Incidental Mutation 'IGL01757:Mtif2'
ID |
153226 |
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 # |
IGL01757
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
29476408-29495279 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
G to A
at 29491337 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114299
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020749]
[ENSMUST00000093239]
[ENSMUST00000102844]
[ENSMUST00000102845]
[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: ENSMUST00000102844
|
SMART Domains |
Protein: ENSMUSP00000099908 Gene: ENSMUSG00000020460
Domain | Start | End | E-Value | Type |
UBQ
|
1 |
72 |
2.14e-36 |
SMART |
Pfam:Ribosomal_S27
|
101 |
147 |
9.1e-30 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000102845
|
SMART Domains |
Protein: ENSMUSP00000099909 Gene: ENSMUSG00000020460
Domain | Start | End | E-Value | Type |
UBQ
|
1 |
72 |
2.14e-36 |
SMART |
Pfam:Ribosomal_S27
|
102 |
147 |
1.4e-29 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129893
|
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: 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: ENSMUST00000147782
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150739
|
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: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc6 |
T |
C |
7: 45,639,705 (GRCm39) |
|
probably benign |
Het |
Adamts9 |
T |
C |
6: 92,773,140 (GRCm39) |
Y1789C |
probably damaging |
Het |
Cdcp1 |
A |
T |
9: 123,009,066 (GRCm39) |
Y537* |
probably null |
Het |
Chic2 |
T |
C |
5: 75,167,428 (GRCm39) |
|
probably benign |
Het |
Cpa5 |
G |
A |
6: 30,625,926 (GRCm39) |
|
probably benign |
Het |
Csgalnact2 |
T |
C |
6: 118,106,307 (GRCm39) |
R4G |
probably damaging |
Het |
Dnah10 |
T |
A |
5: 124,845,991 (GRCm39) |
V1510D |
probably benign |
Het |
Dnm2 |
T |
A |
9: 21,376,915 (GRCm39) |
F91L |
probably damaging |
Het |
Eif2b1 |
T |
C |
5: 124,711,203 (GRCm39) |
K189E |
probably benign |
Het |
Fgf17 |
A |
T |
14: 70,874,420 (GRCm39) |
L123Q |
probably damaging |
Het |
Ifna15 |
T |
C |
4: 88,476,322 (GRCm39) |
K54R |
possibly damaging |
Het |
Isg15 |
A |
G |
4: 156,284,301 (GRCm39) |
C76R |
probably damaging |
Het |
Ldb2 |
A |
T |
5: 44,699,209 (GRCm39) |
|
probably benign |
Het |
Lig4 |
A |
G |
8: 10,021,185 (GRCm39) |
I865T |
probably benign |
Het |
Lrrc46 |
T |
C |
11: 96,926,701 (GRCm39) |
Y154C |
probably damaging |
Het |
Lrrc8a |
G |
A |
2: 30,145,537 (GRCm39) |
R117H |
possibly damaging |
Het |
Mrpl2 |
A |
G |
17: 46,959,183 (GRCm39) |
I96V |
probably damaging |
Het |
Or2n1 |
G |
T |
17: 38,486,577 (GRCm39) |
V201L |
probably benign |
Het |
Ptpn23 |
G |
A |
9: 110,220,704 (GRCm39) |
R269W |
probably damaging |
Het |
Senp2 |
T |
C |
16: 21,828,414 (GRCm39) |
V8A |
probably benign |
Het |
Slf1 |
T |
C |
13: 77,232,559 (GRCm39) |
D515G |
probably benign |
Het |
Spc25 |
G |
A |
2: 69,032,952 (GRCm39) |
Q58* |
probably null |
Het |
Sult2a5 |
T |
C |
7: 13,399,079 (GRCm39) |
S229P |
probably damaging |
Het |
Tfap2d |
A |
G |
1: 19,174,804 (GRCm39) |
T86A |
probably benign |
Het |
Trp53bp1 |
A |
G |
2: 121,041,785 (GRCm39) |
V1257A |
probably damaging |
Het |
Wdr6 |
A |
G |
9: 108,453,427 (GRCm39) |
V152A |
possibly damaging |
Het |
Zdhhc7 |
A |
G |
8: 120,814,662 (GRCm39) |
V49A |
probably benign |
Het |
Zfp648 |
T |
C |
1: 154,080,671 (GRCm39) |
S277P |
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 |
|
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 |
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 |
2014-02-04 |