Incidental Mutation 'R7291:Gfm2'
ID |
566437 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gfm2
|
Ensembl Gene |
ENSMUSG00000021666 |
Gene Name |
G elongation factor, mitochondrial 2 |
Synonyms |
EFG2, MST027, A930009M04Rik, 6530419G12Rik |
MMRRC Submission |
045322-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.884)
|
Stock # |
R7291 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
97274445-97317703 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 97311532 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 701
(V701I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000048373
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022169]
[ENSMUST00000022170]
[ENSMUST00000042084]
[ENSMUST00000161639]
[ENSMUST00000161825]
|
AlphaFold |
Q8R2Q4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022169
|
SMART Domains |
Protein: ENSMUSP00000022169 Gene: ENSMUSG00000021665
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
31 |
N/A |
INTRINSIC |
Pfam:Glycohydro_20b2
|
35 |
157 |
7.1e-24 |
PFAM |
Pfam:Glyco_hydro_20
|
179 |
496 |
1.2e-94 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000022170
AA Change: V726I
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000022170 Gene: ENSMUSG00000021666 AA Change: V726I
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: V701I
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000048373 Gene: ENSMUSG00000021666 AA Change: V701I
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 |
noncoding transcript
Transcript: ENSMUST00000159321
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160989
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161639
AA Change: V728I
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000125656 Gene: ENSMUSG00000021666 AA Change: V728I
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: V728I
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000125088 Gene: ENSMUSG00000021666 AA Change: V728I
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 |
noncoding transcript
Transcript: ENSMUST00000161843
|
Meta Mutation Damage Score |
0.1748 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
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: 83 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9430069I07Rik |
T |
C |
15: 34,355,699 (GRCm39) |
E51G |
possibly damaging |
Het |
Abca14 |
C |
A |
7: 119,888,832 (GRCm39) |
C1259* |
probably null |
Het |
Ablim1 |
T |
C |
19: 57,204,340 (GRCm39) |
E17G |
probably benign |
Het |
Acsf3 |
G |
A |
8: 123,540,316 (GRCm39) |
V505I |
probably benign |
Het |
Actn1 |
T |
C |
12: 80,220,859 (GRCm39) |
M650V |
probably benign |
Het |
Adamts4 |
G |
A |
1: 171,084,097 (GRCm39) |
V525I |
probably benign |
Het |
Adh1 |
T |
C |
3: 137,988,569 (GRCm39) |
Y181H |
probably damaging |
Het |
Alpl |
G |
A |
4: 137,480,009 (GRCm39) |
R168W |
probably damaging |
Het |
Ate1 |
T |
G |
7: 130,121,661 (GRCm39) |
K11Q |
probably benign |
Het |
Atpaf1 |
T |
A |
4: 115,668,288 (GRCm39) |
F314L |
probably damaging |
Het |
Baiap3 |
T |
A |
17: 25,463,291 (GRCm39) |
D1004V |
probably damaging |
Het |
Bpifb9a |
C |
T |
2: 154,109,616 (GRCm39) |
T504M |
probably damaging |
Het |
C1s2 |
T |
A |
6: 124,602,343 (GRCm39) |
I623F |
probably benign |
Het |
Card11 |
T |
C |
5: 140,886,825 (GRCm39) |
D308G |
probably damaging |
Het |
Cul9 |
C |
T |
17: 46,851,359 (GRCm39) |
V354I |
probably benign |
Het |
Dnah1 |
A |
T |
14: 31,020,662 (GRCm39) |
F1236I |
probably damaging |
Het |
Dync2h1 |
T |
A |
9: 6,929,590 (GRCm39) |
I4266F |
possibly damaging |
Het |
Ear10 |
A |
T |
14: 44,160,377 (GRCm39) |
V150D |
probably damaging |
Het |
Elfn2 |
C |
T |
15: 78,557,183 (GRCm39) |
A455T |
probably benign |
Het |
Erp44 |
A |
G |
4: 48,208,792 (GRCm39) |
Y223H |
probably damaging |
Het |
Fam110b |
T |
A |
4: 5,798,895 (GRCm39) |
H104Q |
probably benign |
Het |
Fcgbp |
A |
G |
7: 27,800,817 (GRCm39) |
N1288D |
probably benign |
Het |
Fcgbpl1 |
A |
C |
7: 27,839,645 (GRCm39) |
D486A |
probably benign |
Het |
Fcrl1 |
T |
C |
3: 87,293,088 (GRCm39) |
|
probably null |
Het |
Fmo2 |
G |
T |
1: 162,715,271 (GRCm39) |
P117Q |
probably benign |
Het |
Fsip2 |
A |
G |
2: 82,810,863 (GRCm39) |
K2394R |
possibly damaging |
Het |
Gab1 |
T |
G |
8: 81,526,780 (GRCm39) |
K106T |
probably damaging |
Het |
Gatad2b |
T |
C |
3: 90,258,721 (GRCm39) |
V248A |
probably damaging |
Het |
Gemin6 |
T |
C |
17: 80,535,204 (GRCm39) |
S55P |
possibly damaging |
Het |
Gm3250 |
T |
C |
10: 77,618,061 (GRCm39) |
T106A |
unknown |
Het |
Gm7356 |
T |
C |
17: 14,221,843 (GRCm39) |
N62S |
probably benign |
Het |
Gsdmc4 |
T |
C |
15: 63,774,689 (GRCm39) |
T31A |
possibly damaging |
Het |
H2-M10.1 |
T |
A |
17: 36,636,621 (GRCm39) |
D61V |
probably damaging |
Het |
Heatr5a |
A |
G |
12: 51,972,122 (GRCm39) |
L716S |
probably damaging |
Het |
Hecw2 |
A |
G |
1: 53,953,753 (GRCm39) |
Y831H |
probably damaging |
Het |
Ifi202b |
C |
T |
1: 173,802,381 (GRCm39) |
S151N |
probably benign |
Het |
Il15ra |
C |
T |
2: 11,723,192 (GRCm39) |
T72I |
probably damaging |
Het |
Ints1 |
A |
G |
5: 139,750,829 (GRCm39) |
L858P |
probably damaging |
Het |
Kat2a |
C |
T |
11: 100,601,726 (GRCm39) |
V230I |
possibly damaging |
Het |
Kcnq2 |
A |
T |
2: 180,730,172 (GRCm39) |
I498N |
possibly damaging |
Het |
Kif26b |
C |
T |
1: 178,506,611 (GRCm39) |
T229I |
possibly damaging |
Het |
Ly75 |
T |
A |
2: 60,160,337 (GRCm39) |
I957F |
probably damaging |
Het |
Map3k12 |
T |
A |
15: 102,410,601 (GRCm39) |
R459W |
probably damaging |
Het |
Mia2 |
T |
A |
12: 59,205,155 (GRCm39) |
|
probably null |
Het |
Mrgprf |
A |
G |
7: 144,861,206 (GRCm39) |
I53V |
unknown |
Het |
Mttp |
A |
G |
3: 137,796,964 (GRCm39) |
L846P |
probably damaging |
Het |
Myrip |
C |
T |
9: 120,246,207 (GRCm39) |
L112F |
probably damaging |
Het |
Nav1 |
A |
G |
1: 135,393,597 (GRCm39) |
F1047S |
probably damaging |
Het |
Nfkbib |
T |
C |
7: 28,458,628 (GRCm39) |
D327G |
possibly damaging |
Het |
Notch1 |
C |
T |
2: 26,366,387 (GRCm39) |
V776I |
probably benign |
Het |
Obsl1 |
G |
T |
1: 75,466,161 (GRCm39) |
D1522E |
probably damaging |
Het |
Or52s6 |
T |
A |
7: 103,091,995 (GRCm39) |
M112L |
probably benign |
Het |
Or5b110-ps1 |
A |
T |
19: 13,259,517 (GRCm39) |
F302I |
unknown |
Het |
Or7e168 |
T |
C |
9: 19,719,944 (GRCm39) |
M110T |
possibly damaging |
Het |
Or9r3 |
T |
C |
10: 129,948,093 (GRCm39) |
K189E |
probably benign |
Het |
Pde7a |
T |
C |
3: 19,281,838 (GRCm39) |
N471D |
probably benign |
Het |
Pla2r1 |
T |
C |
2: 60,360,779 (GRCm39) |
H203R |
probably benign |
Het |
Plch2 |
C |
A |
4: 155,082,929 (GRCm39) |
C573F |
probably damaging |
Het |
Polr1a |
G |
A |
6: 71,918,440 (GRCm39) |
R666Q |
probably benign |
Het |
Prepl |
T |
C |
17: 85,388,668 (GRCm39) |
N145S |
probably benign |
Het |
Psen2 |
C |
T |
1: 180,066,521 (GRCm39) |
V139M |
probably benign |
Het |
Ptgdr |
A |
T |
14: 45,096,649 (GRCm39) |
M21K |
possibly damaging |
Het |
Rapgef6 |
T |
C |
11: 54,582,065 (GRCm39) |
W1331R |
probably benign |
Het |
Rp1l1 |
G |
A |
14: 64,269,747 (GRCm39) |
G1778S |
probably benign |
Het |
Rrbp1 |
A |
T |
2: 143,811,382 (GRCm39) |
M824K |
probably benign |
Het |
Sel1l |
T |
C |
12: 91,815,739 (GRCm39) |
T23A |
probably benign |
Het |
Sele |
A |
G |
1: 163,881,437 (GRCm39) |
S515G |
possibly damaging |
Het |
Slc22a23 |
T |
C |
13: 34,381,822 (GRCm39) |
N421D |
probably damaging |
Het |
Slc35f3 |
T |
G |
8: 127,121,297 (GRCm39) |
L386R |
probably benign |
Het |
Stab2 |
G |
A |
10: 86,782,084 (GRCm39) |
S699L |
probably damaging |
Het |
Synrg |
A |
T |
11: 83,900,207 (GRCm39) |
L726F |
probably damaging |
Het |
Syt3 |
G |
A |
7: 44,045,343 (GRCm39) |
V528M |
probably damaging |
Het |
Szt2 |
A |
G |
4: 118,248,446 (GRCm39) |
I655T |
probably damaging |
Het |
Tbr1 |
T |
C |
2: 61,642,600 (GRCm39) |
S622P |
probably damaging |
Het |
Tex36 |
C |
T |
7: 133,188,952 (GRCm39) |
G207S |
probably benign |
Het |
Trav5n-4 |
G |
A |
14: 53,550,399 (GRCm39) |
W13* |
probably null |
Het |
Trdn |
A |
T |
10: 33,313,732 (GRCm39) |
E500V |
probably null |
Het |
Ugt2b38 |
A |
T |
5: 87,559,754 (GRCm39) |
N379K |
probably damaging |
Het |
Unc13d |
T |
C |
11: 115,964,876 (GRCm39) |
R248G |
possibly damaging |
Het |
Vmn1r195 |
C |
T |
13: 22,462,919 (GRCm39) |
L130F |
probably damaging |
Het |
Vmn2r110 |
T |
C |
17: 20,794,471 (GRCm39) |
I733V |
probably benign |
Het |
Zfp870 |
T |
A |
17: 33,102,828 (GRCm39) |
N167I |
probably damaging |
Het |
Zmynd10 |
A |
T |
9: 107,426,503 (GRCm39) |
M179L |
probably benign |
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 |
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 |
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'- TCAGGCCCTGAAGAAAGCTG -3'
(R):5'- GACCACATTTGAGACACTGTGC -3'
Sequencing Primer
(F):5'- CTGACAAACAGGTGCTGGAACC -3'
(R):5'- GGAAGTAACGTGTTCCCAAGTTCTC -3'
|
Posted On |
2019-06-26 |