Incidental Mutation 'IGL01637:Gfm2'
| ID |
93073 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gfm2
|
| Ensembl Gene |
ENSMUSG00000021666 |
| Gene Name |
G elongation factor, mitochondrial 2 |
| Synonyms |
EFG2, MST027, A930009M04Rik, 6530419G12Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.884)
|
| Stock # |
IGL01637
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
97274445-97317703 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 97286917 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 172
(V172E)
|
| 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: V170E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000022170
Gene: ENSMUSG00000021666
AA Change: V170E
| 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: V172E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000048373
Gene: ENSMUSG00000021666
AA Change: V172E
| 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: V172E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124426
Gene: ENSMUSG00000021666
AA Change: V172E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GTP_EFTU
|
68 |
241 |
3.5e-56 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000160981
AA Change: V20E
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000161639
AA Change: V172E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125656
Gene: ENSMUSG00000021666
AA Change: V172E
| 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: V172E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125088
Gene: ENSMUSG00000021666
AA Change: V172E
| 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: V172E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124253
Gene: ENSMUSG00000021666
AA Change: V172E
| 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 |
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn4 |
A |
T |
7: 28,604,109 (GRCm39) |
I384N |
probably damaging |
Het |
| Adsl |
G |
T |
15: 80,832,901 (GRCm39) |
Q51H |
probably null |
Het |
| Apcdd1 |
A |
G |
18: 63,070,357 (GRCm39) |
E208G |
probably damaging |
Het |
| Arrdc4 |
G |
A |
7: 68,394,580 (GRCm39) |
R155* |
probably null |
Het |
| Atp9b |
T |
C |
18: 80,799,670 (GRCm39) |
E823G |
probably benign |
Het |
| Bmp1 |
A |
G |
14: 70,729,901 (GRCm39) |
W468R |
probably damaging |
Het |
| C6 |
A |
G |
15: 4,789,399 (GRCm39) |
I281M |
possibly damaging |
Het |
| Ccdc88b |
T |
C |
19: 6,824,078 (GRCm39) |
T1392A |
probably benign |
Het |
| Dhx34 |
G |
T |
7: 15,939,398 (GRCm39) |
S665Y |
probably damaging |
Het |
| Dock1 |
A |
T |
7: 134,739,542 (GRCm39) |
|
probably null |
Het |
| Dpp7 |
T |
C |
2: 25,244,625 (GRCm39) |
N252S |
probably benign |
Het |
| Dyrk2 |
A |
G |
10: 118,696,412 (GRCm39) |
V282A |
probably damaging |
Het |
| Edrf1 |
T |
C |
7: 133,252,254 (GRCm39) |
L401P |
probably damaging |
Het |
| Epc1 |
A |
G |
18: 6,439,724 (GRCm39) |
V150A |
probably benign |
Het |
| Fam170a |
A |
T |
18: 50,414,734 (GRCm39) |
M127L |
possibly damaging |
Het |
| Gabrg1 |
T |
A |
5: 70,934,548 (GRCm39) |
T277S |
probably damaging |
Het |
| Galntl5 |
T |
C |
5: 25,394,823 (GRCm39) |
|
probably benign |
Het |
| Gbp2b |
A |
G |
3: 142,304,073 (GRCm39) |
N56S |
probably damaging |
Het |
| Gm10419 |
T |
C |
5: 108,520,224 (GRCm39) |
|
probably benign |
Het |
| Gm7293 |
A |
G |
9: 51,534,906 (GRCm39) |
|
noncoding transcript |
Het |
| Gstm3 |
T |
C |
3: 107,874,949 (GRCm39) |
E101G |
probably damaging |
Het |
| Ifnlr1 |
T |
C |
4: 135,413,856 (GRCm39) |
W2R |
possibly damaging |
Het |
| Ighv13-1 |
A |
T |
12: 114,231,353 (GRCm39) |
|
probably benign |
Het |
| Ighv7-1 |
T |
A |
12: 113,860,123 (GRCm39) |
I90F |
possibly damaging |
Het |
| Itga2b |
A |
G |
11: 102,346,409 (GRCm39) |
L1009P |
probably damaging |
Het |
| Kif1a |
A |
G |
1: 92,967,575 (GRCm39) |
V1112A |
possibly damaging |
Het |
| Kif5a |
A |
T |
10: 127,081,237 (GRCm39) |
D232E |
possibly damaging |
Het |
| Klb |
G |
A |
5: 65,533,022 (GRCm39) |
|
probably null |
Het |
| Lrriq1 |
G |
A |
10: 103,051,489 (GRCm39) |
A421V |
probably benign |
Het |
| Mdga1 |
G |
A |
17: 30,058,845 (GRCm39) |
R721C |
probably damaging |
Het |
| Mrpl48 |
G |
T |
7: 100,199,739 (GRCm39) |
|
probably benign |
Het |
| Myo18b |
T |
A |
5: 112,988,495 (GRCm39) |
R1030S |
possibly damaging |
Het |
| Nf1 |
T |
A |
11: 79,437,946 (GRCm39) |
H2101Q |
probably damaging |
Het |
| Nlrp3 |
C |
A |
11: 59,440,204 (GRCm39) |
L594I |
probably damaging |
Het |
| Notch2 |
C |
T |
3: 98,053,376 (GRCm39) |
T2013I |
probably damaging |
Het |
| Or2ah1 |
A |
T |
2: 85,653,332 (GRCm39) |
T6S |
probably benign |
Het |
| Or2y3 |
G |
A |
17: 38,392,994 (GRCm39) |
L292F |
possibly damaging |
Het |
| Or52s1 |
C |
A |
7: 102,861,384 (GRCm39) |
R95S |
probably benign |
Het |
| Or6c216 |
A |
G |
10: 129,678,479 (GRCm39) |
L144P |
probably benign |
Het |
| Or7g27 |
T |
C |
9: 19,250,260 (GRCm39) |
F168S |
probably damaging |
Het |
| Panx3 |
T |
C |
9: 37,575,352 (GRCm39) |
D170G |
probably damaging |
Het |
| Pclo |
A |
G |
5: 14,590,048 (GRCm39) |
S783G |
unknown |
Het |
| Pde3b |
T |
A |
7: 114,126,136 (GRCm39) |
L790* |
probably null |
Het |
| Pik3r2 |
T |
C |
8: 71,224,992 (GRCm39) |
|
probably benign |
Het |
| Rassf4 |
A |
G |
6: 116,618,651 (GRCm39) |
F211L |
probably damaging |
Het |
| Rbl2 |
C |
T |
8: 91,833,066 (GRCm39) |
P666S |
probably benign |
Het |
| Rnf123 |
A |
G |
9: 107,935,437 (GRCm39) |
F979L |
probably damaging |
Het |
| Rock2 |
T |
A |
12: 17,015,172 (GRCm39) |
D788E |
probably benign |
Het |
| Serpina3b |
A |
G |
12: 104,099,216 (GRCm39) |
T244A |
probably benign |
Het |
| Setd1b |
T |
C |
5: 123,286,576 (GRCm39) |
S541P |
unknown |
Het |
| Slc12a4 |
T |
C |
8: 106,687,339 (GRCm39) |
D60G |
possibly damaging |
Het |
| Stac2 |
T |
C |
11: 97,932,180 (GRCm39) |
E241G |
probably benign |
Het |
| Tafa3 |
C |
T |
3: 104,680,395 (GRCm39) |
V75M |
probably damaging |
Het |
| Tas2r115 |
A |
G |
6: 132,714,592 (GRCm39) |
Y120H |
probably damaging |
Het |
| Tmtc2 |
A |
T |
10: 105,205,946 (GRCm39) |
F450I |
probably benign |
Het |
| Txnl1 |
A |
T |
18: 63,807,262 (GRCm39) |
I198N |
probably damaging |
Het |
| Ubr2 |
A |
T |
17: 47,267,580 (GRCm39) |
M1049K |
probably damaging |
Het |
| Ugt2b5 |
T |
C |
5: 87,287,759 (GRCm39) |
E136G |
probably benign |
Het |
| Unc13b |
C |
T |
4: 43,241,066 (GRCm39) |
T3623I |
probably damaging |
Het |
| Usp13 |
T |
A |
3: 32,973,213 (GRCm39) |
S797T |
probably benign |
Het |
| Vmn1r173 |
A |
T |
7: 23,402,373 (GRCm39) |
T203S |
probably damaging |
Het |
| Vwf |
T |
A |
6: 125,622,699 (GRCm39) |
I1718N |
probably damaging |
Het |
| Zfr |
A |
G |
15: 12,159,732 (GRCm39) |
H676R |
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 |
|
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 |
|
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 |
|
| Posted On |
2013-12-09 |
Incidental Mutation