Incidental Mutation 'IGL02746:Thg1l'
| ID |
306051 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Thg1l
|
| Ensembl Gene |
ENSMUSG00000011254 |
| Gene Name |
tRNA-histidine guanylyltransferase 1-like (S. cerevisiae) |
| Synonyms |
5730409G07Rik, 1700121M19Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02746
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
45837670-45846321 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 45839054 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 219
(C219*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104877
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000011398]
[ENSMUST00000062458]
[ENSMUST00000109254]
[ENSMUST00000129820]
|
| AlphaFold |
Q9CY52 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000011398
AA Change: C279*
|
| SMART Domains |
Protein: ENSMUSP00000011398
Gene: ENSMUSG00000011254
AA Change: C279*
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:Thg1
|
35 |
164 |
1e-53 |
PFAM |
|
Pfam:Thg1C
|
167 |
283 |
2.6e-47 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000062458
|
| SMART Domains |
Protein: ENSMUSP00000057343
Gene: ENSMUSG00000044847
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
23 |
N/A |
INTRINSIC |
|
low complexity region
|
33 |
51 |
N/A |
INTRINSIC |
|
low complexity region
|
65 |
106 |
N/A |
INTRINSIC |
|
Pfam:LSM
|
159 |
240 |
3.6e-8 |
PFAM |
|
low complexity region
|
273 |
306 |
N/A |
INTRINSIC |
|
SCOP:d1b34b_
|
327 |
358 |
2e-3 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000109254
AA Change: C219*
|
| SMART Domains |
Protein: ENSMUSP00000104877
Gene: ENSMUSG00000011254
AA Change: C219*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Thg1
|
2 |
104 |
2.1e-37 |
PFAM |
|
Pfam:Thg1C
|
105 |
235 |
6.5e-54 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129820
|
| SMART Domains |
Protein: ENSMUSP00000117531
Gene: ENSMUSG00000044847
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
23 |
N/A |
INTRINSIC |
|
low complexity region
|
33 |
51 |
N/A |
INTRINSIC |
|
low complexity region
|
65 |
106 |
N/A |
INTRINSIC |
|
SCOP:d1b34b_
|
156 |
225 |
3e-8 |
SMART |
|
Blast:Sm
|
158 |
359 |
1e-104 |
BLAST |
|
SCOP:d1b34b_
|
327 |
358 |
2e-3 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133238
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133851
|
| 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 mitochondrial protein that is induced by high levels of glucose and is associated with diabetic nephropathy. The encoded protein appears to increase mitochondrial biogenesis, which could lead to renal fibrosis. Another function of this protein is that of a guanyltransferase, adding GMP to the 5' end of tRNA(His). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
G |
A |
6: 121,646,462 (GRCm39) |
|
probably benign |
Het |
| Adck5 |
A |
T |
15: 76,473,354 (GRCm39) |
M68L |
probably benign |
Het |
| Aox3 |
T |
C |
1: 58,222,701 (GRCm39) |
S1165P |
possibly damaging |
Het |
| Arhgap23 |
A |
G |
11: 97,345,030 (GRCm39) |
|
probably benign |
Het |
| Brdt |
T |
C |
5: 107,518,190 (GRCm39) |
L771P |
probably benign |
Het |
| Ccdc134 |
T |
A |
15: 82,015,938 (GRCm39) |
|
probably benign |
Het |
| Cdc42bpa |
T |
A |
1: 179,939,312 (GRCm39) |
D41E |
possibly damaging |
Het |
| Cdkn2aipnl |
A |
G |
11: 51,861,047 (GRCm39) |
T106A |
probably damaging |
Het |
| Cox10 |
G |
A |
11: 63,855,357 (GRCm39) |
|
probably benign |
Het |
| Cubn |
C |
A |
2: 13,449,851 (GRCm39) |
C891F |
probably damaging |
Het |
| Cyb5rl |
A |
G |
4: 106,925,836 (GRCm39) |
E6G |
probably benign |
Het |
| Dhrs2 |
T |
C |
14: 55,478,628 (GRCm39) |
S258P |
probably damaging |
Het |
| Dnah10 |
T |
C |
5: 124,807,150 (GRCm39) |
L145P |
possibly damaging |
Het |
| Epc1 |
A |
G |
18: 6,454,317 (GRCm39) |
I129T |
probably benign |
Het |
| Gkn3 |
A |
G |
6: 87,364,339 (GRCm39) |
|
probably benign |
Het |
| Gls2 |
A |
G |
10: 128,036,825 (GRCm39) |
D202G |
probably damaging |
Het |
| Gm45844 |
A |
G |
7: 7,243,178 (GRCm39) |
F24S |
probably damaging |
Het |
| Golph3 |
C |
T |
15: 12,349,501 (GRCm39) |
R174W |
probably damaging |
Het |
| Gpatch4 |
A |
C |
3: 87,961,698 (GRCm39) |
E119A |
possibly damaging |
Het |
| Hemgn |
A |
G |
4: 46,400,740 (GRCm39) |
L40P |
probably damaging |
Het |
| Ifi27l2b |
A |
T |
12: 103,417,493 (GRCm39) |
D231E |
unknown |
Het |
| Klf12 |
T |
C |
14: 100,137,656 (GRCm39) |
I297V |
probably benign |
Het |
| Lzts3 |
T |
C |
2: 130,478,261 (GRCm39) |
N165S |
probably damaging |
Het |
| Nlrp4e |
G |
A |
7: 23,021,264 (GRCm39) |
V584I |
probably benign |
Het |
| Npas4 |
T |
C |
19: 5,036,695 (GRCm39) |
T490A |
probably damaging |
Het |
| Pikfyve |
C |
A |
1: 65,273,431 (GRCm39) |
H615Q |
probably damaging |
Het |
| Plce1 |
T |
A |
19: 38,686,916 (GRCm39) |
L608Q |
probably damaging |
Het |
| Pou2f3 |
T |
G |
9: 43,058,143 (GRCm39) |
Q67H |
probably benign |
Het |
| Rev3l |
T |
C |
10: 39,700,585 (GRCm39) |
L1694P |
probably damaging |
Het |
| Rpl4 |
A |
G |
9: 64,082,932 (GRCm39) |
T117A |
probably benign |
Het |
| Scn5a |
T |
C |
9: 119,379,703 (GRCm39) |
N194D |
probably damaging |
Het |
| Sec16b |
T |
A |
1: 157,373,859 (GRCm39) |
|
probably benign |
Het |
| Slc12a5 |
A |
T |
2: 164,816,836 (GRCm39) |
M97L |
probably benign |
Het |
| Stard13 |
A |
G |
5: 150,970,322 (GRCm39) |
|
probably benign |
Het |
| Stau1 |
A |
C |
2: 166,796,818 (GRCm39) |
|
probably null |
Het |
| Togaram1 |
G |
T |
12: 65,013,270 (GRCm39) |
E174* |
probably null |
Het |
| Vmn1r237 |
T |
C |
17: 21,534,480 (GRCm39) |
S68P |
possibly damaging |
Het |
| Vmn2r3 |
A |
T |
3: 64,167,239 (GRCm39) |
S631T |
possibly damaging |
Het |
|
| Other mutations in Thg1l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00490:Thg1l
|
APN |
11 |
45,845,048 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01111:Thg1l
|
APN |
11 |
45,839,051 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01899:Thg1l
|
APN |
11 |
45,845,018 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02097:Thg1l
|
APN |
11 |
45,841,055 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0547:Thg1l
|
UTSW |
11 |
45,845,018 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1099:Thg1l
|
UTSW |
11 |
45,844,988 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R1998:Thg1l
|
UTSW |
11 |
45,841,030 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2568:Thg1l
|
UTSW |
11 |
45,842,392 (GRCm39) |
missense |
probably benign |
|
|
R4738:Thg1l
|
UTSW |
11 |
45,845,018 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5614:Thg1l
|
UTSW |
11 |
45,841,054 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R6191:Thg1l
|
UTSW |
11 |
45,844,988 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7703:Thg1l
|
UTSW |
11 |
45,846,120 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8218:Thg1l
|
UTSW |
11 |
45,846,277 (GRCm39) |
missense |
probably benign |
|
|
R9347:Thg1l
|
UTSW |
11 |
45,845,288 (GRCm39) |
start gained |
probably benign |
|
|
R9349:Thg1l
|
UTSW |
11 |
45,846,273 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation