Incidental Mutation 'IGL02393:Mterf4'
| ID |
293893 |
| 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 # |
IGL02393
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
93228927-93233601 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 93230601 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 182
(V182I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108566
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027492]
[ENSMUST00000062202]
[ENSMUST00000112942]
[ENSMUST00000112944]
|
| AlphaFold |
Q8BVN4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027492
AA Change: V182I
PolyPhen 2
Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000027492
Gene: ENSMUSG00000026273
AA Change: V182I
| 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: 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: V182I
PolyPhen 2
Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000108564
Gene: ENSMUSG00000026273
AA Change: V182I
| 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: V182I
PolyPhen 2
Score 0.812 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000108566
Gene: ENSMUSG00000026273
AA Change: V182I
| 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: 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam32 |
A |
T |
8: 25,410,069 (GRCm39) |
Y129N |
probably damaging |
Het |
| Afap1l2 |
T |
C |
19: 56,902,872 (GRCm39) |
K695R |
probably damaging |
Het |
| Arhgap18 |
T |
G |
10: 26,753,179 (GRCm39) |
S357R |
probably benign |
Het |
| Camsap1 |
T |
C |
2: 25,828,334 (GRCm39) |
H1130R |
probably benign |
Het |
| Cdkl4 |
A |
G |
17: 80,867,844 (GRCm39) |
F35L |
probably damaging |
Het |
| Crnn |
A |
G |
3: 93,056,675 (GRCm39) |
H487R |
probably damaging |
Het |
| Dcaf4 |
C |
T |
12: 83,576,805 (GRCm39) |
P95L |
probably damaging |
Het |
| Deaf1 |
A |
T |
7: 140,893,246 (GRCm39) |
V382E |
possibly damaging |
Het |
| Dph7 |
T |
G |
2: 24,856,609 (GRCm39) |
V187G |
possibly damaging |
Het |
| Fat3 |
G |
T |
9: 15,899,708 (GRCm39) |
C3108* |
probably null |
Het |
| Ggt5 |
T |
C |
10: 75,446,071 (GRCm39) |
|
probably benign |
Het |
| Kif26a |
G |
A |
12: 112,139,098 (GRCm39) |
V396M |
probably damaging |
Het |
| Med17 |
G |
A |
9: 15,188,963 (GRCm39) |
R101* |
probably null |
Het |
| Nsg1 |
T |
C |
5: 38,316,255 (GRCm39) |
D32G |
probably damaging |
Het |
| Or5k8 |
A |
G |
16: 58,644,409 (GRCm39) |
I221T |
probably damaging |
Het |
| Or6c3 |
T |
C |
10: 129,309,064 (GRCm39) |
S168P |
probably damaging |
Het |
| Or6c65 |
T |
A |
10: 129,603,662 (GRCm39) |
V99E |
probably benign |
Het |
| P3h2 |
T |
C |
16: 25,811,575 (GRCm39) |
Y216C |
probably damaging |
Het |
| Pdzd9 |
A |
C |
7: 120,262,206 (GRCm39) |
Y85* |
probably null |
Het |
| Prkdc |
T |
A |
16: 15,634,622 (GRCm39) |
V3589D |
probably benign |
Het |
| Qars1 |
A |
G |
9: 108,391,528 (GRCm39) |
T26A |
probably benign |
Het |
| Relch |
A |
G |
1: 105,615,093 (GRCm39) |
I253M |
probably damaging |
Het |
| Rhd |
T |
C |
4: 134,611,406 (GRCm39) |
S189P |
probably benign |
Het |
| Rhobtb1 |
A |
T |
10: 69,124,817 (GRCm39) |
H555L |
probably damaging |
Het |
| Rogdi |
G |
A |
16: 4,827,088 (GRCm39) |
S306F |
probably benign |
Het |
| Slc25a25 |
C |
T |
2: 32,307,855 (GRCm39) |
V259I |
probably benign |
Het |
| Srrm1 |
A |
T |
4: 135,048,725 (GRCm39) |
|
probably benign |
Het |
| Stkld1 |
T |
C |
2: 26,840,154 (GRCm39) |
V408A |
probably benign |
Het |
| Thbs1 |
T |
C |
2: 117,953,580 (GRCm39) |
V999A |
possibly damaging |
Het |
| Tmprss11d |
T |
A |
5: 86,451,471 (GRCm39) |
*280L |
probably null |
Het |
| Trim54 |
A |
G |
5: 31,289,324 (GRCm39) |
|
probably benign |
Het |
| Tspear |
G |
A |
10: 77,672,407 (GRCm39) |
R202H |
probably damaging |
Het |
| Vwa8 |
G |
A |
14: 79,420,417 (GRCm39) |
G1706D |
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 |
|
IGL01881:Mterf4
|
APN |
1 |
93,232,363 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2015-04-16 |
Incidental Mutation