Mutagenetix > Incidental Mutation

Incidental Mutation 'R6821:Eif3d'

537647

Institutional Source

Beutler Lab

Gene Symbol

Eif3d

Ensembl Gene

ENSMUSG00000016554

Gene Name

eukaryotic translation initiation factor 3, subunit D

Synonyms

66/67kDa, eIF3p66, mouse translation initiation factor eIF3 p66, Eif3s7

MMRRC Submission

044933-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R6821 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

77843201-77855006 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 77845855 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 389 (S389P)

Ref Sequence

ENSEMBL: ENSMUSP00000098053 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000016696] [ENSMUST00000100484] [ENSMUST00000117725] [ENSMUST00000230419]

AlphaFold

O70194

Predicted Effect

probably benign
Transcript: ENSMUST00000016696

SMART Domains

Protein: ENSMUSP00000016696
Gene: ENSMUSG00000016552

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Pfam:Pyr_redox_2	22	243	2.9e-11	PFAM
Pfam:Pyr_redox_3	25	240	9.3e-35	PFAM
Pfam:NAD_binding_8	26	84	3.3e-6	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000100484
AA Change: S389P

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000098053
Gene: ENSMUSG00000016554
AA Change: S389P

Domain	Start	End	E-Value	Type
Pfam:eIF-3_zeta	4	521	6.3e-220	PFAM
low complexity region	530	547	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000117725

SMART Domains

Protein: ENSMUSP00000113403
Gene: ENSMUSG00000016552

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Pfam:Pyr_redox_2	23	478	3.4e-9	PFAM
Pfam:Pyr_redox_3	25	240	6.2e-37	PFAM
Pfam:NAD_binding_8	26	90	4.8e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000230419

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

97% (63/65)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Eukaryotic translation initiation factor-3 (eIF3), the largest of the eIFs, is a multiprotein complex composed of at least ten nonidentical subunits. The complex binds to the 40S ribosome and helps maintain the 40S and 60S ribosomal subunits in a dissociated state. It is also thought to play a role in the formation of the 40S initiation complex by interacting with the ternary complex of eIF2/GTP/methionyl-tRNA, and by promoting mRNA binding. The protein encoded by this gene is the major RNA binding subunit of the eIF3 complex. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl5	T	C	19: 55,277,268 (GRCm39)	I417T	probably benign	Het
Adamts12	A	C	15: 11,152,134 (GRCm39)	K208T	probably benign	Het
Adamts8	T	A	9: 30,867,922 (GRCm39)	L582Q	probably benign	Het
Aim2	C	G	1: 173,291,546 (GRCm39)	T317R	probably damaging	Het
Ano9	A	T	7: 140,687,169 (GRCm39)	F357I	possibly damaging	Het
Aox3	T	C	1: 58,189,547 (GRCm39)	V416A	probably benign	Het
Arhgap21	A	C	2: 20,853,659 (GRCm39)	F1901C	probably benign	Het
Atp8b2	A	T	3: 89,855,480 (GRCm39)	F506I	probably damaging	Het
Atp9b	A	T	18: 80,890,463 (GRCm39)	L292H	probably damaging	Het
C2cd5	A	G	6: 142,963,712 (GRCm39)	V891A	probably damaging	Het
Ccnt2	T	C	1: 127,731,072 (GRCm39)	S650P	probably damaging	Het
Cdhr3	T	A	12: 33,085,044 (GRCm39)	N791Y	probably damaging	Het
Cmtm1	TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG	TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG	8: 105,036,334 (GRCm39)		probably null	Het
D630003M21Rik	A	C	2: 158,046,694 (GRCm39)	L761R	probably damaging	Het
Draxin	G	T	4: 148,200,148 (GRCm39)	Q101K	possibly damaging	Het
Dtx3l	A	T	16: 35,753,430 (GRCm39)	L392Q	probably damaging	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Epha4	T	C	1: 77,359,582 (GRCm39)	N757S	possibly damaging	Het
Fam228b	T	C	12: 4,813,083 (GRCm39)	I96V	probably benign	Het
Gars1	A	G	6: 55,056,323 (GRCm39)	E728G	probably benign	Het
Gldn	T	C	9: 54,246,054 (GRCm39)	M535T	probably benign	Het
Gm47985	A	G	1: 151,058,787 (GRCm39)	T143A	possibly damaging	Het
Gpr6	T	C	10: 40,947,004 (GRCm39)	T193A	probably benign	Het
Grik5	C	T	7: 24,745,780 (GRCm39)	R431Q	possibly damaging	Het
Hecw1	T	A	13: 14,438,719 (GRCm39)	Y1315F	probably damaging	Het
Hs3st2	A	G	7: 121,099,745 (GRCm39)	D197G	possibly damaging	Het
Igsf9	T	C	1: 172,312,060 (GRCm39)	I2T	probably benign	Het
Ints9	A	G	14: 65,274,907 (GRCm39)	E621G	probably benign	Het
Itm2b	G	A	14: 73,603,907 (GRCm39)	P47S	probably benign	Het
Map10	A	G	8: 126,397,138 (GRCm39)	K177R	probably benign	Het
Mdh2	T	C	5: 135,818,525 (GRCm39)	F260S	possibly damaging	Het
Mtmr11	A	G	3: 96,077,723 (GRCm39)	T573A	probably benign	Het
Mycbp2	A	T	14: 103,376,845 (GRCm39)	I3812N	probably damaging	Het
Myo15a	A	G	11: 60,415,301 (GRCm39)	N3403S	probably damaging	Het
Nvl	G	A	1: 180,954,535 (GRCm39)	Q343*	probably null	Het
Ocstamp	A	T	2: 165,239,842 (GRCm39)	S115T	probably benign	Het
Or51ai2	A	T	7: 103,586,793 (GRCm39)	I69F	probably benign	Het
Otoa	G	A	7: 120,692,070 (GRCm39)		probably null	Het
Pcdhb20	A	T	18: 37,639,175 (GRCm39)	N567I	probably damaging	Het
Pgm5	A	T	19: 24,839,011 (GRCm39)	V48E	possibly damaging	Het
Phlpp1	T	A	1: 106,314,174 (GRCm39)	S1182R	probably damaging	Het
Pik3r4	T	A	9: 105,527,805 (GRCm39)	L386Q	probably damaging	Het
Pop1	A	G	15: 34,508,785 (GRCm39)	K287E	possibly damaging	Het
Pramel23	A	T	4: 143,425,874 (GRCm39)	L23*	probably null	Het
Rad54b	A	G	4: 11,612,777 (GRCm39)	D803G	probably damaging	Het
Rbm26	G	A	14: 105,354,400 (GRCm39)		probably benign	Het
Rspry1	C	T	8: 95,362,059 (GRCm39)	Q113*	probably null	Het
Siah2	T	A	3: 58,599,191 (GRCm39)	S16C	probably benign	Het
Sirpa	C	A	2: 129,472,017 (GRCm39)	D481E	probably damaging	Het
Slc38a7	A	C	8: 96,571,548 (GRCm39)	D227E	probably benign	Het
Smc5	A	G	19: 23,220,151 (GRCm39)	V438A	probably benign	Het
Spast	A	G	17: 74,658,957 (GRCm39)	E108G	probably benign	Het
Speg	A	G	1: 75,394,547 (GRCm39)	E1752G	possibly damaging	Het
Tanc2	T	G	11: 105,777,316 (GRCm39)		probably null	Het
Tgfbi	T	C	13: 56,773,950 (GRCm39)	I243T	possibly damaging	Het
Tlr12	T	C	4: 128,510,685 (GRCm39)	S522G	possibly damaging	Het
Trav14-3	A	G	14: 54,000,929 (GRCm39)	I47V	probably benign	Het
Tsc22d4	T	C	5: 137,760,906 (GRCm39)	V109A	possibly damaging	Het
Ttl	G	A	2: 128,910,835 (GRCm39)	R73H	probably damaging	Het
Usp34	C	T	11: 23,317,491 (GRCm39)	T850I	possibly damaging	Het
Vdac3	T	C	8: 23,070,491 (GRCm39)	Y140C	probably damaging	Het
Vmn2r120	T	C	17: 57,843,659 (GRCm39)	R62G	probably benign	Het
Vmn2r17	T	A	5: 109,577,331 (GRCm39)	Y461N	probably damaging	Het
Wt1	T	A	2: 105,002,612 (GRCm39)	F493I	probably damaging	Het

Other mutations in Eif3d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00840:Eif3d	APN	15	77,846,069 (GRCm39)	missense	probably benign
IGL01082:Eif3d	APN	15	77,843,943 (GRCm39)	missense	probably damaging	0.99
IGL01113:Eif3d	APN	15	77,847,515 (GRCm39)	missense	probably damaging	1.00
IGL01865:Eif3d	APN	15	77,851,546 (GRCm39)	missense	probably benign	0.34
IGL03070:Eif3d	APN	15	77,843,843 (GRCm39)	missense	probably damaging	1.00
IGL03277:Eif3d	APN	15	77,843,849 (GRCm39)	missense	possibly damaging	0.50
R0049:Eif3d	UTSW	15	77,843,924 (GRCm39)	missense	probably benign	0.01
R0049:Eif3d	UTSW	15	77,843,924 (GRCm39)	missense	probably benign	0.01
R0325:Eif3d	UTSW	15	77,852,420 (GRCm39)	missense	probably damaging	1.00
R1346:Eif3d	UTSW	15	77,852,754 (GRCm39)	missense	probably damaging	1.00
R2219:Eif3d	UTSW	15	77,849,142 (GRCm39)	missense	probably benign	0.35
R2993:Eif3d	UTSW	15	77,845,905 (GRCm39)	missense	possibly damaging	0.85
R3796:Eif3d	UTSW	15	77,852,769 (GRCm39)	missense	probably damaging	1.00
R3797:Eif3d	UTSW	15	77,852,769 (GRCm39)	missense	probably damaging	1.00
R3839:Eif3d	UTSW	15	77,848,300 (GRCm39)	missense	probably benign	0.30
R4690:Eif3d	UTSW	15	77,851,516 (GRCm39)	missense	probably benign	0.06
R4828:Eif3d	UTSW	15	77,844,229 (GRCm39)	nonsense	probably null
R5411:Eif3d	UTSW	15	77,843,887 (GRCm39)	missense	probably damaging	1.00
R5558:Eif3d	UTSW	15	77,846,047 (GRCm39)	missense	probably damaging	1.00
R6764:Eif3d	UTSW	15	77,845,886 (GRCm39)	missense	probably damaging	1.00
R7176:Eif3d	UTSW	15	77,847,434 (GRCm39)	missense	probably damaging	1.00
R7322:Eif3d	UTSW	15	77,845,876 (GRCm39)	missense	probably benign	0.36
R7616:Eif3d	UTSW	15	77,845,886 (GRCm39)	missense	probably damaging	1.00
R8199:Eif3d	UTSW	15	77,844,292 (GRCm39)	missense	possibly damaging	0.66
R9457:Eif3d	UTSW	15	77,843,894 (GRCm39)	missense	probably benign	0.00
R9553:Eif3d	UTSW	15	77,843,837 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- CAAGATCAGATGCGGAGACC -3'
(R):5'- AAGAATGAGATCGCCTCCGTC -3'

Sequencing Primer
(F):5'- CCAGAATGAATAGACCAAAGTACCGG -3'
(R):5'- TCCGTCGCTTACCGGTAAG -3'

Posted On

2018-10-18