Incidental Mutation 'R1158:Tufm'
| ID |
101888 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tufm
|
| Ensembl Gene |
ENSMUSG00000073838 |
| Gene Name |
Tu translation elongation factor, mitochondrial |
| Synonyms |
C76308, 2300002G02Rik, EF-TuMT |
| MMRRC Submission |
039231-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.958)
|
| Stock # |
R1158 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
126086533-126089903 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 126088614 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145924
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040202]
[ENSMUST00000098048]
[ENSMUST00000098048]
[ENSMUST00000106392]
[ENSMUST00000106392]
[ENSMUST00000166682]
[ENSMUST00000167759]
[ENSMUST00000206572]
[ENSMUST00000206577]
[ENSMUST00000206055]
[ENSMUST00000206265]
|
| 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
|
| SMART Domains |
Protein: ENSMUSP00000095656
Gene: ENSMUSG00000073838
| 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: ENSMUST00000098048
|
| SMART Domains |
Protein: ENSMUSP00000095656
Gene: ENSMUSG00000073838
| 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
|
| SMART Domains |
Protein: ENSMUSP00000102000
Gene: ENSMUSG00000073838
| 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 null
Transcript: ENSMUST00000106392
|
| SMART Domains |
Protein: ENSMUSP00000102000
Gene: ENSMUSG00000073838
| 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: ENSMUST00000166682
|
| SMART Domains |
Protein: ENSMUSP00000125881
Gene: ENSMUSG00000032637
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SM-ATX
|
1 |
69 |
1.6e-21 |
PFAM |
|
LsmAD
|
142 |
211 |
1.95e-28 |
SMART |
|
low complexity region
|
237 |
262 |
N/A |
INTRINSIC |
|
low complexity region
|
330 |
350 |
N/A |
INTRINSIC |
|
Pfam:PAM2
|
537 |
553 |
4.3e-8 |
PFAM |
|
low complexity region
|
561 |
577 |
N/A |
INTRINSIC |
|
low complexity region
|
644 |
667 |
N/A |
INTRINSIC |
|
low complexity region
|
800 |
827 |
N/A |
INTRINSIC |
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000205346
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205478
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000206572
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206577
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206055
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206265
|
| Meta Mutation Damage Score |
0.9598 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 89.3%
|
| Validation Efficiency |
98% (43/44) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adpgk |
T |
C |
9: 59,217,566 (GRCm39) |
V193A |
possibly damaging |
Het |
| Ahnak |
A |
C |
19: 8,991,290 (GRCm39) |
E4191D |
probably benign |
Het |
| BC024139 |
T |
A |
15: 76,004,542 (GRCm39) |
|
probably benign |
Het |
| Bpifb9a |
T |
G |
2: 154,104,184 (GRCm39) |
I209S |
probably benign |
Het |
| Bst1 |
T |
G |
5: 43,997,834 (GRCm39) |
|
probably null |
Het |
| Cacna1c |
C |
T |
6: 118,589,586 (GRCm39) |
R1446H |
probably damaging |
Het |
| Carf |
A |
G |
1: 60,186,998 (GRCm39) |
K499E |
probably benign |
Het |
| Casq2 |
A |
G |
3: 102,024,199 (GRCm39) |
E147G |
probably damaging |
Het |
| Cd8a |
T |
A |
6: 71,350,712 (GRCm39) |
V59D |
probably damaging |
Het |
| Chrm5 |
T |
C |
2: 112,310,214 (GRCm39) |
T301A |
probably benign |
Het |
| Cog5 |
G |
A |
12: 31,920,056 (GRCm39) |
|
probably benign |
Het |
| Csmd3 |
T |
C |
15: 48,156,170 (GRCm39) |
|
probably null |
Het |
| Dop1a |
T |
C |
9: 86,367,609 (GRCm39) |
S31P |
probably damaging |
Het |
| Eif1ad9 |
A |
T |
12: 88,296,438 (GRCm39) |
I139F |
unknown |
Het |
| Epb41 |
T |
C |
4: 131,727,502 (GRCm39) |
|
probably benign |
Het |
| Fhod3 |
C |
T |
18: 25,118,293 (GRCm39) |
A210V |
probably damaging |
Het |
| Gdpgp1 |
T |
C |
7: 79,888,250 (GRCm39) |
F94L |
probably benign |
Het |
| Hlx |
G |
T |
1: 184,464,184 (GRCm39) |
A52D |
probably damaging |
Het |
| Htr3b |
T |
C |
9: 48,847,390 (GRCm39) |
K375R |
possibly damaging |
Het |
| Inhbe |
G |
A |
10: 127,187,186 (GRCm39) |
R77W |
probably damaging |
Het |
| Itgb8 |
T |
C |
12: 119,166,231 (GRCm39) |
E100G |
probably damaging |
Het |
| Jakmip1 |
T |
C |
5: 37,248,472 (GRCm39) |
V44A |
possibly damaging |
Het |
| Lrp12 |
A |
G |
15: 39,741,827 (GRCm39) |
V315A |
probably damaging |
Het |
| Lrp1b |
T |
A |
2: 40,567,506 (GRCm39) |
T305S |
unknown |
Het |
| Map3k2 |
A |
G |
18: 32,350,211 (GRCm39) |
T354A |
probably benign |
Het |
| Mmp16 |
T |
C |
4: 17,987,726 (GRCm39) |
|
probably null |
Het |
| Mphosph10 |
T |
C |
7: 64,038,607 (GRCm39) |
|
probably benign |
Het |
| Or10a48 |
A |
G |
7: 108,424,385 (GRCm39) |
S274P |
probably damaging |
Het |
| Or10ak7 |
A |
T |
4: 118,791,614 (GRCm39) |
C144S |
probably damaging |
Het |
| Or4c52 |
T |
A |
2: 89,845,598 (GRCm39) |
I108N |
possibly damaging |
Het |
| Or4k47 |
T |
C |
2: 111,452,086 (GRCm39) |
E111G |
probably damaging |
Het |
| Or5p52 |
G |
A |
7: 107,502,130 (GRCm39) |
V69I |
possibly damaging |
Het |
| Slc43a3 |
C |
A |
2: 84,768,140 (GRCm39) |
F37L |
probably benign |
Het |
| Slf2 |
G |
T |
19: 44,919,855 (GRCm39) |
A36S |
probably damaging |
Het |
| Sorcs1 |
T |
C |
19: 50,132,598 (GRCm39) |
|
probably benign |
Het |
| Thsd7b |
A |
C |
1: 130,117,672 (GRCm39) |
|
probably null |
Het |
| Tnfrsf18 |
A |
C |
4: 156,112,739 (GRCm39) |
I142L |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,632,855 (GRCm39) |
|
probably benign |
Het |
| Vmn2r69 |
A |
T |
7: 85,059,058 (GRCm39) |
|
probably benign |
Het |
| Zfp385c |
T |
C |
11: 100,520,709 (GRCm39) |
|
probably benign |
Het |
| Zfp964 |
T |
A |
8: 70,116,503 (GRCm39) |
C368S |
unknown |
Het |
| Zswim8 |
G |
A |
14: 20,771,736 (GRCm39) |
|
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 |
|
PIT4449001:Tufm
|
UTSW |
7 |
126,086,621 (GRCm39) |
start codon destroyed |
probably null |
0.77 |
|
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 |
|
|
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 |
|
| Posted On |
2014-01-15 |
Incidental Mutation