Incidental Mutation 'R3886:Tti1'
ID |
309638 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tti1
|
Ensembl Gene |
ENSMUSG00000027650 |
Gene Name |
TELO2 interacting protein 1 |
Synonyms |
2610036D13Rik |
MMRRC Submission |
040798-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.957)
|
Stock # |
R3886 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
157823723-157870353 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 157850870 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 123
(V123A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000116592
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029179]
[ENSMUST00000109522]
[ENSMUST00000124338]
|
AlphaFold |
Q91V83 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029179
AA Change: V123A
PolyPhen 2
Score 0.738 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000029179 Gene: ENSMUSG00000027650 AA Change: V123A
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 |
possibly damaging
Transcript: ENSMUST00000109522
AA Change: V123A
PolyPhen 2
Score 0.738 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000105148 Gene: ENSMUSG00000027650 AA Change: V123A
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 |
possibly damaging
Transcript: ENSMUST00000124338
AA Change: V123A
PolyPhen 2
Score 0.738 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000116592 Gene: ENSMUSG00000027650 AA Change: V123A
Domain | Start | End | E-Value | Type |
low complexity region
|
89 |
101 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126541
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933407L21Rik |
T |
A |
1: 85,868,273 (GRCm39) |
|
probably null |
Het |
Adam17 |
G |
A |
12: 21,375,588 (GRCm39) |
R744C |
probably damaging |
Het |
Adss2 |
A |
G |
1: 177,595,335 (GRCm39) |
Y402H |
probably damaging |
Het |
Ccdc73 |
A |
T |
2: 104,821,688 (GRCm39) |
T546S |
possibly damaging |
Het |
Cd22 |
T |
C |
7: 30,569,532 (GRCm39) |
D354G |
possibly damaging |
Het |
Chchd6 |
T |
C |
6: 89,444,433 (GRCm39) |
E183G |
probably damaging |
Het |
Col6a5 |
A |
G |
9: 105,808,129 (GRCm39) |
L973P |
unknown |
Het |
Cp |
T |
C |
3: 20,043,275 (GRCm39) |
L1021P |
probably damaging |
Het |
Cplane1 |
T |
A |
15: 8,201,289 (GRCm39) |
V22E |
probably damaging |
Het |
Cps1 |
C |
A |
1: 67,204,659 (GRCm39) |
T493K |
possibly damaging |
Het |
D630045J12Rik |
A |
G |
6: 38,119,633 (GRCm39) |
V1703A |
possibly damaging |
Het |
Dennd1a |
T |
C |
2: 37,748,089 (GRCm39) |
N376S |
possibly damaging |
Het |
Dmxl1 |
T |
A |
18: 50,011,326 (GRCm39) |
M1161K |
probably damaging |
Het |
Ect2l |
C |
T |
10: 18,044,206 (GRCm39) |
V310M |
probably damaging |
Het |
Fn1 |
T |
C |
1: 71,679,465 (GRCm39) |
Y511C |
probably damaging |
Het |
Foxd2 |
T |
C |
4: 114,765,483 (GRCm39) |
H179R |
unknown |
Het |
Gm8674 |
T |
C |
13: 50,056,199 (GRCm39) |
|
noncoding transcript |
Het |
Ice1 |
T |
C |
13: 70,753,489 (GRCm39) |
T866A |
probably benign |
Het |
Jade2 |
C |
T |
11: 51,721,326 (GRCm39) |
V201I |
possibly damaging |
Het |
Kcnb2 |
T |
C |
1: 15,780,639 (GRCm39) |
S504P |
probably damaging |
Het |
Kcng4 |
T |
C |
8: 120,359,986 (GRCm39) |
K130R |
probably benign |
Het |
Lcor |
T |
A |
19: 41,546,795 (GRCm39) |
S126R |
probably damaging |
Het |
Lct |
T |
C |
1: 128,231,963 (GRCm39) |
M629V |
probably damaging |
Het |
Lrch2 |
C |
G |
X: 146,256,003 (GRCm39) |
A437P |
probably damaging |
Het |
Lrrk1 |
C |
T |
7: 65,942,112 (GRCm39) |
V709I |
probably damaging |
Het |
Mdh1 |
A |
G |
11: 21,509,832 (GRCm39) |
V181A |
probably damaging |
Het |
Or10g7 |
A |
G |
9: 39,905,835 (GRCm39) |
H243R |
probably damaging |
Het |
Or4a71 |
T |
A |
2: 89,358,076 (GRCm39) |
H226L |
possibly damaging |
Het |
Ppp1r3a |
A |
C |
6: 14,719,911 (GRCm39) |
D334E |
possibly damaging |
Het |
Pramel17 |
T |
C |
4: 101,692,920 (GRCm39) |
K360R |
probably benign |
Het |
Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
Rbm45 |
A |
G |
2: 76,205,768 (GRCm39) |
S207G |
probably benign |
Het |
Relch |
A |
G |
1: 105,619,938 (GRCm39) |
N331S |
probably benign |
Het |
Robo3 |
G |
A |
9: 37,333,477 (GRCm39) |
Q723* |
probably null |
Het |
Rreb1 |
G |
A |
13: 38,082,482 (GRCm39) |
|
probably null |
Het |
Slc35f2 |
T |
A |
9: 53,724,241 (GRCm39) |
S372T |
probably benign |
Het |
Slitrk5 |
T |
A |
14: 111,917,229 (GRCm39) |
C284* |
probably null |
Het |
Snapc4 |
G |
A |
2: 26,255,510 (GRCm39) |
Q1005* |
probably null |
Het |
Tent4b |
C |
A |
8: 88,927,043 (GRCm39) |
A151E |
probably benign |
Het |
Tnxb |
A |
G |
17: 34,937,885 (GRCm39) |
D3896G |
probably damaging |
Het |
Usp1 |
T |
C |
4: 98,817,973 (GRCm39) |
C147R |
probably damaging |
Het |
Vill |
A |
G |
9: 118,895,782 (GRCm39) |
N106S |
probably benign |
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 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CTGACAATCACACTGAAGGAGG -3'
(R):5'- TTTGCGATTTGCCCTGAAGAC -3'
Sequencing Primer
(F):5'- GGAGAACCTGCAGACACTG -3'
(R):5'- GATTTGCCCTGAAGACCCCAG -3'
|
Posted On |
2015-04-17 |