Incidental Mutation 'R6108:Gfm2'
ID |
485622 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gfm2
|
Ensembl Gene |
ENSMUSG00000021666 |
Gene Name |
G elongation factor, mitochondrial 2 |
Synonyms |
EFG2, MST027, A930009M04Rik, 6530419G12Rik |
MMRRC Submission |
044258-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.884)
|
Stock # |
R6108 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
97274445-97317703 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 97285930 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 140
(I140V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124253
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022170]
[ENSMUST00000042084]
[ENSMUST00000160139]
[ENSMUST00000161639]
[ENSMUST00000161825]
[ENSMUST00000161913]
[ENSMUST00000161929]
|
AlphaFold |
Q8R2Q4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022170
AA Change: I138V
PolyPhen 2
Score 0.748 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000022170 Gene: ENSMUSG00000021666 AA Change: I138V
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 |
possibly damaging
Transcript: ENSMUST00000042084
AA Change: I140V
PolyPhen 2
Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000048373 Gene: ENSMUSG00000021666 AA Change: I140V
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: ENSMUST00000160139
AA Change: I140V
PolyPhen 2
Score 0.358 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000124426 Gene: ENSMUSG00000021666 AA Change: I140V
Domain | Start | End | E-Value | Type |
Pfam:GTP_EFTU
|
68 |
241 |
3.5e-56 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000160981
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000161639
AA Change: I140V
PolyPhen 2
Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000125656 Gene: ENSMUSG00000021666 AA Change: I140V
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 |
possibly damaging
Transcript: ENSMUST00000161825
AA Change: I140V
PolyPhen 2
Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000125088 Gene: ENSMUSG00000021666 AA Change: I140V
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 |
possibly damaging
Transcript: ENSMUST00000161913
AA Change: I140V
PolyPhen 2
Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000124253 Gene: ENSMUSG00000021666 AA Change: I140V
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
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161929
|
SMART Domains |
Protein: ENSMUSP00000125306 Gene: ENSMUSG00000021666
Domain | Start | End | E-Value | Type |
Pfam:GTP_EFTU
|
68 |
94 |
1.2e-9 |
PFAM |
|
Meta Mutation Damage Score |
0.2375 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.8%
|
Validation Efficiency |
96% (53/55) |
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrv1 |
A |
G |
13: 81,539,814 (GRCm39) |
F5702L |
probably damaging |
Het |
Aptx |
G |
A |
4: 40,694,986 (GRCm39) |
Q117* |
probably null |
Het |
Axin1 |
T |
A |
17: 26,362,214 (GRCm39) |
M186K |
probably damaging |
Het |
Btbd2 |
A |
T |
10: 80,481,365 (GRCm39) |
L249Q |
probably damaging |
Het |
Caprin1 |
C |
T |
2: 103,606,362 (GRCm39) |
V293I |
possibly damaging |
Het |
Ccdc136 |
C |
A |
6: 29,412,449 (GRCm39) |
H334Q |
probably benign |
Het |
Ccdc180 |
A |
G |
4: 45,911,389 (GRCm39) |
N568S |
possibly damaging |
Het |
Cenpf |
A |
T |
1: 189,394,210 (GRCm39) |
F515L |
probably benign |
Het |
Chrm2 |
T |
A |
6: 36,500,230 (GRCm39) |
V29E |
probably damaging |
Het |
Cnot1 |
A |
G |
8: 96,457,048 (GRCm39) |
L1956P |
probably damaging |
Het |
Cyp2d22 |
T |
C |
15: 82,256,106 (GRCm39) |
K176R |
possibly damaging |
Het |
Dnah7a |
A |
T |
1: 53,496,004 (GRCm39) |
I3151N |
probably damaging |
Het |
Dsg1a |
T |
A |
18: 20,473,304 (GRCm39) |
D792E |
probably benign |
Het |
Fam167b |
A |
T |
4: 129,472,101 (GRCm39) |
L23* |
probably null |
Het |
Fermt3 |
C |
A |
19: 6,991,782 (GRCm39) |
R143L |
probably benign |
Het |
Gna14 |
A |
G |
19: 16,580,707 (GRCm39) |
T182A |
probably damaging |
Het |
Hmcn1 |
A |
G |
1: 150,506,978 (GRCm39) |
V3738A |
possibly damaging |
Het |
Hspa4 |
C |
T |
11: 53,152,539 (GRCm39) |
G810D |
probably damaging |
Het |
Igf2bp3 |
A |
G |
6: 49,094,308 (GRCm39) |
I154T |
probably damaging |
Het |
Il1rap |
G |
A |
16: 26,541,457 (GRCm39) |
S566N |
probably damaging |
Het |
Kcnb1 |
G |
A |
2: 166,947,060 (GRCm39) |
T596M |
probably damaging |
Het |
Kcnn1 |
A |
C |
8: 71,307,800 (GRCm39) |
S81A |
probably benign |
Het |
Lmod1 |
G |
A |
1: 135,291,849 (GRCm39) |
G235R |
probably benign |
Het |
Mei1 |
A |
T |
15: 81,959,389 (GRCm39) |
R185S |
possibly damaging |
Het |
Mmrn1 |
G |
A |
6: 60,952,960 (GRCm39) |
V414M |
possibly damaging |
Het |
Mon2 |
C |
A |
10: 122,868,600 (GRCm39) |
M484I |
probably benign |
Het |
Nae1 |
A |
T |
8: 105,254,034 (GRCm39) |
D99E |
probably benign |
Het |
Nsun7 |
T |
A |
5: 66,453,142 (GRCm39) |
I619N |
probably damaging |
Het |
Nudt12 |
C |
A |
17: 59,314,744 (GRCm39) |
R280L |
probably damaging |
Het |
Or1l4 |
T |
C |
2: 37,091,778 (GRCm39) |
V175A |
possibly damaging |
Het |
P2ry1 |
T |
A |
3: 60,911,596 (GRCm39) |
I245N |
probably damaging |
Het |
Plch1 |
C |
T |
3: 63,609,444 (GRCm39) |
R912H |
probably damaging |
Het |
Plek |
T |
A |
11: 16,940,058 (GRCm39) |
Y217F |
probably damaging |
Het |
Plpp1 |
A |
T |
13: 113,003,399 (GRCm39) |
I208F |
possibly damaging |
Het |
Ptges3-ps |
C |
T |
6: 85,821,537 (GRCm39) |
|
noncoding transcript |
Het |
Ptprf |
A |
G |
4: 118,080,453 (GRCm39) |
L1267P |
probably benign |
Het |
Ptprz1 |
A |
T |
6: 23,045,658 (GRCm39) |
S2143C |
probably damaging |
Het |
Scn9a |
T |
C |
2: 66,314,393 (GRCm39) |
D1764G |
probably damaging |
Het |
Serpinb5 |
T |
A |
1: 106,809,458 (GRCm39) |
L288Q |
probably damaging |
Het |
Slc6a20b |
T |
G |
9: 123,425,251 (GRCm39) |
M539L |
probably benign |
Het |
Slfnl1 |
A |
G |
4: 120,390,558 (GRCm39) |
T70A |
probably benign |
Het |
Smtn |
C |
A |
11: 3,479,608 (GRCm39) |
L486F |
probably damaging |
Het |
Sptbn2 |
G |
A |
19: 4,781,420 (GRCm39) |
|
probably null |
Het |
Tas2r144 |
C |
A |
6: 42,192,691 (GRCm39) |
L144I |
possibly damaging |
Het |
Tjp3 |
C |
T |
10: 81,116,980 (GRCm39) |
R183K |
probably benign |
Het |
Tnip3 |
A |
G |
6: 65,502,395 (GRCm39) |
|
probably null |
Het |
Tspan12 |
T |
A |
6: 21,772,770 (GRCm39) |
M212L |
probably benign |
Het |
Ttn |
T |
A |
2: 76,708,385 (GRCm39) |
|
probably benign |
Het |
Vmn1r71 |
T |
C |
7: 10,482,545 (GRCm39) |
M48V |
probably benign |
Het |
Vmn2r10 |
A |
G |
5: 109,143,667 (GRCm39) |
F761S |
probably damaging |
Het |
Vmn2r106 |
G |
A |
17: 20,488,638 (GRCm39) |
P587L |
probably benign |
Het |
Wdr72 |
A |
G |
9: 74,058,950 (GRCm39) |
T348A |
probably damaging |
Het |
Xrn1 |
A |
T |
9: 95,856,480 (GRCm39) |
L333F |
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 |
|
IGL00978:Gfm2
|
APN |
13 |
97,299,485 (GRCm39) |
missense |
probably benign |
0.20 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CCTGAGACCCAGTATGATACACTTG -3'
(R):5'- TGAAGGCTTCACACTGACTG -3'
Sequencing Primer
(F):5'- CACTTGCTTTAAACTAAACTGTGGCC -3'
(R):5'- CTTACAGGAGGTATCTAGAGCCATC -3'
|
Posted On |
2017-08-16 |