Incidental Mutation 'IGL02003:Eif3m'
| ID |
182201 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Eif3m
|
| Ensembl Gene |
ENSMUSG00000027170 |
| Gene Name |
eukaryotic translation initiation factor 3, subunit M |
| Synonyms |
Tango7, Pcid1, Ga17 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02003
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
104830001-104847372 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
C to T
at 104843188 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028592]
[ENSMUST00000111110]
|
| AlphaFold |
Q99JX4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028592
|
| SMART Domains |
Protein: ENSMUSP00000028592
Gene: ENSMUSG00000027170
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:HDc
|
119 |
209 |
1e-12 |
BLAST |
|
PINT
|
268 |
357 |
6.42e-26 |
SMART |
|
low complexity region
|
358 |
372 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111110
|
| SMART Domains |
Protein: ENSMUSP00000106739
Gene: ENSMUSG00000027170
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:HDc
|
13 |
77 |
7e-8 |
BLAST |
|
PINT
|
136 |
225 |
6.42e-26 |
SMART |
|
low complexity region
|
226 |
240 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130611
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144358
|
| SMART Domains |
Protein: ENSMUSP00000114374
Gene: ENSMUSG00000045106
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CCDC73
|
1 |
182 |
3.1e-77 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is part of the eurkaryotic translation initiation factor 3 complete (eIF-3) required for protein synthesis. Elevated levels of the encoded protein are present in cancer cell lines. Inactivation of the encoded protein has been shown to interfere with translation of herpes virus mRNAs by preventing the association of mRNAs with the ribosomes. A pseudogene of this gene is located on the X chromosome. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for a targeted allele exhibit embryonic lethality. Mice heterozygous for this allele exhibit decreased body weight and altered organ weights. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930449E01Rik |
A |
G |
14: 105,736,392 (GRCm39) |
|
noncoding transcript |
Het |
| Adam1b |
G |
A |
5: 121,639,354 (GRCm39) |
L564F |
probably damaging |
Het |
| Alms1 |
C |
T |
6: 85,599,205 (GRCm39) |
P1344S |
possibly damaging |
Het |
| Cnnm2 |
G |
T |
19: 46,856,998 (GRCm39) |
G699W |
probably damaging |
Het |
| Crybg2 |
A |
G |
4: 133,799,767 (GRCm39) |
K309R |
probably benign |
Het |
| Csnk2a1 |
C |
T |
2: 152,118,890 (GRCm39) |
R333* |
probably null |
Het |
| Fgfr2 |
T |
C |
7: 129,820,802 (GRCm39) |
D244G |
probably damaging |
Het |
| H2-Q10 |
A |
G |
17: 35,781,338 (GRCm39) |
I47V |
probably benign |
Het |
| Hmcn2 |
C |
T |
2: 31,318,994 (GRCm39) |
T3898I |
possibly damaging |
Het |
| Isyna1 |
G |
A |
8: 71,049,407 (GRCm39) |
V440M |
possibly damaging |
Het |
| Itpr3 |
A |
G |
17: 27,340,449 (GRCm39) |
K2654E |
probably damaging |
Het |
| Lrrd1 |
C |
T |
5: 3,899,857 (GRCm39) |
T54I |
probably damaging |
Het |
| Lrrk2 |
G |
A |
15: 91,615,694 (GRCm39) |
V843M |
probably damaging |
Het |
| Morc2b |
A |
T |
17: 33,357,298 (GRCm39) |
V158D |
probably benign |
Het |
| Mroh7 |
T |
C |
4: 106,559,726 (GRCm39) |
T734A |
probably damaging |
Het |
| Mylk3 |
T |
C |
8: 86,085,727 (GRCm39) |
D136G |
probably benign |
Het |
| Nos1 |
T |
C |
5: 118,043,530 (GRCm39) |
S602P |
probably damaging |
Het |
| Nsmaf |
T |
C |
4: 6,418,522 (GRCm39) |
I428V |
probably benign |
Het |
| Nup93 |
T |
G |
8: 95,028,737 (GRCm39) |
Y323* |
probably null |
Het |
| Or5ac21 |
G |
A |
16: 59,123,996 (GRCm39) |
G161D |
probably damaging |
Het |
| Or7g21 |
A |
T |
9: 19,032,361 (GRCm39) |
M34L |
probably benign |
Het |
| Or8b50 |
C |
T |
9: 38,518,136 (GRCm39) |
A125V |
probably damaging |
Het |
| Ppm1m |
C |
A |
9: 106,076,356 (GRCm39) |
G13W |
probably damaging |
Het |
| Prok1 |
T |
G |
3: 107,142,979 (GRCm39) |
H75P |
probably damaging |
Het |
| Ptprb |
A |
T |
10: 116,203,410 (GRCm39) |
I1774F |
probably damaging |
Het |
| Rasl10b |
A |
T |
11: 83,308,679 (GRCm39) |
E73V |
probably damaging |
Het |
| Rhbdl3 |
A |
G |
11: 80,228,342 (GRCm39) |
T271A |
possibly damaging |
Het |
| Serpina3a |
A |
G |
12: 104,082,259 (GRCm39) |
M11V |
probably benign |
Het |
| Setdb2 |
T |
C |
14: 59,650,939 (GRCm39) |
E464G |
probably damaging |
Het |
| Slc8a1 |
A |
G |
17: 81,735,625 (GRCm39) |
I749T |
possibly damaging |
Het |
| Slco6d1 |
T |
A |
1: 98,408,493 (GRCm39) |
I463N |
probably damaging |
Het |
| Sncb |
A |
T |
13: 54,910,743 (GRCm39) |
V51E |
probably damaging |
Het |
| Stk32c |
A |
G |
7: 138,768,069 (GRCm39) |
S71P |
possibly damaging |
Het |
| Tet1 |
A |
G |
10: 62,652,179 (GRCm39) |
V1613A |
possibly damaging |
Het |
| Vmn2r91 |
T |
A |
17: 18,327,921 (GRCm39) |
I505K |
probably benign |
Het |
| Zfp110 |
A |
T |
7: 12,583,832 (GRCm39) |
K827* |
probably null |
Het |
| Zfp438 |
A |
T |
18: 5,214,503 (GRCm39) |
C152S |
probably benign |
Het |
|
| Other mutations in Eif3m |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02661:Eif3m
|
APN |
2 |
104,835,314 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02932:Eif3m
|
APN |
2 |
104,845,214 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0039:Eif3m
|
UTSW |
2 |
104,836,217 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0373:Eif3m
|
UTSW |
2 |
104,835,345 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1452:Eif3m
|
UTSW |
2 |
104,837,122 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1695:Eif3m
|
UTSW |
2 |
104,847,298 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1934:Eif3m
|
UTSW |
2 |
104,831,624 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2115:Eif3m
|
UTSW |
2 |
104,837,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2416:Eif3m
|
UTSW |
2 |
104,844,178 (GRCm39) |
missense |
probably benign |
|
|
R4610:Eif3m
|
UTSW |
2 |
104,843,633 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4713:Eif3m
|
UTSW |
2 |
104,837,184 (GRCm39) |
splice site |
probably null |
|
|
R5373:Eif3m
|
UTSW |
2 |
104,843,277 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5374:Eif3m
|
UTSW |
2 |
104,843,277 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5725:Eif3m
|
UTSW |
2 |
104,844,186 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7996:Eif3m
|
UTSW |
2 |
104,831,694 (GRCm39) |
missense |
probably benign |
0.22 |
|
R8983:Eif3m
|
UTSW |
2 |
104,830,139 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R9082:Eif3m
|
UTSW |
2 |
104,836,217 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9227:Eif3m
|
UTSW |
2 |
104,831,705 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9230:Eif3m
|
UTSW |
2 |
104,831,705 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Eif3m
|
UTSW |
2 |
104,843,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Eif3m
|
UTSW |
2 |
104,831,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-05-07 |
Incidental Mutation