Incidental Mutation 'R8546:Eif3a'
| ID |
659664 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eif3a
|
| Ensembl Gene |
ENSMUSG00000024991 |
| Gene Name |
eukaryotic translation initiation factor 3, subunit A |
| Synonyms |
Eif3, Csma, Eif3s10, A830012B05Rik |
| MMRRC Submission |
068511-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.971)
|
| Stock # |
R8546 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
60749555-60779096 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 60755208 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 991
(N991K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025955
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025955]
|
| AlphaFold |
P23116 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000025955
AA Change: N991K
|
| SMART Domains |
Protein: ENSMUSP00000025955
Gene: ENSMUSG00000024991
AA Change: N991K
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
82 |
120 |
N/A |
INTRINSIC |
|
PINT
|
426 |
506 |
5.69e-18 |
SMART |
|
SCOP:d1f5aa2
|
563 |
711 |
5e-3 |
SMART |
|
coiled coil region
|
772 |
880 |
N/A |
INTRINSIC |
|
low complexity region
|
919 |
947 |
N/A |
INTRINSIC |
|
low complexity region
|
951 |
976 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
978 |
991 |
1.01e-8 |
PROSPERO |
|
low complexity region
|
993 |
1007 |
N/A |
INTRINSIC |
|
low complexity region
|
1013 |
1027 |
N/A |
INTRINSIC |
|
low complexity region
|
1033 |
1057 |
N/A |
INTRINSIC |
|
low complexity region
|
1064 |
1089 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1090 |
1111 |
6.2e-12 |
PROSPERO |
|
internal_repeat_2
|
1099 |
1112 |
1.01e-8 |
PROSPERO |
|
internal_repeat_1
|
1110 |
1131 |
6.2e-12 |
PROSPERO |
|
low complexity region
|
1146 |
1173 |
N/A |
INTRINSIC |
|
low complexity region
|
1176 |
1206 |
N/A |
INTRINSIC |
|
low complexity region
|
1221 |
1260 |
N/A |
INTRINSIC |
|
low complexity region
|
1265 |
1297 |
N/A |
INTRINSIC |
|
low complexity region
|
1301 |
1314 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(36) : Targeted, other(2) Gene trapped(34) |
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot1 |
T |
C |
12: 84,064,139 (GRCm39) |
S416P |
probably benign |
Het |
| Adcy9 |
G |
T |
16: 4,236,769 (GRCm39) |
A214E |
probably benign |
Het |
| Atp11a |
T |
A |
8: 12,901,083 (GRCm39) |
W971R |
probably damaging |
Het |
| Axl |
C |
T |
7: 25,473,588 (GRCm39) |
R346H |
probably benign |
Het |
| Bltp3b |
A |
G |
10: 89,630,397 (GRCm39) |
N399S |
probably damaging |
Het |
| Bsn |
G |
A |
9: 107,988,651 (GRCm39) |
A2367V |
probably benign |
Het |
| Cabin1 |
T |
C |
10: 75,578,101 (GRCm39) |
D532G |
probably damaging |
Het |
| Cdh20 |
A |
G |
1: 104,861,769 (GRCm39) |
|
probably benign |
Het |
| Cfap97d1 |
A |
G |
11: 101,881,687 (GRCm39) |
R77G |
probably damaging |
Het |
| Clca3b |
T |
A |
3: 144,533,158 (GRCm39) |
S625C |
probably damaging |
Het |
| Col3a1 |
G |
A |
1: 45,380,099 (GRCm39) |
|
probably benign |
Het |
| Ctu2 |
T |
C |
8: 123,206,102 (GRCm39) |
L281P |
probably damaging |
Het |
| Cyb5a |
G |
A |
18: 84,889,759 (GRCm39) |
|
probably null |
Het |
| Cyb5rl |
T |
A |
4: 106,925,923 (GRCm39) |
V35D |
probably damaging |
Het |
| Dnah17 |
A |
G |
11: 118,015,101 (GRCm39) |
F381S |
probably benign |
Het |
| Eif6 |
A |
G |
2: 155,668,420 (GRCm39) |
|
probably benign |
Het |
| Fahd1 |
T |
C |
17: 25,069,057 (GRCm39) |
M7V |
possibly damaging |
Het |
| Fam171b |
A |
G |
2: 83,685,795 (GRCm39) |
T160A |
probably damaging |
Het |
| Fnip1 |
A |
G |
11: 54,400,826 (GRCm39) |
E1075G |
probably benign |
Het |
| Fras1 |
G |
A |
5: 96,857,825 (GRCm39) |
V2040I |
probably benign |
Het |
| Gjc2 |
G |
T |
11: 59,067,182 (GRCm39) |
D433E |
unknown |
Het |
| H2bc13 |
G |
A |
13: 21,900,042 (GRCm39) |
T91M |
probably damaging |
Het |
| Igsf9b |
T |
C |
9: 27,244,426 (GRCm39) |
S794P |
possibly damaging |
Het |
| Irx6 |
A |
T |
8: 93,405,264 (GRCm39) |
R377S |
probably benign |
Het |
| Khnyn |
A |
G |
14: 56,123,275 (GRCm39) |
T10A |
probably benign |
Het |
| Kmt2e |
A |
T |
5: 23,686,242 (GRCm39) |
H389L |
probably damaging |
Het |
| Lin7c |
A |
G |
2: 109,726,716 (GRCm39) |
I122V |
probably null |
Het |
| Lonp1 |
G |
A |
17: 56,933,702 (GRCm39) |
P58S |
probably benign |
Het |
| Loxl4 |
T |
C |
19: 42,596,027 (GRCm39) |
H142R |
probably benign |
Het |
| Mcm6 |
C |
T |
1: 128,273,685 (GRCm39) |
E382K |
possibly damaging |
Het |
| Mettl2 |
T |
A |
11: 105,022,399 (GRCm39) |
N196K |
probably benign |
Het |
| Myo7b |
T |
C |
18: 32,123,201 (GRCm39) |
E712G |
probably benign |
Het |
| Ncam2 |
C |
T |
16: 81,314,419 (GRCm39) |
T465I |
probably benign |
Het |
| Or7e169 |
T |
A |
9: 19,757,685 (GRCm39) |
T77S |
probably damaging |
Het |
| Padi4 |
T |
C |
4: 140,484,841 (GRCm39) |
E340G |
probably damaging |
Het |
| Patj |
T |
A |
4: 98,325,634 (GRCm39) |
S490R |
probably benign |
Het |
| Pkd1l3 |
G |
A |
8: 110,393,615 (GRCm39) |
S1981N |
possibly damaging |
Het |
| Poll |
T |
A |
19: 45,546,416 (GRCm39) |
D208V |
probably damaging |
Het |
| Polr3f |
A |
G |
2: 144,374,284 (GRCm39) |
D64G |
probably damaging |
Het |
| Prkdc |
A |
G |
16: 15,480,899 (GRCm39) |
Y340C |
probably damaging |
Het |
| Prmt6 |
C |
T |
3: 110,158,034 (GRCm39) |
R85Q |
possibly damaging |
Het |
| Rgl3 |
T |
C |
9: 21,899,156 (GRCm39) |
K140R |
probably benign |
Het |
| Rhoj |
A |
G |
12: 75,422,124 (GRCm39) |
T61A |
probably benign |
Het |
| Skor1 |
T |
C |
9: 63,049,570 (GRCm39) |
D795G |
probably damaging |
Het |
| Slc28a2b |
A |
T |
2: 122,353,235 (GRCm39) |
M472L |
probably benign |
Het |
| Tekt5 |
A |
G |
16: 10,175,877 (GRCm39) |
V556A |
probably benign |
Het |
| Tlr1 |
T |
A |
5: 65,084,374 (GRCm39) |
I68F |
probably damaging |
Het |
| Tnni3k |
G |
T |
3: 154,498,444 (GRCm39) |
N798K |
probably benign |
Het |
| Tuft1 |
T |
A |
3: 94,529,420 (GRCm39) |
E227D |
probably benign |
Het |
| Tulp1 |
T |
C |
17: 28,582,710 (GRCm39) |
K146R |
probably benign |
Het |
| Usp24 |
G |
A |
4: 106,259,326 (GRCm39) |
A1616T |
probably benign |
Het |
| Ythdc1 |
A |
T |
5: 86,974,607 (GRCm39) |
K452N |
possibly damaging |
Het |
| Zscan4-ps3 |
T |
A |
7: 11,346,697 (GRCm39) |
H244Q |
possibly damaging |
Het |
|
| Other mutations in Eif3a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00485:Eif3a
|
APN |
19 |
60,758,328 (GRCm39) |
missense |
unknown |
|
|
IGL00981:Eif3a
|
APN |
19 |
60,755,049 (GRCm39) |
missense |
unknown |
|
|
IGL01650:Eif3a
|
APN |
19 |
60,762,434 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01926:Eif3a
|
APN |
19 |
60,758,399 (GRCm39) |
missense |
unknown |
|
|
IGL02100:Eif3a
|
APN |
19 |
60,755,442 (GRCm39) |
splice site |
probably benign |
|
|
IGL02316:Eif3a
|
APN |
19 |
60,760,076 (GRCm39) |
splice site |
probably benign |
|
|
IGL02444:Eif3a
|
APN |
19 |
60,762,045 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL02552:Eif3a
|
APN |
19 |
60,751,664 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02797:Eif3a
|
APN |
19 |
60,761,164 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03108:Eif3a
|
APN |
19 |
60,770,747 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
FR4304:Eif3a
|
UTSW |
19 |
60,763,728 (GRCm39) |
critical splice donor site |
probably benign |
|
|
FR4548:Eif3a
|
UTSW |
19 |
60,763,729 (GRCm39) |
critical splice donor site |
probably benign |
|
|
FR4737:Eif3a
|
UTSW |
19 |
60,763,727 (GRCm39) |
critical splice donor site |
probably benign |
|
|
FR4976:Eif3a
|
UTSW |
19 |
60,763,729 (GRCm39) |
critical splice donor site |
probably benign |
|
|
G5538:Eif3a
|
UTSW |
19 |
60,770,340 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0054:Eif3a
|
UTSW |
19 |
60,755,264 (GRCm39) |
missense |
unknown |
|
|
R0054:Eif3a
|
UTSW |
19 |
60,755,264 (GRCm39) |
missense |
unknown |
|
|
R1483:Eif3a
|
UTSW |
19 |
60,757,164 (GRCm39) |
missense |
unknown |
|
|
R1636:Eif3a
|
UTSW |
19 |
60,770,343 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1748:Eif3a
|
UTSW |
19 |
60,755,236 (GRCm39) |
missense |
unknown |
|
|
R1857:Eif3a
|
UTSW |
19 |
60,770,635 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1858:Eif3a
|
UTSW |
19 |
60,770,635 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1993:Eif3a
|
UTSW |
19 |
60,769,954 (GRCm39) |
missense |
probably benign |
0.19 |
|
R2034:Eif3a
|
UTSW |
19 |
60,750,568 (GRCm39) |
unclassified |
probably benign |
|
|
R2099:Eif3a
|
UTSW |
19 |
60,752,551 (GRCm39) |
unclassified |
probably benign |
|
|
R2140:Eif3a
|
UTSW |
19 |
60,763,832 (GRCm39) |
splice site |
probably benign |
|
|
R2434:Eif3a
|
UTSW |
19 |
60,752,488 (GRCm39) |
unclassified |
probably benign |
|
|
R2940:Eif3a
|
UTSW |
19 |
60,762,115 (GRCm39) |
missense |
probably benign |
0.22 |
|
R4630:Eif3a
|
UTSW |
19 |
60,766,424 (GRCm39) |
missense |
probably benign |
0.41 |
|
R4630:Eif3a
|
UTSW |
19 |
60,758,366 (GRCm39) |
missense |
unknown |
|
|
R4926:Eif3a
|
UTSW |
19 |
60,751,656 (GRCm39) |
unclassified |
probably benign |
|
|
R5366:Eif3a
|
UTSW |
19 |
60,767,971 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6003:Eif3a
|
UTSW |
19 |
60,755,319 (GRCm39) |
missense |
unknown |
|
|
R6082:Eif3a
|
UTSW |
19 |
60,760,568 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6256:Eif3a
|
UTSW |
19 |
60,759,464 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R7056:Eif3a
|
UTSW |
19 |
60,751,500 (GRCm39) |
splice site |
probably null |
|
|
R7365:Eif3a
|
UTSW |
19 |
60,755,082 (GRCm39) |
missense |
unknown |
|
|
R7922:Eif3a
|
UTSW |
19 |
60,764,280 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8076:Eif3a
|
UTSW |
19 |
60,762,363 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8169:Eif3a
|
UTSW |
19 |
60,750,628 (GRCm39) |
missense |
unknown |
|
|
R8246:Eif3a
|
UTSW |
19 |
60,767,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8474:Eif3a
|
UTSW |
19 |
60,767,929 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R8964:Eif3a
|
UTSW |
19 |
60,751,630 (GRCm39) |
missense |
unknown |
|
|
R9071:Eif3a
|
UTSW |
19 |
60,751,634 (GRCm39) |
missense |
unknown |
|
|
R9290:Eif3a
|
UTSW |
19 |
60,765,221 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9484:Eif3a
|
UTSW |
19 |
60,755,006 (GRCm39) |
missense |
unknown |
|
|
R9780:Eif3a
|
UTSW |
19 |
60,766,398 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0028:Eif3a
|
UTSW |
19 |
60,770,340 (GRCm39) |
missense |
probably damaging |
0.97 |
|
X0066:Eif3a
|
UTSW |
19 |
60,750,731 (GRCm39) |
unclassified |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATCATCAGCATTCCGCCAGG -3'
(R):5'- CCTCACAGGAGAGATGAGGATC -3'
Sequencing Primer
(F):5'- TGACCGTTCATCATCAGCAC -3'
(R):5'- TGAGGATCGGCTGAGGC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation