Incidental Mutation 'R1147:Trub2'
| ID |
500202 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trub2
|
| Ensembl Gene |
ENSMUSG00000039826 |
| Gene Name |
TruB pseudouridine (psi) synthase family member 2 |
| Synonyms |
G430055L02Rik |
| MMRRC Submission |
039220-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1147 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
29651235-29677697 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to G
at 29677644 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135521
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028137]
[ENSMUST00000048044]
[ENSMUST00000113807]
[ENSMUST00000143616]
[ENSMUST00000148791]
[ENSMUST00000176312]
[ENSMUST00000156846]
[ENSMUST00000177133]
[ENSMUST00000177467]
[ENSMUST00000176348]
|
| AlphaFold |
Q91WG3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028137
|
| SMART Domains |
Protein: ENSMUSP00000028137
Gene: ENSMUSG00000026798
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
22 |
N/A |
INTRINSIC |
|
Pfam:Coq4
|
39 |
259 |
1.2e-98 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048044
|
| SMART Domains |
Protein: ENSMUSP00000041848
Gene: ENSMUSG00000039826
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TruB_N
|
84 |
233 |
1e-27 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000113803
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113807
|
| SMART Domains |
Protein: ENSMUSP00000109438
Gene: ENSMUSG00000039826
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TruB_N
|
84 |
180 |
5.7e-17 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142694
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143616
|
| SMART Domains |
Protein: ENSMUSP00000120160
Gene: ENSMUSG00000026798
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
22 |
N/A |
INTRINSIC |
|
Pfam:Coq4
|
39 |
135 |
2e-33 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148791
|
| SMART Domains |
Protein: ENSMUSP00000116944
Gene: ENSMUSG00000026798
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
22 |
N/A |
INTRINSIC |
|
Pfam:Coq4
|
39 |
200 |
6.9e-75 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175644
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176312
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156846
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177133
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177467
|
| SMART Domains |
Protein: ENSMUSP00000135521
Gene: ENSMUSG00000039826
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TruB_N
|
84 |
187 |
3.2e-16 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176348
|
| SMART Domains |
Protein: ENSMUSP00000135687
Gene: ENSMUSG00000026798
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
22 |
N/A |
INTRINSIC |
|
Pfam:Coq4
|
39 |
135 |
2e-33 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 97.7%
- 10x: 89.5%
- 20x: 66.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Pseudouridine is an abundant component of rRNAs and tRNAs and is enzymatically generated by isomerization of uridine by pseudouridine synthase (Zucchini et al., 2003 [PubMed 12736709]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam20 |
T |
C |
8: 41,248,655 (GRCm39) |
I255T |
possibly damaging |
Het |
| Aknad1 |
T |
A |
3: 108,659,857 (GRCm39) |
N290K |
possibly damaging |
Het |
| Ano8 |
C |
A |
8: 71,934,661 (GRCm39) |
V447F |
probably damaging |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Ash1l |
A |
T |
3: 88,892,194 (GRCm39) |
M1358L |
possibly damaging |
Het |
| Ccdc110 |
A |
G |
8: 46,397,121 (GRCm39) |
K837E |
possibly damaging |
Het |
| Cd19 |
T |
A |
7: 126,010,217 (GRCm39) |
D384V |
possibly damaging |
Het |
| Ces1f |
C |
T |
8: 93,984,909 (GRCm39) |
V473I |
possibly damaging |
Het |
| Chd6 |
C |
T |
2: 160,832,191 (GRCm39) |
E994K |
probably damaging |
Het |
| Col5a2 |
G |
T |
1: 45,415,931 (GRCm39) |
N1405K |
probably damaging |
Het |
| Dnah7b |
A |
G |
1: 46,379,426 (GRCm39) |
D3720G |
probably damaging |
Het |
| Dsel |
T |
C |
1: 111,789,939 (GRCm39) |
T199A |
possibly damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Flacc1 |
A |
T |
1: 58,708,622 (GRCm39) |
Y215N |
probably damaging |
Het |
| Hrg |
G |
T |
16: 22,779,754 (GRCm39) |
C344F |
probably damaging |
Het |
| Htt |
T |
C |
5: 35,008,596 (GRCm39) |
Y1462H |
probably damaging |
Het |
| Kcnh2 |
T |
A |
5: 24,529,385 (GRCm39) |
I784F |
probably damaging |
Het |
| Kifc3 |
T |
C |
8: 95,864,546 (GRCm39) |
T55A |
probably damaging |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Oog3 |
A |
G |
4: 143,884,982 (GRCm39) |
F318S |
possibly damaging |
Het |
| Or2a20 |
A |
T |
6: 43,194,146 (GRCm39) |
T100S |
probably damaging |
Het |
| Or52w1 |
G |
A |
7: 105,018,484 (GRCm39) |
R308Q |
probably benign |
Het |
| Pde5a |
C |
T |
3: 122,587,962 (GRCm39) |
T376M |
probably damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,400,837 (GRCm39) |
I2204V |
probably null |
Het |
| Ppp1r13l |
A |
G |
7: 19,109,772 (GRCm39) |
D731G |
probably damaging |
Het |
| Ptk6 |
C |
T |
2: 180,837,590 (GRCm39) |
G443D |
probably benign |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Ptprs |
T |
C |
17: 56,730,504 (GRCm39) |
D749G |
probably damaging |
Het |
| Ralgapa1 |
A |
T |
12: 55,749,265 (GRCm39) |
D1212E |
probably damaging |
Het |
| Rsad1 |
T |
C |
11: 94,434,966 (GRCm39) |
Y290C |
probably damaging |
Het |
| Sfi1 |
CCTCTC |
CCTCTCTC |
11: 3,127,419 (GRCm39) |
|
probably benign |
Het |
| Slc6a11 |
T |
A |
6: 114,221,831 (GRCm39) |
I507N |
possibly damaging |
Het |
| Sp140l1 |
C |
G |
1: 85,077,226 (GRCm39) |
K113N |
probably benign |
Het |
| Sybu |
A |
T |
15: 44,609,651 (GRCm39) |
F78I |
probably damaging |
Het |
| Tox |
A |
T |
4: 6,823,055 (GRCm39) |
N87K |
possibly damaging |
Het |
| Trrap |
G |
A |
5: 144,741,576 (GRCm39) |
G1308R |
probably damaging |
Het |
| Vmn2r114 |
A |
T |
17: 23,530,037 (GRCm39) |
H123Q |
probably benign |
Het |
| Vmn2r15 |
T |
A |
5: 109,441,072 (GRCm39) |
Y262F |
probably damaging |
Het |
| Vmn2r33 |
C |
T |
7: 7,557,144 (GRCm39) |
E519K |
probably benign |
Het |
| Zfp106 |
A |
T |
2: 120,351,017 (GRCm39) |
C1545S |
probably damaging |
Het |
|
| Other mutations in Trub2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R1147:Trub2
|
UTSW |
2 |
29,677,644 (GRCm39) |
unclassified |
probably benign |
|
|
R1252:Trub2
|
UTSW |
2 |
29,672,170 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1643:Trub2
|
UTSW |
2 |
29,667,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1869:Trub2
|
UTSW |
2 |
29,667,678 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4694:Trub2
|
UTSW |
2 |
29,668,858 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6983:Trub2
|
UTSW |
2 |
29,677,796 (GRCm39) |
unclassified |
probably benign |
|
|
R7097:Trub2
|
UTSW |
2 |
29,669,838 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R7386:Trub2
|
UTSW |
2 |
29,676,607 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7472:Trub2
|
UTSW |
2 |
29,673,385 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7773:Trub2
|
UTSW |
2 |
29,676,520 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7789:Trub2
|
UTSW |
2 |
29,667,920 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8066:Trub2
|
UTSW |
2 |
29,667,867 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8117:Trub2
|
UTSW |
2 |
29,668,739 (GRCm39) |
splice site |
probably null |
|
|
R8261:Trub2
|
UTSW |
2 |
29,667,725 (GRCm39) |
missense |
probably benign |
|
|
R9015:Trub2
|
UTSW |
2 |
29,668,276 (GRCm39) |
intron |
probably benign |
|
|
R9618:Trub2
|
UTSW |
2 |
29,673,346 (GRCm39) |
missense |
probably benign |
0.33 |
|
R9655:Trub2
|
UTSW |
2 |
29,669,833 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1177:Trub2
|
UTSW |
2 |
29,667,773 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
|
| Posted On |
2017-12-01 |
Incidental Mutation