Incidental Mutation 'PIT4449001:Tufm'
| ID |
555736 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tufm
|
| Ensembl Gene |
ENSMUSG00000073838 |
| Gene Name |
Tu translation elongation factor, mitochondrial |
| Synonyms |
C76308, 2300002G02Rik, EF-TuMT |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.958)
|
| Stock # |
PIT4449001 (G1)
|
| Quality Score |
202.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
126086533-126089903 bp(+) (GRCm39) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
T to C
at 126086621 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 1
(M1T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095656
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040202]
[ENSMUST00000098048]
[ENSMUST00000106392]
[ENSMUST00000167759]
[ENSMUST00000206055]
[ENSMUST00000206265]
[ENSMUST00000206572]
[ENSMUST00000206577]
|
| AlphaFold |
Q8BFR5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040202
|
| SMART Domains |
Protein: ENSMUSP00000035415
Gene: ENSMUSG00000032637
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
36 |
54 |
N/A |
INTRINSIC |
|
low complexity region
|
56 |
73 |
N/A |
INTRINSIC |
|
Pfam:SM-ATX
|
119 |
189 |
8.5e-21 |
PFAM |
|
LsmAD
|
262 |
331 |
1.95e-28 |
SMART |
|
low complexity region
|
357 |
382 |
N/A |
INTRINSIC |
|
low complexity region
|
450 |
470 |
N/A |
INTRINSIC |
|
Pfam:PAM2
|
657 |
672 |
5.6e-8 |
PFAM |
|
low complexity region
|
681 |
697 |
N/A |
INTRINSIC |
|
low complexity region
|
764 |
787 |
N/A |
INTRINSIC |
|
low complexity region
|
920 |
947 |
N/A |
INTRINSIC |
|
low complexity region
|
979 |
991 |
N/A |
INTRINSIC |
|
low complexity region
|
997 |
1008 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000098048
AA Change: M1T
PolyPhen 2
Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000095656
Gene: ENSMUSG00000073838
AA Change: M1T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GTP_EFTU
|
55 |
249 |
2e-55 |
PFAM |
|
Pfam:GTP_EFTU_D2
|
272 |
341 |
1.3e-15 |
PFAM |
|
Pfam:GTP_EFTU_D3
|
345 |
440 |
1.1e-23 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000106392
AA Change: M1T
PolyPhen 2
Score 0.382 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000102000
Gene: ENSMUSG00000073838
AA Change: M1T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GTP_EFTU
|
55 |
249 |
2.7e-57 |
PFAM |
|
Pfam:GTP_EFTU_D2
|
272 |
341 |
2.1e-16 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167759
|
| SMART Domains |
Protein: ENSMUSP00000132959
Gene: ENSMUSG00000032637
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SM-ATX
|
33 |
103 |
8.1e-23 |
PFAM |
|
LsmAD
|
176 |
245 |
1.95e-28 |
SMART |
|
low complexity region
|
271 |
296 |
N/A |
INTRINSIC |
|
low complexity region
|
364 |
384 |
N/A |
INTRINSIC |
|
Pfam:PAM2
|
571 |
587 |
4.2e-8 |
PFAM |
|
low complexity region
|
595 |
611 |
N/A |
INTRINSIC |
|
low complexity region
|
678 |
701 |
N/A |
INTRINSIC |
|
low complexity region
|
834 |
861 |
N/A |
INTRINSIC |
|
low complexity region
|
893 |
905 |
N/A |
INTRINSIC |
|
low complexity region
|
911 |
922 |
N/A |
INTRINSIC |
|
low complexity region
|
944 |
960 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206055
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206265
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206572
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206577
|
| Coding Region Coverage |
- 1x: 93.3%
- 3x: 90.8%
- 10x: 84.7%
- 20x: 71.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which participates in protein translation in mitochondria. Mutations in this gene have been associated with combined oxidative phosphorylation deficiency resulting in lactic acidosis and fatal encephalopathy. A pseudogene has been identified on chromosome 17. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asf1b |
A |
G |
8: 84,694,611 (GRCm39) |
N125S |
probably benign |
Het |
| BC048671 |
T |
A |
6: 90,282,145 (GRCm39) |
L101I |
probably damaging |
Het |
| Camta1 |
A |
G |
4: 151,216,043 (GRCm39) |
L959P |
probably benign |
Het |
| Cfap91 |
T |
C |
16: 38,148,720 (GRCm39) |
E236G |
probably damaging |
Het |
| Cfh |
C |
A |
1: 140,040,303 (GRCm39) |
V598F |
probably damaging |
Het |
| Cyp2j7 |
G |
T |
4: 96,103,575 (GRCm39) |
T320K |
probably damaging |
Het |
| Ddr1 |
A |
G |
17: 35,998,141 (GRCm39) |
I468T |
possibly damaging |
Het |
| Dhx15 |
A |
G |
5: 52,318,300 (GRCm39) |
V510A |
probably damaging |
Het |
| Dpp4 |
T |
A |
2: 62,186,988 (GRCm39) |
K507N |
probably benign |
Het |
| Evpl |
G |
A |
11: 116,124,225 (GRCm39) |
T198M |
possibly damaging |
Het |
| Gabbr1 |
G |
A |
17: 37,367,242 (GRCm39) |
V373I |
probably damaging |
Het |
| Gak |
A |
T |
5: 108,728,791 (GRCm39) |
S1049T |
probably benign |
Het |
| Gipr |
C |
T |
7: 18,894,543 (GRCm39) |
R253H |
probably benign |
Het |
| Gm3685 |
T |
A |
14: 7,043,960 (GRCm38) |
M73L |
probably benign |
Het |
| Gm5168 |
C |
T |
X: 25,994,840 (GRCm39) |
R129Q |
probably null |
Het |
| Kcnh1 |
T |
A |
1: 192,100,992 (GRCm39) |
V555D |
probably damaging |
Het |
| Kif26b |
T |
C |
1: 178,745,651 (GRCm39) |
S1916P |
probably damaging |
Het |
| Lingo4 |
T |
C |
3: 94,309,239 (GRCm39) |
V59A |
probably benign |
Het |
| Mroh8 |
T |
A |
2: 157,067,454 (GRCm39) |
Q635L |
probably damaging |
Het |
| Msh6 |
T |
A |
17: 88,293,616 (GRCm39) |
D790E |
probably damaging |
Het |
| Nrxn1 |
A |
T |
17: 90,905,007 (GRCm39) |
W809R |
probably damaging |
Het |
| Or5ac19 |
C |
A |
16: 59,089,493 (GRCm39) |
C179F |
probably damaging |
Het |
| Polr3d |
T |
C |
14: 70,676,903 (GRCm39) |
H397R |
probably benign |
Het |
| Pwp2 |
G |
A |
10: 78,014,304 (GRCm39) |
T432I |
probably benign |
Het |
| Rad21 |
G |
C |
15: 51,836,639 (GRCm39) |
F177L |
probably benign |
Het |
| Rnf182 |
G |
A |
13: 43,822,153 (GRCm39) |
V235I |
probably benign |
Het |
| Scn11a |
C |
T |
9: 119,599,014 (GRCm39) |
C1172Y |
probably damaging |
Het |
| Sh2b3 |
A |
G |
5: 121,966,742 (GRCm39) |
L124P |
possibly damaging |
Het |
| Six2 |
T |
C |
17: 85,992,906 (GRCm39) |
N199S |
probably benign |
Het |
| Slc5a3 |
A |
G |
16: 91,874,702 (GRCm39) |
D253G |
probably benign |
Het |
| Synm |
A |
G |
7: 67,385,025 (GRCm39) |
M879T |
probably benign |
Het |
| Tasp1 |
A |
G |
2: 139,752,455 (GRCm39) |
I328T |
possibly damaging |
Het |
| Tbrg4 |
T |
C |
11: 6,569,689 (GRCm39) |
Q309R |
probably damaging |
Het |
| Tmtc2 |
A |
G |
10: 105,139,465 (GRCm39) |
L687P |
probably damaging |
Het |
| Trgc3 |
A |
T |
13: 19,447,532 (GRCm39) |
R162* |
probably null |
Het |
| Vmn2r116 |
A |
C |
17: 23,607,921 (GRCm39) |
L496F |
probably benign |
Het |
| Vmn2r75 |
C |
T |
7: 85,814,791 (GRCm39) |
C234Y |
probably damaging |
Het |
| Wars2 |
G |
T |
3: 99,112,595 (GRCm39) |
V162L |
possibly damaging |
Het |
| Zc3h11a |
A |
T |
1: 133,552,349 (GRCm39) |
V586D |
probably benign |
Het |
| Zdhhc5 |
A |
T |
2: 84,520,571 (GRCm39) |
N535K |
probably damaging |
Het |
| Zfp52 |
T |
C |
17: 21,777,478 (GRCm39) |
Y38H |
probably damaging |
Het |
| Zfp729b |
T |
C |
13: 67,739,542 (GRCm39) |
M908V |
probably benign |
Het |
| Zfp772 |
T |
C |
7: 7,207,350 (GRCm39) |
I114V |
probably benign |
Het |
|
| Other mutations in Tufm |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02148:Tufm
|
APN |
7 |
126,088,332 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0140:Tufm
|
UTSW |
7 |
126,089,003 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0383:Tufm
|
UTSW |
7 |
126,089,036 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0615:Tufm
|
UTSW |
7 |
126,086,654 (GRCm39) |
missense |
probably benign |
|
|
R1158:Tufm
|
UTSW |
7 |
126,088,614 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1713:Tufm
|
UTSW |
7 |
126,086,871 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1766:Tufm
|
UTSW |
7 |
126,089,644 (GRCm39) |
missense |
probably benign |
0.10 |
|
R2172:Tufm
|
UTSW |
7 |
126,088,019 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3721:Tufm
|
UTSW |
7 |
126,089,632 (GRCm39) |
missense |
probably benign |
|
|
R6027:Tufm
|
UTSW |
7 |
126,086,920 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6331:Tufm
|
UTSW |
7 |
126,088,410 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6983:Tufm
|
UTSW |
7 |
126,088,607 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7324:Tufm
|
UTSW |
7 |
126,088,759 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7430:Tufm
|
UTSW |
7 |
126,088,299 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7883:Tufm
|
UTSW |
7 |
126,088,114 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8777:Tufm
|
UTSW |
7 |
126,088,034 (GRCm39) |
missense |
probably benign |
0.25 |
|
R8777-TAIL:Tufm
|
UTSW |
7 |
126,088,034 (GRCm39) |
missense |
probably benign |
0.25 |
|
R9189:Tufm
|
UTSW |
7 |
126,088,849 (GRCm39) |
nonsense |
probably null |
|
|
R9263:Tufm
|
UTSW |
7 |
126,088,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0067:Tufm
|
UTSW |
7 |
126,087,504 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGAAATTCCCCATCGTCCC -3'
(R):5'- GACCTTGCAGAAATGGGGTC -3'
Sequencing Primer
(F):5'- GCTCCATGCCCGGATATCAG -3'
(R):5'- AAATGGGGTCGGGCTGGC -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation