Incidental Mutation 'R2877:Gfm2'
| ID |
260636 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gfm2
|
| Ensembl Gene |
ENSMUSG00000021666 |
| Gene Name |
G elongation factor, mitochondrial 2 |
| Synonyms |
EFG2, MST027, A930009M04Rik, 6530419G12Rik |
| MMRRC Submission |
040465-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.884)
|
| Stock # |
R2877 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
97274445-97317703 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 97289757 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 181
(R181G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125088
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022170]
[ENSMUST00000042084]
[ENSMUST00000160139]
[ENSMUST00000161639]
[ENSMUST00000161825]
[ENSMUST00000161913]
|
| AlphaFold |
Q8R2Q4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022170
AA Change: R179G
PolyPhen 2
Score 0.764 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000022170
Gene: ENSMUSG00000021666
AA Change: R179G
| 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 |
possibly damaging
Transcript: ENSMUST00000042084
AA Change: R181G
PolyPhen 2
Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000048373
Gene: ENSMUSG00000021666
AA Change: R181G
| 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: ENSMUST00000160139
AA Change: R183G
PolyPhen 2
Score 0.398 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000124426
Gene: ENSMUSG00000021666
AA Change: R183G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GTP_EFTU
|
68 |
241 |
3.5e-56 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160981
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000161639
AA Change: R181G
PolyPhen 2
Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000125656
Gene: ENSMUSG00000021666
AA Change: R181G
| 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 |
possibly damaging
Transcript: ENSMUST00000161825
AA Change: R181G
PolyPhen 2
Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000125088
Gene: ENSMUSG00000021666
AA Change: R181G
| 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 |
possibly damaging
Transcript: ENSMUST00000161913
AA Change: R181G
PolyPhen 2
Score 0.536 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000124253
Gene: ENSMUSG00000021666
AA Change: R181G
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
96% (66/69) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930522L14Rik |
A |
C |
5: 109,886,811 (GRCm39) |
|
probably benign |
Het |
| Abca13 |
C |
T |
11: 9,241,889 (GRCm39) |
L1251F |
possibly damaging |
Het |
| Accsl |
A |
T |
2: 93,689,755 (GRCm39) |
M384K |
probably damaging |
Het |
| Adss1 |
A |
C |
12: 112,600,623 (GRCm39) |
K197N |
probably damaging |
Het |
| Alg11 |
A |
G |
8: 22,555,374 (GRCm39) |
N170D |
possibly damaging |
Het |
| Ambn |
T |
C |
5: 88,608,559 (GRCm39) |
|
probably benign |
Het |
| Anapc7 |
T |
C |
5: 122,566,219 (GRCm39) |
Y43H |
probably benign |
Het |
| Anxa10 |
T |
A |
8: 62,513,373 (GRCm39) |
I255F |
probably damaging |
Het |
| Atg2b |
A |
T |
12: 105,630,268 (GRCm39) |
Y374* |
probably null |
Het |
| Axl |
T |
A |
7: 25,465,949 (GRCm39) |
M563L |
probably damaging |
Het |
| Carmil2 |
A |
G |
8: 106,422,055 (GRCm39) |
E1108G |
probably damaging |
Het |
| Casp1 |
T |
C |
9: 5,303,110 (GRCm39) |
M188T |
probably damaging |
Het |
| Chd3 |
A |
T |
11: 69,251,998 (GRCm39) |
C87* |
probably null |
Het |
| Col6a3 |
G |
A |
1: 90,703,321 (GRCm39) |
T2475I |
unknown |
Het |
| Creb3l4 |
A |
T |
3: 90,149,615 (GRCm39) |
S83R |
probably damaging |
Het |
| Cyp2a4 |
G |
A |
7: 26,011,612 (GRCm39) |
E278K |
possibly damaging |
Het |
| Dync1li2 |
A |
C |
8: 105,156,047 (GRCm39) |
Y265D |
probably damaging |
Het |
| Eif3f |
G |
A |
7: 108,534,019 (GRCm39) |
|
probably null |
Het |
| Eipr1 |
C |
T |
12: 28,810,091 (GRCm39) |
T22I |
possibly damaging |
Het |
| Fbxo48 |
A |
G |
11: 16,903,382 (GRCm39) |
K3E |
possibly damaging |
Het |
| Fbxw13 |
A |
G |
9: 109,010,534 (GRCm39) |
F368S |
probably damaging |
Het |
| Fbxw19 |
A |
T |
9: 109,315,038 (GRCm39) |
W175R |
probably damaging |
Het |
| Fibcd1 |
G |
A |
2: 31,728,678 (GRCm39) |
P60S |
probably benign |
Het |
| Foxa3 |
A |
T |
7: 18,748,805 (GRCm39) |
M107K |
probably benign |
Het |
| Foxj2 |
G |
A |
6: 122,819,791 (GRCm39) |
D560N |
probably damaging |
Het |
| Gpr25 |
C |
T |
1: 136,188,553 (GRCm39) |
G20D |
possibly damaging |
Het |
| Grin1 |
A |
G |
2: 25,187,641 (GRCm39) |
V594A |
probably damaging |
Het |
| Itpripl1 |
A |
G |
2: 126,983,534 (GRCm39) |
V196A |
probably benign |
Het |
| Kcns1 |
A |
G |
2: 164,006,682 (GRCm39) |
I427T |
probably damaging |
Het |
| Kiz |
T |
C |
2: 146,731,476 (GRCm39) |
V322A |
possibly damaging |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Muc19 |
T |
A |
15: 91,777,200 (GRCm39) |
|
noncoding transcript |
Het |
| Naa16 |
A |
G |
14: 79,580,738 (GRCm39) |
M592T |
probably benign |
Het |
| Naa80 |
A |
T |
9: 107,460,367 (GRCm39) |
E87D |
possibly damaging |
Het |
| Ncapd3 |
T |
A |
9: 26,955,783 (GRCm39) |
|
probably null |
Het |
| Nebl |
C |
A |
2: 17,439,740 (GRCm39) |
D178Y |
probably damaging |
Het |
| Nedd1 |
T |
A |
10: 92,549,988 (GRCm39) |
N99I |
possibly damaging |
Het |
| Nuak1 |
T |
C |
10: 84,211,209 (GRCm39) |
D293G |
possibly damaging |
Het |
| Or5b123 |
A |
T |
19: 13,596,996 (GRCm39) |
I157F |
probably damaging |
Het |
| Or5m9b |
T |
C |
2: 85,905,675 (GRCm39) |
M197T |
possibly damaging |
Het |
| Palb2 |
A |
G |
7: 121,713,652 (GRCm39) |
V877A |
probably damaging |
Het |
| Rassf6 |
C |
T |
5: 90,754,664 (GRCm39) |
V205I |
probably damaging |
Het |
| Rbak |
A |
G |
5: 143,159,860 (GRCm39) |
Y398H |
probably damaging |
Het |
| Rcbtb1 |
A |
G |
14: 59,448,041 (GRCm39) |
|
probably benign |
Het |
| Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
| Smpdl3a |
C |
A |
10: 57,685,181 (GRCm39) |
T317K |
probably damaging |
Het |
| Speer4e1 |
C |
T |
5: 14,987,130 (GRCm39) |
V92M |
probably damaging |
Het |
| Syne2 |
A |
G |
12: 76,047,605 (GRCm39) |
I4009V |
probably benign |
Het |
| Tarbp1 |
G |
A |
8: 127,154,571 (GRCm39) |
L1474F |
probably damaging |
Het |
| Tchh |
A |
G |
3: 93,351,535 (GRCm39) |
E325G |
unknown |
Het |
| Trpc4 |
T |
C |
3: 54,198,761 (GRCm39) |
S562P |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,567,409 (GRCm39) |
D27828G |
probably damaging |
Het |
| Ulk4 |
T |
C |
9: 121,089,105 (GRCm39) |
D258G |
probably benign |
Het |
| Vmn1r215 |
A |
G |
13: 23,260,731 (GRCm39) |
H257R |
probably benign |
Het |
| Vmn2r56 |
A |
C |
7: 12,444,954 (GRCm39) |
M433R |
probably benign |
Het |
| Vmn2r76 |
C |
A |
7: 85,875,201 (GRCm39) |
C592F |
probably benign |
Het |
| Zcchc8 |
C |
T |
5: 123,838,766 (GRCm39) |
V591I |
probably benign |
Het |
| Znhit6 |
G |
C |
3: 145,282,409 (GRCm39) |
G96A |
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 |
|
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 |
PCR Primer
(F):5'- AAGCATCTTCCAGGCACCTTC -3'
(R):5'- GGCTCACCACTTAGAACATCTC -3'
Sequencing Primer
(F):5'- ATCTTCCAGGCACCTTCACCAC -3'
(R):5'- CCACTTAGAACATCTCAATGATCTC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation