Incidental Mutation 'IGL03093:Mtif2'
ID |
418476 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Mtif2
|
Ensembl Gene |
ENSMUSG00000020459 |
Gene Name |
mitochondrial translational initiation factor 2 |
Synonyms |
2310038D14Rik, IF-2mt, 2410112O06Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.963)
|
Stock # |
IGL03093
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
29476408-29495279 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 29480702 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114299
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020749]
[ENSMUST00000093239]
[ENSMUST00000133452]
[ENSMUST00000136351]
[ENSMUST00000144321]
|
AlphaFold |
Q91YJ5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000020749
|
SMART Domains |
Protein: ENSMUSP00000020749 Gene: ENSMUSG00000020459
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 |
probably benign
Transcript: ENSMUST00000093239
|
SMART Domains |
Protein: ENSMUSP00000090926 Gene: ENSMUSG00000020459
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 |
probably benign
Transcript: ENSMUST00000132783
|
SMART Domains |
Protein: ENSMUSP00000121327 Gene: ENSMUSG00000020459
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 |
probably benign
Transcript: ENSMUST00000144321
|
SMART Domains |
Protein: ENSMUSP00000114299 Gene: ENSMUSG00000020459
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156352
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Add3 |
A |
G |
19: 53,219,638 (GRCm39) |
D121G |
probably damaging |
Het |
Cacna1s |
A |
G |
1: 136,043,802 (GRCm39) |
D1380G |
probably benign |
Het |
Clca3a1 |
T |
C |
3: 144,453,262 (GRCm39) |
Y487C |
probably damaging |
Het |
Coro2a |
A |
G |
4: 46,544,158 (GRCm39) |
S278P |
possibly damaging |
Het |
Creb3l3 |
A |
G |
10: 80,927,047 (GRCm39) |
S128P |
probably benign |
Het |
Dab2 |
A |
G |
15: 6,465,892 (GRCm39) |
R697G |
probably damaging |
Het |
Erap1 |
T |
C |
13: 74,823,399 (GRCm39) |
F811S |
probably benign |
Het |
Fam170b |
A |
G |
14: 32,557,482 (GRCm39) |
S106G |
probably damaging |
Het |
Galk2 |
T |
C |
2: 125,771,563 (GRCm39) |
L196P |
probably damaging |
Het |
Gan |
T |
C |
8: 117,910,314 (GRCm39) |
M81T |
probably benign |
Het |
Gemin2 |
A |
G |
12: 59,068,511 (GRCm39) |
T197A |
probably benign |
Het |
Hemgn |
A |
T |
4: 46,396,504 (GRCm39) |
M244K |
probably benign |
Het |
Htr6 |
A |
G |
4: 138,789,080 (GRCm39) |
F325S |
probably damaging |
Het |
Igkv9-120 |
A |
G |
6: 68,027,398 (GRCm39) |
D104G |
probably damaging |
Het |
Itpr2 |
A |
C |
6: 146,281,008 (GRCm39) |
I216S |
probably damaging |
Het |
Lingo1 |
T |
C |
9: 56,526,748 (GRCm39) |
I614V |
possibly damaging |
Het |
Mep1b |
C |
T |
18: 21,226,710 (GRCm39) |
T524M |
probably benign |
Het |
Mylk |
G |
A |
16: 34,732,562 (GRCm39) |
R614H |
possibly damaging |
Het |
Or2ag2 |
T |
C |
7: 106,485,410 (GRCm39) |
T205A |
probably benign |
Het |
Or52s19 |
T |
C |
7: 103,007,446 (GRCm39) |
|
probably benign |
Het |
Pabpc4 |
G |
A |
4: 123,180,502 (GRCm39) |
D75N |
probably damaging |
Het |
Paics |
T |
A |
5: 77,109,355 (GRCm39) |
|
probably null |
Het |
Prl |
T |
A |
13: 27,248,870 (GRCm39) |
I172N |
probably benign |
Het |
Ripk2 |
A |
G |
4: 16,152,056 (GRCm39) |
S168P |
probably damaging |
Het |
Siglecf |
T |
C |
7: 43,001,865 (GRCm39) |
V225A |
probably damaging |
Het |
Slc36a1 |
A |
G |
11: 55,110,430 (GRCm39) |
I86V |
probably benign |
Het |
Slc6a13 |
A |
G |
6: 121,309,407 (GRCm39) |
Y306C |
probably damaging |
Het |
Soat2 |
T |
A |
15: 102,066,078 (GRCm39) |
L250Q |
probably damaging |
Het |
Tex38 |
A |
G |
4: 115,637,762 (GRCm39) |
S14P |
probably damaging |
Het |
Tm2d1 |
A |
T |
4: 98,268,921 (GRCm39) |
C59S |
possibly damaging |
Het |
Tmco1 |
A |
G |
1: 167,143,848 (GRCm39) |
D82G |
probably damaging |
Het |
Tmem245 |
G |
A |
4: 56,886,019 (GRCm39) |
R866W |
probably damaging |
Het |
Tnip1 |
G |
T |
11: 54,831,652 (GRCm39) |
Y7* |
probably null |
Het |
Trp73 |
A |
G |
4: 154,189,330 (GRCm39) |
M48T |
probably benign |
Het |
Tslp |
T |
C |
18: 32,948,612 (GRCm39) |
|
probably benign |
Het |
Usp47 |
T |
C |
7: 111,688,827 (GRCm39) |
F745L |
probably damaging |
Het |
Vmn2r53 |
T |
A |
7: 12,334,791 (GRCm39) |
T290S |
probably benign |
Het |
Wdr1 |
T |
C |
5: 38,718,472 (GRCm39) |
D30G |
probably benign |
Het |
Zkscan2 |
T |
C |
7: 123,094,073 (GRCm39) |
Y247C |
probably benign |
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 |
|
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 |
R6511:Mtif2
|
UTSW |
11 |
29,486,949 (GRCm39) |
missense |
possibly damaging |
0.81 |
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 |
|
Posted On |
2016-08-02 |