Incidental Mutation 'R1173:Gfm2'
| ID |
99740 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gfm2
|
| Ensembl Gene |
ENSMUSG00000021666 |
| Gene Name |
G elongation factor, mitochondrial 2 |
| Synonyms |
EFG2, MST027, A930009M04Rik, 6530419G12Rik |
| MMRRC Submission |
039246-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.884)
|
| Stock # |
R1173 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
97274445-97317703 bp(+) (GRCm39) |
| Type of Mutation |
splice site (3 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 97301708 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124253
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022170]
[ENSMUST00000022170]
[ENSMUST00000042084]
[ENSMUST00000161639]
[ENSMUST00000161825]
[ENSMUST00000161825]
[ENSMUST00000161913]
[ENSMUST00000161913]
|
| AlphaFold |
Q8R2Q4 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000022170
|
| SMART Domains |
Protein: ENSMUSP00000022170
Gene: ENSMUSG00000021666
| 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: ENSMUST00000022170
|
| SMART Domains |
Protein: ENSMUSP00000022170
Gene: ENSMUSG00000021666
| 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
|
| SMART Domains |
Protein: ENSMUSP00000048373
Gene: ENSMUSG00000021666
| 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 null
Transcript: ENSMUST00000161639
|
| SMART Domains |
Protein: ENSMUSP00000125656
Gene: ENSMUSG00000021666
| 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
|
| SMART Domains |
Protein: ENSMUSP00000125088
Gene: ENSMUSG00000021666
| 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: ENSMUST00000161825
|
| SMART Domains |
Protein: ENSMUSP00000125088
Gene: ENSMUSG00000021666
| 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 null
Transcript: ENSMUST00000161913
|
| SMART Domains |
Protein: ENSMUSP00000124253
Gene: ENSMUSG00000021666
| 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: ENSMUST00000161913
|
| SMART Domains |
Protein: ENSMUSP00000124253
Gene: ENSMUSG00000021666
| 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 |
0.5151 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 94.7%
- 20x: 87.9%
|
| Validation Efficiency |
99% (72/73) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Accsl |
A |
T |
2: 93,696,589 (GRCm39) |
|
probably benign |
Het |
| Adam30 |
G |
A |
3: 98,070,222 (GRCm39) |
S685N |
probably benign |
Het |
| Adamts12 |
T |
C |
15: 11,071,843 (GRCm39) |
V129A |
probably benign |
Het |
| Agxt2 |
T |
C |
15: 10,373,837 (GRCm39) |
F81S |
probably damaging |
Het |
| Ahnak2 |
A |
T |
12: 112,749,409 (GRCm39) |
I186N |
probably damaging |
Het |
| Amz1 |
A |
T |
5: 140,737,691 (GRCm39) |
|
probably null |
Het |
| Anapc5 |
G |
A |
5: 122,926,481 (GRCm39) |
A619V |
possibly damaging |
Het |
| Aoc1l3 |
C |
A |
6: 48,967,173 (GRCm39) |
P707H |
probably damaging |
Het |
| Bbox1 |
T |
C |
2: 110,095,956 (GRCm39) |
D336G |
probably damaging |
Het |
| Bivm |
A |
G |
1: 44,165,942 (GRCm39) |
T131A |
probably benign |
Het |
| Bpi |
A |
T |
2: 158,109,660 (GRCm39) |
I203F |
probably benign |
Het |
| Cd151 |
A |
C |
7: 141,050,569 (GRCm39) |
T241P |
probably damaging |
Het |
| Cdh20 |
G |
A |
1: 109,988,862 (GRCm39) |
V255I |
probably benign |
Het |
| Cdh23 |
G |
A |
10: 60,148,171 (GRCm39) |
|
probably benign |
Het |
| Cul9 |
C |
G |
17: 46,833,101 (GRCm39) |
A1326P |
probably damaging |
Het |
| Dclre1b |
A |
C |
3: 103,711,192 (GRCm39) |
S240A |
probably benign |
Het |
| Ddc |
A |
C |
11: 11,796,634 (GRCm39) |
|
probably null |
Het |
| Dkk1 |
T |
C |
19: 30,524,650 (GRCm39) |
R252G |
probably damaging |
Het |
| Dmrtc2 |
T |
A |
7: 24,573,738 (GRCm39) |
M191K |
possibly damaging |
Het |
| Eml6 |
A |
G |
11: 29,699,824 (GRCm39) |
S1771P |
possibly damaging |
Het |
| Emx1 |
T |
C |
6: 85,165,353 (GRCm39) |
|
probably benign |
Het |
| Fah |
T |
C |
7: 84,250,344 (GRCm39) |
M1V |
probably null |
Het |
| Fmo6 |
A |
T |
1: 162,753,710 (GRCm39) |
M144K |
probably damaging |
Het |
| Frem1 |
A |
G |
4: 82,868,589 (GRCm39) |
V1445A |
probably benign |
Het |
| Fsd2 |
T |
C |
7: 81,209,518 (GRCm39) |
D108G |
probably benign |
Het |
| Ghrhr |
T |
A |
6: 55,365,254 (GRCm39) |
L416* |
probably null |
Het |
| Glipr1l2 |
C |
A |
10: 111,919,371 (GRCm39) |
L31I |
possibly damaging |
Het |
| Gm19965 |
T |
A |
1: 116,748,550 (GRCm39) |
|
probably benign |
Het |
| Gpr149 |
A |
G |
3: 62,511,888 (GRCm39) |
L37P |
probably damaging |
Het |
| Hoxa9 |
A |
G |
6: 52,202,693 (GRCm39) |
I131T |
probably damaging |
Het |
| Htra4 |
T |
C |
8: 25,520,635 (GRCm39) |
D342G |
possibly damaging |
Het |
| Idh1 |
G |
T |
1: 65,200,319 (GRCm39) |
N348K |
probably benign |
Het |
| Impdh2 |
T |
C |
9: 108,439,028 (GRCm39) |
F99S |
probably benign |
Het |
| Kank4 |
T |
C |
4: 98,653,806 (GRCm39) |
Y874C |
probably damaging |
Het |
| Kazn |
A |
T |
4: 141,886,349 (GRCm39) |
|
probably benign |
Het |
| Kcnq3 |
T |
A |
15: 65,871,891 (GRCm39) |
T593S |
probably benign |
Het |
| Lamc1 |
T |
C |
1: 153,122,977 (GRCm39) |
|
probably benign |
Het |
| Magi3 |
A |
G |
3: 103,968,946 (GRCm39) |
|
probably null |
Het |
| Map3k19 |
A |
G |
1: 127,751,617 (GRCm39) |
V578A |
probably benign |
Het |
| Meox2 |
T |
C |
12: 37,159,151 (GRCm39) |
C108R |
possibly damaging |
Het |
| Nlrp9c |
C |
A |
7: 26,079,860 (GRCm39) |
C722F |
probably damaging |
Het |
| Or2a5 |
T |
C |
6: 42,874,285 (GRCm39) |
V300A |
probably benign |
Het |
| Pde10a |
C |
T |
17: 9,139,378 (GRCm39) |
|
probably benign |
Het |
| Ppfia4 |
A |
G |
1: 134,260,021 (GRCm39) |
|
probably benign |
Het |
| Psg18 |
T |
C |
7: 18,088,742 (GRCm39) |
M1V |
probably null |
Het |
| Qtrt1 |
A |
G |
9: 21,323,782 (GRCm39) |
T136A |
probably benign |
Het |
| Retsat |
T |
C |
6: 72,580,634 (GRCm39) |
|
probably benign |
Het |
| Rxfp2 |
T |
C |
5: 149,975,021 (GRCm39) |
V210A |
probably benign |
Het |
| Sfswap |
G |
A |
5: 129,584,207 (GRCm39) |
|
probably null |
Het |
| Slc16a7 |
A |
T |
10: 125,067,241 (GRCm39) |
L133I |
possibly damaging |
Het |
| Slc30a3 |
A |
T |
5: 31,244,154 (GRCm39) |
M376K |
probably damaging |
Het |
| Spmip4 |
T |
A |
6: 50,566,121 (GRCm39) |
K118M |
probably damaging |
Het |
| Srbd1 |
C |
T |
17: 86,405,940 (GRCm39) |
C620Y |
probably null |
Het |
| Trip10 |
T |
A |
17: 57,560,363 (GRCm39) |
L100Q |
probably damaging |
Het |
| Tyrp1 |
C |
T |
4: 80,763,105 (GRCm39) |
Q331* |
probably null |
Het |
| Vangl2 |
G |
T |
1: 171,832,353 (GRCm39) |
T501N |
probably damaging |
Het |
| Vdr |
A |
T |
15: 97,767,214 (GRCm39) |
Y185N |
probably benign |
Het |
| Vmn1r123 |
C |
T |
7: 20,896,257 (GRCm39) |
P50S |
probably damaging |
Het |
| Vmn1r158 |
T |
A |
7: 22,489,870 (GRCm39) |
H113L |
probably benign |
Het |
| Vmn2r12 |
A |
T |
5: 109,240,720 (GRCm39) |
I131N |
probably benign |
Het |
| Vmn2r72 |
T |
A |
7: 85,401,152 (GRCm39) |
E89V |
probably damaging |
Het |
| Xrcc6 |
A |
G |
15: 81,915,364 (GRCm39) |
D94G |
probably damaging |
Het |
| Zbtb32 |
T |
A |
7: 30,290,692 (GRCm39) |
E201V |
possibly damaging |
Het |
| Zfp185 |
A |
T |
X: 72,042,929 (GRCm39) |
E138D |
possibly damaging |
Het |
| Zmynd11 |
T |
A |
13: 9,739,585 (GRCm39) |
H437L |
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 |
|
|
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 |
|
| Predicted Primers |
|
| Posted On |
2014-01-15 |
Incidental Mutation