Incidental Mutation 'IGL02642:Mtif2'
| ID |
301789 |
| 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: 0.963)
|
| Stock # |
IGL02642
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
29476408-29495279 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 29494395 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 666
(Q666K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000090926
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020749]
[ENSMUST00000020753]
[ENSMUST00000093239]
[ENSMUST00000102844]
[ENSMUST00000102845]
[ENSMUST00000208530]
[ENSMUST00000144321]
|
| AlphaFold |
Q91YJ5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020749
AA Change: Q666K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000020749
Gene: ENSMUSG00000020459
AA Change: Q666K
| 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: ENSMUST00000020753
|
| SMART Domains |
Protein: ENSMUSP00000020753
Gene: ENSMUSG00000020461
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TSNAXIP1_N
|
28 |
152 |
2.6e-26 |
PFAM |
|
Pfam:Clathrin_H_link
|
302 |
365 |
3.7e-18 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093239
AA Change: Q666K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000090926
Gene: ENSMUSG00000020459
AA Change: Q666K
| 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 |
noncoding transcript
Transcript: ENSMUST00000143418
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147782
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208530
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150739
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acadm |
T |
C |
3: 153,644,720 (GRCm39) |
D68G |
probably damaging |
Het |
| Amer3 |
A |
G |
1: 34,625,761 (GRCm39) |
|
probably benign |
Het |
| Ankrd11 |
A |
G |
8: 123,617,390 (GRCm39) |
L2133P |
probably damaging |
Het |
| Bcdin3d |
G |
T |
15: 99,368,673 (GRCm39) |
H175Q |
probably damaging |
Het |
| Brd8 |
C |
A |
18: 34,741,117 (GRCm39) |
|
probably benign |
Het |
| C1rl |
C |
A |
6: 124,470,806 (GRCm39) |
T38N |
possibly damaging |
Het |
| Cd160 |
T |
C |
3: 96,707,927 (GRCm39) |
T140A |
probably benign |
Het |
| Cdk16 |
T |
G |
X: 20,563,167 (GRCm39) |
D381E |
probably benign |
Het |
| Cpq |
G |
A |
15: 33,381,546 (GRCm39) |
G303D |
probably damaging |
Het |
| Dmp1 |
T |
C |
5: 104,359,536 (GRCm39) |
S71P |
probably damaging |
Het |
| Enc1 |
A |
C |
13: 97,382,042 (GRCm39) |
D184A |
possibly damaging |
Het |
| Enkur |
T |
C |
2: 21,199,198 (GRCm39) |
D112G |
probably benign |
Het |
| Esrra |
A |
T |
19: 6,890,218 (GRCm39) |
V59E |
possibly damaging |
Het |
| F830016B08Rik |
A |
G |
18: 60,433,058 (GRCm39) |
N47S |
probably benign |
Het |
| Fads1 |
T |
A |
19: 10,163,785 (GRCm39) |
V189D |
probably damaging |
Het |
| Fam167a |
T |
A |
14: 63,689,721 (GRCm39) |
I6N |
probably damaging |
Het |
| Fam98b |
A |
G |
2: 117,090,793 (GRCm39) |
T164A |
probably benign |
Het |
| Fhip2a |
A |
G |
19: 57,373,782 (GRCm39) |
N681D |
possibly damaging |
Het |
| Fryl |
T |
A |
5: 73,252,809 (GRCm39) |
I953L |
probably benign |
Het |
| Gm10610 |
T |
A |
7: 83,198,813 (GRCm39) |
|
noncoding transcript |
Het |
| Grik5 |
G |
T |
7: 24,758,408 (GRCm39) |
N338K |
possibly damaging |
Het |
| Gstt2 |
A |
G |
10: 75,668,652 (GRCm39) |
I72T |
probably benign |
Het |
| Gusb |
T |
C |
5: 130,029,376 (GRCm39) |
|
probably null |
Het |
| Hccs |
A |
G |
X: 168,098,588 (GRCm39) |
|
probably benign |
Het |
| Hoxb4 |
A |
G |
11: 96,211,050 (GRCm39) |
K217E |
probably damaging |
Het |
| Hpd |
C |
T |
5: 123,319,503 (GRCm39) |
V22I |
possibly damaging |
Het |
| Ighv1-47 |
A |
G |
12: 114,954,844 (GRCm39) |
Y79H |
probably damaging |
Het |
| Il7r |
C |
A |
15: 9,513,133 (GRCm39) |
|
probably benign |
Het |
| Lama1 |
A |
T |
17: 68,119,361 (GRCm39) |
M2613L |
probably benign |
Het |
| Lama2 |
G |
A |
10: 27,343,269 (GRCm39) |
H68Y |
probably damaging |
Het |
| Lce1c |
C |
A |
3: 92,587,845 (GRCm39) |
|
probably benign |
Het |
| Lmx1a |
G |
T |
1: 167,672,192 (GRCm39) |
|
probably benign |
Het |
| Lrfn1 |
T |
C |
7: 28,158,113 (GRCm39) |
|
probably benign |
Het |
| Lrriq1 |
T |
A |
10: 103,057,322 (GRCm39) |
|
probably null |
Het |
| Mri1 |
A |
T |
8: 84,983,702 (GRCm39) |
L63Q |
probably damaging |
Het |
| Mrps11 |
G |
T |
7: 78,438,522 (GRCm39) |
|
probably null |
Het |
| Mtr |
A |
T |
13: 12,210,118 (GRCm39) |
|
probably benign |
Het |
| Mug1 |
A |
G |
6: 121,859,544 (GRCm39) |
N1181S |
probably benign |
Het |
| Myom1 |
A |
T |
17: 71,408,093 (GRCm39) |
E1209V |
possibly damaging |
Het |
| Nhsl1 |
A |
G |
10: 18,284,138 (GRCm39) |
I26M |
possibly damaging |
Het |
| Nlrp1a |
T |
A |
11: 71,014,358 (GRCm39) |
K297N |
probably benign |
Het |
| Obox5 |
T |
C |
7: 15,491,972 (GRCm39) |
V129A |
probably benign |
Het |
| Pex16 |
C |
T |
2: 92,206,981 (GRCm39) |
A53V |
probably damaging |
Het |
| Pfpl |
T |
C |
19: 12,407,107 (GRCm39) |
F453L |
probably damaging |
Het |
| Pip5k1b |
G |
T |
19: 24,323,731 (GRCm39) |
H406N |
probably benign |
Het |
| Pip5k1c |
C |
A |
10: 81,153,155 (GRCm39) |
|
probably null |
Het |
| Plcxd3 |
T |
C |
15: 4,546,122 (GRCm39) |
F42S |
possibly damaging |
Het |
| Pnpla7 |
T |
C |
2: 24,940,288 (GRCm39) |
F1056L |
probably benign |
Het |
| Rapgef1 |
T |
C |
2: 29,590,872 (GRCm39) |
|
probably benign |
Het |
| Rdh11 |
G |
A |
12: 79,232,110 (GRCm39) |
|
probably benign |
Het |
| Serac1 |
A |
G |
17: 6,096,021 (GRCm39) |
F576S |
possibly damaging |
Het |
| Slc45a4 |
A |
T |
15: 73,458,664 (GRCm39) |
M295K |
probably benign |
Het |
| Taf1c |
T |
C |
8: 120,325,796 (GRCm39) |
T689A |
probably benign |
Het |
| Timm10b |
G |
T |
7: 105,317,645 (GRCm39) |
|
probably benign |
Het |
| Tle5 |
A |
T |
10: 81,397,126 (GRCm39) |
Q34L |
possibly damaging |
Het |
| Tnc |
A |
T |
4: 63,883,816 (GRCm39) |
|
probably benign |
Het |
| Toporsl |
T |
C |
4: 52,611,114 (GRCm39) |
W336R |
probably benign |
Het |
| Usp54 |
C |
A |
14: 20,615,140 (GRCm39) |
|
probably benign |
Het |
| Vmn1r233 |
T |
C |
17: 21,214,291 (GRCm39) |
R220G |
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 |
|
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