Incidental Mutation 'IGL01881:Mterf4'
| ID |
179027 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mterf4
|
| Ensembl Gene |
ENSMUSG00000026273 |
| Gene Name |
mitochondrial transcription termination factor 4 |
| Synonyms |
4933412H03Rik, Mterfd2, 1810059A23Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01881
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
93228927-93233601 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 93232363 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 163
(S163P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108566
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027492]
[ENSMUST00000027493]
[ENSMUST00000062202]
[ENSMUST00000112942]
[ENSMUST00000112944]
|
| AlphaFold |
Q8BVN4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027492
AA Change: S163P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000027492
Gene: ENSMUSG00000026273
AA Change: S163P
| 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 |
probably damaging
Transcript: ENSMUST00000112942
AA Change: S163P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108564
Gene: ENSMUSG00000026273
AA Change: S163P
| 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 |
probably damaging
Transcript: ENSMUST00000112944
AA Change: S163P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108566
Gene: ENSMUSG00000026273
AA Change: S163P
| 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
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 13 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asl |
A |
T |
5: 130,047,379 (GRCm39) |
|
probably benign |
Het |
| Cd3g |
A |
T |
9: 44,882,566 (GRCm39) |
Y160N |
probably damaging |
Het |
| Exoc8 |
T |
A |
8: 125,623,090 (GRCm39) |
R426W |
probably damaging |
Het |
| Fam216a |
A |
G |
5: 122,505,698 (GRCm39) |
Y114H |
probably damaging |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm3402 |
A |
T |
5: 146,451,408 (GRCm39) |
I89F |
possibly damaging |
Het |
| Gm5862 |
A |
C |
5: 26,227,769 (GRCm39) |
W41G |
probably benign |
Het |
| Myo7b |
G |
A |
18: 32,133,320 (GRCm39) |
|
probably benign |
Het |
| Pde6b |
A |
T |
5: 108,569,366 (GRCm39) |
M358L |
probably benign |
Het |
| Ppp1cb |
A |
G |
5: 32,635,487 (GRCm39) |
I44V |
probably benign |
Het |
| Slitrk3 |
T |
C |
3: 72,956,639 (GRCm39) |
E711G |
probably benign |
Het |
| Trappc9 |
A |
T |
15: 72,871,841 (GRCm39) |
L492Q |
probably damaging |
Het |
| Tulp2 |
C |
T |
7: 45,170,219 (GRCm39) |
R297W |
probably damaging |
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 |
|
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 |
|
R4083:Mterf4
|
UTSW |
1 |
93,232,380 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation