Incidental Mutation 'IGL00910:Tsfm'
| ID |
28315 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tsfm
|
| Ensembl Gene |
ENSMUSG00000040521 |
| Gene Name |
Ts translation elongation factor, mitochondrial |
| Synonyms |
9430024O13Rik, EF-Tsmt, 2310050B20Rik, EF-TS |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00910
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
126858201-126866683 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
G to T
at 126864228 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122669
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040560]
[ENSMUST00000116231]
[ENSMUST00000120547]
[ENSMUST00000152054]
|
| AlphaFold |
Q9CZR8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040560
|
| SMART Domains |
Protein: ENSMUSP00000042134
Gene: ENSMUSG00000040521
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
38 |
52 |
N/A |
INTRINSIC |
|
Pfam:EF_TS
|
115 |
273 |
9.6e-23 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000116231
|
| SMART Domains |
Protein: ENSMUSP00000111939
Gene: ENSMUSG00000080115
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Methyltransf_16
|
35 |
198 |
4.4e-39 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120547
|
| SMART Domains |
Protein: ENSMUSP00000113446
Gene: ENSMUSG00000040521
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UBA
|
44 |
81 |
3.4e-10 |
PFAM |
|
Pfam:EF_TS
|
101 |
192 |
1.3e-18 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134917
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138556
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140564
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145476
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152054
|
| SMART Domains |
Protein: ENSMUSP00000122669
Gene: ENSMUSG00000040521
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UBA
|
44 |
81 |
1.2e-10 |
PFAM |
|
SCOP:d1efub4
|
101 |
120 |
5e-4 |
SMART |
|
| 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 mitochondrial translation elongation factor. The encoded protein is an enzyme that catalyzes the exchange of guanine nucleotides on the translation elongation factor Tu during the elongation step of mitchondrial protein translation. Mutations in this gene are associated with combined oxidative phosphorylation deficiency-3 syndrome. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Mar 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5031439G07Rik |
A |
G |
15: 84,840,020 (GRCm39) |
L109P |
probably damaging |
Het |
| Aacs |
T |
A |
5: 125,585,772 (GRCm39) |
M316K |
probably benign |
Het |
| Adarb2 |
T |
C |
13: 8,722,469 (GRCm39) |
V375A |
probably damaging |
Het |
| Adgra2 |
C |
A |
8: 27,576,011 (GRCm39) |
A13E |
possibly damaging |
Het |
| Ankrd34c |
A |
T |
9: 89,611,079 (GRCm39) |
S421T |
probably benign |
Het |
| Bpifa6 |
A |
T |
2: 153,832,386 (GRCm39) |
M298L |
probably benign |
Het |
| Casq2 |
T |
C |
3: 102,017,547 (GRCm39) |
|
probably benign |
Het |
| Ckap5 |
A |
G |
2: 91,406,395 (GRCm39) |
T762A |
probably benign |
Het |
| Dhx38 |
A |
G |
8: 110,285,666 (GRCm39) |
V389A |
probably benign |
Het |
| Dnah7b |
A |
T |
1: 46,105,889 (GRCm39) |
|
probably benign |
Het |
| Dnajc7 |
A |
T |
11: 100,490,017 (GRCm39) |
F79L |
possibly damaging |
Het |
| Dyrk3 |
A |
G |
1: 131,064,073 (GRCm39) |
I3T |
possibly damaging |
Het |
| Fchsd2 |
T |
C |
7: 100,926,833 (GRCm39) |
I641T |
probably benign |
Het |
| Furin |
A |
G |
7: 80,040,744 (GRCm39) |
V698A |
probably benign |
Het |
| Lratd1 |
T |
C |
12: 14,200,527 (GRCm39) |
S67G |
probably benign |
Het |
| Prl2c5 |
G |
A |
13: 13,364,061 (GRCm39) |
|
probably null |
Het |
| Ryr3 |
A |
T |
2: 112,559,279 (GRCm39) |
|
probably benign |
Het |
| Serpina6 |
G |
T |
12: 103,618,224 (GRCm39) |
|
probably benign |
Het |
| Slc6a2 |
A |
G |
8: 93,722,728 (GRCm39) |
Y575C |
probably damaging |
Het |
| Trim9 |
T |
C |
12: 70,393,887 (GRCm39) |
E19G |
probably damaging |
Het |
|
| Other mutations in Tsfm |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00678:Tsfm
|
APN |
10 |
126,864,311 (GRCm39) |
nonsense |
probably null |
|
|
IGL01553:Tsfm
|
APN |
10 |
126,864,259 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0123:Tsfm
|
UTSW |
10 |
126,858,798 (GRCm39) |
intron |
probably benign |
|
|
R0129:Tsfm
|
UTSW |
10 |
126,866,339 (GRCm39) |
missense |
probably benign |
0.28 |
|
R0134:Tsfm
|
UTSW |
10 |
126,858,798 (GRCm39) |
intron |
probably benign |
|
|
R1689:Tsfm
|
UTSW |
10 |
126,864,324 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2004:Tsfm
|
UTSW |
10 |
126,866,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2144:Tsfm
|
UTSW |
10 |
126,864,314 (GRCm39) |
nonsense |
probably null |
|
|
R4574:Tsfm
|
UTSW |
10 |
126,864,242 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4690:Tsfm
|
UTSW |
10 |
126,866,547 (GRCm39) |
intron |
probably benign |
|
|
R5141:Tsfm
|
UTSW |
10 |
126,865,482 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5371:Tsfm
|
UTSW |
10 |
126,847,512 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5801:Tsfm
|
UTSW |
10 |
126,858,706 (GRCm39) |
frame shift |
probably null |
|
|
R5949:Tsfm
|
UTSW |
10 |
126,864,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6959:Tsfm
|
UTSW |
10 |
126,858,778 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7248:Tsfm
|
UTSW |
10 |
126,847,500 (GRCm39) |
missense |
probably benign |
0.31 |
|
R7499:Tsfm
|
UTSW |
10 |
126,858,417 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7810:Tsfm
|
UTSW |
10 |
126,847,558 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9301:Tsfm
|
UTSW |
10 |
126,866,502 (GRCm39) |
missense |
probably benign |
|
|
R9430:Tsfm
|
UTSW |
10 |
126,858,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-04-17 |
Incidental Mutation