Incidental Mutation 'R2386:Mterf1a'
| ID |
247694 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R2386 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
3940581-3943933 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 3941225 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 214
(D214E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113306
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044746]
[ENSMUST00000117463]
|
| AlphaFold |
Q8CHZ9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044746
AA Change: D214E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000046017
Gene: ENSMUSG00000040429
AA Change: D214E
| 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 |
probably benign
Transcript: ENSMUST00000117463
AA Change: D214E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000113306
Gene: ENSMUSG00000040429
AA Change: D214E
| 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 |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 92.7%
|
| 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: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700020L24Rik |
A |
G |
11: 83,328,575 (GRCm39) |
D2G |
probably damaging |
Het |
| Btnl9 |
A |
G |
11: 49,069,602 (GRCm39) |
S226P |
probably damaging |
Het |
| Canx |
A |
T |
11: 50,187,933 (GRCm39) |
D558E |
probably benign |
Het |
| Cd248 |
G |
T |
19: 5,119,221 (GRCm39) |
M356I |
possibly damaging |
Het |
| Col1a1 |
A |
T |
11: 94,841,217 (GRCm39) |
D1200V |
unknown |
Het |
| Dgat2 |
A |
C |
7: 98,806,300 (GRCm39) |
V299G |
possibly damaging |
Het |
| Ercc6 |
G |
A |
14: 32,263,316 (GRCm39) |
|
probably null |
Het |
| Fgfr4 |
T |
C |
13: 55,315,714 (GRCm39) |
V747A |
probably benign |
Het |
| Ftcd |
A |
C |
10: 76,417,211 (GRCm39) |
D240A |
probably damaging |
Het |
| Hs3st3b1 |
C |
A |
11: 63,780,039 (GRCm39) |
E363* |
probably null |
Het |
| Ikbke |
A |
G |
1: 131,187,003 (GRCm39) |
L563P |
probably damaging |
Het |
| Lbhd2 |
A |
T |
12: 111,376,741 (GRCm39) |
T63S |
possibly damaging |
Het |
| Or5p53 |
A |
G |
7: 107,533,480 (GRCm39) |
Y251C |
probably damaging |
Het |
| Pclo |
A |
G |
5: 14,815,261 (GRCm39) |
E4511G |
unknown |
Het |
| Pigs |
A |
G |
11: 78,223,812 (GRCm39) |
Y108C |
probably damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,391,574 (GRCm39) |
T1547A |
probably benign |
Het |
| Pmepa1 |
G |
A |
2: 173,069,926 (GRCm39) |
R210W |
probably damaging |
Het |
| Rad54b |
T |
A |
4: 11,597,874 (GRCm39) |
M253K |
probably benign |
Het |
| Rrp12 |
T |
C |
19: 41,859,723 (GRCm39) |
D1080G |
probably benign |
Het |
| Sox6 |
A |
G |
7: 115,196,740 (GRCm39) |
Y298H |
probably damaging |
Het |
| Tdrd9 |
A |
T |
12: 111,982,334 (GRCm39) |
D475V |
probably damaging |
Het |
| Tmem131 |
G |
A |
1: 36,868,716 (GRCm39) |
H370Y |
probably benign |
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 |
|
IGL00776:Mterf1a
|
APN |
5 |
3,941,809 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGGTACAGTCATTGGAAAGGTC -3'
(R):5'- TTCAAAACGGTGGGATCTGTGG -3'
Sequencing Primer
(F):5'- GAAAGGTCTAAGATTCTAGCTCCTGG -3'
(R):5'- GAAAGATTATGGCATCAGACCTTG -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation