Incidental Mutation 'R6345:Gfm2'
| ID |
514124 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gfm2
|
| Ensembl Gene |
ENSMUSG00000021666 |
| Gene Name |
G elongation factor, mitochondrial 2 |
| Synonyms |
EFG2, MST027, A930009M04Rik, 6530419G12Rik |
| MMRRC Submission |
044499-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.900)
|
| Stock # |
R6345 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
97274445-97317703 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 97299461 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 367
(T367M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048373
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022170]
[ENSMUST00000042084]
[ENSMUST00000161639]
[ENSMUST00000161825]
[ENSMUST00000161913]
|
| AlphaFold |
Q8R2Q4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022170
AA Change: T392M
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000022170
Gene: ENSMUSG00000021666
AA Change: T392M
| 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 damaging
Transcript: ENSMUST00000042084
AA Change: T367M
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000048373
Gene: ENSMUSG00000021666
AA Change: T367M
| 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 |
possibly damaging
Transcript: ENSMUST00000161639
AA Change: T394M
PolyPhen 2
Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000125656
Gene: ENSMUSG00000021666
AA Change: T394M
| 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: T394M
PolyPhen 2
Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000125088
Gene: ENSMUSG00000021666
AA Change: T394M
| 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
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000161913
AA Change: T394M
PolyPhen 2
Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000124253
Gene: ENSMUSG00000021666
AA Change: T394M
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.5%
|
| Validation Efficiency |
100% (61/61) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700113H08Rik |
T |
C |
10: 87,061,913 (GRCm39) |
I121T |
probably benign |
Het |
| 4921524L21Rik |
T |
A |
18: 6,626,399 (GRCm39) |
M137K |
possibly damaging |
Het |
| Angpt4 |
C |
A |
2: 151,771,354 (GRCm39) |
N223K |
probably benign |
Het |
| Ankrd6 |
T |
C |
4: 32,810,266 (GRCm39) |
R437G |
probably damaging |
Het |
| Atp9a |
C |
T |
2: 168,518,093 (GRCm39) |
S264N |
probably damaging |
Het |
| AY358078 |
A |
C |
14: 52,063,749 (GRCm39) |
Y465S |
probably damaging |
Het |
| Bin3 |
G |
A |
14: 70,374,676 (GRCm39) |
R235Q |
probably benign |
Het |
| Bsn |
G |
A |
9: 107,984,554 (GRCm39) |
P3167S |
unknown |
Het |
| Camk2g |
G |
A |
14: 20,787,443 (GRCm39) |
R274C |
probably damaging |
Het |
| Ccdc61 |
A |
T |
7: 18,643,914 (GRCm39) |
|
probably null |
Het |
| Ccnjl |
A |
T |
11: 43,476,165 (GRCm39) |
T263S |
probably benign |
Het |
| Col17a1 |
G |
T |
19: 47,641,818 (GRCm39) |
P944T |
possibly damaging |
Het |
| Cyp2c39 |
A |
T |
19: 39,501,615 (GRCm39) |
|
probably null |
Het |
| Cyp2c39 |
G |
T |
19: 39,501,616 (GRCm39) |
|
probably null |
Het |
| Cyp4a32 |
T |
C |
4: 115,459,560 (GRCm39) |
V98A |
possibly damaging |
Het |
| Dnah9 |
A |
G |
11: 65,928,519 (GRCm39) |
V2050A |
probably damaging |
Het |
| F5 |
A |
G |
1: 164,019,520 (GRCm39) |
N665S |
probably benign |
Het |
| Fbxl6 |
A |
T |
15: 76,420,054 (GRCm39) |
C520S |
probably damaging |
Het |
| Fscn2 |
C |
A |
11: 120,252,853 (GRCm39) |
H107N |
probably damaging |
Het |
| Gle1 |
C |
G |
2: 29,826,127 (GRCm39) |
P69A |
probably benign |
Het |
| Gpr156 |
A |
T |
16: 37,807,881 (GRCm39) |
D176V |
probably damaging |
Het |
| Grip2 |
A |
G |
6: 91,742,369 (GRCm39) |
S895P |
possibly damaging |
Het |
| Hfm1 |
C |
T |
5: 106,989,504 (GRCm39) |
G1404D |
probably benign |
Het |
| Ifit1bl1 |
G |
A |
19: 34,571,570 (GRCm39) |
R296* |
probably null |
Het |
| Ighv1-39 |
C |
T |
12: 114,878,479 (GRCm39) |
V31M |
possibly damaging |
Het |
| Itgav |
A |
G |
2: 83,632,380 (GRCm39) |
E956G |
probably damaging |
Het |
| Katnip |
C |
A |
7: 125,352,159 (GRCm39) |
D26E |
probably damaging |
Het |
| Lsm8 |
A |
G |
6: 18,853,644 (GRCm39) |
D86G |
probably damaging |
Het |
| Mdh1b |
T |
G |
1: 63,754,398 (GRCm39) |
H390P |
possibly damaging |
Het |
| Mtrf1l |
A |
T |
10: 5,767,468 (GRCm39) |
I216N |
possibly damaging |
Het |
| Muc16 |
G |
A |
9: 18,566,222 (GRCm39) |
T2099I |
unknown |
Het |
| Myh7 |
T |
C |
14: 55,221,149 (GRCm39) |
R925G |
probably damaging |
Het |
| Myo1h |
T |
A |
5: 114,489,769 (GRCm39) |
I658N |
probably damaging |
Het |
| Myo5a |
A |
T |
9: 75,097,195 (GRCm39) |
D81V |
possibly damaging |
Het |
| Nell1 |
G |
A |
7: 49,625,171 (GRCm39) |
C12Y |
possibly damaging |
Het |
| Obscn |
T |
C |
11: 58,944,522 (GRCm39) |
Y4724C |
probably damaging |
Het |
| Or8k53 |
A |
G |
2: 86,177,892 (GRCm39) |
Y73H |
probably damaging |
Het |
| Pah |
G |
A |
10: 87,412,049 (GRCm39) |
D315N |
probably damaging |
Het |
| Per2 |
A |
G |
1: 91,376,444 (GRCm39) |
V143A |
probably damaging |
Het |
| Plcxd1 |
T |
C |
5: 110,248,165 (GRCm39) |
V38A |
probably benign |
Het |
| Pld1 |
A |
G |
3: 28,184,896 (GRCm39) |
|
probably benign |
Het |
| Plekhh2 |
A |
G |
17: 84,883,215 (GRCm39) |
N761S |
probably benign |
Het |
| Polh |
T |
C |
17: 46,493,664 (GRCm39) |
I318V |
probably benign |
Het |
| Prex1 |
T |
C |
2: 166,414,880 (GRCm39) |
Q1323R |
probably null |
Het |
| Rb1cc1 |
T |
A |
1: 6,333,481 (GRCm39) |
S1440T |
probably benign |
Het |
| Rbm19 |
G |
T |
5: 120,265,105 (GRCm39) |
W382L |
possibly damaging |
Het |
| Rchy1 |
T |
C |
5: 92,105,801 (GRCm39) |
D49G |
probably benign |
Het |
| Ric1 |
A |
G |
19: 29,581,485 (GRCm39) |
D1402G |
probably benign |
Het |
| S1pr3 |
G |
T |
13: 51,573,067 (GRCm39) |
A83S |
probably damaging |
Het |
| S1pr3 |
C |
A |
13: 51,573,068 (GRCm39) |
A83D |
probably damaging |
Het |
| Selplg |
G |
A |
5: 113,958,210 (GRCm39) |
P32L |
probably benign |
Het |
| Serpinb9c |
T |
C |
13: 33,333,978 (GRCm39) |
R355G |
probably damaging |
Het |
| Slx4 |
G |
C |
16: 3,808,714 (GRCm39) |
Q409E |
probably benign |
Het |
| Sntg1 |
A |
C |
1: 8,653,508 (GRCm39) |
L243R |
possibly damaging |
Het |
| Specc1l |
G |
T |
10: 75,084,322 (GRCm39) |
D682Y |
probably damaging |
Het |
| Spen |
C |
T |
4: 141,198,944 (GRCm39) |
V3228I |
possibly damaging |
Het |
| Strip1 |
T |
C |
3: 107,535,516 (GRCm39) |
E69G |
probably damaging |
Het |
| Tasp1 |
C |
A |
2: 139,793,457 (GRCm39) |
V240L |
probably damaging |
Het |
| Tdrd9 |
T |
A |
12: 112,001,042 (GRCm39) |
F787L |
probably damaging |
Het |
| Vmn1r228 |
A |
G |
17: 20,997,144 (GRCm39) |
S125P |
probably damaging |
Het |
| Wdhd1 |
A |
G |
14: 47,489,379 (GRCm39) |
M718T |
probably 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 |
|
R6108:Gfm2
|
UTSW |
13 |
97,285,930 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
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'- AGAAATGTTACATCCTGGGCC -3'
(R):5'- AGTCACTCACTTGTTTAAGCCC -3'
Sequencing Primer
(F):5'- ATGTTACATCCTGGGCCTGGATAAC -3'
(R):5'- GCAATGTTTCCAGCAGTCAG -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation