRCm39) missense probably benign 0.00
R8117:Tti1 UTSW 2 157,849,418 (GRCm39) missense probably damaging 1.00
R8145:Tti1 UTSW 2 157,849,509 (GRCm39) nonsense probably null
R8249:Tti1 UTSW 2 157,842,635 (GRCm39) missense probably benign
R8712:Tti1 UTSW 2 157,834,930 (GRCm39) missense probably damaging 1.00
R8784:Tti1 UTSW 2 157,850,514 (GRCm39) missense probably benign 0.02
R8912:Tti1 UTSW 2 157,851,188 (GRCm39) missense probably benign 0.00
R9352:Tti1 UTSW 2 157,842,692 (GRCm39) missense probably benign 0.00
R9725:Tti1 UTSW 2 157,849,304 (GRCm39) missense probably benign 0.13
Z1176:Tti1 UTSW 2 157,824,349 (GRCm39) missense probably damaging 1.00
Posted On 2012-12-06