Incidental Mutation 'IGL00230:Gfm2'
| ID |
2160 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gfm2
|
| Ensembl Gene |
ENSMUSG00000021666 |
| Gene Name |
G elongation factor, mitochondrial 2 |
| Synonyms |
EFG2, MST027, A930009M04Rik, 6530419G12Rik |
| Accession Numbers |
|
| Is this an essential gene? |
Probably essential
(E-score: 0.881)
|
| Stock # |
IGL00230
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
97137937-97181195 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 97155442 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 229
(T229A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022170
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022170]
[ENSMUST00000042084]
[ENSMUST00000160139]
[ENSMUST00000161639]
[ENSMUST00000161825]
[ENSMUST00000161913]
|
| AlphaFold |
Q8R2Q4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022170
AA Change: T229A
PolyPhen 2
Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000022170
Gene: ENSMUSG00000021666
AA Change: T229A
| 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: T231A
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000048373
Gene: ENSMUSG00000021666
AA Change: T231A
| 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: T233A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000124426
Gene: ENSMUSG00000021666
AA Change: T233A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GTP_EFTU
|
68 |
241 |
3.5e-56 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160981
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160989
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161639
AA Change: T231A
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000125656
Gene: ENSMUSG00000021666
AA Change: T231A
| 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: T231A
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000125088
Gene: ENSMUSG00000021666
AA Change: T231A
| 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 benign
Transcript: ENSMUST00000161913
AA Change: T231A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000124253
Gene: ENSMUSG00000021666
AA Change: T231A
| 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 |
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bin1 |
C |
T |
18: 32,420,107 |
A215V |
probably damaging |
Het |
| Cyp2j6 |
C |
T |
4: 96,536,046 |
R158H |
possibly damaging |
Het |
| Dnaaf2 |
T |
C |
12: 69,196,766 |
D507G |
probably benign |
Het |
| Fam13b |
T |
C |
18: 34,487,096 |
E245G |
possibly damaging |
Het |
| Gal3st1 |
A |
T |
11: 3,999,070 |
|
probably benign |
Het |
| Galnt5 |
A |
T |
2: 57,998,973 |
Q195L |
probably benign |
Het |
| Gigyf1 |
A |
G |
5: 137,522,745 |
|
probably benign |
Het |
| Gm4353 |
G |
T |
7: 116,083,554 |
T264K |
probably damaging |
Het |
| Gsk3b |
A |
T |
16: 38,228,707 |
I389F |
probably benign |
Het |
| Hist1h2bm |
G |
T |
13: 21,722,375 |
R93L |
possibly damaging |
Het |
| Htt |
A |
G |
5: 34,799,408 |
T194A |
probably benign |
Het |
| Ighg3 |
T |
C |
12: 113,359,837 |
Y273C |
unknown |
Het |
| Kdm5b |
T |
A |
1: 134,620,955 |
V1066D |
probably damaging |
Het |
| Kif1a |
G |
T |
1: 93,054,934 |
A707E |
probably damaging |
Het |
| Maats1 |
A |
G |
16: 38,336,342 |
|
probably null |
Het |
| Mars |
A |
G |
10: 127,298,006 |
M674T |
probably benign |
Het |
| Mas1 |
T |
C |
17: 12,841,990 |
D182G |
probably benign |
Het |
| Metap1d |
T |
A |
2: 71,512,162 |
D178E |
probably damaging |
Het |
| Nhsl1 |
T |
A |
10: 18,527,609 |
D1329E |
probably benign |
Het |
| Ninl |
T |
C |
2: 150,966,241 |
E289G |
probably damaging |
Het |
| Pmel |
G |
T |
10: 128,716,089 |
G264V |
possibly damaging |
Het |
| Ruvbl1 |
T |
C |
6: 88,484,403 |
|
probably benign |
Het |
| Scn8a |
T |
A |
15: 100,955,532 |
|
probably benign |
Het |
| Sept9 |
T |
C |
11: 117,354,804 |
|
probably benign |
Het |
| Sgpp1 |
G |
T |
12: 75,716,194 |
Y404* |
probably null |
Het |
| Sgsm1 |
T |
C |
5: 113,245,064 |
I788V |
probably benign |
Het |
| Slc13a4 |
A |
T |
6: 35,289,824 |
M112K |
probably benign |
Het |
| Slc22a29 |
T |
C |
19: 8,217,813 |
M153V |
probably benign |
Het |
| Slc9c1 |
T |
G |
16: 45,573,389 |
V565G |
possibly damaging |
Het |
| Sox4 |
C |
A |
13: 28,952,973 |
G17W |
probably damaging |
Het |
| Tec |
C |
T |
5: 72,768,768 |
A314T |
probably damaging |
Het |
| Tg |
A |
G |
15: 66,827,290 |
I803V |
probably benign |
Het |
| Trav9-1 |
A |
T |
14: 53,488,393 |
I55F |
probably benign |
Het |
| Ttll12 |
C |
A |
15: 83,578,656 |
E536D |
probably benign |
Het |
| Ubqln1 |
C |
A |
13: 58,177,992 |
E152* |
probably null |
Het |
| Wwtr1 |
G |
A |
3: 57,463,491 |
T338I |
probably benign |
Het |
| Zdhhc16 |
T |
C |
19: 41,939,660 |
F206S |
probably benign |
Het |
|
| Other mutations in Gfm2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00781:Gfm2
|
APN |
13 |
97149339 |
missense |
probably damaging |
1.00 |
|
IGL00789:Gfm2
|
APN |
13 |
97173058 |
unclassified |
probably benign |
|
|
IGL00978:Gfm2
|
APN |
13 |
97162977 |
missense |
probably benign |
0.20 |
|
IGL01637:Gfm2
|
APN |
13 |
97150409 |
missense |
probably damaging |
1.00 |
|
IGL02318:Gfm2
|
APN |
13 |
97162975 |
missense |
probably damaging |
1.00 |
|
R0825:Gfm2
|
UTSW |
13 |
97143104 |
splice site |
probably benign |
|
|
R1173:Gfm2
|
UTSW |
13 |
97165200 |
splice site |
probably null |
|
|
R1847:Gfm2
|
UTSW |
13 |
97162934 |
missense |
probably benign |
0.04 |
|
R1932:Gfm2
|
UTSW |
13 |
97141967 |
missense |
probably damaging |
0.96 |
|
R2104:Gfm2
|
UTSW |
13 |
97171520 |
missense |
probably damaging |
0.99 |
|
R2108:Gfm2
|
UTSW |
13 |
97155442 |
missense |
probably benign |
0.38 |
|
R2877:Gfm2
|
UTSW |
13 |
97153249 |
missense |
possibly damaging |
0.80 |
|
R2878:Gfm2
|
UTSW |
13 |
97153249 |
missense |
possibly damaging |
0.80 |
|
R2898:Gfm2
|
UTSW |
13 |
97172961 |
missense |
possibly damaging |
0.85 |
|
R3931:Gfm2
|
UTSW |
13 |
97175024 |
missense |
probably benign |
0.02 |
|
R4011:Gfm2
|
UTSW |
13 |
97143100 |
splice site |
probably benign |
|
|
R4831:Gfm2
|
UTSW |
13 |
97165038 |
missense |
probably damaging |
1.00 |
|
R4921:Gfm2
|
UTSW |
13 |
97175676 |
missense |
probably damaging |
0.99 |
|
R5182:Gfm2
|
UTSW |
13 |
97162893 |
missense |
probably damaging |
1.00 |
|
R5309:Gfm2
|
UTSW |
13 |
97163151 |
missense |
probably damaging |
1.00 |
|
R5310:Gfm2
|
UTSW |
13 |
97163151 |
missense |
probably damaging |
1.00 |
|
R5311:Gfm2
|
UTSW |
13 |
97163151 |
missense |
probably damaging |
1.00 |
|
R5339:Gfm2
|
UTSW |
13 |
97175040 |
missense |
probably benign |
|
|
R5594:Gfm2
|
UTSW |
13 |
97165038 |
missense |
probably damaging |
1.00 |
|
R5599:Gfm2
|
UTSW |
13 |
97163151 |
missense |
probably damaging |
1.00 |
|
R6014:Gfm2
|
UTSW |
13 |
97151661 |
splice site |
probably null |
|
|
R6041:Gfm2
|
UTSW |
13 |
97172623 |
missense |
probably benign |
0.11 |
|
R6108:Gfm2
|
UTSW |
13 |
97149422 |
missense |
possibly damaging |
0.79 |
|
R6345:Gfm2
|
UTSW |
13 |
97162953 |
missense |
probably damaging |
0.96 |
|
R6596:Gfm2
|
UTSW |
13 |
97165149 |
missense |
probably damaging |
1.00 |
|
R6937:Gfm2
|
UTSW |
13 |
97163064 |
splice site |
probably null |
|
|
R6958:Gfm2
|
UTSW |
13 |
97146236 |
missense |
probably damaging |
1.00 |
|
R6996:Gfm2
|
UTSW |
13 |
97149360 |
missense |
probably damaging |
1.00 |
|
R7291:Gfm2
|
UTSW |
13 |
97175024 |
missense |
probably benign |
0.02 |
|
R7365:Gfm2
|
UTSW |
13 |
97143021 |
missense |
probably benign |
0.06 |
|
R7456:Gfm2
|
UTSW |
13 |
97145703 |
nonsense |
probably null |
|
|
R7585:Gfm2
|
UTSW |
13 |
97179032 |
missense |
probably benign |
0.03 |
|
R7597:Gfm2
|
UTSW |
13 |
97172578 |
missense |
probably benign |
0.00 |
|
R7766:Gfm2
|
UTSW |
13 |
97150400 |
missense |
probably damaging |
1.00 |
|
R8290:Gfm2
|
UTSW |
13 |
97145663 |
missense |
probably benign |
0.00 |
|
R8321:Gfm2
|
UTSW |
13 |
97162992 |
missense |
possibly damaging |
0.80 |
|
R8372:Gfm2
|
UTSW |
13 |
97165044 |
missense |
possibly damaging |
0.94 |
|
R8385:Gfm2
|
UTSW |
13 |
97165011 |
missense |
probably benign |
0.41 |
|
R8404:Gfm2
|
UTSW |
13 |
97162977 |
missense |
probably benign |
0.20 |
|
R9003:Gfm2
|
UTSW |
13 |
97146381 |
unclassified |
probably benign |
|
|
R9031:Gfm2
|
UTSW |
13 |
97172693 |
critical splice donor site |
probably null |
|
|
R9115:Gfm2
|
UTSW |
13 |
97165199 |
critical splice donor site |
probably null |
|
|
R9261:Gfm2
|
UTSW |
13 |
97162861 |
nonsense |
probably null |
|
|
R9360:Gfm2
|
UTSW |
13 |
97153244 |
missense |
probably damaging |
0.98 |
|
R9463:Gfm2
|
UTSW |
13 |
97150402 |
missense |
probably damaging |
1.00 |
|
R9575:Gfm2
|
UTSW |
13 |
97149398 |
missense |
not run |
|
|
Z1177:Gfm2
|
UTSW |
13 |
97162992 |
missense |
possibly damaging |
0.93 |
|
Z1177:Gfm2
|
UTSW |
13 |
97162993 |
critical splice donor site |
probably null |
|
|
| Posted On |
2011-12-09 |
Incidental Mutation