Incidental Mutation 'R6996:Gfm2'
| ID |
544236 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gfm2
|
| Ensembl Gene |
ENSMUSG00000021666 |
| Gene Name |
G elongation factor, mitochondrial 2 |
| Synonyms |
EFG2, MST027, A930009M04Rik, 6530419G12Rik |
| MMRRC Submission |
045102-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.884)
|
| Stock # |
R6996 (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 97285868 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Lysine
at position 119
(R119K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124253
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022170]
[ENSMUST00000042084]
[ENSMUST00000160139]
[ENSMUST00000161639]
[ENSMUST00000161825]
[ENSMUST00000161913]
[ENSMUST00000161929]
|
| AlphaFold |
Q8R2Q4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022170
AA Change: R117K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000022170
Gene: ENSMUSG00000021666
AA Change: R117K
| 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: R119K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000048373
Gene: ENSMUSG00000021666
AA Change: R119K
| 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 damaging
Transcript: ENSMUST00000160139
AA Change: R119K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000124426
Gene: ENSMUSG00000021666
AA Change: R119K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GTP_EFTU
|
68 |
241 |
3.5e-56 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160981
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000161639
AA Change: R119K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125656
Gene: ENSMUSG00000021666
AA Change: R119K
| 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: R119K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125088
Gene: ENSMUSG00000021666
AA Change: R119K
| 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 |
probably damaging
Transcript: ENSMUST00000161913
AA Change: R119K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124253
Gene: ENSMUSG00000021666
AA Change: R119K
| 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 |
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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam5 |
G |
A |
8: 25,296,517 (GRCm39) |
S310L |
probably damaging |
Het |
| Adamts16 |
C |
T |
13: 70,946,157 (GRCm39) |
|
probably null |
Het |
| Arrb1 |
C |
A |
7: 99,240,569 (GRCm39) |
D194E |
probably benign |
Het |
| Atp1a3 |
T |
C |
7: 24,697,051 (GRCm39) |
D217G |
probably damaging |
Het |
| Bcar3 |
A |
G |
3: 122,302,033 (GRCm39) |
I123V |
possibly damaging |
Het |
| Bdp1 |
G |
A |
13: 100,180,321 (GRCm39) |
L1833F |
probably damaging |
Het |
| Cdc14a |
T |
C |
3: 116,122,355 (GRCm39) |
Y155C |
probably damaging |
Het |
| Cdo1 |
C |
A |
18: 46,853,380 (GRCm39) |
R126M |
possibly damaging |
Het |
| Cfap99 |
G |
T |
5: 34,484,604 (GRCm39) |
R627L |
probably damaging |
Het |
| Efr3a |
T |
A |
15: 65,720,030 (GRCm39) |
L369* |
probably null |
Het |
| Erich6 |
A |
C |
3: 58,543,516 (GRCm39) |
F185V |
probably damaging |
Het |
| Fam186a |
T |
C |
15: 99,853,374 (GRCm39) |
D122G |
unknown |
Het |
| Fank1 |
A |
G |
7: 133,478,627 (GRCm39) |
I230M |
possibly damaging |
Het |
| Flg2 |
A |
T |
3: 93,109,977 (GRCm39) |
E668D |
unknown |
Het |
| Flg2 |
A |
C |
3: 93,110,256 (GRCm39) |
R761S |
unknown |
Het |
| Gabrr1 |
T |
C |
4: 33,158,157 (GRCm39) |
L260P |
probably damaging |
Het |
| Gm14226 |
A |
G |
2: 154,866,357 (GRCm39) |
T105A |
probably benign |
Het |
| Gm14496 |
A |
G |
2: 181,637,997 (GRCm39) |
N357S |
probably damaging |
Het |
| Gm5916 |
G |
A |
9: 36,039,935 (GRCm39) |
L18F |
probably benign |
Het |
| Golm1 |
A |
T |
13: 59,790,058 (GRCm39) |
N247K |
probably benign |
Het |
| Gpatch2l |
G |
A |
12: 86,290,958 (GRCm39) |
R47H |
probably damaging |
Het |
| Greb1 |
C |
T |
12: 16,773,355 (GRCm39) |
A240T |
probably benign |
Het |
| Gtf3c6 |
T |
C |
10: 40,125,774 (GRCm39) |
M148V |
probably benign |
Het |
| Guca1a |
T |
C |
17: 47,706,102 (GRCm39) |
S126G |
probably benign |
Het |
| Hacl1 |
A |
T |
14: 31,337,380 (GRCm39) |
I393N |
possibly damaging |
Het |
| Hddc3 |
A |
G |
7: 79,993,498 (GRCm39) |
D68G |
possibly damaging |
Het |
| Hsfy2 |
T |
C |
1: 56,675,569 (GRCm39) |
T323A |
possibly damaging |
Het |
| Kcng2 |
T |
C |
18: 80,366,358 (GRCm39) |
|
probably benign |
Het |
| Kdm2a |
G |
T |
19: 4,395,669 (GRCm39) |
P321T |
probably benign |
Het |
| Krt31 |
A |
G |
11: 99,938,558 (GRCm39) |
V345A |
probably benign |
Het |
| Lrrc37 |
A |
T |
11: 103,509,583 (GRCm39) |
L795* |
probably null |
Het |
| Mettl1 |
T |
C |
10: 126,880,887 (GRCm39) |
S193P |
probably benign |
Het |
| Mme |
G |
A |
3: 63,253,523 (GRCm39) |
D456N |
possibly damaging |
Het |
| Mmrn1 |
A |
G |
6: 60,954,367 (GRCm39) |
T883A |
probably benign |
Het |
| Mphosph10 |
C |
G |
7: 64,038,669 (GRCm39) |
E293Q |
probably benign |
Het |
| Muc16 |
C |
A |
9: 18,557,193 (GRCm39) |
K3033N |
unknown |
Het |
| Myo16 |
C |
T |
8: 10,619,496 (GRCm39) |
T1349M |
probably damaging |
Het |
| Myo5c |
T |
C |
9: 75,157,746 (GRCm39) |
I233T |
probably benign |
Het |
| Or4p4b-ps1 |
A |
G |
2: 88,454,189 (GRCm39) |
T181A |
unknown |
Het |
| Or52a33 |
T |
G |
7: 103,289,065 (GRCm39) |
N94T |
probably benign |
Het |
| Or52ac1 |
A |
T |
7: 104,246,018 (GRCm39) |
F123L |
probably benign |
Het |
| Or5b111 |
A |
T |
19: 13,291,036 (GRCm39) |
S204R |
probably benign |
Het |
| Or5h22 |
A |
G |
16: 58,894,555 (GRCm39) |
M296T |
probably benign |
Het |
| Or6c2 |
T |
A |
10: 129,362,732 (GRCm39) |
V212E |
probably damaging |
Het |
| Or7c70 |
C |
A |
10: 78,683,351 (GRCm39) |
V133L |
probably benign |
Het |
| Oxct2b |
A |
G |
4: 123,011,480 (GRCm39) |
I467V |
probably benign |
Het |
| Parp1 |
A |
T |
1: 180,414,936 (GRCm39) |
N425Y |
possibly damaging |
Het |
| Pcdhgc3 |
T |
A |
18: 37,939,656 (GRCm39) |
V19D |
possibly damaging |
Het |
| Pfkl |
T |
A |
10: 77,833,423 (GRCm39) |
I260F |
probably damaging |
Het |
| Pkd1l1 |
C |
T |
11: 8,799,046 (GRCm39) |
G1789R |
probably damaging |
Het |
| Pla1a |
G |
A |
16: 38,217,830 (GRCm39) |
A386V |
probably benign |
Het |
| Pml |
A |
G |
9: 58,142,169 (GRCm39) |
L221P |
probably damaging |
Het |
| Rcn2 |
C |
T |
9: 55,964,845 (GRCm39) |
Q268* |
probably null |
Het |
| Reps1 |
T |
A |
10: 17,969,603 (GRCm39) |
D235E |
probably damaging |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,118 (GRCm39) |
|
probably benign |
Het |
| Sap30bp |
A |
G |
11: 115,824,314 (GRCm39) |
|
probably benign |
Het |
| Scn1a |
A |
T |
2: 66,118,075 (GRCm39) |
S1433T |
probably damaging |
Het |
| Sde2 |
T |
C |
1: 180,678,754 (GRCm39) |
V6A |
probably benign |
Het |
| Sdk1 |
C |
A |
5: 142,197,769 (GRCm39) |
R2141S |
probably benign |
Het |
| Setd2 |
T |
C |
9: 110,379,640 (GRCm39) |
S1152P |
probably damaging |
Het |
| Slc26a2 |
C |
T |
18: 61,334,926 (GRCm39) |
V176I |
probably damaging |
Het |
| Snx7 |
A |
G |
3: 117,640,281 (GRCm39) |
I76T |
possibly damaging |
Het |
| Specc1l |
C |
A |
10: 75,082,113 (GRCm39) |
A520D |
probably benign |
Het |
| Spop |
A |
G |
11: 95,362,136 (GRCm39) |
T56A |
possibly damaging |
Het |
| Syne2 |
T |
A |
12: 76,074,786 (GRCm39) |
D4576E |
probably damaging |
Het |
| Tas2r134 |
A |
C |
2: 51,517,601 (GRCm39) |
M27L |
probably benign |
Het |
| Tecta |
A |
C |
9: 42,278,082 (GRCm39) |
I1142S |
probably benign |
Het |
| Timm44 |
T |
C |
8: 4,316,611 (GRCm39) |
D311G |
possibly damaging |
Het |
| Tmem123 |
C |
G |
9: 7,791,071 (GRCm39) |
T124R |
possibly damaging |
Het |
| Tmem184b |
A |
T |
15: 79,246,959 (GRCm39) |
L370Q |
probably benign |
Het |
| Trim25 |
T |
A |
11: 88,890,329 (GRCm39) |
N5K |
probably benign |
Het |
| Vmn2r93 |
A |
G |
17: 18,524,903 (GRCm39) |
Y187C |
probably damaging |
Het |
| Vpreb1a |
A |
G |
16: 16,686,678 (GRCm39) |
Y71H |
probably damaging |
Het |
| Vpreb1b |
T |
C |
16: 17,798,441 (GRCm39) |
S5P |
probably benign |
Het |
| Xpo7 |
A |
T |
14: 70,906,888 (GRCm39) |
C939S |
probably benign |
Het |
| Zfp78 |
C |
A |
7: 6,381,764 (GRCm39) |
S271R |
probably benign |
Het |
| Zic5 |
A |
T |
14: 122,702,080 (GRCm39) |
M217K |
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 |
|
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'- CATCAAACTTGGACTAATGTGCAGG -3'
(R):5'- TGAAGGCTTCACACTGACTG -3'
Sequencing Primer
(F):5'- AACTTGGACTAATGTGCAGGATGTG -3'
(R):5'- CTTACAGGAGGTATCTAGAGCCATC -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation