Incidental Mutation 'R7456:Gfm2'
| ID |
578156 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gfm2
|
| Ensembl Gene |
ENSMUSG00000021666 |
| Gene Name |
G elongation factor, mitochondrial 2 |
| Synonyms |
EFG2, MST027, A930009M04Rik, 6530419G12Rik |
| MMRRC Submission |
045530-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.884)
|
| Stock # |
R7456 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
97274445-97317703 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 97282211 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 69
(K69*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125656
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022170]
[ENSMUST00000042084]
[ENSMUST00000160139]
[ENSMUST00000161639]
[ENSMUST00000161825]
[ENSMUST00000161913]
[ENSMUST00000161929]
|
| AlphaFold |
Q8R2Q4 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000022170
AA Change: K67*
|
| SMART Domains |
Protein: ENSMUSP00000022170
Gene: ENSMUSG00000021666
AA Change: K67*
| 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 null
Transcript: ENSMUST00000042084
AA Change: K69*
|
| SMART Domains |
Protein: ENSMUSP00000048373
Gene: ENSMUSG00000021666
AA Change: K69*
| 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 null
Transcript: ENSMUST00000160139
AA Change: K69*
|
| SMART Domains |
Protein: ENSMUSP00000124426
Gene: ENSMUSG00000021666
AA Change: K69*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GTP_EFTU
|
68 |
241 |
3.5e-56 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160981
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000161639
AA Change: K69*
|
| SMART Domains |
Protein: ENSMUSP00000125656
Gene: ENSMUSG00000021666
AA Change: K69*
| 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 null
Transcript: ENSMUST00000161825
AA Change: K69*
|
| SMART Domains |
Protein: ENSMUSP00000125088
Gene: ENSMUSG00000021666
AA Change: K69*
| 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 null
Transcript: ENSMUST00000161913
AA Change: K69*
|
| SMART Domains |
Protein: ENSMUSP00000124253
Gene: ENSMUSG00000021666
AA Change: K69*
| 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 null
Transcript: ENSMUST00000161929
AA Change: K69*
|
| SMART Domains |
Protein: ENSMUSP00000125306
Gene: ENSMUSG00000021666
AA Change: K69*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GTP_EFTU
|
68 |
94 |
1.2e-9 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acer2 |
A |
G |
4: 86,792,748 (GRCm39) |
D8G |
possibly damaging |
Het |
| Angpt4 |
T |
C |
2: 151,780,987 (GRCm39) |
Y412H |
probably damaging |
Het |
| Ankef1 |
A |
G |
2: 136,387,734 (GRCm39) |
D217G |
probably benign |
Het |
| Ano2 |
A |
T |
6: 125,940,508 (GRCm39) |
I544F |
probably benign |
Het |
| App |
G |
A |
16: 84,970,448 (GRCm39) |
|
|
Het |
| Arhgef26 |
A |
G |
3: 62,247,476 (GRCm39) |
T187A |
probably benign |
Het |
| Axin1 |
T |
A |
17: 26,362,139 (GRCm39) |
V161E |
probably damaging |
Het |
| Bbs7 |
A |
T |
3: 36,648,527 (GRCm39) |
V407D |
probably damaging |
Het |
| C1qtnf3 |
A |
T |
15: 10,972,137 (GRCm39) |
E141V |
probably benign |
Het |
| C2 |
A |
G |
17: 35,083,558 (GRCm39) |
I469T |
probably damaging |
Het |
| Cc2d1a |
A |
G |
8: 84,866,868 (GRCm39) |
|
probably null |
Het |
| Cd226 |
A |
T |
18: 89,224,747 (GRCm39) |
I10F |
probably damaging |
Het |
| Cep295nl |
T |
C |
11: 118,224,376 (GRCm39) |
K156R |
possibly damaging |
Het |
| Cfap20dc |
A |
T |
14: 8,442,933 (GRCm38) |
L612* |
probably null |
Het |
| Cfap44 |
A |
G |
16: 44,252,305 (GRCm39) |
T805A |
probably benign |
Het |
| Chd9 |
G |
T |
8: 91,659,153 (GRCm39) |
E38* |
probably null |
Het |
| Cldnd2 |
C |
T |
7: 43,091,109 (GRCm39) |
L14F |
not run |
Het |
| Cyp11b2 |
T |
C |
15: 74,725,379 (GRCm39) |
T247A |
probably benign |
Het |
| Dennd11 |
T |
G |
6: 40,383,774 (GRCm39) |
M423L |
probably benign |
Het |
| Dsc1 |
T |
C |
18: 20,219,879 (GRCm39) |
S764G |
probably benign |
Het |
| Dsg3 |
A |
T |
18: 20,664,420 (GRCm39) |
T473S |
probably benign |
Het |
| Fam193a |
A |
T |
5: 34,578,132 (GRCm39) |
I209F |
possibly damaging |
Het |
| Foxs1 |
T |
C |
2: 152,775,045 (GRCm39) |
K3E |
probably benign |
Het |
| Gabrr3 |
C |
T |
16: 59,227,853 (GRCm39) |
Q37* |
probably null |
Het |
| Gcm2 |
A |
T |
13: 41,256,751 (GRCm39) |
W333R |
probably benign |
Het |
| Gcn1 |
C |
T |
5: 115,743,005 (GRCm39) |
Q1559* |
probably null |
Het |
| Gm14295 |
T |
G |
2: 176,500,943 (GRCm39) |
C144W |
possibly damaging |
Het |
| Gm32742 |
G |
A |
9: 51,071,270 (GRCm39) |
T5I |
probably damaging |
Het |
| Gm5093 |
T |
C |
17: 46,750,679 (GRCm39) |
D116G |
probably damaging |
Het |
| Gsn |
A |
T |
2: 35,172,718 (GRCm39) |
K3N |
possibly damaging |
Het |
| H2-M2 |
C |
T |
17: 37,792,552 (GRCm39) |
D240N |
possibly damaging |
Het |
| Habp2 |
G |
C |
19: 56,307,957 (GRCm39) |
G482R |
probably damaging |
Het |
| Hnrnpm |
A |
T |
17: 33,865,622 (GRCm39) |
Y680N |
possibly damaging |
Het |
| Hrc |
T |
A |
7: 44,986,320 (GRCm39) |
D490E |
possibly damaging |
Het |
| Impg2 |
A |
G |
16: 56,080,276 (GRCm39) |
I693M |
probably benign |
Het |
| Itga7 |
A |
G |
10: 128,777,805 (GRCm39) |
Y262C |
probably damaging |
Het |
| Kif1c |
A |
G |
11: 70,619,424 (GRCm39) |
T1020A |
probably benign |
Het |
| Kif23 |
T |
C |
9: 61,844,402 (GRCm39) |
I139V |
probably benign |
Het |
| Klk1b5 |
A |
G |
7: 43,500,255 (GRCm39) |
E281G |
probably benign |
Het |
| Kpna4 |
A |
G |
3: 69,000,181 (GRCm39) |
V275A |
probably damaging |
Het |
| Lamb2 |
C |
A |
9: 108,362,979 (GRCm39) |
D787E |
possibly damaging |
Het |
| Ldlrad3 |
A |
C |
2: 101,785,270 (GRCm39) |
V235G |
probably damaging |
Het |
| Maneal |
A |
G |
4: 124,750,767 (GRCm39) |
S330P |
probably damaging |
Het |
| Maz |
G |
A |
7: 126,625,489 (GRCm39) |
Q35* |
probably null |
Het |
| Mthfd1l |
C |
T |
10: 4,039,998 (GRCm39) |
T803M |
probably damaging |
Het |
| Muc5ac |
A |
G |
7: 141,346,904 (GRCm39) |
Q325R |
probably benign |
Het |
| Myo3a |
C |
A |
2: 22,412,255 (GRCm39) |
A758E |
probably benign |
Het |
| Ndufb7 |
A |
G |
8: 84,293,482 (GRCm39) |
D12G |
probably benign |
Het |
| Nsun2 |
T |
A |
13: 69,781,725 (GRCm39) |
C677S |
probably damaging |
Het |
| Obscn |
A |
G |
11: 58,899,384 (GRCm39) |
F6471S |
probably benign |
Het |
| Or4c106 |
A |
T |
2: 88,682,563 (GRCm39) |
I90F |
probably damaging |
Het |
| Or51k1 |
A |
G |
7: 103,661,045 (GRCm39) |
V288A |
possibly damaging |
Het |
| Or7g32 |
T |
C |
9: 19,408,844 (GRCm39) |
S267P |
probably damaging |
Het |
| Otof |
T |
C |
5: 30,552,005 (GRCm39) |
D313G |
probably damaging |
Het |
| Paqr5 |
T |
C |
9: 61,880,072 (GRCm39) |
D74G |
probably benign |
Het |
| Pigq |
A |
G |
17: 26,153,580 (GRCm39) |
V365A |
unknown |
Het |
| Podn |
A |
T |
4: 107,875,002 (GRCm39) |
N588K |
probably benign |
Het |
| Polr3b |
G |
A |
10: 84,458,355 (GRCm39) |
G9R |
probably benign |
Het |
| Proser1 |
A |
G |
3: 53,385,939 (GRCm39) |
H607R |
probably damaging |
Het |
| Ryr2 |
C |
T |
13: 11,767,168 (GRCm39) |
V1241I |
probably benign |
Het |
| Sar1b |
G |
A |
11: 51,682,181 (GRCm39) |
A170T |
probably benign |
Het |
| Slc22a17 |
T |
C |
14: 55,149,716 (GRCm39) |
T191A |
probably benign |
Het |
| Slc35f3 |
CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
8: 127,115,779 (GRCm39) |
|
unknown |
Het |
| Slco6d1 |
A |
T |
1: 98,349,082 (GRCm39) |
D51V |
possibly damaging |
Het |
| Snx16 |
G |
A |
3: 10,500,541 (GRCm39) |
R143* |
probably null |
Het |
| Sytl2 |
T |
A |
7: 89,998,055 (GRCm39) |
L19Q |
probably damaging |
Het |
| Tmcc3 |
A |
G |
10: 94,418,174 (GRCm39) |
E345G |
possibly damaging |
Het |
| Ttn |
C |
T |
2: 76,555,998 (GRCm39) |
A30336T |
probably damaging |
Het |
| Vmn1r44 |
A |
G |
6: 89,870,401 (GRCm39) |
D49G |
probably benign |
Het |
| Vps35l |
C |
T |
7: 118,403,340 (GRCm39) |
P628S |
probably benign |
Het |
| Vps41 |
T |
A |
13: 19,048,204 (GRCm39) |
D801E |
probably benign |
Het |
| Wif1 |
G |
A |
10: 120,932,554 (GRCm39) |
E311K |
probably benign |
Het |
| Zfp513 |
G |
T |
5: 31,357,759 (GRCm39) |
R207S |
possibly damaging |
Het |
| Zfp52 |
C |
A |
17: 21,781,615 (GRCm39) |
H488N |
probably damaging |
Het |
| Zfp738 |
A |
G |
13: 67,817,619 (GRCm39) |
Y791H |
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 |
|
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 |
|
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'- TGTACCATCAACCACAGCTTTC -3'
(R):5'- GCTAAGTGATAAAAGGGCTAATCAC -3'
Sequencing Primer
(F):5'- AACCACAGCTTTCTTACTACTGGTAG -3'
(R):5'- ACAACAGAAATGACGTA -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation