Incidental Mutation 'R8440:Eif3l'
| ID |
660402 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eif3l
|
| Ensembl Gene |
ENSMUSG00000033047 |
| Gene Name |
eukaryotic translation initiation factor 3, subunit L |
| Synonyms |
Eif3s6ip, HSP-66Y, 0610011H21Rik, Eif3eip, PAF67, D15N1e |
| MMRRC Submission |
067884-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.964)
|
| Stock # |
R8440 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
78959423-78978600 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 78961120 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 58
(Y58H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038839
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040518]
[ENSMUST00000229310]
|
| AlphaFold |
Q8QZY1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000040518
AA Change: Y58H
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000038839
Gene: ENSMUSG00000033047
AA Change: Y58H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
24 |
N/A |
INTRINSIC |
|
Pfam:Paf67
|
152 |
550 |
7e-179 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000229310
AA Change: Y34H
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229338
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
97% (38/39) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ak5 |
G |
C |
3: 152,209,680 (GRCm39) |
|
probably null |
Het |
| Bbs9 |
T |
A |
9: 22,479,046 (GRCm39) |
V163E |
probably damaging |
Het |
| Bsn |
G |
A |
9: 107,988,651 (GRCm39) |
A2367V |
probably benign |
Het |
| Cbr3 |
T |
C |
16: 93,480,421 (GRCm39) |
I70T |
probably damaging |
Het |
| Chka |
T |
C |
19: 3,943,375 (GRCm39) |
Y426H |
probably damaging |
Het |
| Cpq |
T |
A |
15: 33,213,341 (GRCm39) |
M120K |
possibly damaging |
Het |
| Dcaf1 |
T |
A |
9: 106,725,073 (GRCm39) |
C520S |
possibly damaging |
Het |
| Egfr |
T |
C |
11: 16,859,831 (GRCm39) |
Y1018H |
probably damaging |
Het |
| Frmd8 |
T |
C |
19: 5,915,202 (GRCm39) |
Y234C |
possibly damaging |
Het |
| Fus |
T |
C |
7: 127,568,998 (GRCm39) |
Y50H |
unknown |
Het |
| Hmcn1 |
T |
A |
1: 150,570,671 (GRCm39) |
Q2164L |
probably damaging |
Het |
| Hmcn2 |
C |
A |
2: 31,281,088 (GRCm39) |
L1867I |
probably benign |
Het |
| Hsd11b1 |
T |
C |
1: 192,904,420 (GRCm39) |
K260E |
probably benign |
Het |
| Igkv4-91 |
C |
T |
6: 68,745,556 (GRCm39) |
G114D |
probably benign |
Het |
| Inpp4b |
G |
A |
8: 82,768,524 (GRCm39) |
E678K |
probably damaging |
Het |
| Kifc3 |
G |
T |
8: 95,836,422 (GRCm39) |
P113Q |
possibly damaging |
Het |
| Lgi4 |
T |
A |
7: 30,760,049 (GRCm39) |
|
probably null |
Het |
| Map1s |
A |
G |
8: 71,365,163 (GRCm39) |
N107D |
probably damaging |
Het |
| Meiob |
G |
T |
17: 25,037,302 (GRCm39) |
C60F |
probably benign |
Het |
| Nedd4l |
G |
T |
18: 65,022,126 (GRCm39) |
|
probably null |
Het |
| Omp |
A |
G |
7: 97,794,253 (GRCm39) |
F125L |
probably damaging |
Het |
| Or1ad6 |
T |
C |
11: 50,860,024 (GRCm39) |
Y60H |
probably damaging |
Het |
| Or51h1 |
G |
A |
7: 102,308,275 (GRCm39) |
M82I |
probably damaging |
Het |
| Or5a1 |
C |
T |
19: 12,097,308 (GRCm39) |
C244Y |
probably damaging |
Het |
| Pcdha3 |
T |
C |
18: 37,080,914 (GRCm39) |
V552A |
probably damaging |
Het |
| Plek |
T |
C |
11: 16,945,276 (GRCm39) |
D18G |
possibly damaging |
Het |
| Ppip5k2 |
T |
C |
1: 97,675,276 (GRCm39) |
T376A |
probably damaging |
Het |
| Prkdc |
CAAA |
CAAAA |
16: 15,653,022 (GRCm39) |
3833 |
probably null |
Het |
| Rabgap1 |
T |
C |
2: 37,432,692 (GRCm39) |
|
probably null |
Het |
| Rtn1 |
T |
A |
12: 72,270,173 (GRCm39) |
I113F |
probably damaging |
Het |
| Ssu2 |
T |
A |
6: 112,364,950 (GRCm39) |
D4V |
probably benign |
Het |
| St6galnac2 |
T |
C |
11: 116,568,374 (GRCm39) |
H363R |
probably damaging |
Het |
| Stk19 |
T |
C |
17: 35,055,456 (GRCm39) |
S60G |
possibly damaging |
Het |
| Suco |
G |
A |
1: 161,679,907 (GRCm39) |
T332I |
probably damaging |
Het |
| Trbv20 |
T |
A |
6: 41,165,892 (GRCm39) |
Y106N |
probably damaging |
Het |
| Uck1 |
C |
A |
2: 32,150,153 (GRCm39) |
|
probably benign |
Het |
| Vmn1r128 |
G |
A |
7: 21,083,745 (GRCm39) |
V150I |
probably benign |
Het |
| Vmn2r54 |
A |
T |
7: 12,350,013 (GRCm39) |
V523E |
possibly damaging |
Het |
| Vmn2r61 |
A |
T |
7: 41,916,080 (GRCm39) |
E231V |
probably benign |
Het |
| Xkr9 |
A |
G |
1: 13,771,603 (GRCm39) |
D373G |
probably benign |
Het |
| Zfp592 |
G |
C |
7: 80,691,271 (GRCm39) |
S1150T |
possibly damaging |
Het |
|
| Other mutations in Eif3l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01133:Eif3l
|
APN |
15 |
78,961,120 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL02457:Eif3l
|
APN |
15 |
78,962,296 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02658:Eif3l
|
APN |
15 |
78,961,142 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02689:Eif3l
|
APN |
15 |
78,970,719 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL02797:Eif3l
|
APN |
15 |
78,959,477 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02824:Eif3l
|
APN |
15 |
78,960,023 (GRCm39) |
splice site |
probably null |
|
|
IGL02957:Eif3l
|
APN |
15 |
78,974,028 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03352:Eif3l
|
APN |
15 |
78,961,251 (GRCm39) |
unclassified |
probably benign |
|
|
R0528:Eif3l
|
UTSW |
15 |
78,973,809 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0550:Eif3l
|
UTSW |
15 |
78,961,067 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0751:Eif3l
|
UTSW |
15 |
78,959,966 (GRCm39) |
splice site |
probably null |
|
|
R1101:Eif3l
|
UTSW |
15 |
78,959,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1184:Eif3l
|
UTSW |
15 |
78,959,966 (GRCm39) |
splice site |
probably null |
|
|
R1585:Eif3l
|
UTSW |
15 |
78,968,381 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R1895:Eif3l
|
UTSW |
15 |
78,973,677 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R2442:Eif3l
|
UTSW |
15 |
78,969,807 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4865:Eif3l
|
UTSW |
15 |
78,965,849 (GRCm39) |
nonsense |
probably null |
|
|
R5092:Eif3l
|
UTSW |
15 |
78,968,354 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5239:Eif3l
|
UTSW |
15 |
78,973,995 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5328:Eif3l
|
UTSW |
15 |
78,977,561 (GRCm39) |
nonsense |
probably null |
|
|
R6575:Eif3l
|
UTSW |
15 |
78,970,778 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R6624:Eif3l
|
UTSW |
15 |
78,974,129 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6875:Eif3l
|
UTSW |
15 |
78,969,760 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7484:Eif3l
|
UTSW |
15 |
78,968,336 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7838:Eif3l
|
UTSW |
15 |
78,973,799 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7841:Eif3l
|
UTSW |
15 |
78,973,779 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8085:Eif3l
|
UTSW |
15 |
78,961,066 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8296:Eif3l
|
UTSW |
15 |
78,963,220 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8932:Eif3l
|
UTSW |
15 |
78,960,006 (GRCm39) |
nonsense |
probably null |
|
|
R9011:Eif3l
|
UTSW |
15 |
78,973,725 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9029:Eif3l
|
UTSW |
15 |
78,968,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9324:Eif3l
|
UTSW |
15 |
78,978,423 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9473:Eif3l
|
UTSW |
15 |
78,970,704 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9614:Eif3l
|
UTSW |
15 |
78,978,423 (GRCm39) |
missense |
probably benign |
0.11 |
|
| Predicted Primers |
PCR Primer
(F):5'- GATGACGGCTGACCTTAGAC -3'
(R):5'- AGGAGCTGCATCATCTTGC -3'
Sequencing Primer
(F):5'- CTGGGACTGAGACTGAACTCTATC -3'
(R):5'- GCATCATCTTGCAGGCCC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation