Incidental Mutation 'IGL00978:Gfm2'
ID |
28900 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Gfm2
|
Ensembl Gene |
ENSMUSG00000021666 |
Gene Name |
G elongation factor, mitochondrial 2 |
Synonyms |
EFG2, MST027, A930009M04Rik, 6530419G12Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.884)
|
Stock # |
IGL00978
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
97274445-97317703 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 97299485 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 402
(I402T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124253
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022170]
[ENSMUST00000042084]
[ENSMUST00000161639]
[ENSMUST00000161825]
[ENSMUST00000161913]
|
AlphaFold |
Q8R2Q4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022170
AA Change: I400T
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000022170 Gene: ENSMUSG00000021666 AA Change: I400T
Domain | Start | End | E-Value | Type |
Pfam:GTP_EFTU
|
66 |
349 |
9.9e-64 |
PFAM |
Pfam:GTP_EFTU_D2
|
379 |
446 |
4.3e-8 |
PFAM |
low complexity region
|
447 |
473 |
N/A |
INTRINSIC |
Pfam:EFG_II
|
482 |
556 |
3.9e-29 |
PFAM |
EFG_IV
|
558 |
677 |
2.94e-17 |
SMART |
EFG_C
|
679 |
766 |
1.9e-20 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000042084
AA Change: I375T
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000048373 Gene: ENSMUSG00000021666 AA Change: I375T
Domain | Start | End | E-Value | Type |
Pfam:GTP_EFTU
|
68 |
324 |
4.6e-64 |
PFAM |
Pfam:GTP_EFTU_D2
|
354 |
421 |
4.2e-8 |
PFAM |
low complexity region
|
422 |
448 |
N/A |
INTRINSIC |
Pfam:EFG_II
|
457 |
531 |
3.7e-29 |
PFAM |
EFG_IV
|
533 |
652 |
2.94e-17 |
SMART |
EFG_C
|
654 |
741 |
1.9e-20 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000160981
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160989
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161639
AA Change: I402T
PolyPhen 2
Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000125656 Gene: ENSMUSG00000021666 AA Change: I402T
Domain | Start | End | E-Value | Type |
Pfam:GTP_EFTU
|
68 |
351 |
1.2e-68 |
PFAM |
low complexity region
|
449 |
475 |
N/A |
INTRINSIC |
Pfam:EFG_II
|
484 |
558 |
4.5e-30 |
PFAM |
EFG_IV
|
560 |
679 |
2.94e-17 |
SMART |
EFG_C
|
681 |
768 |
1.9e-20 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161825
AA Change: I402T
PolyPhen 2
Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000125088 Gene: ENSMUSG00000021666 AA Change: I402T
Domain | Start | End | E-Value | Type |
Pfam:GTP_EFTU
|
68 |
351 |
2.3e-64 |
PFAM |
Pfam:GTP_EFTU_D2
|
381 |
448 |
1.1e-8 |
PFAM |
low complexity region
|
449 |
475 |
N/A |
INTRINSIC |
Pfam:EFG_II
|
484 |
558 |
7.1e-30 |
PFAM |
EFG_IV
|
560 |
679 |
2.94e-17 |
SMART |
EFG_C
|
681 |
738 |
3.46e-2 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161913
AA Change: I402T
PolyPhen 2
Score 0.201 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000124253 Gene: ENSMUSG00000021666 AA Change: I402T
Domain | Start | End | E-Value | Type |
Pfam:GTP_EFTU
|
68 |
351 |
3.3e-64 |
PFAM |
Pfam:GTP_EFTU_D2
|
381 |
448 |
3.2e-8 |
PFAM |
low complexity region
|
449 |
475 |
N/A |
INTRINSIC |
Pfam:EFG_II
|
484 |
532 |
2.1e-13 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161843
|
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, which is a GTPase that plays a role at the termination of mitochondrial translation by mediating the disassembly of ribosomes from messenger RNA . Its role in the regulation of normal mitochondrial function and in disease states attributed to mitochondrial dysfunction is not known. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2013]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
0610009L18Rik |
T |
C |
11: 120,241,773 (GRCm39) |
|
probably benign |
Het |
Alpk2 |
A |
T |
18: 65,424,605 (GRCm39) |
|
probably benign |
Het |
Angptl8 |
T |
C |
9: 21,748,349 (GRCm39) |
|
probably benign |
Het |
AU040320 |
T |
A |
4: 126,722,632 (GRCm39) |
D383E |
probably benign |
Het |
Cep97 |
C |
T |
16: 55,745,323 (GRCm39) |
|
probably benign |
Het |
Clcn4 |
A |
T |
7: 7,290,672 (GRCm39) |
L649H |
probably damaging |
Het |
Col5a2 |
T |
C |
1: 45,415,899 (GRCm39) |
N1416S |
probably benign |
Het |
Erbb2 |
C |
T |
11: 98,326,456 (GRCm39) |
P1027S |
probably damaging |
Het |
Eya1 |
A |
G |
1: 14,340,925 (GRCm39) |
|
probably benign |
Het |
Gmeb2 |
A |
T |
2: 180,900,836 (GRCm39) |
V187E |
probably benign |
Het |
Hectd1 |
T |
C |
12: 51,838,173 (GRCm39) |
H662R |
possibly damaging |
Het |
Ifne |
T |
C |
4: 88,798,268 (GRCm39) |
Q50R |
probably benign |
Het |
Kidins220 |
A |
G |
12: 25,107,473 (GRCm39) |
D1642G |
probably damaging |
Het |
Klhl32 |
T |
A |
4: 24,682,245 (GRCm39) |
D146V |
probably damaging |
Het |
Krt36 |
T |
C |
11: 99,993,774 (GRCm39) |
I355V |
probably damaging |
Het |
Lrrcc1 |
T |
A |
3: 14,601,188 (GRCm39) |
S73R |
possibly damaging |
Het |
Ltbp3 |
A |
T |
19: 5,804,047 (GRCm39) |
H853L |
probably benign |
Het |
Map3k5 |
G |
A |
10: 20,017,313 (GRCm39) |
R1369Q |
probably damaging |
Het |
Mcm8 |
A |
G |
2: 132,663,326 (GRCm39) |
N148S |
probably benign |
Het |
Mylk3 |
A |
T |
8: 86,082,155 (GRCm39) |
L211* |
probably null |
Het |
Nras |
T |
C |
3: 102,966,232 (GRCm39) |
|
probably benign |
Het |
Or2n1c |
A |
T |
17: 38,519,873 (GRCm39) |
I246F |
probably damaging |
Het |
Or52e18 |
A |
T |
7: 104,609,923 (GRCm39) |
N5K |
probably damaging |
Het |
Os9 |
A |
T |
10: 126,956,378 (GRCm39) |
Y66N |
probably damaging |
Het |
Pitpnm1 |
A |
G |
19: 4,151,228 (GRCm39) |
D15G |
possibly damaging |
Het |
Reg3a |
A |
T |
6: 78,359,284 (GRCm39) |
R95* |
probably null |
Het |
Rnf17 |
C |
T |
14: 56,749,728 (GRCm39) |
P1425S |
probably damaging |
Het |
Smad2 |
T |
C |
18: 76,432,846 (GRCm39) |
|
probably benign |
Het |
Ttll5 |
C |
T |
12: 85,980,256 (GRCm39) |
Q76* |
probably null |
Het |
Uri1 |
A |
T |
7: 37,696,156 (GRCm39) |
|
probably benign |
Het |
Vmn2r102 |
G |
T |
17: 19,899,185 (GRCm39) |
|
probably null |
Het |
Vmn2r70 |
T |
G |
7: 85,213,007 (GRCm39) |
M467L |
probably benign |
Het |
Zfp318 |
T |
A |
17: 46,724,652 (GRCm39) |
D2218E |
possibly damaging |
Het |
Zfp692 |
T |
C |
11: 58,204,855 (GRCm39) |
I405T |
possibly damaging |
Het |
Zfp692 |
A |
G |
11: 58,200,824 (GRCm39) |
H235R |
possibly damaging |
Het |
|
Other mutations in Gfm2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00230:Gfm2
|
APN |
13 |
97,291,950 (GRCm39) |
missense |
probably benign |
0.38 |
IGL00781:Gfm2
|
APN |
13 |
97,285,847 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00789:Gfm2
|
APN |
13 |
97,309,566 (GRCm39) |
unclassified |
probably benign |
|
IGL01637:Gfm2
|
APN |
13 |
97,286,917 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02318:Gfm2
|
APN |
13 |
97,299,483 (GRCm39) |
missense |
probably damaging |
1.00 |
R0825:Gfm2
|
UTSW |
13 |
97,279,612 (GRCm39) |
splice site |
probably benign |
|
R1173:Gfm2
|
UTSW |
13 |
97,301,708 (GRCm39) |
splice site |
probably null |
|
R1847:Gfm2
|
UTSW |
13 |
97,299,442 (GRCm39) |
missense |
probably benign |
0.04 |
R1932:Gfm2
|
UTSW |
13 |
97,278,475 (GRCm39) |
missense |
probably damaging |
0.96 |
R2104:Gfm2
|
UTSW |
13 |
97,308,028 (GRCm39) |
missense |
probably damaging |
0.99 |
R2108:Gfm2
|
UTSW |
13 |
97,291,950 (GRCm39) |
missense |
probably benign |
0.38 |
R2877:Gfm2
|
UTSW |
13 |
97,289,757 (GRCm39) |
missense |
possibly damaging |
0.80 |
R2878:Gfm2
|
UTSW |
13 |
97,289,757 (GRCm39) |
missense |
possibly damaging |
0.80 |
R2898:Gfm2
|
UTSW |
13 |
97,309,469 (GRCm39) |
missense |
possibly damaging |
0.85 |
R3931:Gfm2
|
UTSW |
13 |
97,311,532 (GRCm39) |
missense |
probably benign |
0.02 |
R4011:Gfm2
|
UTSW |
13 |
97,279,608 (GRCm39) |
splice site |
probably benign |
|
R4831:Gfm2
|
UTSW |
13 |
97,301,546 (GRCm39) |
missense |
probably damaging |
1.00 |
R4921:Gfm2
|
UTSW |
13 |
97,312,184 (GRCm39) |
missense |
probably damaging |
0.99 |
R5182:Gfm2
|
UTSW |
13 |
97,299,401 (GRCm39) |
missense |
probably damaging |
1.00 |
R5309:Gfm2
|
UTSW |
13 |
97,299,659 (GRCm39) |
missense |
probably damaging |
1.00 |
R5310:Gfm2
|
UTSW |
13 |
97,299,659 (GRCm39) |
missense |
probably damaging |
1.00 |
R5311:Gfm2
|
UTSW |
13 |
97,299,659 (GRCm39) |
missense |
probably damaging |
1.00 |
R5339:Gfm2
|
UTSW |
13 |
97,311,548 (GRCm39) |
missense |
probably benign |
|
R5594:Gfm2
|
UTSW |
13 |
97,301,546 (GRCm39) |
missense |
probably damaging |
1.00 |
R5599:Gfm2
|
UTSW |
13 |
97,299,659 (GRCm39) |
missense |
probably damaging |
1.00 |
R6014:Gfm2
|
UTSW |
13 |
97,288,169 (GRCm39) |
splice site |
probably null |
|
R6041:Gfm2
|
UTSW |
13 |
97,309,131 (GRCm39) |
missense |
probably benign |
0.11 |
R6108:Gfm2
|
UTSW |
13 |
97,285,930 (GRCm39) |
missense |
possibly damaging |
0.79 |
R6345:Gfm2
|
UTSW |
13 |
97,299,461 (GRCm39) |
missense |
probably damaging |
0.96 |
R6596:Gfm2
|
UTSW |
13 |
97,301,657 (GRCm39) |
missense |
probably damaging |
1.00 |
R6937:Gfm2
|
UTSW |
13 |
97,299,572 (GRCm39) |
splice site |
probably null |
|
R6958:Gfm2
|
UTSW |
13 |
97,282,744 (GRCm39) |
missense |
probably damaging |
1.00 |
R6996:Gfm2
|
UTSW |
13 |
97,285,868 (GRCm39) |
missense |
probably damaging |
1.00 |
R7291:Gfm2
|
UTSW |
13 |
97,311,532 (GRCm39) |
missense |
probably benign |
0.02 |
R7365:Gfm2
|
UTSW |
13 |
97,279,529 (GRCm39) |
missense |
probably benign |
0.06 |
R7456:Gfm2
|
UTSW |
13 |
97,282,211 (GRCm39) |
nonsense |
probably null |
|
R7585:Gfm2
|
UTSW |
13 |
97,315,540 (GRCm39) |
missense |
probably benign |
0.03 |
R7597:Gfm2
|
UTSW |
13 |
97,309,086 (GRCm39) |
missense |
probably benign |
0.00 |
R7766:Gfm2
|
UTSW |
13 |
97,286,908 (GRCm39) |
missense |
probably damaging |
1.00 |
R8290:Gfm2
|
UTSW |
13 |
97,282,171 (GRCm39) |
missense |
probably benign |
0.00 |
R8321:Gfm2
|
UTSW |
13 |
97,299,500 (GRCm39) |
missense |
possibly damaging |
0.80 |
R8372:Gfm2
|
UTSW |
13 |
97,301,552 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8385:Gfm2
|
UTSW |
13 |
97,301,519 (GRCm39) |
missense |
probably benign |
0.41 |
R8404:Gfm2
|
UTSW |
13 |
97,299,485 (GRCm39) |
missense |
probably benign |
0.20 |
R9003:Gfm2
|
UTSW |
13 |
97,282,889 (GRCm39) |
unclassified |
probably benign |
|
R9031:Gfm2
|
UTSW |
13 |
97,309,201 (GRCm39) |
critical splice donor site |
probably null |
|
R9115:Gfm2
|
UTSW |
13 |
97,301,707 (GRCm39) |
critical splice donor site |
probably null |
|
R9261:Gfm2
|
UTSW |
13 |
97,299,369 (GRCm39) |
nonsense |
probably null |
|
R9360:Gfm2
|
UTSW |
13 |
97,289,752 (GRCm39) |
missense |
probably damaging |
0.98 |
R9463:Gfm2
|
UTSW |
13 |
97,286,910 (GRCm39) |
missense |
probably damaging |
1.00 |
R9575:Gfm2
|
UTSW |
13 |
97,285,906 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Gfm2
|
UTSW |
13 |
97,299,501 (GRCm39) |
critical splice donor site |
probably null |
|
Z1177:Gfm2
|
UTSW |
13 |
97,299,500 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
Posted On |
2013-04-17 |