Incidental Mutation 'IGL02247:Mtif2'
| ID |
286248 |
| 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: 0.964)
|
| Stock # |
IGL02247
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
29476408-29495279 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 29490642 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 449
(S449P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000090926
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020749]
[ENSMUST00000093239]
[ENSMUST00000144321]
|
| AlphaFold |
Q91YJ5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020749
AA Change: S449P
PolyPhen 2
Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000020749
Gene: ENSMUSG00000020459
AA Change: S449P
| 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: S449P
PolyPhen 2
Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000090926
Gene: ENSMUSG00000020459
AA Change: S449P
| 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 |
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 |
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl2 |
A |
G |
2: 26,974,905 (GRCm39) |
R177G |
probably damaging |
Het |
| Ap3b1 |
T |
C |
13: 94,531,303 (GRCm39) |
|
probably null |
Het |
| Ascc3 |
A |
C |
10: 50,526,686 (GRCm39) |
K595T |
probably damaging |
Het |
| Cnpy4 |
A |
G |
5: 138,191,125 (GRCm39) |
T234A |
probably benign |
Het |
| Col13a1 |
T |
C |
10: 61,797,124 (GRCm39) |
Y101C |
probably damaging |
Het |
| Crybg3 |
A |
G |
16: 59,323,513 (GRCm39) |
I2809T |
probably damaging |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Dgkz |
T |
C |
2: 91,767,805 (GRCm39) |
S824G |
probably benign |
Het |
| Dsg1c |
T |
A |
18: 20,397,373 (GRCm39) |
I27N |
probably damaging |
Het |
| Efhb |
C |
T |
17: 53,708,652 (GRCm39) |
V673I |
probably benign |
Het |
| Egr1 |
T |
C |
18: 34,995,916 (GRCm39) |
Y233H |
possibly damaging |
Het |
| Fam184a |
T |
C |
10: 53,551,256 (GRCm39) |
E237G |
probably damaging |
Het |
| Galt |
A |
G |
4: 41,755,623 (GRCm39) |
|
probably benign |
Het |
| Gm4795 |
T |
C |
10: 44,883,211 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6563 |
G |
A |
19: 23,653,392 (GRCm39) |
E61K |
possibly damaging |
Het |
| Igkv1-133 |
G |
A |
6: 67,702,590 (GRCm39) |
V103M |
probably damaging |
Het |
| Iqcb1 |
T |
A |
16: 36,660,258 (GRCm39) |
H140Q |
probably benign |
Het |
| Itpk1 |
G |
T |
12: 102,589,668 (GRCm39) |
P74Q |
probably damaging |
Het |
| Itpr3 |
T |
A |
17: 27,317,153 (GRCm39) |
W803R |
probably damaging |
Het |
| Lgr4 |
A |
T |
2: 109,832,846 (GRCm39) |
D312V |
probably benign |
Het |
| Lgr4 |
C |
T |
2: 109,838,420 (GRCm39) |
|
probably benign |
Het |
| Lyst |
G |
A |
13: 13,835,541 (GRCm39) |
C1741Y |
probably benign |
Het |
| Mllt6 |
C |
A |
11: 97,561,158 (GRCm39) |
A282E |
probably benign |
Het |
| Nrg3 |
T |
C |
14: 38,093,269 (GRCm39) |
I533M |
probably damaging |
Het |
| Nynrin |
C |
T |
14: 56,109,167 (GRCm39) |
Q1425* |
probably null |
Het |
| Or12e13 |
A |
G |
2: 87,663,873 (GRCm39) |
I163M |
probably damaging |
Het |
| Or1e1f |
A |
T |
11: 73,855,688 (GRCm39) |
M85L |
probably benign |
Het |
| Or4n4b |
T |
A |
14: 50,536,571 (GRCm39) |
N65I |
probably damaging |
Het |
| Or4p22 |
C |
T |
2: 88,317,771 (GRCm39) |
H232Y |
probably benign |
Het |
| Or56a3 |
T |
A |
7: 104,735,530 (GRCm39) |
Y202* |
probably null |
Het |
| Or5b3 |
T |
A |
19: 13,388,831 (GRCm39) |
S299R |
probably benign |
Het |
| Or7e175 |
G |
A |
9: 20,048,516 (GRCm39) |
V35I |
probably benign |
Het |
| Plcb4 |
C |
T |
2: 135,836,245 (GRCm39) |
T20I |
possibly damaging |
Het |
| Ppp1r12b |
G |
T |
1: 134,763,721 (GRCm39) |
T771K |
probably benign |
Het |
| Prss22 |
T |
C |
17: 24,215,363 (GRCm39) |
T138A |
probably benign |
Het |
| Ros1 |
A |
T |
10: 52,005,677 (GRCm39) |
S907T |
probably damaging |
Het |
| Rtel1 |
T |
A |
2: 180,993,134 (GRCm39) |
Y521* |
probably null |
Het |
| Sacs |
T |
C |
14: 61,429,984 (GRCm39) |
F678S |
probably damaging |
Het |
| Smtnl1 |
A |
T |
2: 84,647,372 (GRCm39) |
|
probably benign |
Het |
| Sumf2 |
T |
C |
5: 129,888,986 (GRCm39) |
V258A |
probably damaging |
Het |
| Tas1r2 |
A |
T |
4: 139,396,827 (GRCm39) |
Y722F |
probably damaging |
Het |
| Tecpr1 |
A |
G |
5: 144,143,372 (GRCm39) |
F668L |
possibly damaging |
Het |
| Timd4 |
T |
C |
11: 46,706,558 (GRCm39) |
F120S |
probably damaging |
Het |
| Tnnt3 |
T |
C |
7: 142,062,062 (GRCm39) |
|
probably benign |
Het |
| Trp53bp1 |
G |
A |
2: 121,067,070 (GRCm39) |
S552F |
probably damaging |
Het |
| Txlnb |
G |
A |
10: 17,706,090 (GRCm39) |
R333Q |
possibly damaging |
Het |
| Txlnb |
A |
G |
10: 17,717,276 (GRCm39) |
|
probably benign |
Het |
| Uroc1 |
A |
G |
6: 90,324,910 (GRCm39) |
E461G |
probably benign |
Het |
| Vps45 |
G |
A |
3: 95,950,236 (GRCm39) |
T231I |
probably damaging |
Het |
| Zfp648 |
T |
A |
1: 154,079,923 (GRCm39) |
S27R |
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 |
|
|
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 |
2015-04-16 |
Incidental Mutation