Mutagenetix > Incidental Mutation

Incidental Mutation 'R1483:Eif3a'

165744

Institutional Source

Beutler Lab

Gene Symbol

Eif3a

Ensembl Gene

ENSMUSG00000024991

Gene Name

eukaryotic translation initiation factor 3, subunit A

Synonyms

Eif3, Csma, Eif3s10, A830012B05Rik

MMRRC Submission

039536-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.971) question?

Stock #

R1483 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

60749555-60779096 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 60757164 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 880 (D880E)

Ref Sequence

ENSEMBL: ENSMUSP00000025955 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025955]

AlphaFold

P23116

Predicted Effect

unknown
Transcript: ENSMUST00000025955
AA Change: D880E

SMART Domains

Protein: ENSMUSP00000025955
Gene: ENSMUSG00000024991
AA Change: D880E

Domain	Start	End	E-Value	Type
coiled coil region	82	120	N/A	INTRINSIC
PINT	426	506	5.69e-18	SMART
SCOP:d1f5aa2	563	711	5e-3	SMART
coiled coil region	772	880	N/A	INTRINSIC
low complexity region	919	947	N/A	INTRINSIC
low complexity region	951	976	N/A	INTRINSIC
internal_repeat_2	978	991	1.01e-8	PROSPERO
low complexity region	993	1007	N/A	INTRINSIC
low complexity region	1013	1027	N/A	INTRINSIC
low complexity region	1033	1057	N/A	INTRINSIC
low complexity region	1064	1089	N/A	INTRINSIC
internal_repeat_1	1090	1111	6.2e-12	PROSPERO
internal_repeat_2	1099	1112	1.01e-8	PROSPERO
internal_repeat_1	1110	1131	6.2e-12	PROSPERO
low complexity region	1146	1173	N/A	INTRINSIC
low complexity region	1176	1206	N/A	INTRINSIC
low complexity region	1221	1260	N/A	INTRINSIC
low complexity region	1265	1297	N/A	INTRINSIC
low complexity region	1301	1314	N/A	INTRINSIC

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.8%
20x: 91.0%

Validation Efficiency

Allele List at MGI

All alleles(36) : Targeted, other(2) Gene trapped(34)

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam12	T	A	7: 133,531,754 (GRCm39)	T494S	probably benign	Het
Akap6	C	T	12: 52,842,870 (GRCm39)	P73S	probably damaging	Het
Amotl2	A	T	9: 102,608,096 (GRCm39)	T763S	probably benign	Het
Brd10	G	A	19: 29,696,745 (GRCm39)	P916L	possibly damaging	Het
Cdc5l	A	T	17: 45,719,290 (GRCm39)	V541D	possibly damaging	Het
Chl1	A	G	6: 103,624,248 (GRCm39)	Y52C	probably damaging	Het
D6Wsu163e	A	G	6: 126,931,733 (GRCm39)	E255G	probably benign	Het
Ddhd2	A	G	8: 26,243,155 (GRCm39)	S126P	probably benign	Het
Dner	CGCTGCTGCTGCTGCTGCTGCTGCTGC	CGCTGCTGCTGCTGCTGCTGCTGC	1: 84,563,270 (GRCm39)		probably benign	Het
Drc3	A	G	11: 60,279,715 (GRCm39)	I427V	probably benign	Het
Drg2	T	C	11: 60,350,353 (GRCm39)	I104T	probably damaging	Het
Dst	C	T	1: 34,292,079 (GRCm39)	A932V	probably damaging	Het
Ecm1	G	A	3: 95,643,275 (GRCm39)	R342C	probably damaging	Het
Elf1	T	A	14: 79,818,078 (GRCm39)	D569E	probably benign	Het
Esp6	T	A	17: 40,873,816 (GRCm39)	M1K	probably null	Het
Fer1l6	T	C	15: 58,509,819 (GRCm39)	V1427A	possibly damaging	Het
Gsta1	A	T	9: 78,149,775 (GRCm39)	K196M	probably damaging	Het
Gzme	T	A	14: 56,356,169 (GRCm39)	I110F	probably damaging	Het
H2-DMa	T	A	17: 34,354,724 (GRCm39)	V27E	possibly damaging	Het
H2-T10	A	T	17: 36,432,038 (GRCm39)	S2T	probably benign	Het
Hadhb	A	G	5: 30,374,492 (GRCm39)		probably null	Het
Hoxa11	G	T	6: 52,220,436 (GRCm39)	D282E	probably damaging	Het
Ifit1bl1	A	G	19: 34,572,041 (GRCm39)	Y139H	possibly damaging	Het
Ift27	A	G	15: 78,049,436 (GRCm39)	V88A	possibly damaging	Het
Knop1	C	T	7: 118,452,273 (GRCm39)	A149T	probably damaging	Het
Macf1	T	A	4: 123,404,770 (GRCm39)	K597I	probably damaging	Het
Med16	A	T	10: 79,738,934 (GRCm39)	I284N	possibly damaging	Het
Melk	T	A	4: 44,308,937 (GRCm39)	I98K	probably damaging	Het
Mst1	G	T	9: 107,958,849 (GRCm39)	G127V	probably benign	Het
Nacad	A	G	11: 6,552,217 (GRCm39)	S325P	probably damaging	Het
Nbea	G	A	3: 55,910,211 (GRCm39)	P1328L	probably benign	Het
Nek5	C	T	8: 22,586,806 (GRCm39)	S335N	probably benign	Het
Nif3l1	C	A	1: 58,486,885 (GRCm39)	R24S	probably benign	Het
Nlrp14	T	G	7: 106,789,329 (GRCm39)	N39K	possibly damaging	Het
Nup50	T	A	15: 84,823,928 (GRCm39)	V427D	probably damaging	Het
Nwd1	C	T	8: 73,383,714 (GRCm39)	P78L	probably damaging	Het
Or5an9	T	A	19: 12,187,114 (GRCm39)	Y61*	probably null	Het
Pate8	G	A	9: 36,492,620 (GRCm39)	S95L	probably benign	Het
Pnkd	A	G	1: 74,388,550 (GRCm39)	Y242C	probably benign	Het
Ppm1g	T	C	5: 31,360,465 (GRCm39)	D423G	probably benign	Het
Pramel32	T	A	4: 88,547,071 (GRCm39)	Q116L	probably damaging	Het
Prkci	A	T	3: 31,097,941 (GRCm39)	N464Y	probably damaging	Het
Ptprf	C	T	4: 118,093,161 (GRCm39)	V494M	possibly damaging	Het
Rapgef4	T	G	2: 71,885,370 (GRCm39)		probably null	Het
Rbak	T	C	5: 143,160,099 (GRCm39)	E318G	probably damaging	Het
Rora	A	G	9: 69,271,667 (GRCm39)	D215G	probably benign	Het
Rp1l1	C	T	14: 64,266,496 (GRCm39)	T694I	possibly damaging	Het
Scrib	A	G	15: 75,929,771 (GRCm39)	L1032P	probably damaging	Het
Sectm1b	G	A	11: 120,946,652 (GRCm39)	T81M	probably benign	Het
Sgk3	T	C	1: 9,942,518 (GRCm39)	F97L	possibly damaging	Het
Socs3	A	T	11: 117,858,394 (GRCm39)	Y221*	probably null	Het
Spata31d1e	A	T	13: 59,890,717 (GRCm39)	S368T	probably damaging	Het
Tdrd6	T	A	17: 43,938,498 (GRCm39)	H850L	probably benign	Het
Tex44	G	T	1: 86,354,908 (GRCm39)	Q272H	probably damaging	Het
Tgfbr2	A	C	9: 115,938,625 (GRCm39)	S426A	probably benign	Het
Tmem39b	T	C	4: 129,570,456 (GRCm39)	Y461C	probably damaging	Het
Ttn	T	A	2: 76,555,337 (GRCm39)	D30556V	probably damaging	Het
Tubgcp5	T	A	7: 55,475,455 (GRCm39)		probably null	Het
Vmn2r70	T	C	7: 85,208,375 (GRCm39)	I701V	probably benign	Het
Vps39	A	T	2: 120,154,129 (GRCm39)	L622Q	probably damaging	Het
Wdfy4	T	A	14: 32,822,923 (GRCm39)	H1347L	probably benign	Het
Xpo1	A	G	11: 23,234,863 (GRCm39)	I540V	probably benign	Het
Xylt2	A	C	11: 94,560,393 (GRCm39)	M294R	probably benign	Het
Zfp788	T	G	7: 41,298,499 (GRCm39)	Y326*	probably null	Het
Zim1	A	G	7: 6,685,124 (GRCm39)	F109L	probably benign	Het

Other mutations in Eif3a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00485:Eif3a	APN	19	60,758,328 (GRCm39)	missense	unknown
IGL00981:Eif3a	APN	19	60,755,049 (GRCm39)	missense	unknown
IGL01650:Eif3a	APN	19	60,762,434 (GRCm39)	missense	probably damaging	1.00
IGL01926:Eif3a	APN	19	60,758,399 (GRCm39)	missense	unknown
IGL02100:Eif3a	APN	19	60,755,442 (GRCm39)	splice site	probably benign
IGL02316:Eif3a	APN	19	60,760,076 (GRCm39)	splice site	probably benign
IGL02444:Eif3a	APN	19	60,762,045 (GRCm39)	missense	possibly damaging	0.89
IGL02552:Eif3a	APN	19	60,751,664 (GRCm39)	unclassified	probably benign
IGL02797:Eif3a	APN	19	60,761,164 (GRCm39)	missense	probably damaging	1.00
IGL03108:Eif3a	APN	19	60,770,747 (GRCm39)	missense	possibly damaging	0.85
FR4304:Eif3a	UTSW	19	60,763,728 (GRCm39)	critical splice donor site	probably benign
FR4548:Eif3a	UTSW	19	60,763,729 (GRCm39)	critical splice donor site	probably benign
FR4737:Eif3a	UTSW	19	60,763,727 (GRCm39)	critical splice donor site	probably benign
FR4976:Eif3a	UTSW	19	60,763,729 (GRCm39)	critical splice donor site	probably benign
G5538:Eif3a	UTSW	19	60,770,340 (GRCm39)	missense	probably damaging	0.97
R0054:Eif3a	UTSW	19	60,755,264 (GRCm39)	missense	unknown
R0054:Eif3a	UTSW	19	60,755,264 (GRCm39)	missense	unknown
R1636:Eif3a	UTSW	19	60,770,343 (GRCm39)	missense	possibly damaging	0.93
R1748:Eif3a	UTSW	19	60,755,236 (GRCm39)	missense	unknown
R1857:Eif3a	UTSW	19	60,770,635 (GRCm39)	missense	probably damaging	1.00
R1858:Eif3a	UTSW	19	60,770,635 (GRCm39)	missense	probably damaging	1.00
R1993:Eif3a	UTSW	19	60,769,954 (GRCm39)	missense	probably benign	0.19
R2034:Eif3a	UTSW	19	60,750,568 (GRCm39)	unclassified	probably benign
R2099:Eif3a	UTSW	19	60,752,551 (GRCm39)	unclassified	probably benign
R2140:Eif3a	UTSW	19	60,763,832 (GRCm39)	splice site	probably benign
R2434:Eif3a	UTSW	19	60,752,488 (GRCm39)	unclassified	probably benign
R2940:Eif3a	UTSW	19	60,762,115 (GRCm39)	missense	probably benign	0.22
R4630:Eif3a	UTSW	19	60,766,424 (GRCm39)	missense	probably benign	0.41
R4630:Eif3a	UTSW	19	60,758,366 (GRCm39)	missense	unknown
R4926:Eif3a	UTSW	19	60,751,656 (GRCm39)	unclassified	probably benign
R5366:Eif3a	UTSW	19	60,767,971 (GRCm39)	missense	probably benign	0.12
R6003:Eif3a	UTSW	19	60,755,319 (GRCm39)	missense	unknown
R6082:Eif3a	UTSW	19	60,760,568 (GRCm39)	missense	possibly damaging	0.82
R6256:Eif3a	UTSW	19	60,759,464 (GRCm39)	missense	possibly damaging	0.72
R7056:Eif3a	UTSW	19	60,751,500 (GRCm39)	splice site	probably null
R7365:Eif3a	UTSW	19	60,755,082 (GRCm39)	missense	unknown
R7922:Eif3a	UTSW	19	60,764,280 (GRCm39)	missense	probably damaging	1.00
R8076:Eif3a	UTSW	19	60,762,363 (GRCm39)	missense	probably damaging	0.97
R8169:Eif3a	UTSW	19	60,750,628 (GRCm39)	missense	unknown
R8246:Eif3a	UTSW	19	60,767,806 (GRCm39)	missense	probably damaging	1.00
R8474:Eif3a	UTSW	19	60,767,929 (GRCm39)	missense	possibly damaging	0.63
R8546:Eif3a	UTSW	19	60,755,208 (GRCm39)	missense	unknown
R8964:Eif3a	UTSW	19	60,751,630 (GRCm39)	missense	unknown
R9071:Eif3a	UTSW	19	60,751,634 (GRCm39)	missense	unknown
R9290:Eif3a	UTSW	19	60,765,221 (GRCm39)	missense	probably damaging	1.00
R9484:Eif3a	UTSW	19	60,755,006 (GRCm39)	missense	unknown
R9780:Eif3a	UTSW	19	60,766,398 (GRCm39)	missense	probably damaging	1.00
X0028:Eif3a	UTSW	19	60,770,340 (GRCm39)	missense	probably damaging	0.97
X0066:Eif3a	UTSW	19	60,750,731 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- CTGGTGAAGAGGGCTCATTACGTTT -3'
(R):5'- GGTGGGAAGCACATTTGAGTAACCT -3'

Sequencing Primer
(F):5'- TCTCCCAATTGATGGAGACACTG -3'
(R):5'- CCTGACAAATTTTCATAGAGCGAG -3'

Posted On

2014-03-28