Incidental Mutation 'IGL00434:Tti1'
ID |
6986 |
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)
|
Stock # |
IGL00434
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
157823723-157870353 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 157850885 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Valine
at position 118
(E118V)
|
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: E118V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000029179 Gene: ENSMUSG00000027650 AA Change: E118V
Domain | Start | End | E-Value | Type |
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: E118V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000105148 Gene: ENSMUSG00000027650 AA Change: E118V
Domain | Start | End | E-Value | Type |
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: E118V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000116592 Gene: ENSMUSG00000027650 AA Change: E118V
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arid2 |
T |
C |
15: 96,269,181 (GRCm39) |
V1098A |
probably damaging |
Het |
Bltp1 |
T |
C |
3: 37,041,448 (GRCm39) |
F2609L |
probably damaging |
Het |
Ccdc126 |
C |
T |
6: 49,311,239 (GRCm39) |
|
probably benign |
Het |
Cds2 |
T |
C |
2: 132,135,271 (GRCm39) |
L54P |
probably damaging |
Het |
Cdsn |
A |
T |
17: 35,865,740 (GRCm39) |
S90C |
unknown |
Het |
Clcn6 |
G |
T |
4: 148,098,195 (GRCm39) |
D581E |
probably damaging |
Het |
Clec4f |
T |
A |
6: 83,630,198 (GRCm39) |
H120L |
possibly damaging |
Het |
Col12a1 |
T |
C |
9: 79,560,614 (GRCm39) |
T1838A |
probably benign |
Het |
Col22a1 |
T |
C |
15: 71,878,524 (GRCm39) |
D211G |
possibly damaging |
Het |
Cpne8 |
T |
C |
15: 90,381,261 (GRCm39) |
|
probably benign |
Het |
Dgkk |
T |
A |
X: 6,772,697 (GRCm39) |
M462K |
probably benign |
Het |
Dhx29 |
T |
A |
13: 113,091,759 (GRCm39) |
H834Q |
probably benign |
Het |
Esyt1 |
A |
G |
10: 128,353,504 (GRCm39) |
Y578H |
possibly damaging |
Het |
Fnip2 |
C |
A |
3: 79,419,796 (GRCm39) |
|
probably benign |
Het |
Fut1 |
T |
G |
7: 45,268,855 (GRCm39) |
C270G |
probably damaging |
Het |
Ganab |
T |
A |
19: 8,884,707 (GRCm39) |
V170D |
probably damaging |
Het |
Gys1 |
T |
A |
7: 45,094,256 (GRCm39) |
M364K |
possibly damaging |
Het |
Ighv1-85 |
A |
C |
12: 115,963,654 (GRCm39) |
C115W |
probably damaging |
Het |
Igkv4-74 |
T |
G |
6: 69,162,044 (GRCm39) |
T42P |
probably damaging |
Het |
Jmjd4 |
A |
G |
11: 59,341,321 (GRCm39) |
Y84C |
probably damaging |
Het |
Kif11 |
A |
C |
19: 37,399,857 (GRCm39) |
E781D |
possibly damaging |
Het |
Kif14 |
G |
A |
1: 136,396,756 (GRCm39) |
S354N |
probably benign |
Het |
Klf1 |
C |
T |
8: 85,628,628 (GRCm39) |
P9S |
possibly damaging |
Het |
Lrrn3 |
T |
C |
12: 41,502,191 (GRCm39) |
|
probably benign |
Het |
Ltbp4 |
C |
A |
7: 27,028,230 (GRCm39) |
R309L |
probably damaging |
Het |
Marchf10 |
T |
C |
11: 105,293,014 (GRCm39) |
E131G |
possibly damaging |
Het |
Men1 |
G |
A |
19: 6,387,237 (GRCm39) |
|
probably null |
Het |
Mgme1 |
T |
A |
2: 144,121,056 (GRCm39) |
|
probably benign |
Het |
Nkiras2 |
G |
A |
11: 100,515,808 (GRCm39) |
G45D |
probably damaging |
Het |
Orc2 |
A |
T |
1: 58,532,875 (GRCm39) |
D16E |
possibly damaging |
Het |
Pcyox1l |
T |
C |
18: 61,830,613 (GRCm39) |
T420A |
probably benign |
Het |
Pira13 |
C |
A |
7: 3,826,088 (GRCm39) |
G302C |
probably damaging |
Het |
Pm20d1 |
A |
G |
1: 131,741,738 (GRCm39) |
|
probably benign |
Het |
Ppp1r3c |
T |
C |
19: 36,711,503 (GRCm39) |
D89G |
probably damaging |
Het |
Ppp2ca |
G |
A |
11: 52,012,776 (GRCm39) |
R302H |
probably benign |
Het |
Riok3 |
T |
C |
18: 12,281,904 (GRCm39) |
V291A |
probably damaging |
Het |
Rragd |
A |
G |
4: 33,007,219 (GRCm39) |
|
probably benign |
Het |
Scai |
C |
A |
2: 38,998,406 (GRCm39) |
L174F |
probably damaging |
Het |
Slc25a44 |
T |
C |
3: 88,323,369 (GRCm39) |
I227V |
probably benign |
Het |
Slc35f1 |
T |
C |
10: 52,938,548 (GRCm39) |
L160P |
probably damaging |
Het |
Slc38a1 |
A |
G |
15: 96,483,504 (GRCm39) |
Y275H |
possibly damaging |
Het |
Slco6b1 |
A |
G |
1: 96,916,375 (GRCm39) |
|
noncoding transcript |
Het |
Spag8 |
G |
T |
4: 43,652,890 (GRCm39) |
C190* |
probably null |
Het |
Tbr1 |
T |
C |
2: 61,635,625 (GRCm39) |
F192L |
probably benign |
Het |
Vcan |
G |
T |
13: 89,852,821 (GRCm39) |
P713Q |
probably damaging |
Het |
Vcf2 |
A |
T |
X: 149,181,395 (GRCm39) |
V132E |
possibly damaging |
Het |
Wt1 |
G |
T |
2: 104,974,486 (GRCm39) |
|
probably null |
Het |
Xylt1 |
T |
A |
7: 117,249,912 (GRCm39) |
I694N |
probably damaging |
Het |
Zfp516 |
T |
A |
18: 82,975,233 (GRCm39) |
M477K |
probably benign |
Het |
|
Other mutations in Tti1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00434:Tti1
|
APN |
2 |
157,850,886 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00820:Tti1
|
APN |
2 |
157,850,888 (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 |
2012-04-20 |