Incidental Mutation 'R5339:Gfm2'
ID |
423713 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gfm2
|
Ensembl Gene |
ENSMUSG00000021666 |
Gene Name |
G elongation factor, mitochondrial 2 |
Synonyms |
EFG2, MST027, A930009M04Rik, 6530419G12Rik |
MMRRC Submission |
042918-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.884)
|
Stock # |
R5339 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
97274445-97317703 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 97311548 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 733
(I733T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125088
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022169]
[ENSMUST00000022170]
[ENSMUST00000042084]
[ENSMUST00000161639]
[ENSMUST00000161825]
|
AlphaFold |
Q8R2Q4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022169
|
SMART Domains |
Protein: ENSMUSP00000022169 Gene: ENSMUSG00000021665
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
31 |
N/A |
INTRINSIC |
Pfam:Glycohydro_20b2
|
35 |
157 |
7.1e-24 |
PFAM |
Pfam:Glyco_hydro_20
|
179 |
496 |
1.2e-94 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000022170
AA Change: I731T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000022170 Gene: ENSMUSG00000021666 AA Change: I731T
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
AA Change: I706T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000048373 Gene: ENSMUSG00000021666 AA Change: I706T
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 |
noncoding transcript
Transcript: ENSMUST00000159321
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160989
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161639
AA Change: I733T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000125656 Gene: ENSMUSG00000021666 AA Change: I733T
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
AA Change: I733T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000125088 Gene: ENSMUSG00000021666 AA Change: I733T
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
|
Meta Mutation Damage Score |
0.1665 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
Validation Efficiency |
97% (57/59) |
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgb |
C |
T |
10: 10,318,350 (GRCm39) |
G158E |
probably damaging |
Het |
Adgrl2 |
C |
T |
3: 148,523,480 (GRCm39) |
R1256H |
probably benign |
Het |
C3 |
C |
A |
17: 57,531,308 (GRCm39) |
V329F |
probably damaging |
Het |
Ccdc50 |
C |
T |
16: 27,236,055 (GRCm39) |
H130Y |
probably damaging |
Het |
Chrna7 |
A |
G |
7: 62,749,055 (GRCm39) |
S476P |
probably damaging |
Het |
Crtc1 |
A |
T |
8: 70,850,383 (GRCm39) |
|
probably benign |
Het |
Dnah12 |
A |
G |
14: 26,536,494 (GRCm39) |
T2137A |
possibly damaging |
Het |
Ehd3 |
G |
A |
17: 74,135,202 (GRCm39) |
M359I |
possibly damaging |
Het |
Fastkd3 |
G |
A |
13: 68,738,283 (GRCm39) |
G611R |
probably damaging |
Het |
Foxa2 |
T |
A |
2: 147,886,354 (GRCm39) |
S154C |
probably damaging |
Het |
Gm1968 |
T |
C |
16: 29,781,077 (GRCm39) |
|
noncoding transcript |
Het |
Gmfg-ps |
T |
C |
6: 4,893,401 (GRCm39) |
|
noncoding transcript |
Het |
Gzmd |
A |
T |
14: 56,368,140 (GRCm39) |
N106K |
possibly damaging |
Het |
Huwe1 |
AGAGGAGGAGGAGGAGGA |
AGAGGAGGAGGAGGA |
X: 150,690,044 (GRCm39) |
|
probably benign |
Het |
Ipo5 |
T |
C |
14: 121,181,122 (GRCm39) |
W883R |
probably damaging |
Het |
Itpr1 |
T |
A |
6: 108,370,922 (GRCm39) |
V1063D |
probably damaging |
Het |
Kansl3 |
A |
C |
1: 36,406,802 (GRCm39) |
|
probably benign |
Het |
Klkb1 |
C |
A |
8: 45,723,748 (GRCm39) |
V556F |
possibly damaging |
Het |
Krtap14 |
C |
A |
16: 88,622,747 (GRCm39) |
R77S |
probably benign |
Het |
Leng8 |
T |
A |
7: 4,148,285 (GRCm39) |
Y686N |
possibly damaging |
Het |
Mctp1 |
C |
A |
13: 76,973,825 (GRCm39) |
|
probably benign |
Het |
Moxd2 |
T |
C |
6: 40,862,354 (GRCm39) |
Y155C |
probably damaging |
Het |
Ofcc1 |
A |
G |
13: 40,241,321 (GRCm39) |
V729A |
probably benign |
Het |
Or2w6 |
G |
A |
13: 21,843,404 (GRCm39) |
L30F |
probably benign |
Het |
Or4k1 |
C |
A |
14: 50,377,759 (GRCm39) |
M112I |
probably damaging |
Het |
Or7g27 |
G |
A |
9: 19,250,455 (GRCm39) |
G233E |
possibly damaging |
Het |
Or8g30 |
A |
T |
9: 39,230,599 (GRCm39) |
F104I |
possibly damaging |
Het |
Or8g37 |
T |
A |
9: 39,731,229 (GRCm39) |
M98K |
probably damaging |
Het |
Pdia4 |
C |
T |
6: 47,773,619 (GRCm39) |
A577T |
possibly damaging |
Het |
Pex5 |
A |
T |
6: 124,374,963 (GRCm39) |
S629T |
probably benign |
Het |
Pnpla7 |
T |
C |
2: 24,892,949 (GRCm39) |
S146P |
probably benign |
Het |
Prune2 |
G |
A |
19: 17,098,236 (GRCm39) |
E1247K |
probably damaging |
Het |
Reg3a |
A |
G |
6: 78,360,522 (GRCm39) |
|
probably null |
Het |
Snx8 |
G |
A |
5: 140,343,905 (GRCm39) |
R78C |
probably damaging |
Het |
Sstr5 |
T |
C |
17: 25,710,173 (GRCm39) |
E352G |
probably benign |
Het |
Svep1 |
T |
C |
4: 58,121,892 (GRCm39) |
Y767C |
possibly damaging |
Het |
Tbx15 |
G |
A |
3: 99,223,600 (GRCm39) |
V263M |
possibly damaging |
Het |
Tdrd9 |
T |
C |
12: 111,993,556 (GRCm39) |
Y695H |
probably damaging |
Het |
Tep1 |
A |
T |
14: 51,082,031 (GRCm39) |
L1174Q |
probably damaging |
Het |
Tg |
T |
A |
15: 66,549,942 (GRCm39) |
Y235N |
probably damaging |
Het |
Tha1 |
C |
A |
11: 117,761,908 (GRCm39) |
R111L |
possibly damaging |
Het |
Trim17 |
C |
T |
11: 58,845,336 (GRCm39) |
|
probably null |
Het |
Trim72 |
A |
G |
7: 127,609,505 (GRCm39) |
T436A |
probably benign |
Het |
Uba7 |
C |
T |
9: 107,856,065 (GRCm39) |
A480V |
probably damaging |
Het |
Ublcp1 |
A |
T |
11: 44,346,435 (GRCm39) |
S313T |
probably benign |
Het |
Ubqlnl |
A |
G |
7: 103,798,972 (GRCm39) |
V175A |
probably benign |
Het |
Vps26a |
A |
G |
10: 62,294,746 (GRCm39) |
L276P |
probably damaging |
Het |
Zdhhc21 |
C |
T |
4: 82,756,550 (GRCm39) |
G110S |
probably damaging |
Het |
Zfp236 |
T |
C |
18: 82,642,491 (GRCm39) |
E1133G |
probably damaging |
Het |
Zfp800 |
A |
T |
6: 28,256,472 (GRCm39) |
S39T |
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 |
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'- TTCAGGCCCTGAAGAAAGCTG -3'
(R):5'- CCACATTTGAGACACTGTGC -3'
Sequencing Primer
(F):5'- CTGACAAACAGGTGCTGGAACC -3'
(R):5'- GAGACACTGTGCCTTAATCTTTG -3'
|
Posted On |
2016-08-04 |