Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02251:Eif3j2'

286391

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Eif3j2

Ensembl Gene

ENSMUSG00000043424

Gene Name

eukaryotic translation initiation factor 3, subunit J2

Synonyms

Gm9781

Accession Numbers

Essential gene?

Probably essential (E-score: 0.916) question?

Stock #

IGL02251

Quality Score

Status

Chromosome

Chromosomal Location

43608483-43610861 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 43610431 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 127 (K127N)

Ref Sequence

ENSEMBL: ENSMUSP00000054421 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057110]

AlphaFold

Q66JS6

Predicted Effect

probably damaging
Transcript: ENSMUST00000057110
AA Change: K127N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000054421
Gene: ENSMUSG00000043424
AA Change: K127N

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
Pfam:eIF3_subunit	16	263	7.7e-66	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175467

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180600

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	A	G	7: 45,626,840 (GRCm39)	C1406R	probably damaging	Het
Acp2	T	A	2: 91,038,678 (GRCm39)		probably null	Het
Antxr2	A	C	5: 98,125,454 (GRCm39)		probably null	Het
Arhgef11	C	T	3: 87,590,854 (GRCm39)	R32C	probably damaging	Het
Armc6	A	T	8: 70,677,870 (GRCm39)	L153*	probably null	Het
Btnl2	G	T	17: 34,582,213 (GRCm39)	G260*	probably null	Het
Ccnf	A	G	17: 24,445,513 (GRCm39)	S551P	probably benign	Het
Cdh19	A	G	1: 110,882,382 (GRCm39)	S37P	probably benign	Het
Cntnap3	T	A	13: 64,909,850 (GRCm39)	T752S	probably damaging	Het
Crispld1	A	G	1: 17,799,064 (GRCm39)	M62V	probably benign	Het
Ddr1	G	A	17: 35,994,372 (GRCm39)	A801V	probably damaging	Het
Dner	G	T	1: 84,361,747 (GRCm39)	Q621K	probably damaging	Het
Dph6	A	G	2: 114,366,004 (GRCm39)		probably null	Het
Dpp3	T	G	19: 4,968,343 (GRCm39)	H243P	probably benign	Het
Esrp1	G	A	4: 11,361,202 (GRCm39)	R315C	probably damaging	Het
Gm973	A	C	1: 59,621,582 (GRCm39)	H574P	probably benign	Het
Gprasp1	G	A	X: 134,701,288 (GRCm39)	V494I	probably benign	Het
Hbb-bh1	T	A	7: 103,492,017 (GRCm39)	K66*	probably null	Het
Hoxb9	T	A	11: 96,165,651 (GRCm39)	M240K	probably damaging	Het
Irf2	T	C	8: 47,260,788 (GRCm39)		probably null	Het
Lgi4	A	G	7: 30,766,688 (GRCm39)		probably null	Het
Mylk3	C	T	8: 86,081,805 (GRCm39)	V328M	probably benign	Het
Nf2	T	C	11: 4,798,873 (GRCm39)	E38G	probably null	Het
Or4k40	A	C	2: 111,250,657 (GRCm39)	L213R	probably damaging	Het
Or51l14	A	T	7: 103,100,978 (GRCm39)	K145*	probably null	Het
Pdpk1	A	G	17: 24,298,612 (GRCm39)	F346L	probably damaging	Het
Prex1	T	C	2: 166,419,806 (GRCm39)	Y1120C	probably damaging	Het
Rab3gap1	A	G	1: 127,865,237 (GRCm39)	T742A	probably benign	Het
Scai	A	T	2: 38,989,429 (GRCm39)	D401E	probably benign	Het
Scd1	T	C	19: 44,386,533 (GRCm39)	H298R	probably damaging	Het
Shld2	T	C	14: 33,990,235 (GRCm39)	R224G	probably benign	Het
Slc45a1	A	G	4: 150,723,176 (GRCm39)		probably benign	Het
Smim10l1	G	T	6: 133,082,471 (GRCm39)	R6L	probably damaging	Het
Spag5	T	G	11: 78,210,860 (GRCm39)	F921C	probably damaging	Het
Sun1	T	C	5: 139,227,186 (GRCm39)	S667P	probably damaging	Het
Tas2r124	A	G	6: 132,732,524 (GRCm39)	I278V	probably benign	Het
Thbs1	G	A	2: 117,943,999 (GRCm39)	D206N	probably benign	Het
Trim37	T	A	11: 87,058,256 (GRCm39)		probably benign	Het
Vcp	T	C	4: 42,988,728 (GRCm39)	T249A	possibly damaging	Het
Vmn2r103	A	G	17: 20,014,231 (GRCm39)	N341S	possibly damaging	Het
Zmat3	A	G	3: 32,399,732 (GRCm39)		probably benign	Het

Other mutations in Eif3j2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03063:Eif3j2	APN	18	43,610,444 (GRCm39)	missense	possibly damaging	0.75
R0815:Eif3j2	UTSW	18	43,610,036 (GRCm39)	missense	probably benign	0.02
R4744:Eif3j2	UTSW	18	43,610,782 (GRCm39)	small deletion	probably benign
R5206:Eif3j2	UTSW	18	43,610,647 (GRCm39)	missense	probably benign	0.00
R7142:Eif3j2	UTSW	18	43,610,465 (GRCm39)	missense	probably damaging	0.99
R7228:Eif3j2	UTSW	18	43,610,574 (GRCm39)	missense	probably damaging	1.00
R7736:Eif3j2	UTSW	18	43,610,382 (GRCm39)	missense	possibly damaging	0.94
R8890:Eif3j2	UTSW	18	43,610,276 (GRCm39)	missense	probably benign	0.34
R8954:Eif3j2	UTSW	18	43,610,699 (GRCm39)	missense	possibly damaging	0.67
R9510:Eif3j2	UTSW	18	43,610,782 (GRCm39)	small deletion	probably benign

Posted On

2015-04-16