Mutagenetix > Incidental Mutation

Incidental Mutation 'R1934:Eif3m'

215645

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

039952-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1934 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

104830001-104847372 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 104831624 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 180 (V180D)

Ref Sequence

ENSEMBL: ENSMUSP00000106739 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028592] [ENSMUST00000111110] [ENSMUST00000111114] [ENSMUST00000148476]

AlphaFold

Q99JX4

Predicted Effect

probably damaging
Transcript: ENSMUST00000028592
AA Change: V312D

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000028592
Gene: ENSMUSG00000027170
AA Change: V312D

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

probably damaging
Transcript: ENSMUST00000111110
AA Change: V180D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000106739
Gene: ENSMUSG00000027170
AA Change: V180D

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

probably benign
Transcript: ENSMUST00000111114

SMART Domains

Protein: ENSMUSP00000106743
Gene: ENSMUSG00000045106

Domain	Start	End	E-Value	Type
low complexity region	4	20	N/A	INTRINSIC
Pfam:CCDC73	27	1061	N/A	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131266

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

Predicted Effect

probably benign
Transcript: ENSMUST00000148476

SMART Domains

Protein: ENSMUSP00000122339
Gene: ENSMUSG00000027170

Domain	Start	End	E-Value	Type
Blast:PINT	84	126	7e-25	BLAST
low complexity region	127	141	N/A	INTRINSIC

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.5%

Validation Efficiency

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	C	6: 121,626,792 (GRCm39)	L548P	probably damaging	Het
Abca6	A	G	11: 110,100,909 (GRCm39)		probably null	Het
Abcb5	A	G	12: 118,871,235 (GRCm39)		probably null	Het
Acacb	G	A	5: 114,336,343 (GRCm39)	A686T	probably benign	Het
Acot6	T	C	12: 84,153,367 (GRCm39)	V203A	probably benign	Het
Adam25	A	T	8: 41,207,922 (GRCm39)	Y396F	probably benign	Het
Adamts9	A	G	6: 92,920,102 (GRCm39)	L12P	possibly damaging	Het
Adamtsl2	A	T	2: 26,979,605 (GRCm39)	D258V	probably damaging	Het
Aox4	G	A	1: 58,285,095 (GRCm39)	V616I	probably benign	Het
Ap1m1	A	G	8: 73,009,637 (GRCm39)	I382V	probably damaging	Het
Arhgef2	G	A	3: 88,537,098 (GRCm39)	R8Q	probably damaging	Het
Arhgef37	T	G	18: 61,657,014 (GRCm39)	E17A	probably benign	Het
Arhgef7	C	A	8: 11,858,713 (GRCm39)		probably null	Het
Arih1	T	C	9: 59,302,215 (GRCm39)	D431G	probably damaging	Het
Astn2	C	T	4: 65,353,426 (GRCm39)	V1115M	probably damaging	Het
Atg7	T	A	6: 114,678,196 (GRCm39)	M280K	probably damaging	Het
Birc2	T	C	9: 7,854,500 (GRCm39)	T397A	possibly damaging	Het
Ccdc110	A	G	8: 46,396,287 (GRCm39)	N726S	probably damaging	Het
Cdadc1	A	T	14: 59,827,309 (GRCm39)	S121T	possibly damaging	Het
Cdh16	A	G	8: 105,344,595 (GRCm39)	V7A	possibly damaging	Het
Cenpb	A	G	2: 131,021,184 (GRCm39)	S205P	probably benign	Het
Chsy1	T	C	7: 65,821,991 (GRCm39)	V742A	probably damaging	Het
Col12a1	G	A	9: 79,511,804 (GRCm39)	R133*	probably null	Het
Col18a1	A	C	10: 76,948,578 (GRCm39)	S311R	possibly damaging	Het
Col9a3	G	A	2: 180,248,927 (GRCm39)	V260M	probably damaging	Het
Coq2	T	A	5: 100,809,731 (GRCm39)	R17S	probably damaging	Het
Ctf1	A	G	7: 127,311,936 (GRCm39)	R4G	probably damaging	Het
Cwc27	T	C	13: 104,768,184 (GRCm39)	D437G	probably benign	Het
Cyp4f14	T	C	17: 33,125,289 (GRCm39)	N430D	probably damaging	Het
Dars2	A	G	1: 160,890,811 (GRCm39)		probably null	Het
Dgkz	A	T	2: 91,767,449 (GRCm39)	M848K	possibly damaging	Het
Dnhd1	T	G	7: 105,357,789 (GRCm39)	V3208G	probably benign	Het
Dsg1b	A	G	18: 20,528,963 (GRCm39)	Y233C	probably damaging	Het
Edem3	A	T	1: 151,680,034 (GRCm39)	D460V	probably damaging	Het
Ednra	A	G	8: 78,415,747 (GRCm39)	S167P	possibly damaging	Het
Fam217a	T	A	13: 35,094,864 (GRCm39)	R207S	probably damaging	Het
Fcgbp	G	A	7: 27,806,518 (GRCm39)	G2162D	probably damaging	Het
Fhod3	A	T	18: 25,223,335 (GRCm39)	I894F	probably benign	Het
Fpgs	A	T	2: 32,577,993 (GRCm39)	I143N	probably damaging	Het
Fpr-rs6	A	G	17: 20,403,152 (GRCm39)	S70P	probably benign	Het
Frs2	T	C	10: 116,914,806 (GRCm39)	M38V	probably damaging	Het
Fsip2	A	G	2: 82,810,902 (GRCm39)	N2407S	possibly damaging	Het
Gabrg2	T	A	11: 41,811,297 (GRCm39)	T283S	probably benign	Het
Gas2l1	T	A	11: 5,011,408 (GRCm39)	T474S	probably benign	Het
Gli1	A	T	10: 127,167,108 (GRCm39)	M715K	possibly damaging	Het
Glra3	G	T	8: 56,393,942 (GRCm39)	A18S	probably benign	Het
Gm5800	T	A	14: 51,949,396 (GRCm39)	N183I	possibly damaging	Het
Gm8674	T	A	13: 50,055,471 (GRCm39)		noncoding transcript	Het
Gnat3	A	T	5: 18,224,508 (GRCm39)	I303F	possibly damaging	Het
Grin2d	C	T	7: 45,506,251 (GRCm39)	V547M	probably damaging	Het
Grpr	C	A	X: 162,332,137 (GRCm39)	V53L	probably benign	Het
Heatr5b	T	C	17: 79,103,347 (GRCm39)	I1169V	possibly damaging	Het
Icam5	A	G	9: 20,946,082 (GRCm39)	T305A	probably benign	Het
Itga11	T	A	9: 62,651,796 (GRCm39)	N309K	probably damaging	Het
Itgb6	T	C	2: 60,499,493 (GRCm39)	D100G	probably benign	Het
Kdm3b	A	G	18: 34,946,597 (GRCm39)	K862R	probably benign	Het
Kif7	T	C	7: 79,361,286 (GRCm39)	D135G	probably benign	Het
Lrp4	A	G	2: 91,310,777 (GRCm39)	D606G	probably damaging	Het
Lrrtm1	A	T	6: 77,221,949 (GRCm39)		probably null	Het
Metap1d	A	T	2: 71,352,927 (GRCm39)	H252L	possibly damaging	Het
Mfhas1	A	G	8: 36,058,251 (GRCm39)	K909E	possibly damaging	Het
Mrgprh	C	T	17: 13,095,838 (GRCm39)	T26I	probably damaging	Het
Myo15b	T	C	11: 115,754,310 (GRCm39)	S937P	probably benign	Het
Neto2	A	T	8: 86,397,033 (GRCm39)	I73N	possibly damaging	Het
Nod2	T	C	8: 89,390,347 (GRCm39)	I196T	probably benign	Het
Nvl	T	G	1: 180,926,693 (GRCm39)	T788P	probably damaging	Het
Or13a25	C	A	7: 140,247,951 (GRCm39)	C243*	probably null	Het
Or2h2	A	T	17: 37,396,906 (GRCm39)	D50E	possibly damaging	Het
Pax3	G	A	1: 78,080,117 (GRCm39)	T423I	possibly damaging	Het
Pde4dip	A	G	3: 97,600,007 (GRCm39)	V2403A	possibly damaging	Het
Phip	C	T	9: 82,785,235 (GRCm39)	V827I	probably benign	Het
Plcb3	A	G	19: 6,941,977 (GRCm39)	F285L	probably damaging	Het
Pnp2	A	G	14: 51,193,675 (GRCm39)	I16V	probably benign	Het
Pola2	A	G	19: 6,003,769 (GRCm39)	L202P	probably damaging	Het
Ppfia1	A	T	7: 144,058,847 (GRCm39)	N651K	probably benign	Het
Prss53	T	C	7: 127,485,920 (GRCm39)		probably null	Het
Rasgrf1	G	T	9: 89,835,966 (GRCm39)	Q231H	probably damaging	Het
Rasgrf2	A	T	13: 92,131,825 (GRCm39)		probably null	Het
Rccd1	T	A	7: 79,970,272 (GRCm39)	N115I	possibly damaging	Het
Rpgrip1	A	T	14: 52,352,101 (GRCm39)	T26S	possibly damaging	Het
Rpn1	T	A	6: 88,070,841 (GRCm39)	V237E	probably damaging	Het
Sema4f	G	T	6: 82,907,908 (GRCm39)	P180Q	probably damaging	Het
Slc36a4	T	C	9: 15,632,085 (GRCm39)	V87A	probably damaging	Het
Slc5a4b	A	T	10: 75,917,307 (GRCm39)	V243E	possibly damaging	Het
Sos2	T	G	12: 69,695,315 (GRCm39)	I141L	probably damaging	Het
Srbd1	A	G	17: 86,410,321 (GRCm39)	V537A	probably damaging	Het
Sugp1	A	G	8: 70,509,225 (GRCm39)	E166G	possibly damaging	Het
Tktl2	G	A	8: 66,964,999 (GRCm39)	V186M	probably damaging	Het
Tshr	T	C	12: 91,503,955 (GRCm39)	S298P	probably damaging	Het
Tspan14	T	C	14: 40,656,209 (GRCm39)	Y6C	probably damaging	Het
Ttn	A	T	2: 76,577,384 (GRCm39)	V24503E	probably damaging	Het
Vcan	T	A	13: 89,851,045 (GRCm39)	N1305I	probably damaging	Het
Vmn2r81	A	G	10: 79,083,628 (GRCm39)	M1V	probably null	Het
Vps39	A	T	2: 120,148,558 (GRCm39)	V873E	probably damaging	Het
Vstm2a	A	T	11: 16,359,734 (GRCm39)	D270V	unknown	Het
Wdr24	A	T	17: 26,043,240 (GRCm39)	M21L	possibly damaging	Het
Wee1	A	G	7: 109,721,698 (GRCm39)	T48A	probably benign	Het
Zfp369	T	C	13: 65,444,965 (GRCm39)	C703R	probably damaging	Het
Zfp532	A	T	18: 65,818,682 (GRCm39)	D1114V	probably damaging	Het
Zfp758	A	G	17: 22,592,633 (GRCm39)	T46A	probably 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
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
R5373:Eif3m	UTSW	2	104,843,277 (GRCm39)	missense	probably damaging	0.99
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'- CCTGCTTCTAACCATCATACGTAG -3'
(R):5'- TTGTGGAAGCCTTGCATTGAC -3'

Sequencing Primer
(F):5'- CCCAAAGCCGTTTCATTCT -3'
(R):5'- CTTGCATTGACACTCAACAGAGTTC -3'

Posted On

2014-07-14