Incidental Mutation 'R0920:Eif3i'
| ID |
82810 |
| 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 |
039070-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.966)
|
| Stock # |
R0920 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
129485767-129494441 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 129489050 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120776
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102593]
[ENSMUST00000135055]
|
| AlphaFold |
Q9QZD9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102593
|
| SMART Domains |
Protein: ENSMUSP00000099653
Gene: ENSMUSG00000028798
| 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
|
| SMART Domains |
Protein: ENSMUSP00000120776
Gene: ENSMUSG00000028798
| 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: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.9%
|
| Validation Efficiency |
100% (37/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm2 |
T |
C |
4: 144,287,696 (GRCm39) |
|
probably benign |
Het |
| Adamts16 |
A |
G |
13: 70,911,680 (GRCm39) |
|
probably benign |
Het |
| Adgra3 |
A |
G |
5: 50,118,503 (GRCm39) |
V1015A |
probably benign |
Het |
| Armc5 |
G |
T |
7: 127,839,491 (GRCm39) |
A270S |
probably damaging |
Het |
| Cacng1 |
A |
C |
11: 107,596,682 (GRCm39) |
|
probably benign |
Het |
| Ccdc33 |
T |
C |
9: 57,940,955 (GRCm39) |
D429G |
probably damaging |
Het |
| Ccdc88b |
G |
T |
19: 6,824,017 (GRCm39) |
A1412E |
probably benign |
Het |
| Cfap298 |
C |
T |
16: 90,724,267 (GRCm39) |
E125K |
probably damaging |
Het |
| Clock |
A |
T |
5: 76,378,167 (GRCm39) |
S578T |
possibly damaging |
Het |
| Crp |
T |
C |
1: 172,526,089 (GRCm39) |
F58S |
probably damaging |
Het |
| Dlg5 |
T |
A |
14: 24,226,465 (GRCm39) |
Q125L |
probably damaging |
Het |
| Gucy1a2 |
A |
C |
9: 3,759,472 (GRCm39) |
D426A |
probably damaging |
Het |
| Hpcal1 |
C |
T |
12: 17,841,098 (GRCm39) |
|
probably benign |
Het |
| Inf2 |
T |
A |
12: 112,576,721 (GRCm39) |
|
probably benign |
Het |
| Kdm7a |
A |
G |
6: 39,128,256 (GRCm39) |
L525P |
probably damaging |
Het |
| Kirrel3 |
A |
T |
9: 34,939,648 (GRCm39) |
I152F |
probably damaging |
Het |
| Knl1 |
T |
A |
2: 118,900,309 (GRCm39) |
I670K |
probably benign |
Het |
| Krt76 |
T |
C |
15: 101,800,874 (GRCm39) |
T141A |
possibly damaging |
Het |
| Ldb3 |
T |
C |
14: 34,289,460 (GRCm39) |
T249A |
probably benign |
Het |
| Magi3 |
A |
T |
3: 103,941,507 (GRCm39) |
|
probably null |
Het |
| Mfn1 |
A |
G |
3: 32,588,385 (GRCm39) |
|
probably null |
Het |
| Myb |
G |
T |
10: 21,002,133 (GRCm39) |
T736K |
possibly damaging |
Het |
| Myo5b |
A |
C |
18: 74,758,712 (GRCm39) |
K231T |
probably benign |
Het |
| Myt1l |
T |
A |
12: 29,936,138 (GRCm39) |
C909S |
unknown |
Het |
| Npas4 |
C |
A |
19: 5,036,344 (GRCm39) |
E607* |
probably null |
Het |
| Nphp3 |
A |
G |
9: 103,909,106 (GRCm39) |
N772S |
probably benign |
Het |
| Nup88 |
G |
T |
11: 70,847,146 (GRCm39) |
P288Q |
possibly damaging |
Het |
| Or2l13 |
A |
T |
16: 19,305,680 (GRCm39) |
I31F |
probably benign |
Het |
| Pknox1 |
C |
A |
17: 31,815,865 (GRCm39) |
Q240K |
probably damaging |
Het |
| Plce1 |
A |
C |
19: 38,724,965 (GRCm39) |
T1439P |
probably damaging |
Het |
| Ppp1r42 |
T |
A |
1: 10,069,750 (GRCm39) |
N104I |
probably damaging |
Het |
| Prkar2a |
T |
A |
9: 108,596,496 (GRCm39) |
|
probably benign |
Het |
| Stox2 |
C |
T |
8: 47,646,053 (GRCm39) |
R469Q |
probably damaging |
Het |
| Syna |
A |
G |
5: 134,587,956 (GRCm39) |
V331A |
probably benign |
Het |
| Vmn1r58 |
A |
T |
7: 5,413,788 (GRCm39) |
N147K |
probably benign |
Het |
| Zdhhc6 |
A |
T |
19: 55,300,133 (GRCm39) |
L148H |
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 |
|
R0683:Eif3i
|
UTSW |
4 |
129,487,328 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0783:Eif3i
|
UTSW |
4 |
129,485,869 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
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'- TGTGATCCCTACTACGTGTCCTCAG -3'
(R):5'- TCCGCCCTGTGATAGCATTAGACC -3'
Sequencing Primer
(F):5'- ACGTGTCCTCAGTGTCATCTG -3'
(R):5'- CCTGTGATAGCATTAGACCAGAGTG -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation