Mutagenetix > Incidental Mutation

Incidental Mutation 'G5538:Eif3a'

532

Institutional Source

Beutler Lab

Gene Symbol

Eif3a

Ensembl Gene

ENSMUSG00000024991

Gene Name

eukaryotic translation initiation factor 3, subunit A

Synonyms

Eif3, Csma, Eif3s10, A830012B05Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.971) question?

Stock #

G5538 (G3) of strain frizz

Quality Score

Status

Validated

Chromosome

Chromosomal Location

60749555-60779096 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 60770340 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 120 (N120K)

Ref Sequence

ENSEMBL: ENSMUSP00000025955 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025955]

AlphaFold

P23116

Predicted Effect

probably damaging
Transcript: ENSMUST00000025955
AA Change: N120K

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000025955
Gene: ENSMUSG00000024991
AA Change: N120K

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

Meta Mutation Damage Score

0.1220

Coding Region Coverage

1x: 75.9%
3x: 46.5%

Het Detection Efficiency

20.9%

Validation Efficiency

82% (69/84)

Allele List at MGI

All alleles(36) : Targeted, other(2) Gene trapped(34)

Other mutations in this stock

Total: 2 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Pikfyve	T	C	1: 65,242,075 (GRCm39)	W272R	probably damaging	Homo
Polr3b	T	A	10: 84,467,658 (GRCm39)	N79K	probably benign	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
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
R8546:Eif3a	UTSW	19	60,755,208 (GRCm39)	missense	unknown
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

Nature of Mutation

DNA sequencing using the SOLiD technique identified a T to A transversion at position 536 of the Eif3s10 transcript in exon 3 of 22 total exons. The mutated nucleotide causes an asparagine to lysine substitution at amino acid 120 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).

Protein Function and Prediction

The Eif3a gene encodes a 1344 amino acid component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis. The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF-2:GTP:methionyl-tRNAi and eIF-5 to form the 43S preinitiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of posttermination ribosomal complexes and subsequently prevents premature joining of the 40S and 60S ribosomal subunits prior to initiation.The protein contains a proteasome component (PCI) domain at amino acids 365-495 and a region located at residues 924-1133 that contains tandem repeats of approximately ten amino acids (Uniprot P23116).

The N120K change is predicted to be possibly damaging by the PolyPhen program.

Posted On

2010-11-10