Incidental Mutation 'IGL00987:Gfm1'
| ID |
27179 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gfm1
|
| Ensembl Gene |
ENSMUSG00000027774 |
| Gene Name |
G elongation factor, mitochondrial 1 |
| Synonyms |
D3Wsu133e |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00987
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
67337448-67382401 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 67345893 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 197
(H197R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000076503
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077271]
|
| AlphaFold |
Q8K0D5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000077271
AA Change: H197R
PolyPhen 2
Score 0.791 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000076503
Gene: ENSMUSG00000027774
AA Change: H197R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GTP_EFTU
|
45 |
320 |
3.5e-65 |
PFAM |
|
Pfam:GTP_EFTU_D2
|
366 |
432 |
6e-18 |
PFAM |
|
Pfam:EFG_II
|
446 |
520 |
1.9e-31 |
PFAM |
|
EFG_IV
|
522 |
642 |
1.64e-47 |
SMART |
|
EFG_C
|
644 |
731 |
2.16e-24 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161009
|
| SMART Domains |
Protein: ENSMUSP00000125161
Gene: ENSMUSG00000027774
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GTP_EFTU
|
45 |
320 |
3.4e-63 |
PFAM |
|
Pfam:GTP_EFTU_D2
|
366 |
432 |
4.1e-18 |
PFAM |
|
Pfam:EFG_II
|
446 |
520 |
4.4e-33 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Eukaryotes contain two protein translational systems, one in the cytoplasm and one in the mitochondria. Mitochondrial translation is crucial for maintaining mitochondrial function and mutations in this system lead to a breakdown in the respiratory chain-oxidative phosphorylation system and to impaired maintenance of mitochondrial DNA. This gene encodes one of the mitochondrial translation elongation factors. Its role in the regulation of normal mitochondrial function and in different disease states attributed to mitochondrial dysfunction is not known. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot9 |
T |
C |
X: 154,078,177 (GRCm39) |
I241T |
probably benign |
Het |
| Atp5mc3 |
T |
A |
2: 73,740,270 (GRCm39) |
R19* |
probably null |
Het |
| Celf4 |
T |
C |
18: 25,620,007 (GRCm39) |
D420G |
probably damaging |
Het |
| Cideb |
C |
A |
14: 55,992,017 (GRCm39) |
R179L |
possibly damaging |
Het |
| Cmtr1 |
G |
A |
17: 29,916,143 (GRCm39) |
R591H |
probably benign |
Het |
| Dync1li2 |
A |
T |
8: 105,169,130 (GRCm39) |
S34T |
possibly damaging |
Het |
| Eri2 |
A |
G |
7: 119,390,389 (GRCm39) |
Y80H |
probably damaging |
Het |
| Eya2 |
A |
G |
2: 165,596,401 (GRCm39) |
E304G |
probably damaging |
Het |
| Fam135a |
A |
C |
1: 24,094,979 (GRCm39) |
L130V |
probably damaging |
Het |
| Fancb |
A |
T |
X: 163,774,594 (GRCm39) |
K410N |
probably damaging |
Het |
| Gabpb2 |
A |
C |
3: 95,107,502 (GRCm39) |
V191G |
probably damaging |
Het |
| Gm11595 |
A |
G |
11: 99,663,365 (GRCm39) |
V105A |
unknown |
Het |
| Hectd3 |
T |
A |
4: 116,856,840 (GRCm39) |
D462E |
probably damaging |
Het |
| Herc1 |
G |
T |
9: 66,315,334 (GRCm39) |
V1139L |
probably benign |
Het |
| Itgal |
T |
C |
7: 126,901,183 (GRCm39) |
F190L |
probably damaging |
Het |
| Krt87 |
G |
A |
15: 101,336,327 (GRCm39) |
H109Y |
probably benign |
Het |
| Lmf2 |
T |
C |
15: 89,238,771 (GRCm39) |
Y115C |
probably benign |
Het |
| Papolg |
T |
A |
11: 23,826,377 (GRCm39) |
Y259F |
possibly damaging |
Het |
| Parn |
T |
C |
16: 13,485,467 (GRCm39) |
I10V |
probably benign |
Het |
| Pdcd11 |
T |
A |
19: 47,102,989 (GRCm39) |
|
probably benign |
Het |
| Phldb2 |
T |
A |
16: 45,583,465 (GRCm39) |
Q1003L |
possibly damaging |
Het |
| Pigg |
T |
A |
5: 108,489,944 (GRCm39) |
F850I |
probably damaging |
Het |
| Pkp4 |
T |
C |
2: 59,138,701 (GRCm39) |
L317P |
probably damaging |
Het |
| Polr2a |
T |
C |
11: 69,634,620 (GRCm39) |
|
probably benign |
Het |
| Prdm16 |
G |
A |
4: 154,426,426 (GRCm39) |
T453M |
possibly damaging |
Het |
| Rnf144b |
A |
T |
13: 47,360,969 (GRCm39) |
E36D |
possibly damaging |
Het |
| Ryr2 |
G |
A |
13: 11,750,388 (GRCm39) |
T1961I |
probably damaging |
Het |
| Sash1 |
T |
A |
10: 8,627,177 (GRCm39) |
K305I |
probably damaging |
Het |
| Tbc1d7 |
A |
T |
13: 43,312,797 (GRCm39) |
I32N |
probably damaging |
Het |
| Thop1 |
T |
C |
10: 80,917,529 (GRCm39) |
F623L |
probably damaging |
Het |
| Thsd7b |
G |
A |
1: 129,541,016 (GRCm39) |
G297R |
probably damaging |
Het |
| Tln1 |
C |
A |
4: 43,551,297 (GRCm39) |
|
probably benign |
Het |
| Vmn1r183 |
A |
G |
7: 23,754,649 (GRCm39) |
N151D |
probably damaging |
Het |
|
| Other mutations in Gfm1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01377:Gfm1
|
APN |
3 |
67,382,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01397:Gfm1
|
APN |
3 |
67,350,991 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL01738:Gfm1
|
APN |
3 |
67,363,994 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL02679:Gfm1
|
APN |
3 |
67,382,100 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
IGL03271:Gfm1
|
APN |
3 |
67,382,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0389:Gfm1
|
UTSW |
3 |
67,365,251 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0815:Gfm1
|
UTSW |
3 |
67,381,928 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0863:Gfm1
|
UTSW |
3 |
67,381,928 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1626:Gfm1
|
UTSW |
3 |
67,345,977 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1843:Gfm1
|
UTSW |
3 |
67,342,943 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1931:Gfm1
|
UTSW |
3 |
67,363,918 (GRCm39) |
missense |
probably benign |
0.44 |
|
R2097:Gfm1
|
UTSW |
3 |
67,357,079 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2149:Gfm1
|
UTSW |
3 |
67,381,893 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2337:Gfm1
|
UTSW |
3 |
67,342,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3739:Gfm1
|
UTSW |
3 |
67,364,033 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4193:Gfm1
|
UTSW |
3 |
67,339,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4661:Gfm1
|
UTSW |
3 |
67,340,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5023:Gfm1
|
UTSW |
3 |
67,380,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5057:Gfm1
|
UTSW |
3 |
67,380,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5503:Gfm1
|
UTSW |
3 |
67,361,060 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5692:Gfm1
|
UTSW |
3 |
67,342,955 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5771:Gfm1
|
UTSW |
3 |
67,342,895 (GRCm39) |
missense |
probably benign |
0.11 |
|
R6232:Gfm1
|
UTSW |
3 |
67,375,215 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R6234:Gfm1
|
UTSW |
3 |
67,342,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6514:Gfm1
|
UTSW |
3 |
67,380,879 (GRCm39) |
missense |
probably benign |
|
|
R6911:Gfm1
|
UTSW |
3 |
67,358,636 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7295:Gfm1
|
UTSW |
3 |
67,347,514 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7899:Gfm1
|
UTSW |
3 |
67,380,860 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8321:Gfm1
|
UTSW |
3 |
67,337,594 (GRCm39) |
missense |
probably benign |
|
|
R8465:Gfm1
|
UTSW |
3 |
67,339,032 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8473:Gfm1
|
UTSW |
3 |
67,361,051 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R9745:Gfm1
|
UTSW |
3 |
67,358,657 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
| Posted On |
2013-04-17 |
Incidental Mutation