Incidental Mutation 'R5742:Trnt1'
ID |
445610 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trnt1
|
Ensembl Gene |
ENSMUSG00000013736 |
Gene Name |
tRNA nucleotidyl transferase, CCA-adding, 1 |
Synonyms |
CGI-47, 2610044E04Rik, 2410043H24Rik |
MMRRC Submission |
043352-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.966)
|
Stock # |
R5742 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
106746099-106759435 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 106755878 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Stop codon
at position 311
(L311*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108875
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000013882]
[ENSMUST00000057578]
[ENSMUST00000113239]
[ENSMUST00000113247]
[ENSMUST00000113248]
[ENSMUST00000113249]
[ENSMUST00000151484]
[ENSMUST00000204782]
|
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
AA Change: L311*
|
SMART Domains |
Protein: ENSMUSP00000060900 Gene: ENSMUSG00000013736 AA Change: L311*
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
AA Change: L311*
|
SMART Domains |
Protein: ENSMUSP00000108874 Gene: ENSMUSG00000013736 AA Change: L311*
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
AA Change: L311*
|
SMART Domains |
Protein: ENSMUSP00000108875 Gene: ENSMUSG00000013736 AA Change: L311*
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: ENSMUST00000151484
|
SMART Domains |
Protein: ENSMUSP00000144723 Gene: ENSMUSG00000005362
Domain | Start | End | E-Value | Type |
low complexity region
|
11 |
27 |
N/A |
INTRINSIC |
LON
|
70 |
253 |
3.1e-9 |
SMART |
|
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 |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.8%
|
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933427D14Rik |
C |
T |
11: 72,056,379 (GRCm39) |
A794T |
possibly damaging |
Het |
Abca9 |
T |
G |
11: 110,051,243 (GRCm39) |
E151A |
probably damaging |
Het |
Abcb5 |
A |
G |
12: 118,881,992 (GRCm39) |
V579A |
probably damaging |
Het |
Apob |
T |
A |
12: 8,057,191 (GRCm39) |
L1858Q |
probably damaging |
Het |
Cerk |
C |
T |
15: 86,025,773 (GRCm39) |
E223K |
probably damaging |
Het |
Cntnap2 |
T |
A |
6: 45,897,860 (GRCm39) |
Y179* |
probably null |
Het |
Ddx60 |
A |
T |
8: 62,401,955 (GRCm39) |
Y277F |
probably benign |
Het |
Dlgap1 |
T |
G |
17: 71,025,194 (GRCm39) |
V538G |
probably benign |
Het |
Duox2 |
A |
G |
2: 122,115,402 (GRCm39) |
I1050T |
probably benign |
Het |
Dusp10 |
A |
G |
1: 183,769,853 (GRCm39) |
|
probably null |
Het |
Dync2h1 |
T |
A |
9: 7,165,762 (GRCm39) |
I500F |
possibly damaging |
Het |
Erich3 |
T |
A |
3: 154,438,960 (GRCm39) |
C398S |
probably damaging |
Het |
Fez1 |
G |
A |
9: 36,761,743 (GRCm39) |
|
probably null |
Het |
Fkbp3 |
A |
C |
12: 65,116,812 (GRCm39) |
H41Q |
probably benign |
Het |
Fras1 |
C |
G |
5: 96,916,240 (GRCm39) |
Q3425E |
possibly damaging |
Het |
Fuca1 |
T |
C |
4: 135,650,286 (GRCm39) |
V119A |
probably damaging |
Het |
Grhl2 |
A |
G |
15: 37,328,616 (GRCm39) |
K414R |
probably damaging |
Het |
Heatr5a |
A |
T |
12: 52,002,335 (GRCm39) |
C200* |
probably null |
Het |
Hmgcs2 |
A |
G |
3: 98,204,832 (GRCm39) |
N330S |
probably benign |
Het |
Hspd1 |
A |
G |
1: 55,123,766 (GRCm39) |
V118A |
probably benign |
Het |
Jmjd1c |
A |
G |
10: 67,056,112 (GRCm39) |
T511A |
probably benign |
Het |
Kat6b |
T |
C |
14: 21,718,503 (GRCm39) |
S1061P |
probably damaging |
Het |
Kcnh6 |
T |
C |
11: 105,899,968 (GRCm39) |
V79A |
probably benign |
Het |
Kel |
C |
T |
6: 41,675,961 (GRCm39) |
G243E |
probably damaging |
Het |
Klc4 |
C |
T |
17: 46,953,197 (GRCm39) |
R111Q |
probably damaging |
Het |
Lrp1 |
T |
C |
10: 127,384,216 (GRCm39) |
D3641G |
probably damaging |
Het |
Map2k1 |
A |
T |
9: 64,101,053 (GRCm39) |
D208E |
probably damaging |
Het |
Masp1 |
T |
A |
16: 23,273,675 (GRCm39) |
M588L |
probably benign |
Het |
Mgl2 |
T |
A |
11: 70,027,510 (GRCm39) |
N239K |
probably benign |
Het |
Mki67 |
G |
A |
7: 135,306,102 (GRCm39) |
T625M |
probably benign |
Het |
Ndufb5 |
T |
C |
3: 32,801,930 (GRCm39) |
Y112H |
probably damaging |
Het |
Npr3 |
A |
G |
15: 11,883,494 (GRCm39) |
S312P |
probably damaging |
Het |
Nuf2 |
A |
T |
1: 169,344,191 (GRCm39) |
I125N |
probably damaging |
Het |
Obox1 |
G |
A |
7: 15,289,430 (GRCm39) |
G73D |
possibly damaging |
Het |
Odad4 |
G |
A |
11: 100,436,699 (GRCm39) |
G25R |
possibly damaging |
Het |
Or51a43 |
G |
T |
7: 103,717,412 (GRCm39) |
H275Q |
probably damaging |
Het |
Or8g19 |
T |
A |
9: 39,055,974 (GRCm39) |
F193I |
probably benign |
Het |
Pcdhb15 |
T |
C |
18: 37,607,820 (GRCm39) |
S351P |
probably damaging |
Het |
Phc2 |
G |
T |
4: 128,639,661 (GRCm39) |
R121L |
probably damaging |
Het |
Pla2g2a |
A |
G |
4: 138,560,653 (GRCm39) |
K87E |
probably benign |
Het |
Plekhh2 |
T |
A |
17: 84,905,408 (GRCm39) |
S1101T |
probably damaging |
Het |
Ppp4r1 |
T |
C |
17: 66,144,741 (GRCm39) |
I786T |
probably damaging |
Het |
Prxl2a |
T |
C |
14: 40,724,460 (GRCm39) |
E57G |
possibly damaging |
Het |
Ros1 |
A |
T |
10: 52,018,234 (GRCm39) |
|
probably null |
Het |
Styxl2 |
A |
T |
1: 165,927,023 (GRCm39) |
V863E |
probably benign |
Het |
Vmn1r47 |
T |
A |
6: 89,999,500 (GRCm39) |
L211M |
probably damaging |
Het |
Zfp12 |
A |
G |
5: 143,230,945 (GRCm39) |
E424G |
probably damaging |
Het |
Zranb2 |
T |
A |
3: 157,246,340 (GRCm39) |
Y17* |
probably null |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CTGCATAGTTTAAGAGGTGAGTGAG -3'
(R):5'- CAAACACGGGCAGTTGCATC -3'
Sequencing Primer
(F):5'- AAGAGGTGAGTGAGGGTTTTGTAG -3'
(R):5'- GCATCTGGTTCCCTAGACTAAATGAC -3'
|
Posted On |
2016-11-21 |