Incidental Mutation 'R5343:Mtif2'
ID |
422455 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mtif2
|
Ensembl Gene |
ENSMUSG00000020459 |
Gene Name |
mitochondrial translational initiation factor 2 |
Synonyms |
2310038D14Rik, IF-2mt, 2410112O06Rik |
MMRRC Submission |
042922-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.964)
|
Stock # |
R5343 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
29476408-29495279 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 29486964 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Serine
at position 134
(A134S)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020749]
[ENSMUST00000093239]
[ENSMUST00000133452]
[ENSMUST00000136351]
[ENSMUST00000144321]
|
AlphaFold |
Q91YJ5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000020749
AA Change: A325S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000020749 Gene: ENSMUSG00000020459 AA Change: A325S
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 damaging
Transcript: ENSMUST00000093239
AA Change: A325S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000090926 Gene: ENSMUSG00000020459 AA Change: A325S
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 damaging
Transcript: ENSMUST00000132783
AA Change: A134S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000121327 Gene: ENSMUSG00000020459 AA Change: A134S
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 damaging
Transcript: ENSMUST00000144321
AA Change: A325S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000114299 Gene: ENSMUSG00000020459 AA Change: A325S
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 |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.4%
|
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310039H08Rik |
C |
A |
17: 47,083,962 (GRCm39) |
A75E |
probably damaging |
Het |
Adck5 |
G |
A |
15: 76,479,780 (GRCm39) |
R560H |
probably damaging |
Het |
Ahctf1 |
A |
T |
1: 179,598,199 (GRCm39) |
Y964* |
probably null |
Het |
Alg8 |
T |
C |
7: 97,036,126 (GRCm39) |
I339T |
possibly damaging |
Het |
Alox5 |
T |
C |
6: 116,390,468 (GRCm39) |
D503G |
possibly damaging |
Het |
Camk4 |
A |
G |
18: 33,211,122 (GRCm39) |
T76A |
probably damaging |
Het |
Cdh3 |
T |
C |
8: 107,279,568 (GRCm39) |
V728A |
probably benign |
Het |
Chd4 |
T |
A |
6: 125,097,326 (GRCm39) |
N1326K |
probably damaging |
Het |
Cnn1 |
A |
T |
9: 22,016,706 (GRCm39) |
Y48F |
probably benign |
Het |
Dnah6 |
T |
A |
6: 73,189,599 (GRCm39) |
E16D |
probably benign |
Het |
Ezh2 |
A |
G |
6: 47,553,549 (GRCm39) |
L56S |
probably damaging |
Het |
F13b |
T |
C |
1: 139,438,282 (GRCm39) |
V299A |
possibly damaging |
Het |
Hydin |
T |
C |
8: 111,212,051 (GRCm39) |
S1279P |
probably benign |
Het |
Ift172 |
T |
C |
5: 31,421,156 (GRCm39) |
M981V |
probably benign |
Het |
Inava |
G |
T |
1: 136,153,180 (GRCm39) |
H237Q |
probably benign |
Het |
Lpl |
T |
A |
8: 69,348,389 (GRCm39) |
V206E |
probably damaging |
Het |
Mre11a |
A |
G |
9: 14,723,130 (GRCm39) |
D368G |
probably damaging |
Het |
Mreg |
G |
A |
1: 72,200,117 (GRCm39) |
P191L |
probably damaging |
Het |
Mxd4 |
T |
C |
5: 34,335,074 (GRCm39) |
S114G |
probably benign |
Het |
Myo1b |
T |
C |
1: 51,817,696 (GRCm39) |
Q522R |
probably benign |
Het |
Ncapd3 |
GGCTGCTGCTGCTGCTGCTGCTG |
GGCTGCTGCTGCTGCTGCTG |
9: 26,999,349 (GRCm39) |
|
probably benign |
Het |
Ninl |
T |
C |
2: 150,813,110 (GRCm39) |
E182G |
probably benign |
Het |
Notch3 |
T |
C |
17: 32,362,257 (GRCm39) |
N1456S |
probably benign |
Het |
Npr1 |
G |
T |
3: 90,365,515 (GRCm39) |
N648K |
possibly damaging |
Het |
Oas3 |
A |
G |
5: 120,894,303 (GRCm39) |
S1016P |
possibly damaging |
Het |
Or10a3 |
C |
T |
7: 108,480,205 (GRCm39) |
V203M |
possibly damaging |
Het |
Or9i14 |
T |
C |
19: 13,792,324 (GRCm39) |
N210S |
probably damaging |
Het |
Palld |
A |
G |
8: 62,002,849 (GRCm39) |
|
probably benign |
Het |
Patj |
T |
G |
4: 98,564,430 (GRCm39) |
I1021S |
probably damaging |
Het |
Pfpl |
T |
A |
19: 12,406,052 (GRCm39) |
L101Q |
probably damaging |
Het |
Pilrb2 |
T |
A |
5: 137,869,228 (GRCm39) |
E124V |
possibly damaging |
Het |
Pomk |
A |
G |
8: 26,473,044 (GRCm39) |
F303S |
probably benign |
Het |
Rap1gap2 |
A |
T |
11: 74,332,611 (GRCm39) |
S65T |
probably damaging |
Het |
Sema3a |
G |
A |
5: 13,523,373 (GRCm39) |
C114Y |
probably damaging |
Het |
Sfi1 |
A |
ATCTTCCCAAAGCCAGTGC |
11: 3,103,384 (GRCm39) |
|
probably benign |
Het |
Spry4 |
A |
T |
18: 38,723,028 (GRCm39) |
V245E |
probably damaging |
Het |
Srrt |
T |
C |
5: 137,295,427 (GRCm39) |
Y271C |
probably damaging |
Het |
Tas2r136 |
A |
G |
6: 132,755,043 (GRCm39) |
V28A |
probably benign |
Het |
Tenm2 |
A |
G |
11: 35,960,330 (GRCm39) |
V998A |
probably benign |
Het |
Trim37 |
A |
G |
11: 87,028,429 (GRCm39) |
E46G |
probably damaging |
Het |
Ubiad1 |
A |
G |
4: 148,520,892 (GRCm39) |
V244A |
possibly 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 |
|
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 |
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'- AGAGCAGATTGGTATTTCTCACAGC -3'
(R):5'- TGGAACATAGCTTTAATTCCAGCAC -3'
Sequencing Primer
(F):5'- CTCACAGCGAATGTCTGGAATTG -3'
(R):5'- CAGCACTTGGGAGGCAG -3'
|
Posted On |
2016-08-04 |