Incidental Mutation 'R5145:Tti1'
ID |
395073 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tti1
|
Ensembl Gene |
ENSMUSG00000027650 |
Gene Name |
TELO2 interacting protein 1 |
Synonyms |
2610036D13Rik |
MMRRC Submission |
042729-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.947)
|
Stock # |
R5145 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
157823723-157870353 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 157850432 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Valine
at position 269
(A269V)
|
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: A269V
PolyPhen 2
Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000029179 Gene: ENSMUSG00000027650 AA Change: A269V
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: A269V
PolyPhen 2
Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000105148 Gene: ENSMUSG00000027650 AA Change: A269V
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
|
Meta Mutation Damage Score |
0.3154 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
Validation Efficiency |
100% (37/37) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts12 |
G |
A |
15: 11,285,962 (GRCm39) |
G724R |
probably damaging |
Het |
Adgrg7 |
T |
A |
16: 56,562,682 (GRCm39) |
I552L |
probably benign |
Het |
Ankrd11 |
A |
G |
8: 123,617,943 (GRCm39) |
|
probably benign |
Het |
Col12a1 |
T |
C |
9: 79,613,582 (GRCm39) |
T88A |
probably benign |
Het |
Col6a5 |
T |
G |
9: 105,811,444 (GRCm39) |
I692L |
unknown |
Het |
Cry2 |
T |
C |
2: 92,243,405 (GRCm39) |
I479V |
probably benign |
Het |
Ddx21 |
T |
C |
10: 62,423,318 (GRCm39) |
|
probably null |
Het |
Efcab12 |
T |
A |
6: 115,800,238 (GRCm39) |
I262F |
probably damaging |
Het |
Eif2ak2 |
T |
C |
17: 79,183,633 (GRCm39) |
D72G |
possibly damaging |
Het |
Fry |
T |
C |
5: 150,293,689 (GRCm39) |
F461L |
probably damaging |
Het |
Gm38706 |
G |
A |
6: 130,460,731 (GRCm39) |
|
noncoding transcript |
Het |
Gm9772 |
C |
T |
17: 22,226,107 (GRCm39) |
C59Y |
probably damaging |
Het |
Meig1 |
T |
C |
2: 3,410,263 (GRCm39) |
E79G |
probably damaging |
Het |
Mfng |
C |
T |
15: 78,648,588 (GRCm39) |
R163H |
probably benign |
Het |
Mfsd2b |
T |
A |
12: 4,915,908 (GRCm39) |
|
probably benign |
Het |
Nfatc2 |
A |
C |
2: 168,431,987 (GRCm39) |
I42S |
probably benign |
Het |
Nlgn3 |
G |
A |
X: 100,361,891 (GRCm39) |
V287I |
probably benign |
Het |
Npy6r |
C |
T |
18: 44,409,686 (GRCm39) |
T369I |
probably benign |
Het |
Or7a36 |
A |
G |
10: 78,820,143 (GRCm39) |
E173G |
probably benign |
Het |
Ptprb |
A |
G |
10: 116,179,820 (GRCm39) |
T1413A |
probably benign |
Het |
Ptprc |
A |
G |
1: 138,017,304 (GRCm39) |
S624P |
probably benign |
Het |
Pum3 |
A |
G |
19: 27,377,169 (GRCm39) |
V441A |
probably damaging |
Het |
Ranbp2 |
T |
A |
10: 58,315,860 (GRCm39) |
D2193E |
probably damaging |
Het |
Rbl1 |
A |
T |
2: 157,017,397 (GRCm39) |
|
probably benign |
Het |
Rnf167 |
T |
C |
11: 70,540,906 (GRCm39) |
|
probably benign |
Het |
Sdr9c7 |
T |
C |
10: 127,738,259 (GRCm39) |
V179A |
probably damaging |
Het |
Sema3c |
A |
G |
5: 17,932,615 (GRCm39) |
N706S |
possibly damaging |
Het |
Stt3a |
T |
C |
9: 36,646,762 (GRCm39) |
Y617C |
probably damaging |
Het |
Tdrd6 |
T |
A |
17: 43,936,966 (GRCm39) |
S1361C |
probably damaging |
Het |
Tha1 |
A |
C |
11: 117,760,502 (GRCm39) |
S241A |
probably damaging |
Het |
Ugt2a1 |
A |
G |
5: 87,633,886 (GRCm39) |
|
probably null |
Het |
Vmn2r10 |
T |
C |
5: 109,143,761 (GRCm39) |
T730A |
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 |
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 |
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'- CCGGACTTTCATCATTCACTAGGC -3'
(R):5'- ATCTCAACTGCGCTGACCAG -3'
Sequencing Primer
(F):5'- TCCCGTGGATTCAACCAGG -3'
(R):5'- TGCGCTGACCAGAATCATC -3'
|
Posted On |
2016-06-21 |