Incidental Mutation 'R0683:Eif3i'
| ID |
61046 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eif3i
|
| Ensembl Gene |
ENSMUSG00000028798 |
| Gene Name |
eukaryotic translation initiation factor 3, subunit I |
| Synonyms |
D4Ertd632e, Eif3s2, TRIP-1, 36kDa |
| MMRRC Submission |
038868-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.966)
|
| Stock # |
R0683 (G1)
|
| Quality Score |
117 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
129485767-129494441 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 129487328 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 162
(N162K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120776
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102593]
[ENSMUST00000135055]
|
| AlphaFold |
Q9QZD9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102593
AA Change: N210K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000099653
Gene: ENSMUSG00000028798
AA Change: N210K
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
1 |
38 |
1.1e1 |
SMART |
|
WD40
|
41 |
80 |
1.07e-8 |
SMART |
|
WD40
|
135 |
174 |
3.84e0 |
SMART |
|
WD40
|
177 |
216 |
6.63e-5 |
SMART |
|
Blast:WD40
|
219 |
257 |
2e-18 |
BLAST |
|
WD40
|
274 |
313 |
3.75e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135055
AA Change: N162K
PolyPhen 2
Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000120776
Gene: ENSMUSG00000028798
AA Change: N162K
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
2 |
32 |
1.54e0 |
SMART |
|
Blast:WD40
|
35 |
78 |
1e-9 |
BLAST |
|
WD40
|
87 |
126 |
3.84e0 |
SMART |
|
WD40
|
129 |
163 |
8.25e0 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136843
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143384
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155428
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 94.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahdc1 |
T |
C |
4: 132,792,827 (GRCm39) |
F1356S |
possibly damaging |
Het |
| Atg16l2 |
T |
C |
7: 100,939,591 (GRCm39) |
D533G |
probably damaging |
Het |
| Camta1 |
C |
A |
4: 151,159,597 (GRCm39) |
R1614L |
probably damaging |
Het |
| Exoc8 |
A |
G |
8: 125,622,372 (GRCm39) |
I665T |
probably damaging |
Het |
| Ggt7 |
A |
G |
2: 155,348,428 (GRCm39) |
S75P |
probably benign |
Het |
| Gjd3 |
A |
T |
11: 102,691,237 (GRCm39) |
F255L |
probably benign |
Het |
| Krt1 |
A |
G |
15: 101,758,901 (GRCm39) |
F88L |
unknown |
Het |
| Maml3 |
G |
A |
3: 51,764,173 (GRCm39) |
Q264* |
probably null |
Het |
| Ncoa4-ps |
T |
C |
12: 119,224,813 (GRCm39) |
|
noncoding transcript |
Het |
| Neu1 |
A |
T |
17: 35,153,301 (GRCm39) |
|
probably null |
Het |
| Nrp2 |
A |
G |
1: 62,783,477 (GRCm39) |
T193A |
probably benign |
Het |
| Or4c12b |
C |
G |
2: 89,647,522 (GRCm39) |
P278R |
probably damaging |
Het |
| P4ha1 |
A |
G |
10: 59,172,969 (GRCm39) |
T23A |
probably benign |
Het |
| Pgm1 |
A |
G |
4: 99,818,740 (GRCm39) |
I112V |
probably damaging |
Het |
| Ptprs |
A |
T |
17: 56,721,086 (GRCm39) |
V1385D |
probably damaging |
Het |
| Rasal2 |
A |
G |
1: 157,006,779 (GRCm39) |
S111P |
probably damaging |
Het |
| Serpinb13 |
A |
G |
1: 106,926,751 (GRCm39) |
N249S |
probably damaging |
Het |
| Sh3pxd2a |
T |
C |
19: 47,255,950 (GRCm39) |
T923A |
probably benign |
Het |
| Speg |
G |
A |
1: 75,405,762 (GRCm39) |
A2989T |
probably damaging |
Het |
| Stard9 |
C |
A |
2: 120,504,117 (GRCm39) |
S221R |
probably damaging |
Het |
| Tcp11l1 |
A |
T |
2: 104,512,237 (GRCm39) |
V465E |
possibly damaging |
Het |
| Ttn |
G |
A |
2: 76,768,653 (GRCm39) |
T2973I |
unknown |
Het |
| Vav3 |
C |
A |
3: 109,559,129 (GRCm39) |
Q110K |
probably benign |
Het |
| Xcr1 |
T |
C |
9: 123,684,940 (GRCm39) |
D274G |
probably benign |
Het |
| Zfp763 |
G |
A |
17: 33,237,892 (GRCm39) |
P418S |
probably damaging |
Het |
|
| Other mutations in Eif3i |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00981:Eif3i
|
APN |
4 |
129,488,862 (GRCm39) |
missense |
probably benign |
|
|
IGL02222:Eif3i
|
APN |
4 |
129,485,881 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL02975:Eif3i
|
APN |
4 |
129,489,105 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0783:Eif3i
|
UTSW |
4 |
129,485,869 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R0920:Eif3i
|
UTSW |
4 |
129,489,050 (GRCm39) |
splice site |
probably benign |
|
|
R1251:Eif3i
|
UTSW |
4 |
129,487,178 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2132:Eif3i
|
UTSW |
4 |
129,490,719 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2133:Eif3i
|
UTSW |
4 |
129,490,719 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3978:Eif3i
|
UTSW |
4 |
129,486,129 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4781:Eif3i
|
UTSW |
4 |
129,489,066 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4808:Eif3i
|
UTSW |
4 |
129,485,857 (GRCm39) |
missense |
probably benign |
0.15 |
|
R5096:Eif3i
|
UTSW |
4 |
129,494,237 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5335:Eif3i
|
UTSW |
4 |
129,488,979 (GRCm39) |
missense |
probably benign |
0.20 |
|
R6048:Eif3i
|
UTSW |
4 |
129,487,145 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7087:Eif3i
|
UTSW |
4 |
129,486,104 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7503:Eif3i
|
UTSW |
4 |
129,494,207 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8798:Eif3i
|
UTSW |
4 |
129,490,717 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9652:Eif3i
|
UTSW |
4 |
129,489,094 (GRCm39) |
missense |
probably benign |
|
|
RF012:Eif3i
|
UTSW |
4 |
129,485,872 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF019:Eif3i
|
UTSW |
4 |
129,494,258 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Eif3i
|
UTSW |
4 |
129,494,368 (GRCm39) |
unclassified |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGGGCAAACATCCAGATTCCAGAAG -3'
(R):5'- AGCAAGTGGCTCTAACTCCTCCTC -3'
Sequencing Primer
(F):5'- GTCATAGTTGGGAGAGAGAGC -3'
(R):5'- Actcctcctcctcctcctc -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation