Incidental Mutation 'R6958:Gfm2'
| ID |
541601 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gfm2
|
| Ensembl Gene |
ENSMUSG00000021666 |
| Gene Name |
G elongation factor, mitochondrial 2 |
| Synonyms |
EFG2, MST027, A930009M04Rik, 6530419G12Rik |
| MMRRC Submission |
045009-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.900)
|
| Stock # |
R6958 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
97274445-97317703 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 97282744 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 75
(I75V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125306
(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: I73V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000022170
Gene: ENSMUSG00000021666
AA Change: I73V
| 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: I75V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000048373
Gene: ENSMUSG00000021666
AA Change: I75V
| 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 |
possibly damaging
Transcript: ENSMUST00000160139
AA Change: I75V
PolyPhen 2
Score 0.619 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000124426
Gene: ENSMUSG00000021666
AA Change: I75V
| 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: I75V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000125656
Gene: ENSMUSG00000021666
AA Change: I75V
| 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: I75V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000125088
Gene: ENSMUSG00000021666
AA Change: I75V
| 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: I75V
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000124253
Gene: ENSMUSG00000021666
AA Change: I75V
| 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 damaging
Transcript: ENSMUST00000161929
AA Change: I75V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000125306
Gene: ENSMUSG00000021666
AA Change: I75V
| 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: 99.2%
- 20x: 96.9%
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410004B18Rik |
A |
G |
3: 145,649,558 (GRCm39) |
D159G |
probably benign |
Het |
| Ahnak |
A |
G |
19: 8,992,579 (GRCm39) |
N4621S |
possibly damaging |
Het |
| Ankrd16 |
C |
T |
2: 11,784,604 (GRCm39) |
A144V |
probably damaging |
Het |
| Bhmt1b |
G |
A |
18: 87,775,046 (GRCm39) |
E190K |
probably benign |
Het |
| Ccdc14 |
T |
C |
16: 34,511,176 (GRCm39) |
V2A |
probably damaging |
Het |
| Ccdc187 |
C |
T |
2: 26,179,731 (GRCm39) |
V243I |
probably benign |
Het |
| Cdk12 |
A |
T |
11: 98,132,525 (GRCm39) |
I985F |
unknown |
Het |
| Cfap65 |
T |
C |
1: 74,971,058 (GRCm39) |
T87A |
possibly damaging |
Het |
| Cilp2 |
G |
A |
8: 70,335,190 (GRCm39) |
P603S |
probably benign |
Het |
| Cntnap5b |
A |
G |
1: 100,202,197 (GRCm39) |
E348G |
probably benign |
Het |
| Cpa6 |
C |
T |
1: 10,665,913 (GRCm39) |
V42M |
probably damaging |
Het |
| Cpsf4 |
A |
G |
5: 145,112,402 (GRCm39) |
I115V |
probably benign |
Het |
| Dnah11 |
G |
T |
12: 117,897,544 (GRCm39) |
P3562Q |
probably damaging |
Het |
| Dnah9 |
A |
G |
11: 65,967,167 (GRCm39) |
F1664L |
probably damaging |
Het |
| Dpysl3 |
T |
C |
18: 43,571,067 (GRCm39) |
Q69R |
probably benign |
Het |
| Ebf3 |
T |
C |
7: 136,800,994 (GRCm39) |
T455A |
possibly damaging |
Het |
| Eif2ak3 |
T |
A |
6: 70,869,667 (GRCm39) |
C785S |
probably benign |
Het |
| Elk4 |
T |
A |
1: 131,945,570 (GRCm39) |
F149L |
probably damaging |
Het |
| Fgf14 |
A |
G |
14: 124,914,009 (GRCm39) |
W41R |
probably benign |
Het |
| Fmnl1 |
T |
A |
11: 103,062,140 (GRCm39) |
M1K |
probably null |
Het |
| Foxk2 |
A |
T |
11: 121,190,563 (GRCm39) |
Q568L |
probably benign |
Het |
| Fryl |
T |
G |
5: 73,231,272 (GRCm39) |
I1602L |
possibly damaging |
Het |
| Gm3233 |
T |
A |
10: 77,595,369 (GRCm39) |
|
probably benign |
Het |
| Gnb1 |
G |
T |
4: 155,627,651 (GRCm39) |
|
probably null |
Het |
| Gphn |
G |
T |
12: 78,727,073 (GRCm39) |
V662L |
possibly damaging |
Het |
| Il3 |
A |
C |
11: 54,157,937 (GRCm39) |
V47G |
probably benign |
Het |
| Iqgap3 |
A |
G |
3: 88,020,673 (GRCm39) |
D401G |
possibly damaging |
Het |
| Kdm3b |
T |
A |
18: 34,941,336 (GRCm39) |
S276T |
probably benign |
Het |
| Krtap6-2 |
A |
G |
16: 89,216,698 (GRCm39) |
S90P |
unknown |
Het |
| Lars1 |
C |
T |
18: 42,369,704 (GRCm39) |
V394I |
probably damaging |
Het |
| Lrit1 |
G |
C |
14: 36,782,052 (GRCm39) |
V242L |
probably damaging |
Het |
| Lrp10 |
A |
G |
14: 54,707,278 (GRCm39) |
|
probably benign |
Het |
| Ltn1 |
A |
T |
16: 87,194,679 (GRCm39) |
C1407S |
probably benign |
Het |
| Lzts2 |
G |
T |
19: 45,012,582 (GRCm39) |
|
probably benign |
Het |
| Msantd2 |
A |
G |
9: 37,434,753 (GRCm39) |
E331G |
probably damaging |
Het |
| Myo15a |
G |
A |
11: 60,394,451 (GRCm39) |
G1218S |
probably benign |
Het |
| Myom2 |
G |
A |
8: 15,167,741 (GRCm39) |
A1109T |
probably null |
Het |
| Nhp2 |
A |
G |
11: 51,513,934 (GRCm39) |
T118A |
probably benign |
Het |
| Nup155 |
A |
G |
15: 8,176,638 (GRCm39) |
Y972C |
probably damaging |
Het |
| Nxpe2 |
A |
T |
9: 48,237,566 (GRCm39) |
C230S |
probably damaging |
Het |
| Or12d13 |
T |
C |
17: 37,647,308 (GRCm39) |
I272V |
probably benign |
Het |
| Or51g2 |
A |
G |
7: 102,623,091 (GRCm39) |
L36P |
possibly damaging |
Het |
| Or5w8 |
T |
C |
2: 87,688,295 (GRCm39) |
Y259H |
probably damaging |
Het |
| Pfkfb4 |
A |
T |
9: 108,839,615 (GRCm39) |
N244I |
probably damaging |
Het |
| Pi4ka |
C |
T |
16: 17,143,091 (GRCm39) |
R24Q |
probably damaging |
Het |
| Pkd2l2 |
C |
A |
18: 34,542,543 (GRCm39) |
Y8* |
probably null |
Het |
| Pramel20 |
A |
T |
4: 143,297,829 (GRCm39) |
D83V |
probably damaging |
Het |
| Ptprb |
T |
A |
10: 116,113,153 (GRCm39) |
N44K |
probably benign |
Het |
| Sds |
G |
A |
5: 120,619,537 (GRCm39) |
V149M |
probably damaging |
Het |
| Slc22a30 |
A |
G |
19: 8,364,065 (GRCm39) |
F204L |
probably damaging |
Het |
| Slc26a7 |
C |
T |
4: 14,506,442 (GRCm39) |
A636T |
probably benign |
Het |
| Slc27a1 |
C |
T |
8: 72,038,083 (GRCm39) |
A577V |
possibly damaging |
Het |
| Spata13 |
A |
T |
14: 60,989,300 (GRCm39) |
T319S |
possibly damaging |
Het |
| Styxl2 |
T |
A |
1: 165,935,565 (GRCm39) |
D211V |
probably damaging |
Het |
| Tdrd3 |
A |
G |
14: 87,694,532 (GRCm39) |
D29G |
probably damaging |
Het |
| Tex15 |
A |
T |
8: 34,060,899 (GRCm39) |
I110L |
probably benign |
Het |
| Treml2 |
A |
G |
17: 48,615,180 (GRCm39) |
T222A |
probably damaging |
Het |
| Trpd52l3 |
A |
T |
19: 29,981,546 (GRCm39) |
L100F |
probably damaging |
Het |
| Ttf2 |
C |
T |
3: 100,853,248 (GRCm39) |
E975K |
probably benign |
Het |
| Vmn1r193 |
T |
A |
13: 22,404,144 (GRCm39) |
|
probably benign |
Het |
| Xpo1 |
A |
G |
11: 23,235,855 (GRCm39) |
T648A |
probably benign |
Het |
| Zfp641 |
C |
T |
15: 98,190,832 (GRCm39) |
V71I |
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 |
|
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 |
|
|
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'- TGAGATGTCATAGTGCGCCC -3'
(R):5'- GTTTAGACACCAGAGACTCCATG -3'
Sequencing Primer
(F):5'- ATGTCATAGTGCGCCCCCTAG -3'
(R):5'- ATGCCTCACGCTAGTTGACG -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation