Incidental Mutation 'R6234:Gfm1'
| ID |
504808 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gfm1
|
| Ensembl Gene |
ENSMUSG00000027774 |
| Gene Name |
G elongation factor, mitochondrial 1 |
| Synonyms |
D3Wsu133e |
| MMRRC Submission |
044399-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6234 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
67337448-67382401 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 67342847 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 127
(D127G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000076503
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077271]
|
| AlphaFold |
Q8K0D5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000077271
AA Change: D127G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000076503
Gene: ENSMUSG00000027774
AA Change: D127G
| 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 |
|
| Meta Mutation Damage Score |
0.9725 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.6%
|
| Validation Efficiency |
100% (51/51) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34l |
T |
G |
8: 44,078,949 (GRCm39) |
N425T |
probably benign |
Het |
| Adgb |
A |
C |
10: 10,228,824 (GRCm39) |
|
probably null |
Het |
| Aldoart1 |
A |
G |
4: 72,770,409 (GRCm39) |
I78T |
probably damaging |
Het |
| Bcl2l2 |
A |
G |
14: 55,122,245 (GRCm39) |
D136G |
probably benign |
Het |
| Bltp1 |
A |
G |
3: 37,037,620 (GRCm39) |
T2475A |
probably benign |
Het |
| Cd34 |
A |
T |
1: 194,630,308 (GRCm39) |
I81F |
probably damaging |
Het |
| Chmp1b |
T |
A |
18: 67,339,169 (GRCm39) |
*200R |
probably null |
Het |
| Clic6 |
T |
C |
16: 92,296,110 (GRCm39) |
S257P |
probably benign |
Het |
| Cnga4 |
T |
G |
7: 105,056,906 (GRCm39) |
Y336* |
probably null |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
| Eef1akmt2 |
T |
C |
7: 132,429,585 (GRCm39) |
T215A |
probably damaging |
Het |
| Fbrsl1 |
G |
A |
5: 110,525,917 (GRCm39) |
T95I |
probably damaging |
Het |
| Fer1l6 |
T |
C |
15: 58,432,488 (GRCm39) |
I345T |
probably damaging |
Het |
| Fmn1 |
T |
C |
2: 113,196,000 (GRCm39) |
F567L |
unknown |
Het |
| Ftdc1 |
T |
A |
16: 58,435,034 (GRCm39) |
D97V |
probably benign |
Het |
| Gabrg1 |
A |
T |
5: 70,999,484 (GRCm39) |
L22I |
probably benign |
Het |
| Gm5114 |
T |
A |
7: 39,058,768 (GRCm39) |
T284S |
probably benign |
Het |
| Gm9925 |
A |
T |
18: 74,198,308 (GRCm39) |
|
probably benign |
Het |
| Hc |
T |
C |
2: 34,918,058 (GRCm39) |
I742V |
probably benign |
Het |
| Heatr5a |
A |
T |
12: 51,924,237 (GRCm39) |
M1992K |
possibly damaging |
Het |
| Homer3 |
T |
C |
8: 70,743,815 (GRCm39) |
|
probably null |
Het |
| Hsf5 |
C |
G |
11: 87,508,120 (GRCm39) |
T8S |
probably benign |
Het |
| Hspa4 |
C |
T |
11: 53,153,766 (GRCm39) |
E702K |
probably benign |
Het |
| Il21r |
A |
G |
7: 125,231,757 (GRCm39) |
D395G |
probably damaging |
Het |
| Kctd14 |
T |
A |
7: 97,107,219 (GRCm39) |
V190E |
probably damaging |
Het |
| Mamdc4 |
C |
G |
2: 25,460,092 (GRCm39) |
G57A |
probably damaging |
Het |
| Mroh2a |
T |
C |
1: 88,162,334 (GRCm39) |
|
probably null |
Het |
| Mroh2a |
T |
C |
1: 88,184,476 (GRCm39) |
V1453A |
probably benign |
Het |
| Mtch1 |
A |
T |
17: 29,559,485 (GRCm39) |
|
probably null |
Het |
| Nasp |
G |
A |
4: 116,479,979 (GRCm39) |
A31V |
possibly damaging |
Het |
| Neil3 |
G |
T |
8: 54,061,774 (GRCm39) |
D202E |
probably damaging |
Het |
| Nfkb1 |
C |
T |
3: 135,332,471 (GRCm39) |
V95I |
possibly damaging |
Het |
| Ptpra |
T |
A |
2: 130,379,508 (GRCm39) |
M327K |
probably damaging |
Het |
| Ptprg |
C |
A |
14: 12,213,747 (GRCm38) |
F263L |
probably damaging |
Het |
| Sap30 |
A |
G |
8: 57,938,152 (GRCm39) |
V155A |
probably damaging |
Het |
| Serpinb2 |
G |
A |
1: 107,452,501 (GRCm39) |
V360M |
probably damaging |
Het |
| Stradb |
A |
G |
1: 59,027,707 (GRCm39) |
H79R |
probably damaging |
Het |
| Svep1 |
A |
T |
4: 58,113,458 (GRCm39) |
|
probably null |
Het |
| Tcaf2 |
A |
T |
6: 42,607,308 (GRCm39) |
H215Q |
probably benign |
Het |
| Tdrd5 |
A |
T |
1: 156,120,947 (GRCm39) |
S227T |
possibly damaging |
Het |
| Timmdc1 |
A |
T |
16: 38,338,861 (GRCm39) |
Y76* |
probably null |
Het |
| Tmbim4 |
T |
A |
10: 120,057,628 (GRCm39) |
|
probably null |
Het |
| Tpr |
A |
G |
1: 150,293,790 (GRCm39) |
K854R |
probably benign |
Het |
| Trav6-5 |
A |
G |
14: 53,728,832 (GRCm39) |
T30A |
probably benign |
Het |
| Trrap |
T |
A |
5: 144,776,523 (GRCm39) |
|
probably null |
Het |
| Ube2o |
A |
T |
11: 116,430,316 (GRCm39) |
S1141T |
probably benign |
Het |
| Usp54 |
T |
A |
14: 20,633,518 (GRCm39) |
K339I |
probably damaging |
Het |
| Vwf |
T |
G |
6: 125,634,128 (GRCm39) |
V202G |
unknown |
Het |
| Wdr7 |
T |
C |
18: 63,857,203 (GRCm39) |
L93P |
probably damaging |
Het |
| Zfp871 |
CCACAC |
CC |
17: 32,994,494 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Gfm1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00987:Gfm1
|
APN |
3 |
67,345,893 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGGTTGACAGGGGATCAA -3'
(R):5'- GTTAGAGCCCATTCGGTCC -3'
Sequencing Primer
(F):5'- TAAGAGACTGTGCTGAGCTCATCAC -3'
(R):5'- AGAGCCCATTCGGTCCAGTTTG -3'
|
| Posted On |
2018-02-28 |
Incidental Mutation