Incidental Mutation 'IGL01580:Guf1'
| ID |
91369 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Guf1
|
| Ensembl Gene |
ENSMUSG00000029208 |
| Gene Name |
GUF1 homolog, GTPase |
| Synonyms |
mtEF4 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.765)
|
| Stock # |
IGL01580
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
69714255-69731995 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 69722764 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133467
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031113]
[ENSMUST00000087228]
[ENSMUST00000132169]
[ENSMUST00000144363]
[ENSMUST00000154728]
[ENSMUST00000173205]
|
| AlphaFold |
Q8C3X4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031113
|
| SMART Domains |
Protein: ENSMUSP00000031113
Gene: ENSMUSG00000029208
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
29 |
N/A |
INTRINSIC |
|
Pfam:GTP_EFTU
|
48 |
227 |
2.9e-53 |
PFAM |
|
Pfam:MMR_HSR1
|
52 |
177 |
1.1e-7 |
PFAM |
|
Pfam:Ras
|
83 |
227 |
2.4e-7 |
PFAM |
|
low complexity region
|
336 |
349 |
N/A |
INTRINSIC |
|
EFG_C
|
364 |
450 |
9.13e-1 |
SMART |
|
Pfam:LepA_C
|
452 |
559 |
3.1e-48 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000087228
|
| SMART Domains |
Protein: ENSMUSP00000084480
Gene: ENSMUSG00000029208
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
29 |
N/A |
INTRINSIC |
|
Pfam:GTP_EFTU
|
48 |
227 |
3.1e-54 |
PFAM |
|
Pfam:MMR_HSR1
|
52 |
177 |
4.1e-6 |
PFAM |
|
Pfam:Ras
|
83 |
226 |
2.9e-7 |
PFAM |
|
Pfam:GTP_EFTU_D2
|
250 |
320 |
7e-10 |
PFAM |
|
low complexity region
|
424 |
437 |
N/A |
INTRINSIC |
|
EFG_C
|
452 |
538 |
9.13e-1 |
SMART |
|
Pfam:LepA_C
|
540 |
646 |
1.3e-48 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125543
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125660
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132169
|
| SMART Domains |
Protein: ENSMUSP00000144290
Gene: ENSMUSG00000029208
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
29 |
N/A |
INTRINSIC |
|
Pfam:GTP_EFTU
|
48 |
227 |
6.2e-54 |
PFAM |
|
Pfam:MMR_HSR1
|
52 |
177 |
6.2e-6 |
PFAM |
|
Pfam:Ras
|
83 |
226 |
1.2e-6 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144363
|
| SMART Domains |
Protein: ENSMUSP00000114707
Gene: ENSMUSG00000029208
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
23 |
N/A |
INTRINSIC |
|
Pfam:GTP_EFTU
|
42 |
221 |
5.8e-54 |
PFAM |
|
Pfam:MMR_HSR1
|
46 |
171 |
5.9e-6 |
PFAM |
|
Pfam:Ras
|
77 |
220 |
1.1e-6 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154728
|
| SMART Domains |
Protein: ENSMUSP00000144246
Gene: ENSMUSG00000029208
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
29 |
N/A |
INTRINSIC |
|
Pfam:GTP_EFTU
|
48 |
227 |
6.2e-54 |
PFAM |
|
Pfam:MMR_HSR1
|
52 |
177 |
6.2e-6 |
PFAM |
|
Pfam:Ras
|
83 |
226 |
1.2e-6 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173205
|
| SMART Domains |
Protein: ENSMUSP00000133467
Gene: ENSMUSG00000029208
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GTP_EFTU
|
11 |
190 |
1.1e-53 |
PFAM |
|
Pfam:MMR_HSR1
|
15 |
140 |
2.6e-8 |
PFAM |
|
Pfam:Ras
|
46 |
190 |
1.6e-7 |
PFAM |
|
Pfam:GTP_EFTU_D2
|
213 |
283 |
3.1e-9 |
PFAM |
|
Pfam:EFG_C
|
369 |
454 |
1e-16 |
PFAM |
|
Pfam:LepA_C
|
455 |
562 |
4.5e-50 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202180
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a GTPase that triggers back-translocation of the elongating ribosome during mitochondrial protein synthesis. The protein contains a highly conserved C-terminal domain not found in other GTPases that facilitates tRNA binding. The encoded protein is thought to prevent misincorporation of amino acids in stressful, suboptimal conditions. An allelic variant in this gene has been associated with early infantile epileptic encephalopathy-40. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
G |
A |
11: 9,243,527 (GRCm39) |
V1797I |
probably benign |
Het |
| Abi3bp |
A |
G |
16: 56,495,573 (GRCm39) |
E865G |
probably damaging |
Het |
| Ahnak |
A |
G |
19: 8,980,203 (GRCm39) |
T496A |
probably benign |
Het |
| BC030500 |
T |
C |
8: 59,366,054 (GRCm39) |
|
probably benign |
Het |
| Col6a4 |
A |
C |
9: 105,945,397 (GRCm39) |
Y906D |
probably damaging |
Het |
| Dip2c |
T |
G |
13: 9,687,124 (GRCm39) |
|
probably null |
Het |
| Frem2 |
A |
G |
3: 53,562,596 (GRCm39) |
I637T |
probably damaging |
Het |
| Htr1f |
G |
A |
16: 64,746,198 (GRCm39) |
R365* |
probably null |
Het |
| Oog4 |
T |
C |
4: 143,165,682 (GRCm39) |
N155S |
probably benign |
Het |
| Or10ag2 |
A |
T |
2: 87,248,880 (GRCm39) |
I163F |
probably benign |
Het |
| Or52x1 |
T |
C |
7: 104,853,113 (GRCm39) |
I146V |
probably benign |
Het |
| Phactr3 |
C |
A |
2: 177,911,297 (GRCm39) |
|
probably benign |
Het |
| Pi4k2b |
T |
C |
5: 52,912,003 (GRCm39) |
V300A |
possibly damaging |
Het |
| Pik3c2g |
A |
G |
6: 139,599,514 (GRCm39) |
D210G |
probably damaging |
Het |
| Pxdn |
A |
G |
12: 30,034,492 (GRCm39) |
T182A |
probably benign |
Het |
| Scn10a |
A |
G |
9: 119,456,225 (GRCm39) |
V1199A |
probably damaging |
Het |
| Scrn2 |
A |
G |
11: 96,922,956 (GRCm39) |
H133R |
probably benign |
Het |
| Shq1 |
G |
A |
6: 100,550,705 (GRCm39) |
S411L |
possibly damaging |
Het |
| Tmcc1 |
A |
C |
6: 116,019,946 (GRCm39) |
V462G |
possibly damaging |
Het |
|
| Other mutations in Guf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01739:Guf1
|
APN |
5 |
69,718,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03110:Guf1
|
APN |
5 |
69,715,820 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0054:Guf1
|
UTSW |
5 |
69,716,904 (GRCm39) |
synonymous |
silent |
|
|
R0219:Guf1
|
UTSW |
5 |
69,716,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0269:Guf1
|
UTSW |
5 |
69,716,942 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0624:Guf1
|
UTSW |
5 |
69,715,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0690:Guf1
|
UTSW |
5 |
69,723,695 (GRCm39) |
splice site |
probably null |
|
|
R0906:Guf1
|
UTSW |
5 |
69,723,729 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1082:Guf1
|
UTSW |
5 |
69,724,555 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1386:Guf1
|
UTSW |
5 |
69,720,505 (GRCm39) |
missense |
probably benign |
|
|
R1506:Guf1
|
UTSW |
5 |
69,724,509 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1859:Guf1
|
UTSW |
5 |
69,725,803 (GRCm39) |
nonsense |
probably null |
|
|
R1982:Guf1
|
UTSW |
5 |
69,724,569 (GRCm39) |
nonsense |
probably null |
|
|
R3782:Guf1
|
UTSW |
5 |
69,724,495 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3847:Guf1
|
UTSW |
5 |
69,718,500 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4172:Guf1
|
UTSW |
5 |
69,715,572 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4513:Guf1
|
UTSW |
5 |
69,719,005 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4592:Guf1
|
UTSW |
5 |
69,723,786 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R4811:Guf1
|
UTSW |
5 |
69,721,852 (GRCm39) |
splice site |
probably null |
|
|
R5435:Guf1
|
UTSW |
5 |
69,720,512 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5792:Guf1
|
UTSW |
5 |
69,717,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6181:Guf1
|
UTSW |
5 |
69,719,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6246:Guf1
|
UTSW |
5 |
69,715,898 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6411:Guf1
|
UTSW |
5 |
69,717,854 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6701:Guf1
|
UTSW |
5 |
69,715,596 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6724:Guf1
|
UTSW |
5 |
69,723,736 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7634:Guf1
|
UTSW |
5 |
69,721,887 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7923:Guf1
|
UTSW |
5 |
69,718,502 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8202:Guf1
|
UTSW |
5 |
69,720,545 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8387:Guf1
|
UTSW |
5 |
69,723,810 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9567:Guf1
|
UTSW |
5 |
69,721,951 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9734:Guf1
|
UTSW |
5 |
69,726,605 (GRCm39) |
nonsense |
probably null |
|
|
X0018:Guf1
|
UTSW |
5 |
69,723,709 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2013-12-09 |
Incidental Mutation