Incidental Mutation 'R9115:Gfm2'
| ID |
692494 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gfm2
|
| Ensembl Gene |
ENSMUSG00000021666 |
| Gene Name |
G elongation factor, mitochondrial 2 |
| Synonyms |
EFG2, MST027, A930009M04Rik, 6530419G12Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.900)
|
| Stock # |
R9115 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
97274445-97317703 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 97301707 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125656
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022170]
[ENSMUST00000042084]
[ENSMUST00000161639]
[ENSMUST00000161825]
[ENSMUST00000161913]
|
| AlphaFold |
Q8R2Q4 |
| Predicted Effect |
probably benign
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 benign
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 |
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 benign
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 benign
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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.1%
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aire |
T |
C |
10: 77,879,309 (GRCm39) |
T17A |
|
Het |
| Ankrd31 |
T |
C |
13: 96,940,773 (GRCm39) |
|
probably null |
Het |
| Brwd1 |
C |
T |
16: 95,848,314 (GRCm39) |
R569K |
probably damaging |
Het |
| Capns1 |
A |
T |
7: 29,889,978 (GRCm39) |
I177K |
probably benign |
Het |
| Ccdc182 |
A |
G |
11: 88,185,343 (GRCm39) |
N141S |
probably benign |
Het |
| Celsr1 |
A |
G |
15: 85,803,217 (GRCm39) |
W2441R |
probably damaging |
Het |
| Cftr |
A |
T |
6: 18,235,310 (GRCm39) |
R516S |
probably damaging |
Het |
| Ckap4 |
C |
T |
10: 84,363,507 (GRCm39) |
V519M |
probably damaging |
Het |
| Col27a1 |
C |
T |
4: 63,231,974 (GRCm39) |
P1277L |
unknown |
Het |
| Cspg4 |
T |
C |
9: 56,797,736 (GRCm39) |
L1400P |
probably damaging |
Het |
| Cyp4f39 |
T |
A |
17: 32,711,296 (GRCm39) |
F481Y |
probably damaging |
Het |
| Dmxl2 |
T |
C |
9: 54,309,011 (GRCm39) |
I1913M |
probably benign |
Het |
| Dock10 |
T |
C |
1: 80,490,156 (GRCm39) |
T1989A |
probably damaging |
Het |
| Eef2 |
CC |
CCC |
10: 81,014,603 (GRCm39) |
|
probably null |
Het |
| Fcgbpl1 |
G |
A |
7: 27,853,754 (GRCm39) |
V1573I |
possibly damaging |
Het |
| Fshr |
T |
A |
17: 89,292,948 (GRCm39) |
I577F |
probably damaging |
Het |
| Gm12695 |
T |
C |
4: 96,657,846 (GRCm39) |
N108D |
possibly damaging |
Het |
| Gm3285 |
T |
A |
10: 77,698,007 (GRCm39) |
L52H |
unknown |
Het |
| Gm5930 |
A |
T |
14: 44,575,006 (GRCm39) |
L95* |
probably null |
Het |
| Hjurp |
CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT |
C |
1: 88,193,999 (GRCm39) |
|
probably benign |
Het |
| Klhl26 |
A |
G |
8: 70,904,896 (GRCm39) |
M338T |
possibly damaging |
Het |
| Lrrc4c |
T |
C |
2: 97,459,686 (GRCm39) |
I104T |
probably benign |
Het |
| Mapk10 |
A |
T |
5: 103,186,532 (GRCm39) |
V60E |
|
Het |
| Mfsd4b3-ps |
T |
A |
10: 39,824,012 (GRCm39) |
K83* |
probably null |
Het |
| Muc15 |
C |
T |
2: 110,562,089 (GRCm39) |
T175I |
probably damaging |
Het |
| Nmu |
G |
A |
5: 76,511,572 (GRCm39) |
|
probably benign |
Het |
| Nol4l |
G |
T |
2: 153,253,638 (GRCm39) |
T645K |
probably damaging |
Het |
| Nr2f1 |
A |
G |
13: 78,337,869 (GRCm39) |
S416P |
probably benign |
Het |
| Ntn4 |
A |
C |
10: 93,569,675 (GRCm39) |
I463L |
probably benign |
Het |
| Nxt2 |
C |
T |
X: 141,020,747 (GRCm39) |
A118V |
possibly damaging |
Het |
| Or12k7 |
T |
C |
2: 36,959,052 (GRCm39) |
L245P |
probably damaging |
Het |
| Or52h2 |
C |
A |
7: 103,838,931 (GRCm39) |
C161F |
possibly damaging |
Het |
| Or8h8 |
T |
A |
2: 86,752,998 (GRCm39) |
R293W |
probably damaging |
Het |
| Pccb |
T |
A |
9: 100,869,908 (GRCm39) |
N341I |
probably damaging |
Het |
| Pgm3 |
G |
A |
9: 86,447,662 (GRCm39) |
L194F |
probably damaging |
Het |
| Prkra |
T |
A |
2: 76,478,193 (GRCm39) |
H3L |
probably benign |
Het |
| Rbm12 |
TATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCAGGCATTGCGGGACC |
TATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCAGGCATTGCGGGACC |
2: 155,938,030 (GRCm39) |
|
probably benign |
Het |
| Ryr1 |
T |
A |
7: 28,803,989 (GRCm39) |
K600* |
probably null |
Het |
| Sema4d |
A |
T |
13: 51,877,596 (GRCm39) |
S79T |
probably benign |
Het |
| Slc37a1 |
T |
C |
17: 31,534,486 (GRCm39) |
C53R |
probably damaging |
Het |
| Sptbn1 |
A |
G |
11: 30,087,526 (GRCm39) |
I971T |
probably damaging |
Het |
| Tcstv1a |
T |
A |
13: 120,355,453 (GRCm39) |
I60F |
possibly damaging |
Het |
| Tdrkh |
G |
T |
3: 94,335,598 (GRCm39) |
C397F |
possibly damaging |
Het |
| Tecrl |
A |
T |
5: 83,427,906 (GRCm39) |
M314K |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,780,496 (GRCm39) |
K1131R |
unknown |
Het |
| Uimc1 |
A |
T |
13: 55,198,584 (GRCm39) |
Y531N |
possibly damaging |
Het |
| Usp5 |
A |
G |
6: 124,803,384 (GRCm39) |
S39P |
probably damaging |
Het |
| Virma |
A |
G |
4: 11,498,744 (GRCm39) |
T62A |
probably benign |
Het |
| Vmn2r85 |
A |
G |
10: 130,254,153 (GRCm39) |
Y844H |
probably benign |
Het |
| Yars1 |
T |
C |
4: 129,109,143 (GRCm39) |
V458A |
probably benign |
Het |
| Zfp235 |
G |
A |
7: 23,841,453 (GRCm39) |
C624Y |
probably damaging |
Het |
| Zfp712 |
A |
T |
13: 67,189,241 (GRCm39) |
S429T |
probably damaging |
Het |
| Zmynd11 |
A |
T |
13: 9,743,495 (GRCm39) |
D307E |
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 |
|
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 |
|
|
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'- ATAGTCTCGTCCAAGTCCAGCG -3'
(R):5'- TAGAGCAGGGCCAAATACTTG -3'
Sequencing Primer
(F):5'- TCGTCCAAGTCCAGCGCATTAG -3'
(R):5'- TGCATCTCTGAAGTCAAGGC -3'
|
| Posted On |
2021-12-30 |
Incidental Mutation