Mutagenetix > Incidental Mutation

Incidental Mutation 'R5373:Eif3m'

428847

Institutional Source

Beutler Lab

Gene Symbol

Eif3m

Ensembl Gene

ENSMUSG00000027170

Gene Name

eukaryotic translation initiation factor 3, subunit M

Synonyms

Tango7, Pcid1, Ga17

MMRRC Submission

042949-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5373 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

104830001-104847372 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 104843277 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 151 (I151N)

Ref Sequence

ENSEMBL: ENSMUSP00000028592 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028592] [ENSMUST00000111110]

AlphaFold

Q99JX4

Predicted Effect

probably damaging
Transcript: ENSMUST00000028592
AA Change: I151N

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000028592
Gene: ENSMUSG00000027170
AA Change: I151N

Domain	Start	End	E-Value	Type
Blast:HDc	119	209	1e-12	BLAST
PINT	268	357	6.42e-26	SMART
low complexity region	358	372	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111110
AA Change: I19N

PolyPhen 2 Score 0.623 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000106739
Gene: ENSMUSG00000027170
AA Change: I19N

Domain	Start	End	E-Value	Type
Blast:HDc	13	77	7e-8	BLAST
PINT	136	225	6.42e-26	SMART
low complexity region	226	240	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130611

Predicted Effect

probably benign
Transcript: ENSMUST00000144358

SMART Domains

Protein: ENSMUSP00000114374
Gene: ENSMUSG00000045106

Domain	Start	End	E-Value	Type
Pfam:CCDC73	1	182	3.1e-77	PFAM

Meta Mutation Damage Score

0.6281

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

96% (74/77)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is part of the eurkaryotic translation initiation factor 3 complete (eIF-3) required for protein synthesis. Elevated levels of the encoded protein are present in cancer cell lines. Inactivation of the encoded protein has been shown to interfere with translation of herpes virus mRNAs by preventing the association of mRNAs with the ribosomes. A pseudogene of this gene is located on the X chromosome. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for a targeted allele exhibit embryonic lethality. Mice heterozygous for this allele exhibit decreased body weight and altered organ weights. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 137,773,396 (GRCm39)	S862G	probably benign	Het
Abcb5	G	T	12: 118,850,912 (GRCm39)	T887K	probably damaging	Het
Adgrf1	G	A	17: 43,601,896 (GRCm39)		probably benign	Het
Adss2	T	G	1: 177,623,954 (GRCm39)	I3L	probably benign	Het
Anapc7	T	A	5: 122,576,280 (GRCm39)	D302E	probably benign	Het
Ank3	A	G	10: 69,789,306 (GRCm39)		probably null	Het
Arpp21	T	G	9: 111,896,336 (GRCm39)	M687L	probably benign	Het
Camkv	T	C	9: 107,824,088 (GRCm39)	S221P	probably benign	Het
Ccdc88a	C	T	11: 29,413,409 (GRCm39)	T649M	possibly damaging	Het
Cdh12	A	C	15: 21,583,998 (GRCm39)	S613R	probably damaging	Het
Chsy1	C	T	7: 65,759,824 (GRCm39)	Q56*	probably null	Het
Cisd2	A	G	3: 135,114,596 (GRCm39)	V125A	probably benign	Het
Cntnap2	T	A	6: 47,084,903 (GRCm39)	H1121Q	probably benign	Het
Corin	A	T	5: 72,462,296 (GRCm39)	C876S	probably damaging	Het
Cplane1	T	C	15: 8,300,287 (GRCm39)	V3198A	unknown	Het
Cspp1	T	G	1: 10,204,351 (GRCm39)	L1038R	probably damaging	Het
Cwc15	A	G	9: 14,416,234 (GRCm39)	K147E	possibly damaging	Het
Dlgap2	A	G	8: 14,873,614 (GRCm39)	D739G	probably benign	Het
Dmxl2	A	G	9: 54,276,473 (GRCm39)		probably benign	Het
Dnajc6	T	C	4: 101,472,824 (GRCm39)	I317T	probably damaging	Het
Dpysl3	T	C	18: 43,494,101 (GRCm39)	Y193C	probably damaging	Het
Dtna	T	C	18: 23,784,670 (GRCm39)	Y730H	probably damaging	Het
Dusp3	A	G	11: 101,875,451 (GRCm39)	Y38H	possibly damaging	Het
Eml2	A	T	7: 18,913,188 (GRCm39)	D62V	possibly damaging	Het
Epb41l3	C	A	17: 69,593,795 (GRCm39)	H810N	probably damaging	Het
Evc2	C	T	5: 37,535,554 (GRCm39)	R410W	probably damaging	Het
Fam169b	T	C	7: 67,950,586 (GRCm39)	Y13H	probably damaging	Het
Fcrl5	A	G	3: 87,353,698 (GRCm39)	T348A	probably benign	Het
Fezf2	A	T	14: 12,344,803 (GRCm38)	V128E	possibly damaging	Het
Ighv3-5	A	G	12: 114,226,573 (GRCm39)	S18P	probably damaging	Het
Kcnq5	T	A	1: 22,031,795 (GRCm39)	H4L	unknown	Het
Kdm5d	C	T	Y: 927,995 (GRCm39)	P756S	probably benign	Het
Lig1	AG	A	7: 13,039,849 (GRCm39)		probably null	Het
Ly75	A	T	2: 60,142,115 (GRCm39)	L1332M	possibly damaging	Het
Med1	T	A	11: 98,054,789 (GRCm39)	K378N	probably damaging	Het
Mn1	A	G	5: 111,569,752 (GRCm39)		probably null	Het
Mpo	T	C	11: 87,694,437 (GRCm39)		probably null	Het
Mtfr2	G	T	10: 20,228,598 (GRCm39)	C48F	probably benign	Het
Nt5c	G	A	11: 115,381,643 (GRCm39)		probably null	Het
Pcdhga4	T	C	18: 37,818,649 (GRCm39)	V66A	probably damaging	Het
Pik3c3	T	C	18: 30,445,614 (GRCm39)	S534P	probably benign	Het
Pla2g4e	A	T	2: 120,016,876 (GRCm39)	C222S	probably benign	Het
Plch1	A	C	3: 63,605,499 (GRCm39)	H1468Q	probably benign	Het
Psd2	T	A	18: 36,140,556 (GRCm39)	W610R	probably damaging	Het
Ptgs1	A	T	2: 36,141,198 (GRCm39)	K548N	probably damaging	Het
Ptpn14	T	C	1: 189,583,160 (GRCm39)	M669T	probably benign	Het
Ptprf	G	T	4: 118,083,238 (GRCm39)	T923K	possibly damaging	Het
Ptprg	A	G	14: 12,213,665 (GRCm38)	N1011S	probably benign	Het
Ptprz1	T	A	6: 23,007,354 (GRCm39)	V1639E	probably damaging	Het
Rgsl1	C	T	1: 153,666,053 (GRCm39)	V986I	probably benign	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Rxfp2	A	G	5: 149,993,725 (GRCm39)	T596A	probably benign	Het
Serpina3j	A	G	12: 104,280,986 (GRCm39)	D53G	probably damaging	Het
Slc26a7	A	T	4: 14,546,447 (GRCm39)	I294N	probably damaging	Het
Slirp	T	C	12: 87,496,192 (GRCm39)	S96P	possibly damaging	Het
Snx6	T	C	12: 54,817,513 (GRCm39)	E128G	probably damaging	Het
Spata6	T	A	4: 111,680,031 (GRCm39)		probably null	Het
Stap1	A	G	5: 86,238,787 (GRCm39)	T152A	possibly damaging	Het
Susd5	G	A	9: 113,911,653 (GRCm39)	G188R	probably damaging	Het
Thap2	A	T	10: 115,208,744 (GRCm39)	Y125*	probably null	Het
Tnrc18	G	A	5: 142,725,911 (GRCm39)	R1793C	unknown	Het
Ugt1a10	T	A	1: 87,983,632 (GRCm39)	D143E	probably damaging	Het
Vmn1r85	A	T	7: 12,818,255 (GRCm39)	Y296*	probably null	Het
Vmn2r71	C	T	7: 85,267,750 (GRCm39)	T68I	possibly damaging	Het
Zc3h6	A	T	2: 128,844,076 (GRCm39)	I207F	possibly damaging	Het
Zfp518a	T	C	19: 40,901,954 (GRCm39)	S628P	probably benign	Het
Zfp85	T	C	13: 67,897,577 (GRCm39)	Y165C	probably damaging	Het
Zup1	T	C	10: 33,803,462 (GRCm39)	N541D	possibly damaging	Het

Other mutations in Eif3m

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02003:Eif3m	APN	2	104,843,188 (GRCm39)	intron	probably benign
IGL02661:Eif3m	APN	2	104,835,314 (GRCm39)	missense	probably damaging	0.98
IGL02932:Eif3m	APN	2	104,845,214 (GRCm39)	missense	probably damaging	1.00
R0039:Eif3m	UTSW	2	104,836,217 (GRCm39)	missense	probably damaging	1.00
R0373:Eif3m	UTSW	2	104,835,345 (GRCm39)	missense	probably benign	0.06
R1452:Eif3m	UTSW	2	104,837,122 (GRCm39)	missense	probably damaging	1.00
R1695:Eif3m	UTSW	2	104,847,298 (GRCm39)	missense	probably damaging	0.98
R1934:Eif3m	UTSW	2	104,831,624 (GRCm39)	missense	probably damaging	1.00
R2115:Eif3m	UTSW	2	104,837,141 (GRCm39)	missense	probably damaging	1.00
R2416:Eif3m	UTSW	2	104,844,178 (GRCm39)	missense	probably benign
R4610:Eif3m	UTSW	2	104,843,633 (GRCm39)	missense	probably benign	0.08
R4713:Eif3m	UTSW	2	104,837,184 (GRCm39)	splice site	probably null
R5374:Eif3m	UTSW	2	104,843,277 (GRCm39)	missense	probably damaging	0.99
R5725:Eif3m	UTSW	2	104,844,186 (GRCm39)	missense	probably damaging	0.97
R7996:Eif3m	UTSW	2	104,831,694 (GRCm39)	missense	probably benign	0.22
R8983:Eif3m	UTSW	2	104,830,139 (GRCm39)	missense	possibly damaging	0.70
R9082:Eif3m	UTSW	2	104,836,217 (GRCm39)	missense	probably damaging	1.00
R9227:Eif3m	UTSW	2	104,831,705 (GRCm39)	missense	probably damaging	1.00
R9230:Eif3m	UTSW	2	104,831,705 (GRCm39)	missense	probably damaging	1.00
Z1088:Eif3m	UTSW	2	104,843,601 (GRCm39)	missense	probably damaging	1.00
Z1177:Eif3m	UTSW	2	104,831,619 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATTTCTGATGCTGTGGAGAACAAG -3'
(R):5'- AACTCAGGTAGGAGCAGCTCTG -3'

Sequencing Primer
(F):5'- GAGAACAAGGTAAAAACAACTAGCTC -3'
(R):5'- TAGGAGCAGCTCTGTGTGCC -3'

Posted On

2016-09-06