Incidental Mutation 'R1657:Mtif2'
| ID |
186476 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mtif2
|
| Ensembl Gene |
ENSMUSG00000020459 |
| Gene Name |
mitochondrial translational initiation factor 2 |
| Synonyms |
2310038D14Rik, IF-2mt, 2410112O06Rik |
| MMRRC Submission |
039693-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.964)
|
| Stock # |
R1657 (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 A
at 29490721 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 475
(R475Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000090926
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020749]
[ENSMUST00000093239]
[ENSMUST00000144321]
|
| AlphaFold |
Q91YJ5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020749
AA Change: R475Q
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000020749
Gene: ENSMUSG00000020459
AA Change: R475Q
| 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
AA Change: R475Q
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000090926
Gene: ENSMUSG00000020459
AA Change: R475Q
| 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 |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.2%
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
T |
G |
11: 84,154,910 (GRCm39) |
D988E |
probably benign |
Het |
| Als2 |
A |
G |
1: 59,219,760 (GRCm39) |
V1185A |
probably damaging |
Het |
| Amdhd2 |
A |
G |
17: 24,375,029 (GRCm39) |
V391A |
probably damaging |
Het |
| Armh4 |
G |
C |
14: 50,011,017 (GRCm39) |
T230S |
probably damaging |
Het |
| Caprin1 |
A |
T |
2: 103,599,851 (GRCm39) |
V608E |
probably damaging |
Het |
| Celsr3 |
T |
A |
9: 108,720,151 (GRCm39) |
C2512* |
probably null |
Het |
| Cfl1 |
A |
T |
19: 5,543,583 (GRCm39) |
R187W |
probably damaging |
Het |
| Cgnl1 |
C |
T |
9: 71,633,226 (GRCm39) |
V42I |
probably damaging |
Het |
| Chd2 |
A |
G |
7: 73,130,178 (GRCm39) |
Y826H |
probably damaging |
Het |
| Col9a2 |
C |
A |
4: 120,898,171 (GRCm39) |
P28T |
unknown |
Het |
| Cyp3a44 |
G |
A |
5: 145,716,553 (GRCm39) |
P346S |
probably damaging |
Het |
| Dact2 |
A |
G |
17: 14,418,252 (GRCm39) |
V151A |
probably benign |
Het |
| Dhx29 |
T |
C |
13: 113,089,377 (GRCm39) |
I716T |
probably damaging |
Het |
| Entrep1 |
C |
A |
19: 23,952,999 (GRCm39) |
C437F |
probably damaging |
Het |
| Esam |
T |
C |
9: 37,448,917 (GRCm39) |
S342P |
probably damaging |
Het |
| Fer1l4 |
A |
G |
2: 155,877,518 (GRCm39) |
V1053A |
possibly damaging |
Het |
| Grk3 |
A |
G |
5: 113,114,848 (GRCm39) |
F124S |
probably damaging |
Het |
| H2-DMa |
G |
A |
17: 34,356,373 (GRCm39) |
|
probably null |
Het |
| Hsd3b5 |
T |
A |
3: 98,527,036 (GRCm39) |
I137F |
possibly damaging |
Het |
| Itgav |
A |
T |
2: 83,632,123 (GRCm39) |
I902F |
probably benign |
Het |
| Itsn1 |
G |
T |
16: 91,706,111 (GRCm39) |
C179F |
probably damaging |
Het |
| Kcnh8 |
G |
A |
17: 53,146,153 (GRCm39) |
R347H |
probably damaging |
Het |
| Kif9 |
T |
C |
9: 110,319,034 (GRCm39) |
M166T |
possibly damaging |
Het |
| Kmt5c |
C |
T |
7: 4,749,453 (GRCm39) |
Q324* |
probably null |
Het |
| Lcn9 |
G |
A |
2: 25,714,722 (GRCm39) |
E154K |
probably benign |
Het |
| Mfge8 |
A |
T |
7: 78,791,521 (GRCm39) |
L227Q |
probably benign |
Het |
| Mroh2b |
A |
T |
15: 4,960,525 (GRCm39) |
R753* |
probably null |
Het |
| Nln |
C |
T |
13: 104,173,455 (GRCm39) |
V584I |
possibly damaging |
Het |
| Nr2e3 |
T |
C |
9: 59,856,050 (GRCm39) |
E129G |
probably benign |
Het |
| Ocstamp |
T |
C |
2: 165,239,436 (GRCm39) |
D250G |
probably damaging |
Het |
| Or1a1 |
A |
T |
11: 74,086,722 (GRCm39) |
H131L |
probably damaging |
Het |
| Or52n4b |
T |
C |
7: 108,144,584 (GRCm39) |
I284T |
possibly damaging |
Het |
| Or8k27 |
A |
C |
2: 86,275,562 (GRCm39) |
L255V |
probably damaging |
Het |
| Pld1 |
A |
T |
3: 28,125,336 (GRCm39) |
I417L |
probably benign |
Het |
| Polr1a |
A |
T |
6: 71,918,519 (GRCm39) |
K692N |
probably damaging |
Het |
| Qsox2 |
A |
T |
2: 26,110,759 (GRCm39) |
Y152* |
probably null |
Het |
| Rpap1 |
T |
C |
2: 119,614,259 (GRCm39) |
D46G |
possibly damaging |
Het |
| Rpe65 |
A |
G |
3: 159,320,085 (GRCm39) |
T246A |
probably damaging |
Het |
| Scn5a |
T |
C |
9: 119,391,446 (GRCm39) |
D82G |
probably damaging |
Het |
| Sema3d |
A |
G |
5: 12,634,941 (GRCm39) |
E669G |
possibly damaging |
Het |
| Serpinb6c |
T |
C |
13: 34,064,209 (GRCm39) |
N282S |
probably benign |
Het |
| Snap47 |
A |
T |
11: 59,319,596 (GRCm39) |
S181T |
probably benign |
Het |
| Snx9 |
A |
C |
17: 5,968,711 (GRCm39) |
T336P |
possibly damaging |
Het |
| Sphkap |
G |
A |
1: 83,255,236 (GRCm39) |
R838* |
probably null |
Het |
| Terb1 |
A |
T |
8: 105,215,123 (GRCm39) |
D284E |
possibly damaging |
Het |
| Tmem266 |
C |
T |
9: 55,325,292 (GRCm39) |
A153V |
probably damaging |
Het |
| Trappc2b |
T |
C |
11: 51,576,505 (GRCm39) |
Q131R |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,573,148 (GRCm39) |
E25915G |
possibly damaging |
Het |
| Tubal3 |
A |
G |
13: 3,983,011 (GRCm39) |
T264A |
possibly damaging |
Het |
| Vldlr |
G |
A |
19: 27,223,070 (GRCm39) |
R747Q |
probably benign |
Het |
| Zc3h8 |
G |
T |
2: 128,771,877 (GRCm39) |
|
probably benign |
Het |
| Zfp184 |
C |
T |
13: 22,143,443 (GRCm39) |
T383M |
probably damaging |
Het |
| Zfp455 |
T |
C |
13: 67,346,703 (GRCm39) |
F38S |
possibly damaging |
Het |
| Zfp746 |
A |
G |
6: 48,059,108 (GRCm39) |
V167A |
possibly damaging |
Het |
| Zfp985 |
T |
A |
4: 147,668,567 (GRCm39) |
N478K |
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 |
|
|
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 |
|
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'- ATAGGCTGGAGAGACCTTCCTTCTGC -3'
(R):5'- GGCTTAGAGAGCAAGACTGCAACTC -3'
Sequencing Primer
(F):5'- TGAGGTATTCAAGCCTAATTCCC -3'
(R):5'- GAGCAAGACTGCAACTCTTCAC -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation