Incidental Mutation 'R2241:Mterf2'
| ID |
240668 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mterf2
|
| Ensembl Gene |
ENSMUSG00000049038 |
| Gene Name |
mitochondrial transcription termination factor 2 |
| Synonyms |
Mterfd3, 1700007D05Rik |
| MMRRC Submission |
040241-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.094)
|
| Stock # |
R2241 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
84955297-84963891 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 84956180 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 148
(N148S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000062762
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050813]
[ENSMUST00000095383]
[ENSMUST00000214193]
[ENSMUST00000214607]
[ENSMUST00000216771]
[ENSMUST00000217027]
|
| AlphaFold |
Q8BKY8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000050813
AA Change: N148S
PolyPhen 2
Score 0.567 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000062762
Gene: ENSMUSG00000049038
AA Change: N148S
| 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
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
|
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy8 |
G |
T |
15: 64,571,230 (GRCm39) |
L1138I |
possibly damaging |
Het |
| Aftph |
T |
C |
11: 20,676,328 (GRCm39) |
D427G |
possibly damaging |
Het |
| Cep350 |
C |
T |
1: 155,834,302 (GRCm39) |
|
probably null |
Het |
| Clca4b |
A |
T |
3: 144,616,987 (GRCm39) |
S888T |
probably benign |
Het |
| Cyb5b |
A |
G |
8: 107,897,045 (GRCm39) |
D105G |
probably benign |
Het |
| Ddx20 |
A |
C |
3: 105,590,521 (GRCm39) |
Y258* |
probably null |
Het |
| Farp2 |
C |
T |
1: 93,507,625 (GRCm39) |
T441I |
probably benign |
Het |
| Fzd6 |
G |
T |
15: 38,894,931 (GRCm39) |
A366S |
probably damaging |
Het |
| Gpr149 |
A |
G |
3: 62,511,474 (GRCm39) |
V175A |
probably benign |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Itga4 |
T |
A |
2: 79,131,357 (GRCm39) |
I575N |
probably damaging |
Het |
| Kcnj14 |
C |
T |
7: 45,469,325 (GRCm39) |
R60H |
probably benign |
Het |
| Lrch3 |
A |
G |
16: 32,816,211 (GRCm39) |
T151A |
probably damaging |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Nae1 |
A |
C |
8: 105,246,420 (GRCm39) |
D268E |
probably benign |
Het |
| Or5p5 |
T |
C |
7: 107,414,040 (GRCm39) |
V83A |
possibly damaging |
Het |
| Or6c211 |
G |
A |
10: 129,505,764 (GRCm39) |
T208I |
probably damaging |
Het |
| Or8b48 |
A |
G |
9: 38,493,101 (GRCm39) |
H176R |
probably damaging |
Het |
| Pcnx4 |
T |
C |
12: 72,620,928 (GRCm39) |
L916P |
probably damaging |
Het |
| Prune2 |
T |
A |
19: 17,100,456 (GRCm39) |
Y1987N |
probably damaging |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
A |
G |
2: 112,631,737 (GRCm39) |
L2096P |
probably damaging |
Het |
| Serpina3m |
G |
A |
12: 104,355,708 (GRCm39) |
S125N |
probably benign |
Het |
| Tep1 |
G |
C |
14: 51,091,667 (GRCm39) |
R625G |
probably benign |
Het |
| Vmn2r102 |
T |
C |
17: 19,897,003 (GRCm39) |
Y117H |
probably benign |
Het |
| Wdfy4 |
A |
T |
14: 32,795,468 (GRCm39) |
N2091K |
possibly damaging |
Het |
| Yme1l1 |
C |
T |
2: 23,086,912 (GRCm39) |
R673* |
probably null |
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 |
|
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 |
|
R6586:Mterf2
|
UTSW |
10 |
84,955,970 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- CTTTAGCATTGGCCTCAGATCC -3'
(R):5'- AGAAACCTACGTTGAAGAGATTGC -3'
Sequencing Primer
(F):5'- GGCCTCAGATCCACCTAAGTTTAG -3'
(R):5'- GGTGCCAATAAAACTGTGATTGCC -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation