Incidental Mutation 'R6590:Mterf3'
| ID |
524713 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mterf3
|
| Ensembl Gene |
ENSMUSG00000021519 |
| Gene Name |
mitochondrial transcription termination factor 3 |
| Synonyms |
2410017I18Rik, Mterfd1 |
| MMRRC Submission |
044714-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6590 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
67055032-67081152 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 67065110 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 264
(L264F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021991
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021991]
[ENSMUST00000173158]
[ENSMUST00000173407]
[ENSMUST00000173910]
[ENSMUST00000224085]
|
| AlphaFold |
Q8R3J4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021991
AA Change: L264F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000021991
Gene: ENSMUSG00000021519
AA Change: L264F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
97 |
117 |
N/A |
INTRINSIC |
|
Mterf
|
161 |
196 |
1.63e3 |
SMART |
|
Mterf
|
201 |
231 |
7.37e-1 |
SMART |
|
Mterf
|
236 |
267 |
4.68e-3 |
SMART |
|
Mterf
|
272 |
303 |
2.12e-1 |
SMART |
|
Mterf
|
308 |
339 |
4.11e1 |
SMART |
|
Mterf
|
340 |
370 |
9.22e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173158
|
| SMART Domains |
Protein: ENSMUSP00000134032
Gene: ENSMUSG00000021519
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
97 |
108 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173407
|
| SMART Domains |
Protein: ENSMUSP00000133594
Gene: ENSMUSG00000021519
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
97 |
108 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173891
|
| SMART Domains |
Protein: ENSMUSP00000133330
Gene: ENSMUSG00000021519
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:mTERF
|
2 |
67 |
2.2e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173910
|
| SMART Domains |
Protein: ENSMUSP00000133456
Gene: ENSMUSG00000021519
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
41 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174011
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174134
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224085
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223875
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.1%
|
| Validation Efficiency |
100% (28/28) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a null allele exhibit embryonic growth retardation and die by E10.5. [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 |
|---|
| Abcb11 |
C |
T |
2: 69,115,062 (GRCm39) |
G628D |
probably damaging |
Het |
| Ahnak |
G |
T |
19: 8,986,945 (GRCm39) |
G2743V |
probably benign |
Het |
| Akr1c14 |
A |
T |
13: 4,113,713 (GRCm39) |
T82S |
possibly damaging |
Het |
| Ccdc7b |
A |
G |
8: 129,904,700 (GRCm39) |
T113A |
probably benign |
Het |
| Cep152 |
A |
T |
2: 125,406,290 (GRCm39) |
L1414Q |
probably damaging |
Het |
| Chd8 |
T |
C |
14: 52,464,694 (GRCm39) |
E658G |
possibly damaging |
Het |
| Clca3a1 |
G |
C |
3: 144,719,644 (GRCm39) |
A442G |
probably damaging |
Het |
| Coro6 |
A |
G |
11: 77,356,606 (GRCm39) |
T105A |
probably benign |
Het |
| Cux1 |
A |
G |
5: 136,368,971 (GRCm39) |
I232T |
probably damaging |
Het |
| Dmrt1 |
A |
G |
19: 25,523,449 (GRCm39) |
T267A |
probably benign |
Het |
| Fam149a |
G |
T |
8: 45,802,071 (GRCm39) |
A387E |
probably damaging |
Het |
| Fat4 |
G |
A |
3: 39,037,688 (GRCm39) |
G3780D |
probably damaging |
Het |
| Igf2r |
A |
T |
17: 12,910,824 (GRCm39) |
L1998* |
probably null |
Het |
| Iqcf6 |
C |
T |
9: 106,504,501 (GRCm39) |
T55I |
possibly damaging |
Het |
| Or10k2 |
G |
T |
8: 84,267,904 (GRCm39) |
V44L |
probably benign |
Het |
| Or8g32 |
A |
G |
9: 39,305,845 (GRCm39) |
I253V |
probably benign |
Het |
| Pcdhgb7 |
A |
T |
18: 37,886,050 (GRCm39) |
I407F |
probably benign |
Het |
| Pip4k2b |
T |
C |
11: 97,620,393 (GRCm39) |
D114G |
probably damaging |
Het |
| Plbd1 |
G |
T |
6: 136,612,598 (GRCm39) |
N198K |
probably damaging |
Het |
| Prkcb |
T |
C |
7: 121,888,737 (GRCm39) |
I57T |
probably damaging |
Het |
| Ralgapa1 |
C |
T |
12: 55,769,558 (GRCm39) |
|
probably null |
Het |
| Slc26a8 |
A |
G |
17: 28,863,629 (GRCm39) |
I710T |
possibly damaging |
Het |
| Smc2 |
A |
T |
4: 52,449,375 (GRCm39) |
I179L |
probably benign |
Het |
| Tmub2 |
C |
T |
11: 102,178,345 (GRCm39) |
H83Y |
probably damaging |
Het |
| Trip11 |
C |
A |
12: 101,851,710 (GRCm39) |
D785Y |
possibly damaging |
Het |
| Vill |
A |
G |
9: 118,890,975 (GRCm39) |
T194A |
probably benign |
Het |
| Vmn2r59 |
T |
C |
7: 41,695,890 (GRCm39) |
D174G |
probably damaging |
Het |
|
| Other mutations in Mterf3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03106:Mterf3
|
APN |
13 |
67,078,221 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0630:Mterf3
|
UTSW |
13 |
67,060,372 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0636:Mterf3
|
UTSW |
13 |
67,070,817 (GRCm39) |
intron |
probably benign |
|
|
R1403:Mterf3
|
UTSW |
13 |
67,077,944 (GRCm39) |
unclassified |
probably benign |
|
|
R1447:Mterf3
|
UTSW |
13 |
67,065,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1573:Mterf3
|
UTSW |
13 |
67,070,967 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1919:Mterf3
|
UTSW |
13 |
67,078,126 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2327:Mterf3
|
UTSW |
13 |
67,076,258 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5549:Mterf3
|
UTSW |
13 |
67,076,321 (GRCm39) |
missense |
probably benign |
0.32 |
|
R6690:Mterf3
|
UTSW |
13 |
67,065,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7599:Mterf3
|
UTSW |
13 |
67,065,212 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8297:Mterf3
|
UTSW |
13 |
67,055,222 (GRCm39) |
missense |
|
|
|
R8890:Mterf3
|
UTSW |
13 |
67,064,676 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9347:Mterf3
|
UTSW |
13 |
67,062,852 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R9799:Mterf3
|
UTSW |
13 |
67,062,780 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAATGTGATGGAGCATCTTCAG -3'
(R):5'- ACTGCTTTCTGAAGTAACATACCAG -3'
Sequencing Primer
(F):5'- TGGAGCATCTTCAGCCTAAG -3'
(R):5'- CAGTAAGACAGACATTGCA -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation