Incidental Mutation 'R6586:Mterf2'
| ID |
524426 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mterf2
|
| Ensembl Gene |
ENSMUSG00000049038 |
| Gene Name |
mitochondrial transcription termination factor 2 |
| Synonyms |
Mterfd3, 1700007D05Rik |
| MMRRC Submission |
044710-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.097)
|
| Stock # |
R6586 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
84955297-84963891 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 84955970 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 218
(F218S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000062762
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050813]
[ENSMUST00000095383]
[ENSMUST00000214193]
[ENSMUST00000214607]
[ENSMUST00000216771]
[ENSMUST00000217027]
|
| AlphaFold |
Q8BKY8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000050813
AA Change: F218S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000062762
Gene: ENSMUSG00000049038
AA Change: F218S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
25 |
N/A |
INTRINSIC |
|
Blast:Mterf
|
60 |
90 |
2e-7 |
BLAST |
|
Blast:Mterf
|
95 |
126 |
1e-10 |
BLAST |
|
Mterf
|
130 |
162 |
5.31e2 |
SMART |
|
Blast:Mterf
|
167 |
197 |
8e-10 |
BLAST |
|
Mterf
|
210 |
240 |
2.12e2 |
SMART |
|
Mterf
|
282 |
312 |
8.02e-2 |
SMART |
|
Mterf
|
313 |
343 |
1.02e3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000095383
|
| SMART Domains |
Protein: ENSMUSP00000093030
Gene: ENSMUSG00000060935
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UPF0444
|
24 |
114 |
1.7e-48 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214193
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214607
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216771
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217027
|
| Meta Mutation Damage Score |
0.8211 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.5%
|
| Validation Efficiency |
100% (40/40) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a gene-trapped allele gain less weight than wild-type controls, develop a myopathy, and show memory deficits, decreased levels of mitochondrial transcripts, an imbalanced tRNA pool, impaired oxidative phosphorylation, reduced respiratory function, and enlarged mitochondrial mass. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700013G24Rik |
T |
C |
4: 137,182,639 (GRCm39) |
F265L |
possibly damaging |
Het |
| 9930022D16Rik |
A |
G |
11: 109,308,786 (GRCm39) |
T51A |
unknown |
Het |
| Acaa1a |
A |
G |
9: 119,178,604 (GRCm39) |
|
probably null |
Het |
| Clasp2 |
T |
C |
9: 113,642,332 (GRCm39) |
S280P |
probably damaging |
Het |
| Cnga3 |
T |
C |
1: 37,300,359 (GRCm39) |
S398P |
probably damaging |
Het |
| Cngb3 |
T |
G |
4: 19,280,946 (GRCm39) |
L5R |
probably damaging |
Het |
| Cyp2c65 |
T |
C |
19: 39,070,662 (GRCm39) |
F282L |
possibly damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
| Dnm2 |
T |
C |
9: 21,416,942 (GRCm39) |
F825S |
probably benign |
Het |
| Egfem1 |
T |
A |
3: 29,716,560 (GRCm39) |
C343* |
probably null |
Het |
| Fah |
T |
A |
7: 84,242,468 (GRCm39) |
D280V |
probably benign |
Het |
| Fiz1 |
C |
T |
7: 5,011,400 (GRCm39) |
A373T |
possibly damaging |
Het |
| Flg |
A |
T |
3: 93,200,290 (GRCm39) |
|
probably benign |
Het |
| Flnb |
A |
G |
14: 7,929,138 (GRCm38) |
R1956G |
possibly damaging |
Het |
| Nlrp1a |
A |
G |
11: 70,996,899 (GRCm39) |
V868A |
probably benign |
Het |
| Nrip2 |
T |
A |
6: 128,381,911 (GRCm39) |
C85* |
probably null |
Het |
| Ogfrl1 |
T |
G |
1: 23,408,944 (GRCm39) |
K427N |
probably benign |
Het |
| Or1o1 |
G |
A |
17: 37,716,796 (GRCm39) |
R119H |
probably benign |
Het |
| Or51v14 |
T |
A |
7: 103,261,183 (GRCm39) |
I126F |
possibly damaging |
Het |
| Palm |
A |
C |
10: 79,645,365 (GRCm39) |
N111H |
probably benign |
Het |
| Pipox |
T |
C |
11: 77,772,005 (GRCm39) |
D373G |
possibly damaging |
Het |
| Plec |
C |
T |
15: 76,059,287 (GRCm39) |
G3540D |
probably damaging |
Het |
| Psd3 |
T |
C |
8: 68,416,197 (GRCm39) |
T567A |
probably damaging |
Het |
| Psg28 |
T |
C |
7: 18,164,469 (GRCm39) |
Y81C |
probably damaging |
Het |
| Rarres1 |
A |
T |
3: 67,398,366 (GRCm39) |
N131K |
probably damaging |
Het |
| Rbbp8nl |
G |
A |
2: 179,922,752 (GRCm39) |
H214Y |
probably damaging |
Het |
| Styxl2 |
T |
C |
1: 165,928,454 (GRCm39) |
E386G |
possibly damaging |
Het |
| Tas2r135 |
A |
G |
6: 42,382,952 (GRCm39) |
T164A |
probably benign |
Het |
| Tmco3 |
G |
T |
8: 13,370,894 (GRCm39) |
|
probably benign |
Het |
| Tnpo2 |
T |
A |
8: 85,771,831 (GRCm39) |
M259K |
possibly damaging |
Het |
| Tns4 |
T |
C |
11: 98,971,093 (GRCm39) |
R206G |
probably benign |
Het |
| Trim60 |
G |
T |
8: 65,453,248 (GRCm39) |
L334I |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,560,754 (GRCm39) |
T29216A |
probably damaging |
Het |
| Urb2 |
G |
T |
8: 124,757,864 (GRCm39) |
E1190D |
probably damaging |
Het |
| Vmn1r60 |
T |
A |
7: 5,547,446 (GRCm39) |
N218I |
probably benign |
Het |
| Vps25 |
T |
G |
11: 101,149,835 (GRCm39) |
V125G |
probably damaging |
Het |
| Ythdc2 |
A |
G |
18: 44,978,855 (GRCm39) |
D455G |
probably benign |
Het |
| Ythdf2 |
A |
T |
4: 131,932,911 (GRCm39) |
M83K |
probably benign |
Het |
|
| Other mutations in Mterf2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01097:Mterf2
|
APN |
10 |
84,955,677 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02553:Mterf2
|
APN |
10 |
84,956,331 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02851:Mterf2
|
APN |
10 |
84,955,878 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02861:Mterf2
|
APN |
10 |
84,956,195 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03111:Mterf2
|
APN |
10 |
84,955,786 (GRCm39) |
nonsense |
probably null |
|
|
IGL03169:Mterf2
|
APN |
10 |
84,956,324 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0941:Mterf2
|
UTSW |
10 |
84,955,934 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R2241:Mterf2
|
UTSW |
10 |
84,956,180 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R3825:Mterf2
|
UTSW |
10 |
84,956,147 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4964:Mterf2
|
UTSW |
10 |
84,955,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5015:Mterf2
|
UTSW |
10 |
84,955,596 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7032:Mterf2
|
UTSW |
10 |
84,956,527 (GRCm39) |
nonsense |
probably null |
|
|
R7405:Mterf2
|
UTSW |
10 |
84,956,360 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7705:Mterf2
|
UTSW |
10 |
84,956,381 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8079:Mterf2
|
UTSW |
10 |
84,956,027 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9375:Mterf2
|
UTSW |
10 |
84,956,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9626:Mterf2
|
UTSW |
10 |
84,956,295 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCATTTCACAACTAACTGTCG -3'
(R):5'- TTTCAAGAGCTGGGACTCAG -3'
Sequencing Primer
(F):5'- ACTGTCGTAGGTCATAGTCTGTACAC -3'
(R):5'- TTTCAAGAGCTGGGACTCAGAAATG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation