Incidental Mutation 'IGL01866:Tti1'
| ID |
178510 |
| 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 # |
IGL01866
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
157823723-157870353 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 157849618 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 540
(D540E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105148
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029179]
[ENSMUST00000109522]
[ENSMUST00000124338]
|
| AlphaFold |
Q91V83 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029179
AA Change: D540E
PolyPhen 2
Score 0.270 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000029179
Gene: ENSMUSG00000027650
AA Change: D540E
| 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 benign
Transcript: ENSMUST00000109522
AA Change: D540E
PolyPhen 2
Score 0.270 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000105148
Gene: ENSMUSG00000027650
AA Change: D540E
| 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 benign
Transcript: ENSMUST00000124338
|
| SMART Domains |
Protein: ENSMUSP00000116592
Gene: ENSMUSG00000027650
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm1 |
T |
C |
4: 144,255,119 (GRCm39) |
Y180H |
possibly damaging |
Het |
| Abi3bp |
A |
T |
16: 56,492,336 (GRCm39) |
I1361L |
probably benign |
Het |
| Amph |
A |
T |
13: 19,326,172 (GRCm39) |
D634V |
probably damaging |
Het |
| Ank1 |
G |
A |
8: 23,583,871 (GRCm39) |
V317I |
possibly damaging |
Het |
| Ap4e1 |
G |
A |
2: 126,888,830 (GRCm39) |
V460I |
possibly damaging |
Het |
| Arhgap19 |
A |
T |
19: 41,775,016 (GRCm39) |
H198Q |
probably benign |
Het |
| Cacna1g |
C |
T |
11: 94,347,937 (GRCm39) |
G717D |
probably damaging |
Het |
| Camkk2 |
A |
G |
5: 122,902,013 (GRCm39) |
S99P |
probably damaging |
Het |
| Catsperb |
T |
A |
12: 101,475,570 (GRCm39) |
Y371* |
probably null |
Het |
| Cbl |
A |
T |
9: 44,065,122 (GRCm39) |
C735* |
probably null |
Het |
| Ccdc146 |
C |
A |
5: 21,538,052 (GRCm39) |
A91S |
probably damaging |
Het |
| Col1a2 |
G |
T |
6: 4,524,132 (GRCm39) |
D531Y |
probably damaging |
Het |
| Dscam |
T |
A |
16: 96,486,550 (GRCm39) |
T1042S |
probably benign |
Het |
| Dtnb |
A |
G |
12: 3,782,626 (GRCm39) |
Y363C |
probably benign |
Het |
| Ear10 |
A |
G |
14: 44,160,785 (GRCm39) |
L14P |
probably damaging |
Het |
| Egf |
A |
G |
3: 129,529,529 (GRCm39) |
S294P |
probably benign |
Het |
| Erbb3 |
T |
C |
10: 128,405,237 (GRCm39) |
*1340W |
probably null |
Het |
| Fam217b |
A |
G |
2: 178,062,224 (GRCm39) |
T63A |
probably benign |
Het |
| Fig4 |
G |
A |
10: 41,108,160 (GRCm39) |
P680L |
possibly damaging |
Het |
| Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
| Gm6882 |
T |
A |
7: 21,161,512 (GRCm39) |
I119F |
probably damaging |
Het |
| Hdac10 |
C |
A |
15: 89,008,736 (GRCm39) |
G442W |
probably damaging |
Het |
| Mc2r |
C |
T |
18: 68,540,494 (GRCm39) |
M266I |
possibly damaging |
Het |
| Mep1b |
A |
G |
18: 21,228,050 (GRCm39) |
Q551R |
probably benign |
Het |
| Mtrf1 |
T |
A |
14: 79,638,948 (GRCm39) |
C27S |
probably benign |
Het |
| Myo5c |
T |
A |
9: 75,176,864 (GRCm39) |
M603K |
probably benign |
Het |
| Nuf2 |
A |
G |
1: 169,326,407 (GRCm39) |
L448P |
possibly damaging |
Het |
| Or10a49 |
C |
T |
7: 108,468,006 (GRCm39) |
M118I |
possibly damaging |
Het |
| Or1e30 |
A |
T |
11: 73,678,654 (GRCm39) |
I297L |
probably benign |
Het |
| Or2b7 |
T |
C |
13: 21,739,343 (GRCm39) |
N283S |
probably benign |
Het |
| Or8g33 |
A |
T |
9: 39,338,025 (GRCm39) |
M114K |
probably damaging |
Het |
| Ppp2r5c |
T |
C |
12: 110,534,261 (GRCm39) |
Y375H |
probably benign |
Het |
| Pstpip2 |
A |
G |
18: 77,965,325 (GRCm39) |
I317M |
probably benign |
Het |
| Pxdn |
A |
G |
12: 30,034,570 (GRCm39) |
T208A |
probably benign |
Het |
| Rab3gap1 |
C |
T |
1: 127,818,817 (GRCm39) |
H116Y |
probably damaging |
Het |
| Rarb |
T |
A |
14: 16,443,751 (GRCm38) |
D179V |
probably benign |
Het |
| Rasal1 |
G |
A |
5: 120,813,488 (GRCm39) |
A621T |
probably damaging |
Het |
| Rnf6 |
G |
A |
5: 146,147,717 (GRCm39) |
R434C |
probably damaging |
Het |
| Scn10a |
C |
A |
9: 119,464,568 (GRCm39) |
E1011* |
probably null |
Het |
| Sec24d |
C |
T |
3: 123,087,244 (GRCm39) |
Q137* |
probably null |
Het |
| Slc35g1 |
C |
A |
19: 38,391,642 (GRCm39) |
A308E |
probably damaging |
Het |
| Smtnl1 |
C |
A |
2: 84,649,089 (GRCm39) |
C55F |
possibly damaging |
Het |
| Sp140l2 |
A |
G |
1: 85,231,907 (GRCm39) |
|
probably benign |
Het |
| Stt3a |
A |
T |
9: 36,645,662 (GRCm39) |
D676E |
probably benign |
Het |
| Sytl2 |
T |
C |
7: 90,031,047 (GRCm39) |
|
probably benign |
Het |
| Trabd2b |
A |
G |
4: 114,266,117 (GRCm39) |
T44A |
probably damaging |
Het |
| Trim12a |
T |
C |
7: 103,953,360 (GRCm39) |
|
probably benign |
Het |
| Tubgcp6 |
A |
G |
15: 88,987,691 (GRCm39) |
V1094A |
probably benign |
Het |
| Vmn1r34 |
A |
G |
6: 66,614,373 (GRCm39) |
Y122H |
probably benign |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp579 |
T |
A |
7: 4,997,257 (GRCm39) |
Q218L |
possibly damaging |
Het |
|
| Other mutations in Tti1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
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 |
2014-05-07 |
Incidental Mutation