Incidental Mutation 'IGL00776:Mterf1a'
ID |
12118 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Mterf1a
|
Ensembl Gene |
ENSMUSG00000040429 |
Gene Name |
mitochondrial transcription termination factor 1a |
Synonyms |
9230106K09Rik, 4931431L11Rik, Mterf1, Mterf |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.165)
|
Stock # |
IGL00776
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
3940581-3943933 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 3941809 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Glycine
at position 20
(W20G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113306
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044746]
[ENSMUST00000117463]
|
AlphaFold |
Q8CHZ9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000044746
AA Change: W20G
PolyPhen 2
Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000046017 Gene: ENSMUSG00000040429 AA Change: W20G
Domain | Start | End | E-Value | Type |
low complexity region
|
41 |
59 |
N/A |
INTRINSIC |
Mterf
|
104 |
134 |
1.62e2 |
SMART |
Mterf
|
139 |
171 |
5.81e1 |
SMART |
Mterf
|
176 |
206 |
3.63e0 |
SMART |
Mterf
|
217 |
248 |
8.87e-4 |
SMART |
Mterf
|
293 |
323 |
9.87e2 |
SMART |
Mterf
|
324 |
354 |
1.1e1 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000117463
AA Change: W20G
PolyPhen 2
Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000113306 Gene: ENSMUSG00000040429 AA Change: W20G
Domain | Start | End | E-Value | Type |
low complexity region
|
41 |
59 |
N/A |
INTRINSIC |
Mterf
|
104 |
134 |
1.62e2 |
SMART |
Mterf
|
139 |
171 |
5.81e1 |
SMART |
Mterf
|
176 |
206 |
3.63e0 |
SMART |
Mterf
|
217 |
248 |
8.87e-4 |
SMART |
Mterf
|
293 |
323 |
9.87e2 |
SMART |
Mterf
|
324 |
354 |
1.1e1 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196417
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele of both Mterf1a and Mterf1b exhibit impaired transcription initiation at light-strand promoters resulting in a decrease of de novo transcription and reduced 7S RNA. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 15 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921504E06Rik |
A |
T |
2: 19,545,182 (GRCm39) |
D90E |
probably benign |
Het |
Abcb5 |
T |
C |
12: 118,883,589 (GRCm39) |
S560G |
probably damaging |
Het |
Ankrd24 |
A |
C |
10: 81,478,979 (GRCm39) |
|
probably benign |
Het |
Atp8a1 |
A |
T |
5: 67,906,486 (GRCm39) |
I461N |
probably benign |
Het |
Eif4a1 |
G |
A |
11: 69,559,922 (GRCm39) |
L166F |
probably damaging |
Het |
Herc1 |
T |
A |
9: 66,328,320 (GRCm39) |
H1542Q |
probably benign |
Het |
Itih4 |
G |
A |
14: 30,611,561 (GRCm39) |
V95I |
probably benign |
Het |
Kcnh7 |
A |
G |
2: 62,680,720 (GRCm39) |
I289T |
probably benign |
Het |
Krt86 |
C |
T |
15: 101,371,741 (GRCm39) |
H104Y |
probably benign |
Het |
Slc24a5 |
T |
C |
2: 124,922,809 (GRCm39) |
S161P |
probably damaging |
Het |
Slc25a21 |
G |
A |
12: 56,816,990 (GRCm39) |
T99I |
probably benign |
Het |
Smurf1 |
A |
G |
5: 144,818,584 (GRCm39) |
S619P |
probably benign |
Het |
Sorbs1 |
C |
T |
19: 40,332,795 (GRCm39) |
|
probably null |
Het |
Strn4 |
C |
T |
7: 16,564,377 (GRCm39) |
R185C |
probably damaging |
Het |
Tctn3 |
A |
G |
19: 40,585,865 (GRCm39) |
F560S |
probably damaging |
Het |
|
Other mutations in Mterf1a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00331:Mterf1a
|
APN |
5 |
3,941,610 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02420:Mterf1a
|
APN |
5 |
3,941,047 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02525:Mterf1a
|
APN |
5 |
3,941,583 (GRCm39) |
missense |
probably benign |
0.09 |
R0270:Mterf1a
|
UTSW |
5 |
3,940,990 (GRCm39) |
nonsense |
probably null |
|
R1170:Mterf1a
|
UTSW |
5 |
3,940,964 (GRCm39) |
missense |
probably benign |
0.16 |
R2386:Mterf1a
|
UTSW |
5 |
3,941,225 (GRCm39) |
missense |
probably benign |
0.00 |
R3417:Mterf1a
|
UTSW |
5 |
3,940,795 (GRCm39) |
missense |
probably damaging |
0.99 |
R4520:Mterf1a
|
UTSW |
5 |
3,940,992 (GRCm39) |
missense |
probably damaging |
0.99 |
R4573:Mterf1a
|
UTSW |
5 |
3,941,119 (GRCm39) |
missense |
possibly damaging |
0.72 |
R5068:Mterf1a
|
UTSW |
5 |
3,941,854 (GRCm39) |
missense |
probably benign |
0.00 |
R5111:Mterf1a
|
UTSW |
5 |
3,941,860 (GRCm39) |
missense |
probably benign |
0.00 |
R5152:Mterf1a
|
UTSW |
5 |
3,940,984 (GRCm39) |
missense |
probably damaging |
0.98 |
R6974:Mterf1a
|
UTSW |
5 |
3,940,854 (GRCm39) |
missense |
probably benign |
0.25 |
R7096:Mterf1a
|
UTSW |
5 |
3,941,769 (GRCm39) |
missense |
probably damaging |
0.99 |
R7545:Mterf1a
|
UTSW |
5 |
3,940,995 (GRCm39) |
missense |
probably damaging |
1.00 |
R7704:Mterf1a
|
UTSW |
5 |
3,941,845 (GRCm39) |
missense |
probably benign |
|
R8249:Mterf1a
|
UTSW |
5 |
3,941,550 (GRCm39) |
missense |
probably damaging |
1.00 |
R8385:Mterf1a
|
UTSW |
5 |
3,941,384 (GRCm39) |
missense |
probably damaging |
1.00 |
R8865:Mterf1a
|
UTSW |
5 |
3,941,425 (GRCm39) |
missense |
probably damaging |
1.00 |
R9280:Mterf1a
|
UTSW |
5 |
3,941,539 (GRCm39) |
missense |
probably damaging |
1.00 |
R9558:Mterf1a
|
UTSW |
5 |
3,941,807 (GRCm39) |
nonsense |
probably null |
|
R9559:Mterf1a
|
UTSW |
5 |
3,941,807 (GRCm39) |
nonsense |
probably null |
|
|
Posted On |
2012-12-06 |