Incidental Mutation 'R5310:Gfm2'
| ID |
404807 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gfm2
|
| Ensembl Gene |
ENSMUSG00000021666 |
| Gene Name |
G elongation factor, mitochondrial 2 |
| Synonyms |
EFG2, MST027, A930009M04Rik, 6530419G12Rik |
| MMRRC Submission |
042893-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.884)
|
| Stock # |
R5310 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
97274445-97317703 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 97299659 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 406
(A406T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048373
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022170]
[ENSMUST00000042084]
[ENSMUST00000161639]
[ENSMUST00000161825]
[ENSMUST00000161913]
|
| AlphaFold |
Q8R2Q4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022170
AA Change: A431T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000022170
Gene: ENSMUSG00000021666
AA Change: A431T
| 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: A406T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000048373
Gene: ENSMUSG00000021666
AA Change: A406T
| 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 damaging
Transcript: ENSMUST00000161639
AA Change: A433T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000125656
Gene: ENSMUSG00000021666
AA Change: A433T
| 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: A433T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000125088
Gene: ENSMUSG00000021666
AA Change: A433T
| 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 damaging
Transcript: ENSMUST00000161913
AA Change: A433T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000124253
Gene: ENSMUSG00000021666
AA Change: A433T
| 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 |
0.1769 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.9%
- 20x: 96.7%
|
| Validation Efficiency |
100% (74/74) |
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
A |
T |
7: 119,931,839 (GRCm39) |
I31L |
possibly damaging |
Het |
| Abca17 |
T |
C |
17: 24,500,204 (GRCm39) |
K1329R |
probably benign |
Het |
| Acap2 |
A |
G |
16: 30,952,427 (GRCm39) |
Y197H |
probably benign |
Het |
| Adgrv1 |
A |
G |
13: 81,624,809 (GRCm39) |
V3720A |
possibly damaging |
Het |
| Alms1 |
T |
A |
6: 85,592,350 (GRCm39) |
S870T |
possibly damaging |
Het |
| Anapc4 |
A |
G |
5: 53,016,501 (GRCm39) |
E493G |
probably benign |
Het |
| Ap2a1 |
A |
G |
7: 44,555,489 (GRCm39) |
|
probably null |
Het |
| Arhgef38 |
A |
G |
3: 132,822,227 (GRCm39) |
L179P |
probably damaging |
Het |
| Bicral |
T |
C |
17: 47,124,909 (GRCm39) |
D630G |
possibly damaging |
Het |
| Ccdc97 |
A |
T |
7: 25,415,201 (GRCm39) |
L154Q |
probably damaging |
Het |
| Cd40 |
T |
C |
2: 164,905,483 (GRCm39) |
|
probably null |
Het |
| Celsr1 |
T |
A |
15: 85,810,423 (GRCm39) |
N2155I |
possibly damaging |
Het |
| Cemip |
A |
T |
7: 83,641,241 (GRCm39) |
L261H |
probably damaging |
Het |
| Cep57 |
G |
A |
9: 13,730,164 (GRCm39) |
H98Y |
probably damaging |
Het |
| Chrna7 |
A |
T |
7: 62,755,805 (GRCm39) |
L247Q |
probably damaging |
Het |
| Cyp2c40 |
T |
A |
19: 39,766,474 (GRCm39) |
M374L |
probably damaging |
Het |
| Cyp4f13 |
T |
C |
17: 33,144,795 (GRCm39) |
D372G |
probably damaging |
Het |
| Dazl |
C |
A |
17: 50,588,311 (GRCm39) |
S288I |
probably damaging |
Het |
| Dnah5 |
T |
C |
15: 28,311,474 (GRCm39) |
F1818L |
probably damaging |
Het |
| Echdc1 |
T |
C |
10: 29,210,204 (GRCm39) |
V143A |
possibly damaging |
Het |
| Eif4enif1 |
T |
A |
11: 3,192,687 (GRCm39) |
H838Q |
probably damaging |
Het |
| Erich3 |
A |
T |
3: 154,469,217 (GRCm39) |
D1223V |
probably damaging |
Het |
| Fbxl2 |
A |
G |
9: 113,815,576 (GRCm39) |
I229T |
possibly damaging |
Het |
| Ggnbp2 |
A |
G |
11: 84,760,794 (GRCm39) |
M1T |
probably null |
Het |
| Glb1l2 |
C |
T |
9: 26,708,162 (GRCm39) |
|
probably benign |
Het |
| Gnl2 |
A |
G |
4: 124,946,633 (GRCm39) |
K618R |
probably benign |
Het |
| Greb1 |
A |
T |
12: 16,766,760 (GRCm39) |
I346K |
probably benign |
Het |
| Greb1l |
G |
A |
18: 10,542,427 (GRCm39) |
E1341K |
probably damaging |
Het |
| Gtse1 |
A |
G |
15: 85,757,993 (GRCm39) |
Q533R |
probably benign |
Het |
| Hemgn |
A |
G |
4: 46,403,927 (GRCm39) |
S23P |
possibly damaging |
Het |
| Htr6 |
G |
T |
4: 138,788,977 (GRCm39) |
H359Q |
probably damaging |
Het |
| Ifit1 |
T |
C |
19: 34,626,204 (GRCm39) |
F447L |
probably benign |
Het |
| Kansl1 |
T |
C |
11: 104,315,684 (GRCm39) |
Y118C |
possibly damaging |
Het |
| Khk |
G |
A |
5: 31,084,373 (GRCm39) |
V118M |
probably benign |
Het |
| Klra17 |
T |
A |
6: 129,845,671 (GRCm39) |
K181M |
probably damaging |
Het |
| Lbh |
T |
C |
17: 73,228,287 (GRCm39) |
|
probably null |
Het |
| Lmo2 |
T |
C |
2: 103,806,445 (GRCm39) |
I108T |
probably damaging |
Het |
| Maco1 |
T |
C |
4: 134,564,330 (GRCm39) |
|
probably benign |
Het |
| Mgat5 |
T |
A |
1: 127,315,251 (GRCm39) |
|
probably null |
Het |
| Mink1 |
T |
C |
11: 70,498,169 (GRCm39) |
V525A |
probably benign |
Het |
| Myo10 |
C |
A |
15: 25,778,164 (GRCm39) |
|
probably null |
Het |
| Nlrp2 |
T |
C |
7: 5,328,007 (GRCm39) |
N682S |
probably benign |
Het |
| Nr2e3 |
G |
A |
9: 59,856,617 (GRCm39) |
|
probably benign |
Het |
| Or5p5 |
T |
C |
7: 107,414,171 (GRCm39) |
C129R |
probably damaging |
Het |
| Or6b2b |
T |
C |
1: 92,418,758 (GRCm39) |
T240A |
probably damaging |
Het |
| Pabpc4l |
T |
C |
3: 46,401,276 (GRCm39) |
T123A |
probably benign |
Het |
| Pfas |
G |
A |
11: 68,878,847 (GRCm39) |
S1319F |
probably damaging |
Het |
| Phf3 |
T |
C |
1: 30,842,887 (GRCm39) |
K2024R |
probably damaging |
Het |
| Pld4 |
G |
A |
12: 112,735,046 (GRCm39) |
C501Y |
probably damaging |
Het |
| Psg16 |
C |
T |
7: 16,824,560 (GRCm39) |
R115W |
probably damaging |
Het |
| Rab3gap1 |
G |
A |
1: 127,870,110 (GRCm39) |
|
probably null |
Het |
| Rimkla |
C |
A |
4: 119,335,049 (GRCm39) |
K111N |
probably damaging |
Het |
| Rrm2b |
T |
C |
15: 37,927,571 (GRCm39) |
E113G |
probably damaging |
Het |
| Rspry1 |
C |
T |
8: 95,349,813 (GRCm39) |
T67I |
probably benign |
Het |
| Skint6 |
C |
A |
4: 113,041,965 (GRCm39) |
E292* |
probably null |
Het |
| Skint8 |
C |
A |
4: 111,807,390 (GRCm39) |
L359M |
probably damaging |
Het |
| Slc13a1 |
A |
G |
6: 24,134,373 (GRCm39) |
M170T |
probably benign |
Het |
| Slc15a5 |
T |
C |
6: 138,050,034 (GRCm39) |
N127S |
probably benign |
Het |
| Slc39a10 |
G |
A |
1: 46,875,285 (GRCm39) |
H6Y |
probably damaging |
Het |
| Spata31e2 |
A |
C |
1: 26,724,169 (GRCm39) |
V337G |
probably benign |
Het |
| Sugct |
A |
T |
13: 17,427,145 (GRCm39) |
C338* |
probably null |
Het |
| Tbk1 |
A |
T |
10: 121,391,956 (GRCm39) |
M486K |
probably benign |
Het |
| Terf1 |
A |
T |
1: 15,875,909 (GRCm39) |
E3V |
probably damaging |
Het |
| Thoc5 |
T |
A |
11: 4,860,648 (GRCm39) |
Y246N |
probably damaging |
Het |
| Tmem167b |
G |
A |
3: 108,469,415 (GRCm39) |
|
probably benign |
Het |
| Tmtc1 |
T |
A |
6: 148,256,910 (GRCm39) |
|
probably benign |
Het |
| Zfp322a |
A |
T |
13: 23,541,532 (GRCm39) |
M70K |
possibly damaging |
Het |
| Zfp979 |
A |
T |
4: 147,698,375 (GRCm39) |
H111Q |
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 |
|
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'- CTGGCTGTCCACAACATTAATAGAAAC -3'
(R):5'- AATCCATCCTGTCTGTGGGC -3'
Sequencing Primer
(F):5'- CTGCACGTAAGGAAAAGGTTTGC -3'
(R):5'- ATCCTGTCTGTGGGCTTCTGTAATC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation