Incidental Mutation 'R4172:Guf1'
| ID |
318169 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Guf1
|
| Ensembl Gene |
ENSMUSG00000029208 |
| Gene Name |
GUF1 homolog, GTPase |
| Synonyms |
mtEF4 |
| MMRRC Submission |
044391-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.765)
|
| Stock # |
R4172 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
69714255-69731995 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 69715572 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 52
(N52K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144246
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031113]
[ENSMUST00000087228]
[ENSMUST00000132169]
[ENSMUST00000144363]
[ENSMUST00000154728]
[ENSMUST00000173205]
|
| AlphaFold |
Q8C3X4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031113
AA Change: N52K
PolyPhen 2
Score 0.844 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000031113
Gene: ENSMUSG00000029208
AA Change: N52K
| 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 |
possibly damaging
Transcript: ENSMUST00000087228
AA Change: N52K
PolyPhen 2
Score 0.844 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000084480
Gene: ENSMUSG00000029208
AA Change: N52K
| 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 |
possibly damaging
Transcript: ENSMUST00000132169
AA Change: N52K
PolyPhen 2
Score 0.882 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000144290
Gene: ENSMUSG00000029208
AA Change: N52K
| 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 |
possibly damaging
Transcript: ENSMUST00000144363
AA Change: N46K
PolyPhen 2
Score 0.882 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000114707
Gene: ENSMUSG00000029208
AA Change: N46K
| 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 |
possibly damaging
Transcript: ENSMUST00000154728
AA Change: N52K
PolyPhen 2
Score 0.882 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000144246
Gene: ENSMUSG00000029208
AA Change: N52K
| 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 |
possibly damaging
Transcript: ENSMUST00000173205
AA Change: N39K
PolyPhen 2
Score 0.506 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000133467
Gene: ENSMUSG00000029208
AA Change: N39K
| 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: ENSMUST00000201115
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akip1 |
C |
T |
7: 109,306,716 (GRCm39) |
Q138* |
probably null |
Het |
| Cdc5l |
A |
G |
17: 45,730,698 (GRCm39) |
I196T |
probably damaging |
Het |
| Dnah7b |
G |
T |
1: 46,266,106 (GRCm39) |
R2225L |
probably damaging |
Het |
| Gfra2 |
C |
A |
14: 71,133,521 (GRCm39) |
T117K |
possibly damaging |
Het |
| Gle1 |
T |
C |
2: 29,828,538 (GRCm39) |
I120T |
probably benign |
Het |
| Helq |
T |
C |
5: 100,919,713 (GRCm39) |
K813E |
probably benign |
Het |
| Ighv7-4 |
A |
T |
12: 114,186,635 (GRCm39) |
F46I |
probably damaging |
Het |
| Il6st |
G |
A |
13: 112,631,861 (GRCm39) |
D467N |
probably benign |
Het |
| Jak1 |
C |
A |
4: 101,016,329 (GRCm39) |
V812L |
probably benign |
Het |
| Kank4 |
G |
T |
4: 98,667,358 (GRCm39) |
T363K |
probably damaging |
Het |
| Lcat |
C |
A |
8: 106,669,059 (GRCm39) |
W72L |
possibly damaging |
Het |
| Map2 |
T |
C |
1: 66,452,759 (GRCm39) |
S392P |
possibly damaging |
Het |
| Mtmr2 |
T |
C |
9: 13,711,358 (GRCm39) |
F456L |
probably damaging |
Het |
| Myh8 |
A |
T |
11: 67,183,247 (GRCm39) |
R709W |
probably damaging |
Het |
| Nop14 |
T |
C |
5: 34,807,951 (GRCm39) |
N337S |
probably damaging |
Het |
| Npbwr1 |
A |
G |
1: 5,987,155 (GRCm39) |
Y120H |
probably damaging |
Het |
| Or4c58 |
T |
G |
2: 89,675,122 (GRCm39) |
D65A |
probably damaging |
Het |
| Oxsm |
A |
T |
14: 16,242,079 (GRCm38) |
V230E |
probably damaging |
Het |
| Paox |
G |
A |
7: 139,713,941 (GRCm39) |
G234R |
probably damaging |
Het |
| Polq |
C |
T |
16: 36,881,120 (GRCm39) |
H1095Y |
probably benign |
Het |
| Rad51c |
T |
C |
11: 87,293,572 (GRCm39) |
T77A |
probably damaging |
Het |
| Ryr3 |
C |
A |
2: 112,624,815 (GRCm39) |
V2202F |
probably damaging |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Snx27 |
T |
C |
3: 94,410,794 (GRCm39) |
H452R |
probably benign |
Het |
| Son |
C |
T |
16: 91,456,250 (GRCm39) |
H1666Y |
probably damaging |
Het |
| Spata25 |
C |
A |
2: 164,669,408 (GRCm39) |
W201L |
possibly damaging |
Het |
| Spint2 |
A |
G |
7: 28,963,097 (GRCm39) |
V67A |
probably damaging |
Het |
| Srgap1 |
T |
C |
10: 121,691,268 (GRCm39) |
Y322C |
probably benign |
Het |
| Synm |
T |
C |
7: 67,385,109 (GRCm39) |
Y409C |
probably damaging |
Het |
| Tex11 |
C |
A |
X: 99,977,021 (GRCm39) |
A487S |
possibly damaging |
Het |
| Tpm1 |
T |
C |
9: 66,930,649 (GRCm39) |
N283D |
probably benign |
Het |
| Trpv6 |
T |
C |
6: 41,602,432 (GRCm39) |
D318G |
probably damaging |
Het |
| Ube2j2 |
A |
G |
4: 156,033,543 (GRCm39) |
D39G |
probably damaging |
Het |
| Ubr1 |
C |
T |
2: 120,777,103 (GRCm39) |
|
probably null |
Het |
| Vwa5a |
T |
C |
9: 38,635,166 (GRCm39) |
F224L |
probably damaging |
Het |
| Zfp445 |
T |
A |
9: 122,681,002 (GRCm39) |
M980L |
probably benign |
Het |
|
| Other mutations in Guf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01580:Guf1
|
APN |
5 |
69,722,764 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATACATCTTTATTAGGGAGCGGG -3'
(R):5'- TGCGCCTTCACAGTGATTCC -3'
Sequencing Primer
(F):5'- CGGGGAGCTTACAAAACTGC -3'
(R):5'- GAAGCATTTACTAATTTCTCTGGGC -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation