Incidental Mutation 'R6511:Mtif2'
ID |
519922 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mtif2
|
Ensembl Gene |
ENSMUSG00000020459 |
Gene Name |
mitochondrial translational initiation factor 2 |
Synonyms |
2310038D14Rik, IF-2mt, 2410112O06Rik |
MMRRC Submission |
044639-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.963)
|
Stock # |
R6511 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
29476408-29495279 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 29486949 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Serine
at position 320
(A320S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000090926
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020749]
[ENSMUST00000093239]
[ENSMUST00000133452]
[ENSMUST00000136351]
[ENSMUST00000144321]
|
AlphaFold |
Q91YJ5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020749
AA Change: A320S
PolyPhen 2
Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000020749 Gene: ENSMUSG00000020459 AA Change: A320S
Domain | Start | End | E-Value | Type |
Pfam:SRPRB
|
178 |
310 |
2.1e-6 |
PFAM |
Pfam:GTP_EFTU
|
179 |
344 |
8.9e-34 |
PFAM |
Pfam:MMR_HSR1
|
182 |
289 |
6.9e-10 |
PFAM |
coiled coil region
|
449 |
484 |
N/A |
INTRINSIC |
Pfam:IF-2
|
504 |
607 |
6.5e-33 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000093239
AA Change: A320S
PolyPhen 2
Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000090926 Gene: ENSMUSG00000020459 AA Change: A320S
Domain | Start | End | E-Value | Type |
Pfam:SRPRB
|
178 |
310 |
2.1e-6 |
PFAM |
Pfam:GTP_EFTU
|
179 |
344 |
8.9e-34 |
PFAM |
Pfam:MMR_HSR1
|
182 |
289 |
6.9e-10 |
PFAM |
coiled coil region
|
449 |
484 |
N/A |
INTRINSIC |
Pfam:IF-2
|
504 |
607 |
6.5e-33 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129893
|
Predicted Effect |
unknown
Transcript: ENSMUST00000132783
AA Change: A129S
|
SMART Domains |
Protein: ENSMUSP00000121327 Gene: ENSMUSG00000020459 AA Change: A129S
Domain | Start | End | E-Value | Type |
PDB:3IZY|P
|
47 |
247 |
8e-92 |
PDB |
SCOP:d1g7sa1
|
163 |
244 |
2e-23 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000133452
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000136351
|
SMART Domains |
Protein: ENSMUSP00000122801 Gene: ENSMUSG00000020459
Domain | Start | End | E-Value | Type |
SCOP:d1f5na2
|
157 |
196 |
1e-4 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000144321
AA Change: A320S
PolyPhen 2
Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000114299 Gene: ENSMUSG00000020459 AA Change: A320S
Domain | Start | End | E-Value | Type |
Pfam:Arf
|
175 |
341 |
1.1e-5 |
PFAM |
Pfam:SRPRB
|
178 |
310 |
1.5e-6 |
PFAM |
Pfam:GTP_EFTU
|
178 |
344 |
3.8e-39 |
PFAM |
Pfam:MMR_HSR1
|
182 |
289 |
1.1e-8 |
PFAM |
Pfam:Miro
|
182 |
291 |
1.2e-9 |
PFAM |
|
Meta Mutation Damage Score |
0.1664 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.5%
|
Validation Efficiency |
100% (39/39) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] During the initiation of protein biosynthesis, initiation factor-2 (IF-2) promotes the binding of the initiator tRNA to the small subunit of the ribosome in a GTP-dependent manner. Prokaryotic IF-2 is a single polypeptide, while eukaryotic cytoplasmic IF-2 (eIF-2) is a trimeric protein. Bovine liver mitochondria contain IF-2(mt), an 85-kD monomeric protein that is equivalent to prokaryotic IF-2. The predicted 727-amino acid human protein contains a 29-amino acid presequence. Human IF-2(mt) shares 32 to 38% amino acid sequence identity with yeast IF-2(mt) and several prokaryotic IF-2s, with the greatest degree of conservation in the G domains of the proteins. [provided by RefSeq, Mar 2016]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc5 |
G |
A |
16: 20,195,344 (GRCm39) |
H718Y |
probably damaging |
Het |
Abcc8 |
G |
A |
7: 45,800,285 (GRCm39) |
T499I |
possibly damaging |
Het |
Azin2 |
C |
A |
4: 128,828,259 (GRCm39) |
R316L |
probably damaging |
Het |
Cep85l |
C |
T |
10: 53,154,188 (GRCm39) |
V702I |
probably benign |
Het |
Cfap69 |
A |
T |
5: 5,667,220 (GRCm39) |
C442S |
probably damaging |
Het |
Commd3 |
G |
A |
2: 18,679,650 (GRCm39) |
G148R |
probably benign |
Het |
Cyfip2 |
T |
C |
11: 46,087,135 (GRCm39) |
T1252A |
probably benign |
Het |
Cyp4a30b |
A |
T |
4: 115,313,905 (GRCm39) |
D162V |
probably damaging |
Het |
Exoc3l |
G |
T |
8: 106,019,887 (GRCm39) |
T346K |
probably benign |
Het |
Gas8 |
T |
C |
8: 124,250,896 (GRCm39) |
V123A |
probably benign |
Het |
Hmcn2 |
T |
G |
2: 31,246,354 (GRCm39) |
D774E |
possibly damaging |
Het |
Itga1 |
G |
T |
13: 115,129,037 (GRCm39) |
S540R |
probably damaging |
Het |
Itpr2 |
T |
C |
6: 146,231,225 (GRCm39) |
N1145S |
probably damaging |
Het |
Kcnc2 |
C |
T |
10: 112,297,972 (GRCm39) |
|
probably benign |
Het |
Lrp5 |
G |
A |
19: 3,702,296 (GRCm39) |
R174W |
probably damaging |
Het |
Lrrn4 |
T |
G |
2: 132,712,246 (GRCm39) |
S526R |
probably benign |
Het |
Map3k6 |
G |
A |
4: 132,975,389 (GRCm39) |
R708H |
probably damaging |
Het |
Mefv |
T |
C |
16: 3,533,810 (GRCm39) |
T154A |
probably benign |
Het |
Mrtfb |
T |
A |
16: 13,197,714 (GRCm39) |
S66R |
probably damaging |
Het |
Nos2 |
A |
G |
11: 78,846,290 (GRCm39) |
|
probably null |
Het |
Or4k15b |
A |
G |
14: 50,272,266 (GRCm39) |
L198P |
probably damaging |
Het |
Or9g4 |
A |
G |
2: 85,505,184 (GRCm39) |
S104P |
possibly damaging |
Het |
Pip5k1c |
T |
C |
10: 81,146,651 (GRCm39) |
Y44H |
probably damaging |
Het |
Ppp1r13b |
T |
C |
12: 111,798,001 (GRCm39) |
E972G |
probably damaging |
Het |
Prdm12 |
T |
C |
2: 31,530,321 (GRCm39) |
S71P |
probably damaging |
Het |
Prkag2 |
G |
T |
5: 25,305,286 (GRCm39) |
|
probably benign |
Het |
Ptprb |
T |
C |
10: 116,182,725 (GRCm39) |
L1467P |
probably damaging |
Het |
Rnf43 |
G |
A |
11: 87,622,989 (GRCm39) |
V697I |
probably benign |
Het |
Rpl7 |
C |
A |
1: 16,173,889 (GRCm39) |
A12S |
probably benign |
Het |
Slc25a54 |
T |
G |
3: 109,001,572 (GRCm39) |
I120S |
possibly damaging |
Het |
Slc41a2 |
T |
C |
10: 83,119,652 (GRCm39) |
H370R |
probably damaging |
Het |
Speer1d |
A |
G |
5: 11,307,275 (GRCm39) |
Y51C |
probably benign |
Het |
Sv2c |
C |
T |
13: 96,185,033 (GRCm39) |
V215I |
probably benign |
Het |
Synpo2l |
T |
C |
14: 20,712,518 (GRCm39) |
E34G |
probably damaging |
Het |
Tubgcp5 |
T |
A |
7: 55,467,140 (GRCm39) |
C703* |
probably null |
Het |
Vmn1r158 |
T |
C |
7: 22,490,116 (GRCm39) |
K31R |
probably benign |
Het |
Vmn2r106 |
C |
T |
17: 20,488,725 (GRCm39) |
C558Y |
probably damaging |
Het |
Zfp2 |
A |
T |
11: 50,791,234 (GRCm39) |
C270S |
probably damaging |
Het |
|
Other mutations in Mtif2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00942:Mtif2
|
APN |
11 |
29,488,753 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01020:Mtif2
|
APN |
11 |
29,494,973 (GRCm39) |
missense |
possibly damaging |
0.61 |
IGL01323:Mtif2
|
APN |
11 |
29,491,447 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01360:Mtif2
|
APN |
11 |
29,480,110 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01744:Mtif2
|
APN |
11 |
29,494,417 (GRCm39) |
unclassified |
probably benign |
|
IGL01757:Mtif2
|
APN |
11 |
29,491,337 (GRCm39) |
unclassified |
probably benign |
|
IGL02247:Mtif2
|
APN |
11 |
29,490,642 (GRCm39) |
missense |
possibly damaging |
0.65 |
IGL02642:Mtif2
|
APN |
11 |
29,494,395 (GRCm39) |
missense |
probably benign |
|
IGL03093:Mtif2
|
APN |
11 |
29,480,702 (GRCm39) |
splice site |
probably benign |
|
R0418:Mtif2
|
UTSW |
11 |
29,483,401 (GRCm39) |
splice site |
probably benign |
|
R0554:Mtif2
|
UTSW |
11 |
29,483,398 (GRCm39) |
critical splice donor site |
probably null |
|
R0577:Mtif2
|
UTSW |
11 |
29,490,862 (GRCm39) |
critical splice donor site |
probably null |
|
R1159:Mtif2
|
UTSW |
11 |
29,490,729 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1168:Mtif2
|
UTSW |
11 |
29,486,914 (GRCm39) |
missense |
probably benign |
0.11 |
R1344:Mtif2
|
UTSW |
11 |
29,495,002 (GRCm39) |
missense |
probably benign |
|
R1418:Mtif2
|
UTSW |
11 |
29,495,002 (GRCm39) |
missense |
probably benign |
|
R1482:Mtif2
|
UTSW |
11 |
29,486,847 (GRCm39) |
missense |
probably damaging |
1.00 |
R1657:Mtif2
|
UTSW |
11 |
29,490,721 (GRCm39) |
missense |
probably benign |
0.00 |
R1850:Mtif2
|
UTSW |
11 |
29,490,683 (GRCm39) |
missense |
probably benign |
0.03 |
R3692:Mtif2
|
UTSW |
11 |
29,490,718 (GRCm39) |
missense |
probably benign |
0.03 |
R4471:Mtif2
|
UTSW |
11 |
29,490,053 (GRCm39) |
splice site |
probably benign |
|
R4730:Mtif2
|
UTSW |
11 |
29,490,834 (GRCm39) |
missense |
probably benign |
0.00 |
R5248:Mtif2
|
UTSW |
11 |
29,486,889 (GRCm39) |
missense |
probably damaging |
1.00 |
R5343:Mtif2
|
UTSW |
11 |
29,486,964 (GRCm39) |
missense |
probably damaging |
1.00 |
R5989:Mtif2
|
UTSW |
11 |
29,480,098 (GRCm39) |
missense |
probably damaging |
0.96 |
R7209:Mtif2
|
UTSW |
11 |
29,479,996 (GRCm39) |
missense |
probably benign |
0.00 |
R7318:Mtif2
|
UTSW |
11 |
29,490,115 (GRCm39) |
missense |
probably benign |
0.25 |
R9120:Mtif2
|
UTSW |
11 |
29,483,951 (GRCm39) |
missense |
probably benign |
0.00 |
R9224:Mtif2
|
UTSW |
11 |
29,494,364 (GRCm39) |
missense |
probably benign |
0.09 |
R9256:Mtif2
|
UTSW |
11 |
29,490,777 (GRCm39) |
missense |
probably benign |
0.00 |
R9266:Mtif2
|
UTSW |
11 |
29,480,065 (GRCm39) |
missense |
probably benign |
0.00 |
R9745:Mtif2
|
UTSW |
11 |
29,476,587 (GRCm39) |
start gained |
probably benign |
|
X0064:Mtif2
|
UTSW |
11 |
29,488,760 (GRCm39) |
missense |
probably benign |
0.07 |
|
Predicted Primers |
PCR Primer
(F):5'- CAGATTGGTATTTCTCACAGCG -3'
(R):5'- AGGTGGAACATAGCTTTAATTCCAGC -3'
Sequencing Primer
(F):5'- CTCACAGCGAATGTCTGGAATTG -3'
(R):5'- GAACATAGCTTTAATTCCAGCACTTG -3'
|
Posted On |
2018-06-06 |