Incidental Mutation 'IGL02413:Mterf4'
| ID |
292336 |
| 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 # |
IGL02413
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
93228927-93233601 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 93230526 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 207
(F207L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108566
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027492]
[ENSMUST00000062202]
[ENSMUST00000112942]
[ENSMUST00000112944]
|
| AlphaFold |
Q8BVN4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027492
AA Change: F207L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000027492
Gene: ENSMUSG00000026273
AA Change: F207L
| 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 |
probably damaging
Transcript: ENSMUST00000112942
AA Change: F207L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108564
Gene: ENSMUSG00000026273
AA Change: F207L
| 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: F207L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108566
Gene: ENSMUSG00000026273
AA Change: F207L
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
C |
A |
16: 20,241,187 (GRCm39) |
|
probably benign |
Het |
| Afap1l1 |
A |
G |
18: 61,866,860 (GRCm39) |
L733P |
probably benign |
Het |
| Aqr |
G |
A |
2: 113,949,261 (GRCm39) |
A979V |
possibly damaging |
Het |
| Axin1 |
A |
G |
17: 26,407,153 (GRCm39) |
E582G |
probably benign |
Het |
| Catsper1 |
T |
C |
19: 5,386,264 (GRCm39) |
S166P |
possibly damaging |
Het |
| Cd248 |
G |
T |
19: 5,120,201 (GRCm39) |
G683V |
probably damaging |
Het |
| Celsr1 |
G |
T |
15: 85,915,427 (GRCm39) |
Q849K |
possibly damaging |
Het |
| Ctnnal1 |
C |
A |
4: 56,835,306 (GRCm39) |
V324F |
probably benign |
Het |
| Ctrc |
C |
A |
4: 141,571,028 (GRCm39) |
V71L |
possibly damaging |
Het |
| Exoc3l |
C |
A |
8: 106,019,070 (GRCm39) |
D465Y |
probably damaging |
Het |
| Flna |
T |
C |
X: 73,284,888 (GRCm39) |
E417G |
probably benign |
Het |
| Grm6 |
T |
A |
11: 50,750,766 (GRCm39) |
V643D |
probably damaging |
Het |
| Inpp4b |
A |
G |
8: 82,759,800 (GRCm39) |
Y615C |
probably benign |
Het |
| Itga3 |
T |
C |
11: 94,959,597 (GRCm39) |
Y92C |
probably damaging |
Het |
| Jak3 |
T |
C |
8: 72,138,763 (GRCm39) |
|
probably null |
Het |
| Kcnh6 |
T |
A |
11: 105,918,460 (GRCm39) |
I823N |
possibly damaging |
Het |
| Klhl38 |
A |
T |
15: 58,186,417 (GRCm39) |
V104D |
probably damaging |
Het |
| Lpo |
C |
T |
11: 87,697,732 (GRCm39) |
V692M |
possibly damaging |
Het |
| Mnd1 |
T |
C |
3: 84,023,786 (GRCm39) |
H100R |
probably benign |
Het |
| Oog3 |
C |
A |
4: 143,884,721 (GRCm39) |
W405L |
probably benign |
Het |
| Or2t26 |
T |
C |
11: 49,039,384 (GRCm39) |
L100P |
probably damaging |
Het |
| Ptpn3 |
A |
G |
4: 57,205,020 (GRCm39) |
Y714H |
probably damaging |
Het |
| Spata31f3 |
T |
C |
4: 42,868,549 (GRCm39) |
D358G |
probably damaging |
Het |
| Steap3 |
T |
C |
1: 120,169,502 (GRCm39) |
Y265C |
probably damaging |
Het |
| Tcl1 |
C |
A |
12: 105,185,082 (GRCm39) |
E43* |
probably null |
Het |
| Terb1 |
A |
G |
8: 105,221,500 (GRCm39) |
|
probably null |
Het |
| Tmprss11a |
T |
A |
5: 86,570,507 (GRCm39) |
I151F |
possibly damaging |
Het |
| Trappc10 |
T |
C |
10: 78,046,610 (GRCm39) |
R430G |
probably damaging |
Het |
| Usp17le |
T |
C |
7: 104,418,933 (GRCm39) |
N70D |
probably benign |
Het |
| Vmn1r45 |
T |
C |
6: 89,910,503 (GRCm39) |
S36G |
possibly damaging |
Het |
| Vsig8 |
A |
C |
1: 172,387,943 (GRCm39) |
Y11S |
probably damaging |
Het |
| Vwa5b2 |
T |
A |
16: 20,416,851 (GRCm39) |
L516Q |
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 |
|
IGL02393:Mterf4
|
APN |
1 |
93,230,601 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
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