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, 2410112O06Rik, IF-2mt |
| Accession Numbers |
|
| Is this an essential gene? |
Probably essential
(E-score: 0.967)
|
| Stock # |
IGL01757
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
29526408-29545279 bp(+) (GRCm38) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
G to A
at 29541337 bp (GRCm38)
|
| 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: 45,990,281 |
|
probably benign |
Het |
| Adamts9 |
T |
C |
6: 92,796,159 |
Y1789C |
probably damaging |
Het |
| Cdcp1 |
A |
T |
9: 123,180,001 |
Y537* |
probably null |
Het |
| Chic2 |
T |
C |
5: 75,006,767 |
|
probably benign |
Het |
| Cpa5 |
G |
A |
6: 30,625,927 |
|
probably benign |
Het |
| Csgalnact2 |
T |
C |
6: 118,129,346 |
R4G |
probably damaging |
Het |
| Dnah10 |
T |
A |
5: 124,768,927 |
V1510D |
probably benign |
Het |
| Dnm2 |
T |
A |
9: 21,465,619 |
F91L |
probably damaging |
Het |
| Eif2b1 |
T |
C |
5: 124,573,140 |
K189E |
probably benign |
Het |
| Fgf17 |
A |
T |
14: 70,636,980 |
L123Q |
probably damaging |
Het |
| Ifna15 |
T |
C |
4: 88,558,085 |
K54R |
possibly damaging |
Het |
| Isg15 |
A |
G |
4: 156,199,844 |
C76R |
probably damaging |
Het |
| Ldb2 |
A |
T |
5: 44,541,867 |
|
probably benign |
Het |
| Lig4 |
A |
G |
8: 9,971,185 |
I865T |
probably benign |
Het |
| Lrrc46 |
T |
C |
11: 97,035,875 |
Y154C |
probably damaging |
Het |
| Lrrc8a |
G |
A |
2: 30,255,525 |
R117H |
possibly damaging |
Het |
| Mrpl2 |
A |
G |
17: 46,648,257 |
I96V |
probably damaging |
Het |
| Olfr134 |
G |
T |
17: 38,175,686 |
V201L |
probably benign |
Het |
| Ptpn23 |
G |
A |
9: 110,391,636 |
R269W |
probably damaging |
Het |
| Senp2 |
T |
C |
16: 22,009,664 |
V8A |
probably benign |
Het |
| Slf1 |
T |
C |
13: 77,084,440 |
D515G |
probably benign |
Het |
| Spc25 |
G |
A |
2: 69,202,608 |
Q58* |
probably null |
Het |
| Sult2a5 |
T |
C |
7: 13,665,154 |
S229P |
probably damaging |
Het |
| Tfap2d |
A |
G |
1: 19,104,580 |
T86A |
probably benign |
Het |
| Trp53bp1 |
A |
G |
2: 121,211,304 |
V1257A |
probably damaging |
Het |
| Wdr6 |
A |
G |
9: 108,576,228 |
V152A |
possibly damaging |
Het |
| Zdhhc7 |
A |
G |
8: 120,087,923 |
V49A |
probably benign |
Het |
| Zfp648 |
T |
C |
1: 154,204,925 |
S277P |
probably damaging |
Het |
|
| Other mutations in Mtif2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00942:Mtif2
|
APN |
11 |
29538753 |
missense |
probably damaging |
1.00 |
|
IGL01020:Mtif2
|
APN |
11 |
29544973 |
missense |
possibly damaging |
0.61 |
|
IGL01323:Mtif2
|
APN |
11 |
29541447 |
missense |
probably damaging |
0.98 |
|
IGL01360:Mtif2
|
APN |
11 |
29530110 |
missense |
probably benign |
0.00 |
|
IGL01744:Mtif2
|
APN |
11 |
29544417 |
unclassified |
probably benign |
|
|
IGL02247:Mtif2
|
APN |
11 |
29540642 |
missense |
possibly damaging |
0.65 |
|
IGL02642:Mtif2
|
APN |
11 |
29544395 |
missense |
probably benign |
|
|
IGL03093:Mtif2
|
APN |
11 |
29530702 |
splice site |
probably benign |
|
|
R0418:Mtif2
|
UTSW |
11 |
29533401 |
splice site |
probably benign |
|
|
R0554:Mtif2
|
UTSW |
11 |
29533398 |
critical splice donor site |
probably null |
|
|
R0577:Mtif2
|
UTSW |
11 |
29540862 |
critical splice donor site |
probably null |
|
|
R1159:Mtif2
|
UTSW |
11 |
29540729 |
missense |
possibly damaging |
0.95 |
|
R1168:Mtif2
|
UTSW |
11 |
29536914 |
missense |
probably benign |
0.11 |
|
R1344:Mtif2
|
UTSW |
11 |
29545002 |
missense |
probably benign |
|
|
R1418:Mtif2
|
UTSW |
11 |
29545002 |
missense |
probably benign |
|
|
R1482:Mtif2
|
UTSW |
11 |
29536847 |
missense |
probably damaging |
1.00 |
|
R1657:Mtif2
|
UTSW |
11 |
29540721 |
missense |
probably benign |
0.00 |
|
R1850:Mtif2
|
UTSW |
11 |
29540683 |
missense |
probably benign |
0.03 |
|
R3692:Mtif2
|
UTSW |
11 |
29540718 |
missense |
probably benign |
0.03 |
|
R4471:Mtif2
|
UTSW |
11 |
29540053 |
splice site |
probably benign |
|
|
R4730:Mtif2
|
UTSW |
11 |
29540834 |
missense |
probably benign |
0.00 |
|
R5248:Mtif2
|
UTSW |
11 |
29536889 |
missense |
probably damaging |
1.00 |
|
R5343:Mtif2
|
UTSW |
11 |
29536964 |
missense |
probably damaging |
1.00 |
|
R5989:Mtif2
|
UTSW |
11 |
29530098 |
missense |
probably damaging |
0.96 |
|
R6511:Mtif2
|
UTSW |
11 |
29536949 |
missense |
possibly damaging |
0.81 |
|
R7209:Mtif2
|
UTSW |
11 |
29529996 |
missense |
probably benign |
0.00 |
|
R7318:Mtif2
|
UTSW |
11 |
29540115 |
missense |
probably benign |
0.25 |
|
R9120:Mtif2
|
UTSW |
11 |
29533951 |
missense |
probably benign |
0.00 |
|
R9224:Mtif2
|
UTSW |
11 |
29544364 |
missense |
probably benign |
0.09 |
|
R9256:Mtif2
|
UTSW |
11 |
29540777 |
missense |
probably benign |
0.00 |
|
R9266:Mtif2
|
UTSW |
11 |
29530065 |
missense |
probably benign |
0.00 |
|
R9745:Mtif2
|
UTSW |
11 |
29526587 |
start gained |
probably benign |
|
|
X0064:Mtif2
|
UTSW |
11 |
29538760 |
missense |
probably benign |
0.07 |
|
| Posted On |
2014-02-04 |
Incidental Mutation