Incidental Mutation 'IGL01617:Mterf1b'
| ID |
92406 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mterf1b
|
| Ensembl Gene |
ENSMUSG00000053178 |
| Gene Name |
mitochondrial transcription termination factor 1b |
| Synonyms |
Gm9897 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.269)
|
| Stock # |
IGL01617
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
4242367-4247651 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 4246503 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 48
(D48V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135408
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000177258]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177258
AA Change: D48V
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000135408
Gene: ENSMUSG00000053178
AA Change: D48V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
43 |
61 |
N/A |
INTRINSIC |
|
Mterf
|
106 |
136 |
1.62e2 |
SMART |
|
Mterf
|
141 |
173 |
5.81e1 |
SMART |
|
Mterf
|
178 |
208 |
3.63e0 |
SMART |
|
Mterf
|
219 |
250 |
8.87e-4 |
SMART |
|
Mterf
|
295 |
325 |
9.87e2 |
SMART |
|
Mterf
|
326 |
356 |
1.1e1 |
SMART |
|
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
T |
A |
6: 23,115,149 (GRCm39) |
I160F |
possibly damaging |
Het |
| Cacna1d |
C |
T |
14: 29,824,328 (GRCm39) |
A1030T |
probably damaging |
Het |
| Ceacam13 |
A |
T |
7: 17,745,308 (GRCm39) |
D126V |
possibly damaging |
Het |
| Cep68 |
G |
T |
11: 20,189,510 (GRCm39) |
Q501K |
probably benign |
Het |
| Cfhr1 |
A |
T |
1: 139,481,417 (GRCm39) |
C154* |
probably null |
Het |
| Chd3 |
A |
G |
11: 69,249,060 (GRCm39) |
|
probably benign |
Het |
| Chrna5 |
A |
G |
9: 54,912,297 (GRCm39) |
M262V |
probably damaging |
Het |
| Csrnp2 |
T |
C |
15: 100,382,524 (GRCm39) |
Y172C |
probably benign |
Het |
| Dzip1 |
G |
T |
14: 119,118,477 (GRCm39) |
P752Q |
probably benign |
Het |
| Frem1 |
G |
A |
4: 82,854,376 (GRCm39) |
T1630I |
probably benign |
Het |
| Gabrr1 |
G |
A |
4: 33,162,634 (GRCm39) |
S400N |
probably benign |
Het |
| Hmcn1 |
C |
T |
1: 150,547,783 (GRCm39) |
A2723T |
probably benign |
Het |
| Htt |
A |
G |
5: 35,034,099 (GRCm39) |
H1895R |
possibly damaging |
Het |
| Kif21a |
T |
C |
15: 90,879,840 (GRCm39) |
|
probably benign |
Het |
| Mitf |
A |
G |
6: 97,973,389 (GRCm39) |
I241V |
probably benign |
Het |
| Nmbr |
G |
T |
10: 14,646,173 (GRCm39) |
R349M |
probably benign |
Het |
| Pik3r4 |
T |
C |
9: 105,532,164 (GRCm39) |
S579P |
probably benign |
Het |
| Polr2i |
T |
C |
7: 29,931,817 (GRCm39) |
F16S |
possibly damaging |
Het |
| Psmg2 |
G |
A |
18: 67,786,293 (GRCm39) |
V218I |
probably benign |
Het |
| Rgs11 |
A |
G |
17: 26,427,224 (GRCm39) |
H385R |
probably damaging |
Het |
| Rufy4 |
G |
A |
1: 74,168,513 (GRCm39) |
G99R |
probably damaging |
Het |
| Slc29a1 |
A |
G |
17: 45,900,375 (GRCm39) |
F185S |
probably benign |
Het |
| Spag17 |
G |
A |
3: 100,016,824 (GRCm39) |
V2200I |
possibly damaging |
Het |
| Trappc14 |
A |
T |
5: 138,260,478 (GRCm39) |
L47Q |
probably damaging |
Het |
| Ttc7b |
G |
T |
12: 100,352,215 (GRCm39) |
A414D |
possibly damaging |
Het |
| Ugt2b37 |
A |
T |
5: 87,399,738 (GRCm39) |
W257R |
probably damaging |
Het |
| Ythdc2 |
A |
G |
18: 44,974,482 (GRCm39) |
I381M |
possibly damaging |
Het |
|
| Other mutations in Mterf1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02754:Mterf1b
|
APN |
5 |
4,246,478 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0410:Mterf1b
|
UTSW |
5 |
4,246,488 (GRCm39) |
missense |
probably benign |
0.41 |
|
R1474:Mterf1b
|
UTSW |
5 |
4,247,163 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1875:Mterf1b
|
UTSW |
5 |
4,247,364 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R2089:Mterf1b
|
UTSW |
5 |
4,247,057 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R2091:Mterf1b
|
UTSW |
5 |
4,247,057 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R2091:Mterf1b
|
UTSW |
5 |
4,247,057 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R4657:Mterf1b
|
UTSW |
5 |
4,247,176 (GRCm39) |
nonsense |
probably null |
|
|
R4689:Mterf1b
|
UTSW |
5 |
4,247,263 (GRCm39) |
nonsense |
probably null |
|
|
R5462:Mterf1b
|
UTSW |
5 |
4,246,541 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5750:Mterf1b
|
UTSW |
5 |
4,246,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5813:Mterf1b
|
UTSW |
5 |
4,246,956 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6028:Mterf1b
|
UTSW |
5 |
4,247,666 (GRCm39) |
splice site |
probably null |
|
|
R6248:Mterf1b
|
UTSW |
5 |
4,246,606 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8814:Mterf1b
|
UTSW |
5 |
4,247,456 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8842:Mterf1b
|
UTSW |
5 |
4,246,961 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8962:Mterf1b
|
UTSW |
5 |
4,246,437 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2013-12-09 |
Incidental Mutation