Incidental Mutation 'R4083:Mterf4'
| ID |
316970 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mterf4
|
| Ensembl Gene |
ENSMUSG00000026273 |
| Gene Name |
mitochondrial transcription termination factor 4 |
| Synonyms |
4933412H03Rik, Mterfd2, 1810059A23Rik |
| MMRRC Submission |
040978-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4083 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
93228927-93233601 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 93232380 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Arginine
at position 157
(M157R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108566
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027492]
[ENSMUST00000027493]
[ENSMUST00000062202]
[ENSMUST00000112942]
[ENSMUST00000112944]
|
| AlphaFold |
Q8BVN4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027492
AA Change: M157R
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000027492
Gene: ENSMUSG00000026273
AA Change: M157R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
124 |
136 |
N/A |
INTRINSIC |
|
Mterf
|
142 |
172 |
1.28e2 |
SMART |
|
Mterf
|
177 |
208 |
1.1e1 |
SMART |
|
Mterf
|
213 |
244 |
3.89e0 |
SMART |
|
Mterf
|
246 |
274 |
2.06e2 |
SMART |
|
low complexity region
|
323 |
344 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027493
|
| SMART Domains |
Protein: ENSMUSP00000027493
Gene: ENSMUSG00000026274
| Domain | Start | End | E-Value | Type |
|---|
|
PAS
|
119 |
186 |
3.87e-8 |
SMART |
|
PAS
|
333 |
400 |
3.08e-2 |
SMART |
|
low complexity region
|
907 |
918 |
N/A |
INTRINSIC |
|
low complexity region
|
1043 |
1054 |
N/A |
INTRINSIC |
|
S_TKc
|
1059 |
1311 |
8.16e-79 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000062202
|
| SMART Domains |
Protein: ENSMUSP00000050832
Gene: ENSMUSG00000047793
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
NIDO
|
103 |
260 |
2.98e-54 |
SMART |
|
EGF
|
271 |
309 |
3.79e-6 |
SMART |
|
EGF_CA
|
311 |
347 |
2.42e-13 |
SMART |
|
EGF
|
352 |
385 |
1.02e-6 |
SMART |
|
EGF_CA
|
387 |
423 |
1.91e-11 |
SMART |
|
EGF
|
432 |
465 |
2.96e-8 |
SMART |
|
EGF
|
471 |
500 |
6.02e0 |
SMART |
|
EGF
|
544 |
577 |
3.54e-6 |
SMART |
|
EGF
|
583 |
616 |
6.06e-5 |
SMART |
|
EGF_CA
|
619 |
655 |
2.33e-6 |
SMART |
|
EGF
|
660 |
693 |
1.77e-6 |
SMART |
|
CCP
|
698 |
751 |
2.5e-11 |
SMART |
|
EGF_CA
|
753 |
789 |
1.66e-11 |
SMART |
|
EGF_CA
|
791 |
827 |
1.38e-8 |
SMART |
|
EGF_CA
|
829 |
865 |
1.92e-7 |
SMART |
|
EGF
|
870 |
903 |
2.35e-2 |
SMART |
|
FN3
|
906 |
991 |
1.7e-4 |
SMART |
|
FN3
|
1005 |
1084 |
1.38e-4 |
SMART |
|
FN3
|
1104 |
1185 |
1.6e-9 |
SMART |
|
EGF
|
1309 |
1342 |
6.16e-6 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000112942
AA Change: M157R
PolyPhen 2
Score 0.510 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000108564
Gene: ENSMUSG00000026273
AA Change: M157R
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4FP9|H
|
50 |
235 |
7e-55 |
PDB |
|
Blast:Mterf
|
142 |
167 |
1e-7 |
BLAST |
|
Blast:Mterf
|
178 |
208 |
8e-13 |
BLAST |
|
Blast:Mterf
|
213 |
235 |
6e-8 |
BLAST |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000112944
AA Change: M157R
PolyPhen 2
Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000108566
Gene: ENSMUSG00000026273
AA Change: M157R
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4FP9|H
|
50 |
235 |
6e-54 |
PDB |
|
Blast:Mterf
|
142 |
167 |
6e-8 |
BLAST |
|
Blast:Mterf
|
178 |
208 |
2e-12 |
BLAST |
|
Blast:Mterf
|
213 |
235 |
1e-7 |
BLAST |
|
low complexity region
|
253 |
273 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128655
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136754
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152307
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188069
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189856
|
| Meta Mutation Damage Score |
0.0620 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.8%
|
| Validation Efficiency |
97% (31/32) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit complete embryonic lethality associated with decreased embryo size, lack of heart, and absence of optic discs. [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 |
|---|
| Asah2 |
A |
G |
19: 31,964,184 (GRCm39) |
S749P |
probably benign |
Het |
| Ccdc159 |
T |
C |
9: 21,840,699 (GRCm39) |
S89P |
possibly damaging |
Het |
| Cnbd1 |
A |
T |
4: 18,886,042 (GRCm39) |
S326T |
possibly damaging |
Het |
| Dpy19l1 |
G |
A |
9: 24,396,344 (GRCm39) |
T124M |
possibly damaging |
Het |
| Fmod |
A |
T |
1: 133,968,043 (GRCm39) |
I28F |
probably benign |
Het |
| Gm8674 |
A |
T |
13: 50,055,047 (GRCm39) |
|
noncoding transcript |
Het |
| Grm3 |
T |
G |
5: 9,562,054 (GRCm39) |
I599L |
probably benign |
Het |
| Hgf |
G |
T |
5: 16,820,856 (GRCm39) |
G668* |
probably null |
Het |
| Hsd17b11 |
A |
T |
5: 104,138,434 (GRCm39) |
V280D |
possibly damaging |
Het |
| Igkv8-26 |
G |
T |
6: 70,170,547 (GRCm39) |
S46I |
probably damaging |
Het |
| Kdm7a |
T |
C |
6: 39,129,748 (GRCm39) |
E476G |
probably damaging |
Het |
| Lgals9 |
A |
T |
11: 78,860,589 (GRCm39) |
F162Y |
possibly damaging |
Het |
| Lig3 |
T |
A |
11: 82,681,320 (GRCm39) |
N437K |
probably benign |
Het |
| Nbas |
T |
C |
12: 13,524,192 (GRCm39) |
W1683R |
probably damaging |
Het |
| Nmur2 |
G |
C |
11: 55,931,051 (GRCm39) |
P220R |
probably damaging |
Het |
| Or14j10 |
T |
G |
17: 37,935,316 (GRCm39) |
D70A |
probably damaging |
Het |
| Or2ag2 |
G |
T |
7: 106,485,851 (GRCm39) |
P58T |
probably damaging |
Het |
| Pcdh10 |
A |
C |
3: 45,347,142 (GRCm39) |
D979A |
probably damaging |
Het |
| Prb1b |
G |
A |
6: 132,289,657 (GRCm39) |
P56S |
unknown |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Rab27a |
G |
T |
9: 72,989,721 (GRCm39) |
R64L |
probably damaging |
Het |
| Slc19a3 |
A |
T |
1: 83,000,678 (GRCm39) |
F113Y |
probably damaging |
Het |
| Slc22a16 |
T |
A |
10: 40,450,065 (GRCm39) |
L167Q |
probably damaging |
Het |
| Srgap1 |
A |
G |
10: 121,621,595 (GRCm39) |
V989A |
probably damaging |
Het |
| Sstr2 |
T |
C |
11: 113,516,071 (GRCm39) |
V330A |
probably benign |
Het |
| Tdrd1 |
T |
C |
19: 56,831,662 (GRCm39) |
M351T |
probably benign |
Het |
| Trav7d-3 |
C |
A |
14: 52,982,212 (GRCm39) |
H84Q |
probably benign |
Het |
|
| Other mutations in Mterf4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01102:Mterf4
|
APN |
1 |
93,232,812 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL01686:Mterf4
|
APN |
1 |
93,232,443 (GRCm39) |
nonsense |
probably null |
|
|
IGL01770:Mterf4
|
APN |
1 |
93,232,716 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01801:Mterf4
|
APN |
1 |
93,232,642 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01881:Mterf4
|
APN |
1 |
93,232,363 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02393:Mterf4
|
APN |
1 |
93,230,601 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL02413:Mterf4
|
APN |
1 |
93,230,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02812:Mterf4
|
APN |
1 |
93,232,455 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4726:Mterf4
|
UTSW |
1 |
93,229,471 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4926:Mterf4
|
UTSW |
1 |
93,232,647 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6091:Mterf4
|
UTSW |
1 |
93,229,291 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7065:Mterf4
|
UTSW |
1 |
93,232,617 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7780:Mterf4
|
UTSW |
1 |
93,232,689 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7922:Mterf4
|
UTSW |
1 |
93,229,275 (GRCm39) |
nonsense |
probably null |
|
|
R9083:Mterf4
|
UTSW |
1 |
93,229,515 (GRCm39) |
nonsense |
probably null |
|
|
R9539:Mterf4
|
UTSW |
1 |
93,229,188 (GRCm39) |
missense |
unknown |
|
|
X0065:Mterf4
|
UTSW |
1 |
93,229,420 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGGGTATTGATGAATGCAGC -3'
(R):5'- TCCTTGGAGCCTGAAAAGGTC -3'
Sequencing Primer
(F):5'- TGATGAATGCAGCCTAGCTC -3'
(R):5'- GAGCCTGAAAAGGTCATCCGTTC -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation