Incidental Mutation 'R5949:Tsfm'
| ID |
472336 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tsfm
|
| Ensembl Gene |
ENSMUSG00000040521 |
| Gene Name |
Ts translation elongation factor, mitochondrial |
| Synonyms |
9430024O13Rik, EF-Tsmt, 2310050B20Rik, EF-TS |
| MMRRC Submission |
044139-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5949 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
126858201-126866683 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 126864244 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 157
(T157M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113446
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040560]
[ENSMUST00000116231]
[ENSMUST00000120547]
[ENSMUST00000152054]
|
| AlphaFold |
Q9CZR8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000040560
AA Change: T157M
PolyPhen 2
Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000042134
Gene: ENSMUSG00000040521
AA Change: T157M
| 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 damaging
Transcript: ENSMUST00000120547
AA Change: T157M
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113446
Gene: ENSMUSG00000040521
AA Change: T157M
| 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 |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.1%
|
| Validation Efficiency |
92% (58/63) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
G |
6: 121,655,032 (GRCm39) |
Y1452C |
probably damaging |
Het |
| Adcy10 |
A |
T |
1: 165,367,386 (GRCm39) |
H552L |
possibly damaging |
Het |
| Alms1-ps1 |
A |
T |
6: 85,698,943 (GRCm39) |
|
noncoding transcript |
Het |
| Arhgap21 |
A |
G |
2: 20,853,852 (GRCm39) |
S1837P |
probably damaging |
Het |
| Atad5 |
G |
T |
11: 79,986,835 (GRCm39) |
E641* |
probably null |
Het |
| Atp8b4 |
T |
A |
2: 126,247,242 (GRCm39) |
T276S |
probably benign |
Het |
| Bptf |
A |
G |
11: 107,001,915 (GRCm39) |
I399T |
probably damaging |
Het |
| Carf |
A |
C |
1: 60,178,472 (GRCm39) |
K295T |
probably damaging |
Het |
| Cd209d |
T |
A |
8: 3,927,949 (GRCm39) |
N52Y |
possibly damaging |
Het |
| Cdh2 |
T |
A |
18: 16,734,687 (GRCm39) |
I779F |
probably damaging |
Het |
| Cdon |
G |
A |
9: 35,398,247 (GRCm39) |
R988H |
probably benign |
Het |
| Cfhr4 |
A |
T |
1: 139,660,887 (GRCm39) |
H600Q |
probably damaging |
Het |
| Cic |
C |
T |
7: 24,971,730 (GRCm39) |
T487M |
probably damaging |
Het |
| Dcps |
A |
G |
9: 35,036,557 (GRCm39) |
|
probably benign |
Het |
| Ddx41 |
A |
G |
13: 55,679,874 (GRCm39) |
C427R |
probably damaging |
Het |
| Diras2 |
T |
C |
13: 52,661,747 (GRCm39) |
K187E |
possibly damaging |
Het |
| Emb |
A |
G |
13: 117,403,928 (GRCm39) |
I227V |
probably benign |
Het |
| Fam193a |
T |
A |
5: 34,597,816 (GRCm39) |
S538T |
possibly damaging |
Het |
| Fchsd1 |
C |
T |
18: 38,092,926 (GRCm39) |
|
probably benign |
Het |
| Galnt6 |
A |
T |
15: 100,594,431 (GRCm39) |
N533K |
probably damaging |
Het |
| Grip1 |
A |
G |
10: 119,886,147 (GRCm39) |
D499G |
probably benign |
Het |
| Ifih1 |
T |
C |
2: 62,440,904 (GRCm39) |
N421D |
probably benign |
Het |
| Ifng |
G |
C |
10: 118,278,529 (GRCm39) |
M63I |
probably benign |
Het |
| Ighv1-43 |
A |
G |
12: 114,910,002 (GRCm39) |
M1T |
probably null |
Het |
| Kif20a |
G |
A |
18: 34,765,468 (GRCm39) |
A822T |
probably benign |
Het |
| Krt87 |
A |
T |
15: 101,385,476 (GRCm39) |
C299S |
probably damaging |
Het |
| Lrrn1 |
G |
T |
6: 107,544,465 (GRCm39) |
V88L |
probably benign |
Het |
| Mapkapk2 |
A |
G |
1: 130,985,742 (GRCm39) |
V173A |
possibly damaging |
Het |
| Mrap2 |
T |
G |
9: 87,064,658 (GRCm39) |
V133G |
probably benign |
Het |
| Nlrp1a |
T |
A |
11: 70,989,815 (GRCm39) |
D984V |
probably damaging |
Het |
| Or4c125 |
A |
G |
2: 89,170,229 (GRCm39) |
V139A |
probably damaging |
Het |
| Or5p59 |
T |
C |
7: 107,703,404 (GRCm39) |
L296P |
probably damaging |
Het |
| Pcdh17 |
T |
C |
14: 84,684,996 (GRCm39) |
Y488H |
probably damaging |
Het |
| Pih1d2 |
C |
T |
9: 50,536,284 (GRCm39) |
P313L |
probably damaging |
Het |
| Ralgapb |
T |
C |
2: 158,296,179 (GRCm39) |
C839R |
probably damaging |
Het |
| Rdh5 |
C |
A |
10: 128,754,136 (GRCm39) |
R29L |
probably benign |
Het |
| Rfx6 |
A |
G |
10: 51,554,429 (GRCm39) |
D90G |
probably benign |
Het |
| Rnf213 |
A |
G |
11: 119,333,905 (GRCm39) |
Y3038C |
probably damaging |
Het |
| Sec14l2 |
A |
T |
11: 4,058,972 (GRCm39) |
V191D |
probably damaging |
Het |
| Slc3a2 |
T |
C |
19: 8,690,759 (GRCm39) |
Y118C |
probably damaging |
Het |
| Sorbs2 |
T |
C |
8: 46,222,934 (GRCm39) |
|
probably null |
Het |
| Stab2 |
A |
G |
10: 86,805,713 (GRCm39) |
L211P |
possibly damaging |
Het |
| Tbc1d9b |
T |
C |
11: 50,038,876 (GRCm39) |
C289R |
probably benign |
Het |
| Tfpi |
T |
C |
2: 84,275,092 (GRCm39) |
E172G |
probably benign |
Het |
| Tmem106b |
T |
A |
6: 13,083,418 (GRCm39) |
M229K |
probably damaging |
Het |
| Tshr |
G |
A |
12: 91,503,992 (GRCm39) |
R310H |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,608,244 (GRCm39) |
A17893V |
possibly damaging |
Het |
| Vps39 |
A |
G |
2: 120,159,149 (GRCm39) |
Y380H |
probably benign |
Het |
| Xylt2 |
G |
A |
11: 94,559,309 (GRCm39) |
R383C |
probably damaging |
Het |
| Zfp719 |
C |
T |
7: 43,233,541 (GRCm39) |
|
probably benign |
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 |
|
|
IGL00910:Tsfm
|
APN |
10 |
126,864,228 (GRCm39) |
intron |
probably benign |
|
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCCAGGACAATCAGAGCTAC -3'
(R):5'- GGTCTCCAACCTTAAGGCAC -3'
Sequencing Primer
(F):5'- GAGAAACCCTGTCTCAACTCCTTC -3'
(R):5'- GGTCTCCAACCTTAAGGCACTTTTAG -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation