Mutagenetix > Incidental Mutation

Incidental Mutation 'R5744:Eif3f'

445715

Institutional Source

Beutler Lab

Gene Symbol

Eif3f

Ensembl Gene

ENSMUSG00000031029

Gene Name

eukaryotic translation initiation factor 3, subunit F

Synonyms

Eif3s5, 0610037M02Rik

MMRRC Submission

043197-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.965) question?

Stock #

R5744 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

108533622-108541149 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 108537624 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 179 (T179K)

Ref Sequence

ENSEMBL: ENSMUSP00000033342 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033342]

AlphaFold

Q9DCH4

Predicted Effect

probably damaging
Transcript: ENSMUST00000033342
AA Change: T179K

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000033342
Gene: ENSMUSG00000031029
AA Change: T179K

Domain	Start	End	E-Value	Type
low complexity region	2	93	N/A	INTRINSIC
JAB_MPN	95	225	3.11e-42	SMART
Pfam:MitMem_reg	247	359	7e-27	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147369

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153596

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldoart2	A	G	12: 55,612,131 (GRCm39)	I19V	possibly damaging	Het
Ascc3	T	C	10: 50,586,977 (GRCm39)	I943T	probably benign	Het
Btaf1	T	C	19: 36,981,890 (GRCm39)	V1640A	probably benign	Het
Cep250	T	C	2: 155,823,394 (GRCm39)	F1015S	possibly damaging	Het
Cgnl1	G	T	9: 71,537,957 (GRCm39)		probably null	Het
Csgalnact2	C	T	6: 118,103,197 (GRCm39)	G255E	probably damaging	Het
Ctla2a	C	T	13: 61,083,767 (GRCm39)		probably null	Het
Dip2c	A	T	13: 9,618,441 (GRCm39)	I497F	probably damaging	Het
Frem2	A	G	3: 53,563,380 (GRCm39)	F376L	probably damaging	Het
Gemin4	A	T	11: 76,102,991 (GRCm39)	F590Y	probably damaging	Het
Gemin5	C	A	11: 58,046,009 (GRCm39)	C433F	possibly damaging	Het
Gm7694	C	T	1: 170,130,075 (GRCm39)		probably null	Het
Gpr158	G	A	2: 21,373,331 (GRCm39)	G89R	probably damaging	Het
Herc1	C	T	9: 66,415,475 (GRCm39)	P4817S	probably damaging	Het
Hs6st3	T	C	14: 119,375,852 (GRCm39)	L9P	possibly damaging	Het
Igdcc3	TGCCGCCGCCGCCGCCGCCGC	TGCCGCCGCCGCCGCCGC	9: 65,048,770 (GRCm39)		probably benign	Het
Il1rap	A	C	16: 26,498,974 (GRCm39)	I158L	probably benign	Het
Itpr2	A	G	6: 146,277,649 (GRCm39)	S640P	probably damaging	Het
Metrn	A	G	17: 26,014,211 (GRCm39)	V205A	probably damaging	Het
Mfhas1	C	A	8: 36,056,636 (GRCm39)	D370E	probably damaging	Het
Mn1	T	C	5: 111,568,402 (GRCm39)	S791P	possibly damaging	Het
Mtmr3	A	G	11: 4,437,679 (GRCm39)	V925A	possibly damaging	Het
Neil1	T	C	9: 57,051,485 (GRCm39)	T278A	probably damaging	Het
Nol8	A	G	13: 49,815,802 (GRCm39)	N619D	possibly damaging	Het
Nup214	T	C	2: 31,900,308 (GRCm39)	L879P	probably damaging	Het
Or2l5	A	G	16: 19,334,086 (GRCm39)	I100T	probably benign	Het
Or7a37	T	C	10: 78,806,017 (GRCm39)	F178S	probably damaging	Het
Or9k2	T	C	10: 129,998,661 (GRCm39)	D178G	possibly damaging	Het
Plxna1	C	T	6: 89,311,664 (GRCm39)	R947Q	possibly damaging	Het
Prdm16	A	G	4: 154,613,161 (GRCm39)	S89P	probably damaging	Het
Reln	A	C	5: 22,311,081 (GRCm39)	S277R	probably null	Het
Sel1l	A	T	12: 91,776,754 (GRCm39)	I746N	possibly damaging	Het
Slc2a8	C	T	2: 32,866,040 (GRCm39)	D291N	probably benign	Het
Slc7a5	T	C	8: 122,615,121 (GRCm39)	N242S	probably benign	Het
Smco3	T	C	6: 136,808,763 (GRCm39)	N37S	probably damaging	Het
Sult1c2	T	A	17: 54,280,990 (GRCm39)	K38*	probably null	Het
Tfap2b	T	C	1: 19,289,445 (GRCm39)	M190T	probably benign	Het
Tnpo2	T	A	8: 85,778,523 (GRCm39)	Y623*	probably null	Het
Tomm70a	G	T	16: 56,942,202 (GRCm39)		probably benign	Het
Ttyh2	T	C	11: 114,593,136 (GRCm39)		probably null	Het
Zbtb10	A	G	3: 9,329,623 (GRCm39)	Y327C	probably damaging	Het

Other mutations in Eif3f

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02690:Eif3f	APN	7	108,533,925 (GRCm39)	missense	probably damaging	1.00
IGL02821:Eif3f	APN	7	108,533,882 (GRCm39)	unclassified	probably benign
IGL02821:Eif3f	APN	7	108,533,881 (GRCm39)	unclassified	probably benign
R0010:Eif3f	UTSW	7	108,540,212 (GRCm39)	missense	possibly damaging	0.93
R1054:Eif3f	UTSW	7	108,537,024 (GRCm39)	critical splice donor site	probably null
R1886:Eif3f	UTSW	7	108,539,958 (GRCm39)	missense	probably benign	0.08
R2877:Eif3f	UTSW	7	108,534,019 (GRCm39)	splice site	probably null
R3700:Eif3f	UTSW	7	108,539,482 (GRCm39)	missense	probably benign	0.23
R3882:Eif3f	UTSW	7	108,540,162 (GRCm39)	missense	possibly damaging	0.88
R4471:Eif3f	UTSW	7	108,540,153 (GRCm39)	missense	possibly damaging	0.79
R4472:Eif3f	UTSW	7	108,540,153 (GRCm39)	missense	possibly damaging	0.79
R4817:Eif3f	UTSW	7	108,536,982 (GRCm39)	missense	probably damaging	0.99
R4953:Eif3f	UTSW	7	108,533,847 (GRCm39)	unclassified	probably benign
R7162:Eif3f	UTSW	7	108,539,938 (GRCm39)	missense	probably benign	0.02
R7235:Eif3f	UTSW	7	108,537,295 (GRCm39)	missense	possibly damaging	0.78
R7445:Eif3f	UTSW	7	108,533,865 (GRCm39)	missense	unknown
R9077:Eif3f	UTSW	7	108,539,425 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AAAGCATGTGACCTCGAGAGC -3'
(R):5'- TTCCTGAAGAGAAACTAAGCGG -3'

Sequencing Primer
(F):5'- ATGTGACCTCGAGAGCCTATG -3'
(R):5'- CTAAGCGGCAGGATTAGACC -3'

Posted On

2016-11-21