Incidental Mutation 'R1252:Trub2'
| ID |
151788 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trub2
|
| Ensembl Gene |
ENSMUSG00000039826 |
| Gene Name |
TruB pseudouridine (psi) synthase family member 2 |
| Synonyms |
G430055L02Rik |
| MMRRC Submission |
039319-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1252 (G1)
|
| Quality Score |
196 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
29651235-29677697 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 29672170 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 141
(F141S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041848
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048044]
[ENSMUST00000113807]
[ENSMUST00000156846]
[ENSMUST00000177467]
[ENSMUST00000176312]
[ENSMUST00000177133]
|
| AlphaFold |
Q91WG3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048044
AA Change: F141S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000041848
Gene: ENSMUSG00000039826
AA Change: F141S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TruB_N
|
84 |
233 |
1e-27 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000113803
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113807
AA Change: F141S
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000109438
Gene: ENSMUSG00000039826
AA Change: F141S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TruB_N
|
84 |
180 |
5.7e-17 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148120
|
| Predicted Effect |
silent
Transcript: ENSMUST00000156846
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175644
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176167
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000177467
AA Change: F141S
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000135521
Gene: ENSMUSG00000039826
AA Change: F141S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TruB_N
|
84 |
187 |
3.2e-16 |
PFAM |
|
| Predicted Effect |
silent
Transcript: ENSMUST00000176312
|
| Predicted Effect |
silent
Transcript: ENSMUST00000177133
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.2%
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb10 |
C |
T |
8: 124,688,791 (GRCm39) |
G495D |
probably damaging |
Het |
| Acsm2 |
C |
T |
7: 119,172,468 (GRCm39) |
H104Y |
probably benign |
Het |
| Adgrb3 |
G |
A |
1: 25,167,909 (GRCm39) |
T1009M |
probably damaging |
Het |
| Arfgef2 |
A |
G |
2: 166,701,877 (GRCm39) |
K755E |
probably damaging |
Het |
| Atm |
A |
T |
9: 53,367,140 (GRCm39) |
D2491E |
probably damaging |
Het |
| Bptf |
A |
G |
11: 106,964,077 (GRCm39) |
S1706P |
probably benign |
Het |
| Capn13 |
C |
T |
17: 73,674,222 (GRCm39) |
G77D |
possibly damaging |
Het |
| Ccdc39 |
T |
C |
3: 33,880,629 (GRCm39) |
K446R |
probably damaging |
Het |
| Cdhr18 |
T |
C |
14: 13,862,444 (GRCm38) |
D370G |
probably benign |
Het |
| Cep135 |
A |
G |
5: 76,741,962 (GRCm39) |
K133E |
possibly damaging |
Het |
| Cyp2c67 |
A |
G |
19: 39,614,585 (GRCm39) |
M314T |
possibly damaging |
Het |
| Dennd5b |
T |
C |
6: 148,945,985 (GRCm39) |
D542G |
probably damaging |
Het |
| Dpys |
A |
T |
15: 39,687,636 (GRCm39) |
N387K |
probably damaging |
Het |
| Erc1 |
A |
T |
6: 119,720,353 (GRCm39) |
D749E |
possibly damaging |
Het |
| Gucy2e |
A |
T |
11: 69,126,485 (GRCm39) |
F298L |
probably benign |
Het |
| Igsf10 |
A |
G |
3: 59,239,269 (GRCm39) |
V304A |
probably benign |
Het |
| Kmt2b |
A |
T |
7: 30,279,912 (GRCm39) |
C1363S |
probably damaging |
Het |
| Krt87 |
A |
G |
15: 101,385,711 (GRCm39) |
Y295H |
probably damaging |
Het |
| Lmo7 |
T |
C |
14: 102,138,019 (GRCm39) |
V396A |
probably damaging |
Het |
| Lpl |
A |
G |
8: 69,345,311 (GRCm39) |
D105G |
probably benign |
Het |
| Lrrc45 |
C |
A |
11: 120,606,297 (GRCm39) |
T135N |
probably benign |
Het |
| Ltn1 |
C |
T |
16: 87,212,918 (GRCm39) |
A548T |
probably benign |
Het |
| Nectin2 |
T |
G |
7: 19,451,523 (GRCm39) |
I504L |
probably benign |
Het |
| Nmbr |
T |
C |
10: 14,636,187 (GRCm39) |
I52T |
probably benign |
Het |
| Nop14 |
A |
T |
5: 34,807,899 (GRCm39) |
N354K |
probably benign |
Het |
| Olfm1 |
A |
G |
2: 28,119,447 (GRCm39) |
I361V |
probably benign |
Het |
| Or8g18 |
G |
C |
9: 39,149,547 (GRCm39) |
P58A |
probably benign |
Het |
| Ovol1 |
T |
C |
19: 5,603,629 (GRCm39) |
T91A |
probably benign |
Het |
| Pigz |
T |
A |
16: 31,760,808 (GRCm39) |
V3E |
possibly damaging |
Het |
| Pip4k2b |
T |
C |
11: 97,635,420 (GRCm39) |
N4S |
probably benign |
Het |
| Slc23a2 |
A |
T |
2: 131,904,117 (GRCm39) |
|
probably null |
Het |
| Slc66a2 |
A |
G |
18: 80,334,813 (GRCm39) |
T211A |
possibly damaging |
Het |
| Speg |
A |
T |
1: 75,403,739 (GRCm39) |
D2640V |
probably damaging |
Het |
| Trip12 |
G |
A |
1: 84,754,071 (GRCm39) |
Q111* |
probably null |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Wdfy4 |
A |
T |
14: 32,693,729 (GRCm39) |
|
probably null |
Het |
| Zfp935 |
A |
G |
13: 62,602,355 (GRCm39) |
F282L |
probably damaging |
Het |
| Zfp946 |
G |
T |
17: 22,672,560 (GRCm39) |
|
probably null |
Het |
| Zkscan4 |
A |
G |
13: 21,668,044 (GRCm39) |
E165G |
probably benign |
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 |
|
|
R1147:Trub2
|
UTSW |
2 |
29,677,644 (GRCm39) |
unclassified |
probably benign |
|
|
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 |
PCR Primer
(F):5'- AGTGTGCTGAAACCCAACAGGC -3'
(R):5'- AGCTCCCATGTCCTTGACAAGTCC -3'
Sequencing Primer
(F):5'- GCACCACTGTGATCTGGAAAG -3'
(R):5'- aagccttggctcagctc -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation