Incidental Mutation 'IGL02102:Trnt1'
| ID |
279806 |
| 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 # |
IGL02102
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
106746099-106759435 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to T
at 106755073 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108875
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000013882]
[ENSMUST00000057578]
[ENSMUST00000113239]
[ENSMUST00000113247]
[ENSMUST00000113248]
[ENSMUST00000113249]
[ENSMUST00000204782]
[ENSMUST00000205163]
|
| AlphaFold |
Q8K1J6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000013882
|
| SMART Domains |
Protein: ENSMUSP00000013882
Gene: ENSMUSG00000005362
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
39 |
N/A |
INTRINSIC |
|
LON
|
82 |
319 |
2.33e-41 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000057578
|
| SMART Domains |
Protein: ENSMUSP00000060900
Gene: ENSMUSG00000013736
| 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: ENSMUST00000113239
|
| SMART Domains |
Protein: ENSMUSP00000108865
Gene: ENSMUSG00000005362
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
24 |
40 |
N/A |
INTRINSIC |
|
LON
|
83 |
320 |
2.33e-41 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113247
|
| SMART Domains |
Protein: ENSMUSP00000108873
Gene: ENSMUSG00000013736
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PolyA_pol
|
59 |
182 |
7.7e-37 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000113248
|
| SMART Domains |
Protein: ENSMUSP00000108874
Gene: ENSMUSG00000013736
| 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 null
Transcript: ENSMUST00000113249
|
| SMART Domains |
Protein: ENSMUSP00000108875
Gene: ENSMUSG00000013736
| 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: ENSMUST00000204782
|
| SMART Domains |
Protein: ENSMUSP00000144850
Gene: ENSMUSG00000013736
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts9 |
T |
C |
6: 92,754,420 (GRCm39) |
T1338A |
probably benign |
Het |
| Adcy3 |
G |
A |
12: 4,184,699 (GRCm39) |
C125Y |
probably damaging |
Het |
| Aoc1 |
A |
T |
6: 48,882,896 (GRCm39) |
K257N |
probably damaging |
Het |
| Apob |
T |
C |
12: 8,039,407 (GRCm39) |
V497A |
possibly damaging |
Het |
| Atp8b5 |
T |
A |
4: 43,364,167 (GRCm39) |
V684D |
probably benign |
Het |
| AW551984 |
A |
G |
9: 39,500,987 (GRCm39) |
W763R |
probably damaging |
Het |
| Blm |
G |
A |
7: 80,119,504 (GRCm39) |
T1026M |
probably damaging |
Het |
| Cd160 |
A |
G |
3: 96,712,886 (GRCm39) |
I126T |
possibly damaging |
Het |
| Cdk14 |
T |
C |
5: 5,430,083 (GRCm39) |
K15E |
probably benign |
Het |
| Cnot6l |
T |
C |
5: 96,239,518 (GRCm39) |
K261R |
probably damaging |
Het |
| Cyp3a13 |
T |
G |
5: 137,909,865 (GRCm39) |
T153P |
probably benign |
Het |
| Ddx24 |
A |
G |
12: 103,374,743 (GRCm39) |
|
probably benign |
Het |
| Dido1 |
G |
A |
2: 180,304,040 (GRCm39) |
T1288I |
possibly damaging |
Het |
| Dnajc13 |
A |
G |
9: 104,106,208 (GRCm39) |
V322A |
possibly damaging |
Het |
| Dnajc25 |
T |
A |
4: 59,017,693 (GRCm39) |
Y117* |
probably null |
Het |
| Dsg1a |
A |
G |
18: 20,465,089 (GRCm39) |
N427D |
probably benign |
Het |
| Gabrq |
T |
G |
X: 71,871,151 (GRCm39) |
|
probably null |
Het |
| Glce |
A |
G |
9: 61,977,883 (GRCm39) |
|
probably benign |
Het |
| Gm10477 |
T |
C |
X: 55,570,761 (GRCm39) |
L45P |
probably damaging |
Het |
| Htt |
T |
A |
5: 35,048,825 (GRCm39) |
|
probably benign |
Het |
| Ift140 |
A |
G |
17: 25,252,104 (GRCm39) |
E317G |
probably benign |
Het |
| Jak1 |
A |
G |
4: 101,016,283 (GRCm39) |
M827T |
probably benign |
Het |
| Kalrn |
A |
G |
16: 34,040,592 (GRCm39) |
V932A |
probably damaging |
Het |
| Mdm2 |
A |
C |
10: 117,528,622 (GRCm39) |
S227R |
possibly damaging |
Het |
| Or14a259 |
T |
C |
7: 86,013,074 (GRCm39) |
Y157C |
probably benign |
Het |
| Or4c111 |
A |
G |
2: 88,843,470 (GRCm39) |
|
probably benign |
Het |
| Or5ak25 |
A |
G |
2: 85,268,611 (GRCm39) |
V297A |
probably damaging |
Het |
| Or5g27 |
G |
A |
2: 85,410,017 (GRCm39) |
V145I |
probably damaging |
Het |
| Or5w22 |
T |
C |
2: 87,362,805 (GRCm39) |
F143L |
probably benign |
Het |
| Pdilt |
T |
G |
7: 119,086,173 (GRCm39) |
E514A |
probably benign |
Het |
| Pepd |
A |
G |
7: 34,645,028 (GRCm39) |
D153G |
probably damaging |
Het |
| Ptgis |
A |
T |
2: 167,067,367 (GRCm39) |
V70E |
probably damaging |
Het |
| Rnf112 |
T |
C |
11: 61,342,841 (GRCm39) |
K262E |
probably benign |
Het |
| Setd5 |
G |
T |
6: 113,127,946 (GRCm39) |
G1300* |
probably null |
Het |
| Snx15 |
A |
G |
19: 6,172,104 (GRCm39) |
L113P |
possibly damaging |
Het |
| Sptbn1 |
T |
C |
11: 30,087,427 (GRCm39) |
D1004G |
probably damaging |
Het |
| Ston2 |
A |
C |
12: 91,606,498 (GRCm39) |
*896G |
probably null |
Het |
| Suco |
A |
G |
1: 161,655,274 (GRCm39) |
S1073P |
probably damaging |
Het |
| Susd1 |
A |
C |
4: 59,369,636 (GRCm39) |
D344E |
possibly damaging |
Het |
| Ttll12 |
A |
G |
15: 83,466,264 (GRCm39) |
F399S |
probably damaging |
Het |
| Vmn1r124 |
C |
T |
7: 20,994,467 (GRCm39) |
V26I |
probably benign |
Het |
| Vmn1r52 |
T |
A |
6: 90,156,189 (GRCm39) |
N164K |
possibly damaging |
Het |
| Vmn1r56 |
A |
T |
7: 5,199,335 (GRCm39) |
M94K |
possibly damaging |
Het |
| Vmn1r80 |
T |
C |
7: 11,927,618 (GRCm39) |
F243L |
probably damaging |
Het |
| Zdhhc8 |
G |
A |
16: 18,043,063 (GRCm39) |
S379F |
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 |
|
IGL02610:Trnt1
|
APN |
6 |
106,755,779 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL02933:Trnt1
|
APN |
6 |
106,750,387 (GRCm39) |
missense |
probably benign |
0.40 |
|
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 |
2015-04-16 |
Incidental Mutation