Incidental Mutation 'R0577:Mtif2'
| ID |
56268 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mtif2
|
| Ensembl Gene |
ENSMUSG00000020459 |
| Gene Name |
mitochondrial translational initiation factor 2 |
| Synonyms |
2310038D14Rik, IF-2mt, 2410112O06Rik |
| MMRRC Submission |
038767-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.963)
|
| Stock # |
R0577 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
29476408-29495279 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to T
at 29490862 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000090926
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020749]
[ENSMUST00000093239]
[ENSMUST00000102844]
[ENSMUST00000102845]
[ENSMUST00000144321]
|
| AlphaFold |
Q91YJ5 |
| Predicted Effect |
probably null
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 null
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
|
| Meta Mutation Damage Score |
0.9581 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.2%
|
| Validation Efficiency |
97% (30/31) |
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars1 |
T |
A |
8: 111,769,910 (GRCm39) |
H336Q |
probably benign |
Het |
| Abcc2 |
A |
T |
19: 43,807,840 (GRCm39) |
D827V |
probably damaging |
Het |
| Asph |
G |
T |
4: 9,604,620 (GRCm39) |
A139E |
probably benign |
Het |
| Bag3 |
T |
C |
7: 128,125,611 (GRCm39) |
M10T |
probably benign |
Het |
| Bod1l |
T |
C |
5: 41,952,230 (GRCm39) |
D2894G |
probably damaging |
Het |
| Cdk12 |
T |
C |
11: 98,094,332 (GRCm39) |
S47P |
probably damaging |
Het |
| Dchs1 |
C |
T |
7: 105,413,462 (GRCm39) |
V1118I |
possibly damaging |
Het |
| Ddi2 |
A |
T |
4: 141,411,818 (GRCm39) |
C365S |
possibly damaging |
Het |
| Eef1g |
A |
G |
19: 8,950,406 (GRCm39) |
D264G |
probably benign |
Het |
| Fbxw17 |
T |
C |
13: 50,585,619 (GRCm39) |
L274P |
probably benign |
Het |
| Gpc6 |
A |
G |
14: 117,673,420 (GRCm39) |
T226A |
probably benign |
Het |
| Klf12 |
T |
A |
14: 100,260,585 (GRCm39) |
Y48F |
probably damaging |
Het |
| Klhdc4 |
C |
T |
8: 122,548,090 (GRCm39) |
A67T |
probably damaging |
Het |
| Macir |
C |
T |
1: 97,589,551 (GRCm39) |
|
probably null |
Het |
| Madd |
C |
T |
2: 90,968,740 (GRCm39) |
E1596K |
possibly damaging |
Het |
| Mov10l1 |
A |
G |
15: 88,889,930 (GRCm39) |
Y533C |
probably damaging |
Het |
| Mtmr6 |
G |
A |
14: 60,534,087 (GRCm39) |
V442I |
possibly damaging |
Het |
| Or4k15b |
C |
T |
14: 50,272,249 (GRCm39) |
G204R |
probably damaging |
Het |
| Or5ac23 |
A |
T |
16: 59,149,061 (GRCm39) |
D270E |
probably benign |
Het |
| Or9i16 |
T |
C |
19: 13,865,167 (GRCm39) |
T136A |
probably damaging |
Het |
| Pdcd11 |
A |
G |
19: 47,087,271 (GRCm39) |
N277S |
probably benign |
Het |
| Pias2 |
A |
T |
18: 77,184,977 (GRCm39) |
L12F |
probably damaging |
Het |
| Potefam1 |
G |
T |
2: 111,024,694 (GRCm39) |
Q57K |
probably benign |
Het |
| Rnf213 |
G |
T |
11: 119,334,106 (GRCm39) |
R3105L |
probably damaging |
Het |
| Rps11 |
A |
G |
7: 44,772,274 (GRCm39) |
V111A |
probably benign |
Het |
| Rrs1 |
C |
A |
1: 9,616,026 (GRCm39) |
|
probably null |
Het |
| Thsd7a |
T |
C |
6: 12,321,047 (GRCm39) |
T1543A |
possibly damaging |
Het |
| Vmn2r86 |
C |
A |
10: 130,288,444 (GRCm39) |
R352S |
probably benign |
Het |
| Zfp141 |
T |
C |
7: 42,125,938 (GRCm39) |
N178S |
probably benign |
Het |
| Zfp955a |
A |
T |
17: 33,461,068 (GRCm39) |
F355I |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCCCGTGAAGTTATTGAATGGAGG -3'
(R):5'- TCAATTAAGGATTTACTGGGGCAGTGC -3'
Sequencing Primer
(F):5'- TTATTGAATGGAGGAAGTCTGAGC -3'
(R):5'- ACCTGGACATTTATAGGCTAGGC -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation