Incidental Mutation 'IGL02933:Trnt1'
| ID |
364179 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Trnt1
|
| Ensembl Gene |
ENSMUSG00000013736 |
| Gene Name |
tRNA nucleotidyl transferase, CCA-adding, 1 |
| Synonyms |
CGI-47, 2610044E04Rik, 2410043H24Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.966)
|
| Stock # |
IGL02933
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
106746099-106759435 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 106750387 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 97
(G97D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144850
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057578]
[ENSMUST00000113247]
[ENSMUST00000113248]
[ENSMUST00000113249]
[ENSMUST00000204782]
[ENSMUST00000205163]
|
| AlphaFold |
Q8K1J6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057578
AA Change: G97D
PolyPhen 2
Score 0.386 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000060900
Gene: ENSMUSG00000013736
AA Change: G97D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PolyA_pol
|
59 |
182 |
3.8e-36 |
PFAM |
|
Pfam:PolyA_pol_RNAbd
|
215 |
271 |
1.4e-14 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113247
AA Change: G97D
PolyPhen 2
Score 0.386 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000108873
Gene: ENSMUSG00000013736
AA Change: G97D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PolyA_pol
|
59 |
182 |
7.7e-37 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113248
AA Change: G97D
PolyPhen 2
Score 0.386 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000108874
Gene: ENSMUSG00000013736
AA Change: G97D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PolyA_pol
|
59 |
182 |
2.4e-37 |
PFAM |
|
Pfam:PolyA_pol_RNAbd
|
215 |
272 |
9.3e-15 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113249
AA Change: G97D
PolyPhen 2
Score 0.386 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000108875
Gene: ENSMUSG00000013736
AA Change: G97D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PolyA_pol
|
59 |
182 |
3.8e-36 |
PFAM |
|
Pfam:PolyA_pol_RNAbd
|
215 |
271 |
1.4e-14 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147084
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154026
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204782
AA Change: G97D
PolyPhen 2
Score 0.395 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000144850
Gene: ENSMUSG00000013736
AA Change: G97D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PolyA_pol
|
59 |
134 |
3e-17 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205163
|
| SMART Domains |
Protein: ENSMUSP00000144943
Gene: ENSMUSG00000013736
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1OU5|B
|
30 |
72 |
2e-22 |
PDB |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a CCA-adding enzyme which belongs to the tRNA nucleotidyltransferase/poly(A) polymerase family. This essential enzyme functions by catalyzing the addition of the conserved nucleotide triplet CCA to the 3' terminus of tRNA molecules. Mutations in this gene result in sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700008O03Rik |
G |
T |
7: 44,012,436 (GRCm39) |
S24Y |
possibly damaging |
Het |
| Adam15 |
T |
C |
3: 89,250,790 (GRCm39) |
T609A |
possibly damaging |
Het |
| Ank1 |
C |
T |
8: 23,612,881 (GRCm39) |
T1485I |
possibly damaging |
Het |
| Bbof1 |
A |
G |
12: 84,473,740 (GRCm39) |
N357D |
probably damaging |
Het |
| Btn1a1 |
A |
G |
13: 23,644,697 (GRCm39) |
F267S |
possibly damaging |
Het |
| C2cd2 |
A |
T |
16: 97,693,401 (GRCm39) |
F157I |
probably benign |
Het |
| Cd55 |
T |
C |
1: 130,380,261 (GRCm39) |
E239G |
probably damaging |
Het |
| Cnpy1 |
T |
A |
5: 28,412,119 (GRCm39) |
H138L |
probably benign |
Het |
| Cpne4 |
T |
C |
9: 104,896,966 (GRCm39) |
V373A |
possibly damaging |
Het |
| Dlg5 |
A |
T |
14: 24,208,567 (GRCm39) |
S880T |
probably benign |
Het |
| Etv1 |
C |
T |
12: 38,831,832 (GRCm39) |
T27I |
probably benign |
Het |
| Fam227b |
T |
A |
2: 125,965,908 (GRCm39) |
|
probably null |
Het |
| Flcn |
T |
C |
11: 59,694,583 (GRCm39) |
S130G |
probably damaging |
Het |
| Flvcr2 |
T |
C |
12: 85,849,902 (GRCm39) |
|
probably benign |
Het |
| Git1 |
C |
A |
11: 77,391,902 (GRCm39) |
H241Q |
probably damaging |
Het |
| Gm14496 |
T |
A |
2: 181,642,256 (GRCm39) |
H642Q |
probably benign |
Het |
| Idh1 |
C |
T |
1: 65,201,072 (GRCm39) |
S293N |
probably damaging |
Het |
| Itpr2 |
A |
G |
6: 146,214,402 (GRCm39) |
S1449P |
probably benign |
Het |
| Mmel1 |
T |
A |
4: 154,968,087 (GRCm39) |
L141Q |
probably damaging |
Het |
| Morn4 |
A |
G |
19: 42,064,661 (GRCm39) |
I109T |
probably benign |
Het |
| Mrgprh |
T |
C |
17: 13,096,596 (GRCm39) |
Y279H |
probably damaging |
Het |
| Or1ak2 |
T |
A |
2: 36,827,310 (GRCm39) |
Y60N |
probably damaging |
Het |
| Osbpl8 |
T |
C |
10: 111,117,991 (GRCm39) |
I578T |
probably damaging |
Het |
| Reg2 |
A |
G |
6: 78,384,917 (GRCm39) |
Y153C |
probably damaging |
Het |
| Sall2 |
T |
C |
14: 52,550,484 (GRCm39) |
S902G |
probably benign |
Het |
| Sesn3 |
C |
T |
9: 14,232,504 (GRCm39) |
T259M |
probably damaging |
Het |
| Traf1 |
C |
A |
2: 34,839,107 (GRCm39) |
D73Y |
possibly damaging |
Het |
| Ttll11 |
T |
C |
2: 35,869,422 (GRCm39) |
H72R |
probably benign |
Het |
| Txndc12 |
T |
C |
4: 108,715,193 (GRCm39) |
|
probably null |
Het |
| Zan |
C |
A |
5: 137,426,676 (GRCm39) |
S2490I |
unknown |
Het |
| Zfp955a |
T |
C |
17: 33,462,683 (GRCm39) |
|
probably null |
Het |
| Zfyve26 |
A |
C |
12: 79,326,854 (GRCm39) |
S756R |
possibly damaging |
Het |
| Zmynd8 |
T |
C |
2: 165,670,238 (GRCm39) |
N412S |
possibly damaging |
Het |
|
| Other mutations in Trnt1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00819:Trnt1
|
APN |
6 |
106,753,183 (GRCm39) |
nonsense |
probably null |
|
|
IGL00915:Trnt1
|
APN |
6 |
106,756,387 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01821:Trnt1
|
APN |
6 |
106,751,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02102:Trnt1
|
APN |
6 |
106,755,073 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02610:Trnt1
|
APN |
6 |
106,755,779 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0606:Trnt1
|
UTSW |
6 |
106,754,869 (GRCm39) |
unclassified |
probably benign |
|
|
R0844:Trnt1
|
UTSW |
6 |
106,751,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2144:Trnt1
|
UTSW |
6 |
106,755,000 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2495:Trnt1
|
UTSW |
6 |
106,750,330 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4994:Trnt1
|
UTSW |
6 |
106,755,853 (GRCm39) |
nonsense |
probably null |
|
|
R5294:Trnt1
|
UTSW |
6 |
106,750,375 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5742:Trnt1
|
UTSW |
6 |
106,755,878 (GRCm39) |
nonsense |
probably null |
|
|
R6855:Trnt1
|
UTSW |
6 |
106,754,883 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7491:Trnt1
|
UTSW |
6 |
106,755,865 (GRCm39) |
missense |
probably benign |
|
|
R7492:Trnt1
|
UTSW |
6 |
106,751,493 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R7880:Trnt1
|
UTSW |
6 |
106,746,517 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8212:Trnt1
|
UTSW |
6 |
106,746,832 (GRCm39) |
missense |
probably benign |
|
|
R8863:Trnt1
|
UTSW |
6 |
106,751,443 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-12-18 |
Incidental Mutation