Incidental Mutation 'R9261:Gfm2'
| ID |
702279 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gfm2
|
| Ensembl Gene |
ENSMUSG00000021666 |
| Gene Name |
G elongation factor, mitochondrial 2 |
| Synonyms |
EFG2, MST027, A930009M04Rik, 6530419G12Rik |
| MMRRC Submission |
068990-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.884)
|
| Stock # |
R9261 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
97274445-97317703 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 97299369 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 363
(Y363*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125656
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022170]
[ENSMUST00000042084]
[ENSMUST00000161639]
[ENSMUST00000161825]
[ENSMUST00000161913]
|
| AlphaFold |
Q8R2Q4 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000022170
AA Change: Y361*
|
| SMART Domains |
Protein: ENSMUSP00000022170
Gene: ENSMUSG00000021666
AA Change: Y361*
| 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: Y336*
|
| SMART Domains |
Protein: ENSMUSP00000048373
Gene: ENSMUSG00000021666
AA Change: Y336*
| 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
AA Change: Y363*
|
| SMART Domains |
Protein: ENSMUSP00000125656
Gene: ENSMUSG00000021666
AA Change: Y363*
| 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: Y363*
|
| SMART Domains |
Protein: ENSMUSP00000125088
Gene: ENSMUSG00000021666
AA Change: Y363*
| 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: Y363*
|
| SMART Domains |
Protein: ENSMUSP00000124253
Gene: ENSMUSG00000021666
AA Change: Y363*
| 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: 99.7%
- 20x: 98.8%
|
| Validation Efficiency |
100% (73/73) |
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts7 |
A |
G |
9: 90,075,397 (GRCm39) |
E1043G |
probably benign |
Het |
| Agps |
T |
G |
2: 75,684,850 (GRCm39) |
|
probably benign |
Het |
| Ahnak |
A |
G |
19: 8,993,503 (GRCm39) |
E4929G |
possibly damaging |
Het |
| Arl6ip4 |
T |
A |
5: 124,256,146 (GRCm39) |
|
probably benign |
Het |
| Cdhr17 |
T |
C |
5: 17,006,547 (GRCm39) |
L88P |
possibly damaging |
Het |
| Clca3a2 |
G |
T |
3: 144,525,158 (GRCm39) |
H25N |
probably benign |
Het |
| Cubn |
C |
T |
2: 13,283,262 (GRCm39) |
D3559N |
probably damaging |
Het |
| Dmac2 |
T |
A |
7: 25,320,345 (GRCm39) |
W15R |
probably benign |
Het |
| Dzank1 |
T |
C |
2: 144,355,344 (GRCm39) |
E117G |
probably benign |
Het |
| Eml2 |
A |
G |
7: 18,913,743 (GRCm39) |
T187A |
probably benign |
Het |
| Eml5 |
A |
G |
12: 98,822,287 (GRCm39) |
V747A |
probably damaging |
Het |
| Esr1 |
T |
A |
10: 4,919,271 (GRCm39) |
S454T |
probably damaging |
Het |
| Evc2 |
A |
G |
5: 37,537,895 (GRCm39) |
T528A |
probably benign |
Het |
| Fbxo5 |
T |
C |
10: 5,752,325 (GRCm39) |
N96S |
probably damaging |
Het |
| Fcnb |
T |
C |
2: 27,969,636 (GRCm39) |
T144A |
probably damaging |
Het |
| Fgf20 |
T |
A |
8: 40,739,951 (GRCm39) |
|
probably benign |
Het |
| Gcg |
T |
C |
2: 62,306,408 (GRCm39) |
|
probably benign |
Het |
| Grwd1 |
C |
T |
7: 45,475,381 (GRCm39) |
R387Q |
probably benign |
Het |
| Gstt2 |
C |
T |
10: 75,669,511 (GRCm39) |
D59N |
possibly damaging |
Het |
| Herc1 |
A |
G |
9: 66,412,129 (GRCm39) |
N4783S |
probably damaging |
Het |
| Hydin |
C |
A |
8: 110,994,047 (GRCm39) |
A27E |
unknown |
Het |
| Iigp1c |
T |
A |
18: 60,353,820 (GRCm39) |
|
probably benign |
Het |
| Ikbip |
A |
G |
10: 90,932,249 (GRCm39) |
T298A |
possibly damaging |
Het |
| Il1rap |
A |
G |
16: 26,541,724 (GRCm39) |
N655S |
possibly damaging |
Het |
| Kif21b |
C |
T |
1: 136,077,162 (GRCm39) |
R395C |
probably damaging |
Het |
| Kif3a |
ATTGACG |
A |
11: 53,484,248 (GRCm39) |
|
probably benign |
Het |
| Klhl40 |
A |
G |
9: 121,609,002 (GRCm39) |
D389G |
probably benign |
Het |
| Ly6g |
A |
G |
15: 75,030,529 (GRCm39) |
T116A |
probably damaging |
Het |
| Mast2 |
A |
G |
4: 116,165,900 (GRCm39) |
L1276P |
probably damaging |
Het |
| Mitf |
A |
G |
6: 97,990,704 (GRCm39) |
Q369R |
possibly damaging |
Het |
| Mtus2 |
T |
A |
5: 148,243,453 (GRCm39) |
Y192* |
probably null |
Het |
| Nav1 |
T |
A |
1: 135,388,095 (GRCm39) |
E1109D |
unknown |
Het |
| Nav2 |
A |
G |
7: 49,246,904 (GRCm39) |
E2143G |
probably damaging |
Het |
| Nedd4 |
A |
G |
9: 72,584,656 (GRCm39) |
Q119R |
possibly damaging |
Het |
| Nek9 |
A |
G |
12: 85,359,841 (GRCm39) |
V537A |
probably damaging |
Het |
| Notum |
G |
T |
11: 120,550,974 (GRCm39) |
T64K |
|
Het |
| Nudcd2 |
A |
G |
11: 40,630,026 (GRCm39) |
N144S |
probably damaging |
Het |
| Nup205 |
A |
G |
6: 35,176,792 (GRCm39) |
E596G |
probably benign |
Het |
| Olfml1 |
T |
A |
7: 107,167,007 (GRCm39) |
L12Q |
possibly damaging |
Het |
| Or4f60 |
T |
A |
2: 111,902,718 (GRCm39) |
D70V |
probably damaging |
Het |
| Or51k1 |
C |
T |
7: 103,661,336 (GRCm39) |
C191Y |
probably damaging |
Het |
| Or52n2c |
A |
T |
7: 104,574,305 (GRCm39) |
M222K |
probably benign |
Het |
| Or56b2 |
T |
A |
7: 104,337,260 (GRCm39) |
F13I |
probably benign |
Het |
| Or6b13 |
A |
G |
7: 139,782,563 (GRCm39) |
V40A |
probably benign |
Het |
| Ovgp1 |
T |
C |
3: 105,893,883 (GRCm39) |
|
probably benign |
Het |
| Padi4 |
T |
C |
4: 140,479,926 (GRCm39) |
N409S |
probably damaging |
Het |
| Pam |
T |
A |
1: 97,903,620 (GRCm39) |
T38S |
probably benign |
Het |
| Piezo2 |
T |
C |
18: 63,208,868 (GRCm39) |
I1382V |
possibly damaging |
Het |
| Pla2g12a |
A |
T |
3: 129,684,080 (GRCm39) |
Q153L |
possibly damaging |
Het |
| Pla2g4e |
T |
A |
2: 120,019,910 (GRCm39) |
H180L |
probably benign |
Het |
| Pou2af2 |
T |
A |
9: 51,202,998 (GRCm39) |
H52L |
probably benign |
Het |
| Pprc1 |
A |
G |
19: 46,050,868 (GRCm39) |
T169A |
unknown |
Het |
| Prrc2c |
A |
G |
1: 162,505,622 (GRCm39) |
I2592T |
possibly damaging |
Het |
| Ptchd3 |
T |
A |
11: 121,722,956 (GRCm39) |
I348N |
probably damaging |
Het |
| Ralgps1 |
T |
C |
2: 33,226,571 (GRCm39) |
D40G |
probably damaging |
Het |
| Rbm19 |
T |
C |
5: 120,256,810 (GRCm39) |
F41S |
probably damaging |
Het |
| Rbsn |
T |
C |
6: 92,166,797 (GRCm39) |
M616V |
probably benign |
Het |
| Ryr1 |
A |
T |
7: 28,751,813 (GRCm39) |
M3660K |
possibly damaging |
Het |
| Sidt2 |
A |
T |
9: 45,861,396 (GRCm39) |
V246E |
probably damaging |
Het |
| Slc4a4 |
T |
C |
5: 89,347,568 (GRCm39) |
W770R |
probably damaging |
Het |
| Spata31d1c |
T |
A |
13: 65,184,680 (GRCm39) |
S741T |
probably damaging |
Het |
| Stk19 |
T |
G |
17: 35,051,432 (GRCm39) |
Y108S |
possibly damaging |
Het |
| Stox2 |
T |
C |
8: 47,645,441 (GRCm39) |
E673G |
possibly damaging |
Het |
| Tax1bp1 |
T |
A |
6: 52,714,116 (GRCm39) |
C271S |
probably benign |
Het |
| Tmem161a |
C |
A |
8: 70,631,572 (GRCm39) |
R167S |
probably damaging |
Het |
| Tnrc6c |
T |
A |
11: 117,605,105 (GRCm39) |
V80E |
probably damaging |
Het |
| Trpa1 |
G |
A |
1: 14,963,465 (GRCm39) |
H586Y |
probably damaging |
Het |
| Tsr1 |
A |
G |
11: 74,799,056 (GRCm39) |
T746A |
probably damaging |
Het |
| Uqcrfs1 |
T |
C |
13: 30,724,794 (GRCm39) |
I249V |
probably damaging |
Het |
| Vmn2r84 |
C |
A |
10: 130,229,976 (GRCm39) |
E45D |
probably benign |
Het |
| Vnn3 |
A |
G |
10: 23,741,607 (GRCm39) |
E304G |
probably damaging |
Het |
| Zfp541 |
G |
A |
7: 15,816,029 (GRCm39) |
V839M |
possibly damaging |
Het |
| Zfp62 |
A |
G |
11: 49,108,350 (GRCm39) |
K814E |
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 |
|
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 |
|
|
R9115:Gfm2
|
UTSW |
13 |
97,301,707 (GRCm39) |
critical splice donor site |
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'- ACAAGCTCAAGTTCCTCCTG -3'
(R):5'- ATGGCAAAAGCAGACGACTC -3'
Sequencing Primer
(F):5'- GCTCAAGTTCCTCCTGTAGATTAATG -3'
(R):5'- AAGCAGACGACTCATTCTTTCC -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation