Incidental Mutation 'R2104:Gfm2'
| ID |
230816 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gfm2
|
| Ensembl Gene |
ENSMUSG00000021666 |
| Gene Name |
G elongation factor, mitochondrial 2 |
| Synonyms |
EFG2, MST027, A930009M04Rik, 6530419G12Rik |
| MMRRC Submission |
040108-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.884)
|
| Stock # |
R2104 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
97274445-97317703 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 97308028 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 540
(E540G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125088
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022169]
[ENSMUST00000022170]
[ENSMUST00000042084]
[ENSMUST00000161639]
[ENSMUST00000161825]
[ENSMUST00000161913]
|
| 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 damaging
Transcript: ENSMUST00000022170
AA Change: E538G
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000022170
Gene: ENSMUSG00000021666
AA Change: E538G
| 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: E513G
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000048373
Gene: ENSMUSG00000021666
AA Change: E513G
| 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 damaging
Transcript: ENSMUST00000161639
AA Change: E540G
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000125656
Gene: ENSMUSG00000021666
AA Change: E540G
| 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 damaging
Transcript: ENSMUST00000161825
AA Change: E540G
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000125088
Gene: ENSMUSG00000021666
AA Change: E540G
| 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 |
probably benign
Transcript: ENSMUST00000161913
|
| SMART Domains |
Protein: ENSMUSP00000124253
Gene: ENSMUSG00000021666
| 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 |
|
| Meta Mutation Damage Score |
0.9118 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
100% (80/80) |
| 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: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm3 |
G |
A |
7: 119,383,527 (GRCm39) |
V563I |
probably benign |
Het |
| Amer3 |
T |
C |
1: 34,627,759 (GRCm39) |
V666A |
probably benign |
Het |
| Ankrd16 |
A |
G |
2: 11,784,711 (GRCm39) |
|
probably benign |
Het |
| Ankub1 |
G |
T |
3: 57,580,296 (GRCm39) |
C120* |
probably null |
Het |
| Arhgap31 |
T |
C |
16: 38,445,941 (GRCm39) |
I135V |
probably benign |
Het |
| Atp2c2 |
G |
A |
8: 120,476,584 (GRCm39) |
G633D |
probably benign |
Het |
| Camta1 |
T |
A |
4: 151,537,751 (GRCm39) |
Q143L |
probably damaging |
Het |
| Casp8ap2 |
T |
C |
4: 32,644,727 (GRCm39) |
S1267P |
probably benign |
Het |
| Ccn4 |
A |
G |
15: 66,791,176 (GRCm39) |
E326G |
probably benign |
Het |
| Cdh1 |
T |
A |
8: 107,380,391 (GRCm39) |
|
probably benign |
Het |
| Cdhr4 |
C |
A |
9: 107,873,460 (GRCm39) |
D397E |
probably damaging |
Het |
| Cdk6 |
T |
G |
5: 3,394,387 (GRCm39) |
S7R |
probably benign |
Het |
| Cert1 |
T |
A |
13: 96,771,394 (GRCm39) |
N550K |
probably damaging |
Het |
| Cilp2 |
C |
A |
8: 70,335,442 (GRCm39) |
E519* |
probably null |
Het |
| Clybl |
A |
G |
14: 122,548,718 (GRCm39) |
Y40C |
probably damaging |
Het |
| Ctnnal1 |
T |
C |
4: 56,812,329 (GRCm39) |
*732W |
probably null |
Het |
| Ctns |
A |
T |
11: 73,083,907 (GRCm39) |
S38R |
probably benign |
Het |
| Cwh43 |
A |
T |
5: 73,578,873 (GRCm39) |
K293N |
possibly damaging |
Het |
| Dcaf5 |
G |
T |
12: 80,385,635 (GRCm39) |
D830E |
probably benign |
Het |
| Dmxl2 |
A |
G |
9: 54,322,848 (GRCm39) |
V1512A |
probably damaging |
Het |
| Dnah9 |
A |
T |
11: 65,951,950 (GRCm39) |
C1850S |
probably damaging |
Het |
| Dpp8 |
C |
T |
9: 64,981,849 (GRCm39) |
|
probably null |
Het |
| Enam |
A |
T |
5: 88,649,646 (GRCm39) |
Q385L |
probably damaging |
Het |
| Etv3 |
A |
G |
3: 87,443,369 (GRCm39) |
T318A |
possibly damaging |
Het |
| Exd2 |
T |
G |
12: 80,543,575 (GRCm39) |
I586S |
probably benign |
Het |
| Fat3 |
A |
G |
9: 15,909,813 (GRCm39) |
V2063A |
possibly damaging |
Het |
| Fezf1 |
A |
G |
6: 23,247,331 (GRCm39) |
F248S |
possibly damaging |
Het |
| Flnc |
T |
C |
6: 29,450,734 (GRCm39) |
|
probably null |
Het |
| Foxc2 |
A |
G |
8: 121,844,819 (GRCm39) |
Y489C |
probably damaging |
Het |
| Hrg |
T |
C |
16: 22,774,949 (GRCm39) |
I193T |
probably benign |
Het |
| Ifih1 |
G |
A |
2: 62,440,889 (GRCm39) |
Q426* |
probably null |
Het |
| Ifit1bl2 |
T |
A |
19: 34,596,920 (GRCm39) |
D232V |
probably benign |
Het |
| Igf2bp1 |
A |
G |
11: 95,866,122 (GRCm39) |
V122A |
probably damaging |
Het |
| Inpp1 |
T |
G |
1: 52,838,577 (GRCm39) |
Q24P |
probably damaging |
Het |
| Kifc2 |
A |
G |
15: 76,545,454 (GRCm39) |
D67G |
probably damaging |
Het |
| Lrrc43 |
G |
A |
5: 123,639,177 (GRCm39) |
G402D |
probably benign |
Het |
| Lrrc8c |
C |
T |
5: 105,755,224 (GRCm39) |
T333M |
possibly damaging |
Het |
| Mab21l3 |
G |
T |
3: 101,730,744 (GRCm39) |
A165D |
probably benign |
Het |
| Mcub |
T |
A |
3: 129,712,337 (GRCm39) |
R179S |
probably benign |
Het |
| Mdfi |
G |
C |
17: 48,135,562 (GRCm39) |
A56G |
possibly damaging |
Het |
| Mdn1 |
A |
T |
4: 32,743,843 (GRCm39) |
|
probably null |
Het |
| Meox2 |
A |
G |
12: 37,217,476 (GRCm39) |
T226A |
probably damaging |
Het |
| Mipol1 |
A |
G |
12: 57,352,842 (GRCm39) |
|
probably null |
Het |
| Mms22l |
T |
G |
4: 24,591,084 (GRCm39) |
N1018K |
probably benign |
Het |
| Mn1 |
T |
C |
5: 111,602,617 (GRCm39) |
I1285T |
possibly damaging |
Het |
| Muc20 |
T |
G |
16: 32,614,547 (GRCm39) |
S277R |
probably damaging |
Het |
| Muc6 |
C |
A |
7: 141,213,991 (GRCm39) |
V2845L |
probably benign |
Het |
| Mup5 |
C |
A |
4: 61,751,962 (GRCm39) |
G96C |
probably damaging |
Het |
| Neb |
T |
A |
2: 52,146,826 (GRCm39) |
M2813L |
probably benign |
Het |
| Neb |
C |
A |
2: 52,161,570 (GRCm39) |
R2074L |
probably damaging |
Het |
| Oasl2 |
A |
T |
5: 115,049,063 (GRCm39) |
K168* |
probably null |
Het |
| Or6c5 |
T |
C |
10: 129,074,368 (GRCm39) |
S117P |
probably damaging |
Het |
| P2rx2 |
C |
T |
5: 110,489,007 (GRCm39) |
D203N |
probably damaging |
Het |
| Ptprg |
T |
C |
14: 11,952,897 (GRCm38) |
|
probably null |
Het |
| Rims4 |
C |
T |
2: 163,706,785 (GRCm39) |
|
probably null |
Het |
| Rtn4ip1 |
T |
A |
10: 43,808,402 (GRCm39) |
W60R |
probably benign |
Het |
| Sccpdh |
T |
C |
1: 179,498,162 (GRCm39) |
S69P |
probably benign |
Het |
| Serpina3b |
T |
A |
12: 104,105,069 (GRCm39) |
I415N |
probably benign |
Het |
| Slc22a4 |
T |
C |
11: 53,874,436 (GRCm39) |
|
probably benign |
Het |
| Slc4a5 |
G |
A |
6: 83,274,360 (GRCm39) |
A1076T |
probably benign |
Het |
| Slit1 |
T |
C |
19: 41,590,686 (GRCm39) |
K1329E |
possibly damaging |
Het |
| Synj2bp |
A |
C |
12: 81,548,826 (GRCm39) |
F138V |
probably benign |
Het |
| Taar7a |
T |
C |
10: 23,868,959 (GRCm39) |
I141V |
probably damaging |
Het |
| Tas1r3 |
T |
C |
4: 155,946,588 (GRCm39) |
E339G |
probably benign |
Het |
| Tep1 |
A |
G |
14: 51,088,037 (GRCm39) |
|
probably benign |
Het |
| Tgds |
A |
T |
14: 118,359,149 (GRCm39) |
Y146* |
probably null |
Het |
| Tgm3 |
G |
A |
2: 129,879,403 (GRCm39) |
V332I |
probably benign |
Het |
| Tnnt2 |
A |
G |
1: 135,771,547 (GRCm39) |
|
probably benign |
Het |
| Top1 |
T |
A |
2: 160,546,739 (GRCm39) |
Y340N |
probably damaging |
Het |
| Topbp1 |
T |
C |
9: 103,195,181 (GRCm39) |
|
probably benign |
Het |
| Tpst1 |
A |
G |
5: 130,131,202 (GRCm39) |
N224S |
probably benign |
Het |
| Traf4 |
A |
G |
11: 78,050,840 (GRCm39) |
F439L |
probably damaging |
Het |
| Trim58 |
A |
G |
11: 58,533,964 (GRCm39) |
|
probably benign |
Het |
| Tspan31 |
T |
C |
10: 126,904,004 (GRCm39) |
N205S |
probably damaging |
Het |
| Ube3a |
T |
A |
7: 58,926,225 (GRCm39) |
N334K |
possibly damaging |
Het |
| Ugt2a3 |
A |
T |
5: 87,477,541 (GRCm39) |
|
probably null |
Het |
| Vwf |
G |
A |
6: 125,623,293 (GRCm39) |
V1797I |
probably benign |
Het |
| Wdr81 |
G |
T |
11: 75,343,809 (GRCm39) |
P486Q |
probably damaging |
Het |
| Whamm |
C |
T |
7: 81,241,519 (GRCm39) |
R277* |
probably null |
Het |
| Yipf7 |
T |
A |
5: 69,678,462 (GRCm39) |
N56I |
possibly damaging |
Het |
| Zfp523 |
A |
T |
17: 28,414,190 (GRCm39) |
T75S |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGTAGGAGCCCTCAGAAAGTTTTC -3'
(R):5'- GGAAACTGTGACTTCTGTTTACAC -3'
Sequencing Primer
(F):5'- CCTGGAAATCACTTTGTAGACCAGG -3'
(R):5'- TGTGACTTCTGTTTACACAACTAAAC -3'
|
| Posted On |
2014-09-18 |
Incidental Mutation