Incidental Mutation 'R6350:Mief1'
| ID |
514170 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mief1
|
| Ensembl Gene |
ENSMUSG00000022412 |
| Gene Name |
mitochondrial elongation factor 1 |
| Synonyms |
Smcr7l |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6350 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
80118284-80137572 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 80133804 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 287
(I287T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154875
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023048]
[ENSMUST00000166030]
[ENSMUST00000228788]
[ENSMUST00000229138]
|
| AlphaFold |
Q8BGV8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023048
AA Change: I287T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000023048
Gene: ENSMUSG00000022412
AA Change: I287T
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
24 |
46 |
N/A |
INTRINSIC |
|
Mab-21
|
189 |
455 |
7.09e-84 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000166030
AA Change: I287T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000129209
Gene: ENSMUSG00000022412
AA Change: I287T
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
24 |
46 |
N/A |
INTRINSIC |
|
Mab-21
|
189 |
455 |
7.09e-84 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228788
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228965
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000229138
AA Change: I287T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
A |
G |
15: 81,947,764 (GRCm39) |
K554E |
possibly damaging |
Het |
| Acsf2 |
T |
C |
11: 94,449,156 (GRCm39) |
M609V |
probably benign |
Het |
| Acsm3 |
A |
G |
7: 119,367,256 (GRCm39) |
T30A |
probably benign |
Het |
| Adam32 |
T |
C |
8: 25,353,445 (GRCm39) |
K715E |
possibly damaging |
Het |
| Cdk5r1 |
T |
C |
11: 80,369,068 (GRCm39) |
L245P |
probably damaging |
Het |
| Cntn3 |
A |
G |
6: 102,147,579 (GRCm39) |
V926A |
probably damaging |
Het |
| Csf2rb |
G |
A |
15: 78,229,752 (GRCm39) |
D440N |
probably damaging |
Het |
| D3Ertd751e |
T |
A |
3: 41,708,278 (GRCm39) |
H138Q |
probably damaging |
Het |
| D630003M21Rik |
A |
G |
2: 158,062,415 (GRCm39) |
L35P |
probably damaging |
Het |
| Faap100 |
A |
T |
11: 120,265,406 (GRCm39) |
V490E |
probably damaging |
Het |
| Il3ra |
A |
G |
14: 14,348,903 (GRCm38) |
D99G |
probably benign |
Het |
| Kcnmb1 |
A |
G |
11: 33,914,711 (GRCm39) |
K4R |
probably damaging |
Het |
| Larp1 |
T |
A |
11: 57,940,657 (GRCm39) |
D594E |
probably benign |
Het |
| Lnpep |
G |
T |
17: 17,783,071 (GRCm39) |
H577N |
probably benign |
Het |
| Mras |
T |
C |
9: 99,293,560 (GRCm39) |
S27G |
probably damaging |
Het |
| Myh7b |
T |
A |
2: 155,470,680 (GRCm39) |
C1043S |
probably benign |
Het |
| N4bp1 |
T |
C |
8: 87,588,596 (GRCm39) |
D114G |
probably damaging |
Het |
| Nsmce4a |
A |
T |
7: 130,140,829 (GRCm39) |
I219K |
probably damaging |
Het |
| Nynrin |
A |
T |
14: 56,105,533 (GRCm39) |
I848F |
probably benign |
Het |
| Or2p2 |
T |
C |
13: 21,256,775 (GRCm39) |
E232G |
probably benign |
Het |
| Or4f62 |
T |
A |
2: 111,986,542 (GRCm39) |
I82N |
probably damaging |
Het |
| Patj |
T |
A |
4: 98,293,855 (GRCm39) |
S36T |
probably benign |
Het |
| Pcdhb15 |
G |
A |
18: 37,608,414 (GRCm39) |
V549M |
probably damaging |
Het |
| Prl2c5 |
T |
C |
13: 13,357,631 (GRCm39) |
|
probably null |
Het |
| Ptbp3 |
A |
T |
4: 59,482,624 (GRCm39) |
D386E |
probably damaging |
Het |
| Ptpra |
T |
C |
2: 130,382,512 (GRCm39) |
L451P |
probably damaging |
Het |
| Repin1 |
A |
G |
6: 48,574,562 (GRCm39) |
D497G |
probably damaging |
Het |
| Ryr2 |
A |
G |
13: 11,776,282 (GRCm39) |
F1085S |
probably damaging |
Het |
| Slc6a18 |
G |
A |
13: 73,826,044 (GRCm39) |
A2V |
possibly damaging |
Het |
| Wee2 |
C |
T |
6: 40,432,039 (GRCm39) |
R203C |
probably damaging |
Het |
| Zmynd15 |
T |
C |
11: 70,355,257 (GRCm39) |
V388A |
probably damaging |
Het |
|
| Other mutations in Mief1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01897:Mief1
|
APN |
15 |
80,132,709 (GRCm39) |
splice site |
probably benign |
|
|
R1754:Mief1
|
UTSW |
15 |
80,133,803 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2010:Mief1
|
UTSW |
15 |
80,132,126 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4379:Mief1
|
UTSW |
15 |
80,132,160 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4609:Mief1
|
UTSW |
15 |
80,132,454 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4789:Mief1
|
UTSW |
15 |
80,132,080 (GRCm39) |
nonsense |
probably null |
|
|
R5862:Mief1
|
UTSW |
15 |
80,132,586 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6101:Mief1
|
UTSW |
15 |
80,133,941 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6605:Mief1
|
UTSW |
15 |
80,132,692 (GRCm39) |
nonsense |
probably null |
|
|
R6944:Mief1
|
UTSW |
15 |
80,133,644 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7197:Mief1
|
UTSW |
15 |
80,134,061 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7316:Mief1
|
UTSW |
15 |
80,133,598 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7905:Mief1
|
UTSW |
15 |
80,133,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8494:Mief1
|
UTSW |
15 |
80,133,593 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8717:Mief1
|
UTSW |
15 |
80,132,584 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCTGGTTCGTCGTGAGAAC -3'
(R):5'- CCTTGAGGATCTTGAGGCAAAG -3'
Sequencing Primer
(F):5'- GTCGTGAGAACCCAGAGTACTTTC -3'
(R):5'- TGGTCCAAAGCCCGTAAGC -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation