Incidental Mutation 'IGL00490:Thg1l'
| ID |
6063 |
| 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 # |
IGL00490
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
45837670-45846321 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 45845048 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 8
(E8G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104877
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000011398]
[ENSMUST00000109254]
|
| AlphaFold |
Q9CY52 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000011398
AA Change: E68G
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000011398
Gene: ENSMUSG00000011254
AA Change: E68G
| 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: ENSMUST00000109254
AA Change: E8G
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000104877
Gene: ENSMUSG00000011254
AA Change: E8G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Thg1
|
2 |
104 |
2.1e-37 |
PFAM |
|
Pfam:Thg1C
|
105 |
235 |
6.5e-54 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131182
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb2 |
A |
G |
4: 129,905,665 (GRCm39) |
E837G |
possibly damaging |
Het |
| Atp13a3 |
A |
G |
16: 30,171,172 (GRCm39) |
M291T |
probably benign |
Het |
| Coq8b |
C |
A |
7: 26,956,902 (GRCm39) |
H518Q |
probably benign |
Het |
| Crebrf |
A |
G |
17: 26,962,067 (GRCm39) |
D388G |
probably damaging |
Het |
| Cyp2d10 |
A |
T |
15: 82,287,515 (GRCm39) |
S244T |
possibly damaging |
Het |
| Ddr2 |
A |
T |
1: 169,832,763 (GRCm39) |
L99H |
probably damaging |
Het |
| Dennd1a |
G |
T |
2: 37,691,164 (GRCm39) |
D251E |
probably damaging |
Het |
| Fam210a |
G |
T |
18: 68,401,983 (GRCm39) |
T210N |
probably damaging |
Het |
| Gigyf2 |
C |
A |
1: 87,364,572 (GRCm39) |
Q951K |
probably damaging |
Het |
| Gramd1b |
T |
A |
9: 40,221,337 (GRCm39) |
I280F |
probably damaging |
Het |
| Gsdmc3 |
T |
A |
15: 63,731,526 (GRCm39) |
K335N |
probably benign |
Het |
| Loxhd1 |
A |
T |
18: 77,518,770 (GRCm39) |
T993S |
possibly damaging |
Het |
| Mfsd6 |
A |
G |
1: 52,747,413 (GRCm39) |
L484P |
probably damaging |
Het |
| Myt1l |
T |
A |
12: 29,877,423 (GRCm39) |
V358E |
unknown |
Het |
| Mzt1 |
A |
G |
14: 99,278,106 (GRCm39) |
|
probably benign |
Het |
| Nrxn2 |
C |
A |
19: 6,523,623 (GRCm39) |
H514Q |
possibly damaging |
Het |
| Nup214 |
G |
A |
2: 31,923,991 (GRCm39) |
E2K |
probably damaging |
Het |
| Pcdhb4 |
G |
T |
18: 37,442,969 (GRCm39) |
G760W |
possibly damaging |
Het |
| Ptger2 |
T |
C |
14: 45,239,198 (GRCm39) |
|
probably benign |
Het |
| Serpinb1c |
T |
C |
13: 33,067,958 (GRCm39) |
K213E |
probably damaging |
Het |
| Smcr8 |
T |
A |
11: 60,669,458 (GRCm39) |
|
probably null |
Het |
| Spef2 |
A |
T |
15: 9,740,621 (GRCm39) |
D46E |
probably damaging |
Het |
| Tbc1d32 |
G |
A |
10: 56,031,861 (GRCm39) |
P689L |
probably damaging |
Het |
| Tep1 |
C |
A |
14: 51,070,930 (GRCm39) |
W2123L |
probably damaging |
Het |
| Tmem236 |
A |
G |
2: 14,224,189 (GRCm39) |
Y326C |
probably damaging |
Het |
| Trip4 |
C |
T |
9: 65,740,692 (GRCm39) |
G573R |
probably damaging |
Het |
| Trrap |
C |
T |
5: 144,762,035 (GRCm39) |
T2320I |
probably benign |
Het |
| Tsnaxip1 |
A |
G |
8: 106,568,816 (GRCm39) |
N435S |
probably damaging |
Het |
| Ube3a |
A |
G |
7: 58,921,858 (GRCm39) |
N77D |
probably damaging |
Het |
| Uvrag |
A |
T |
7: 98,628,948 (GRCm39) |
I373N |
probably damaging |
Het |
|
| Other mutations in Thg1l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
IGL02746:Thg1l
|
APN |
11 |
45,839,054 (GRCm39) |
nonsense |
probably null |
|
|
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 |
2012-04-20 |
Incidental Mutation