Mutagenetix > Incidental Mutation

Incidental Mutation 'R1993:Eif3a'

224044

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

040004-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.971) question?

Stock #

R1993 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

60749555-60779096 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 60769954 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 127 (V127I)

Ref Sequence

ENSEMBL: ENSMUSP00000025955 (fasta)

Gene Model

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

AlphaFold

P23116

Predicted Effect

probably benign
Transcript: ENSMUST00000025955
AA Change: V127I

PolyPhen 2 Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000025955
Gene: ENSMUSG00000024991
AA Change: V127I

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: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.3%

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	T	G	5: 8,871,322 (GRCm39)	I292S	possibly damaging	Het
Abcc4	T	C	14: 118,763,694 (GRCm39)	N1047S	probably benign	Het
Abcc8	G	T	7: 45,766,847 (GRCm39)		probably null	Het
Akap9	T	A	5: 4,088,520 (GRCm39)		probably null	Het
Alox5	T	A	6: 116,392,424 (GRCm39)	I366F	probably damaging	Het
Amn	A	G	12: 111,242,526 (GRCm39)	N447S	probably damaging	Het
Ankrd22	A	T	19: 34,143,174 (GRCm39)	M1K	probably null	Het
Asic1	G	T	15: 99,569,765 (GRCm39)	G29C	probably damaging	Het
Atxn7l1	A	G	12: 33,395,976 (GRCm39)	N235S	probably benign	Het
AY358078	T	A	14: 52,063,519 (GRCm39)	D388E	probably damaging	Het
Bod1l	A	G	5: 41,974,679 (GRCm39)	S2212P	probably damaging	Het
Cacna1e	T	A	1: 154,353,563 (GRCm39)	Q423L	probably damaging	Het
Calu	T	C	6: 29,366,974 (GRCm39)	I62T	possibly damaging	Het
Cars2	A	G	8: 11,564,515 (GRCm39)	V75A	probably benign	Het
Catsperb	T	A	12: 101,569,026 (GRCm39)	N899K	possibly damaging	Het
Ccdc50	T	A	16: 27,228,089 (GRCm39)	C86*	probably null	Het
Cdh5	G	T	8: 104,864,447 (GRCm39)	L469F	probably damaging	Het
Clrn3	A	T	7: 135,115,848 (GRCm39)	D167E	probably benign	Het
Csmd1	A	T	8: 16,396,698 (GRCm39)	C411S	probably damaging	Het
Dchs1	A	T	7: 105,411,755 (GRCm39)	S1454T	probably benign	Het
Ddx20	G	A	3: 105,586,660 (GRCm39)	Q562*	probably null	Het
Dgkg	T	G	16: 22,419,344 (GRCm39)	Y52S	probably damaging	Het
Dhx58	T	C	11: 100,594,316 (GRCm39)		probably null	Het
Dpp6	A	T	5: 27,604,004 (GRCm39)	I145L	probably benign	Het
Efna2	A	T	10: 80,022,711 (GRCm39)	Y85F	possibly damaging	Het
Exph5	A	T	9: 53,284,935 (GRCm39)	H672L	possibly damaging	Het
Fam131b	T	C	6: 42,297,818 (GRCm39)	T112A	possibly damaging	Het
Fcgr1	A	T	3: 96,193,184 (GRCm39)	V271E	probably damaging	Het
Fgfr4	A	G	13: 55,313,715 (GRCm39)	D508G	probably damaging	Het
Fndc3b	A	G	3: 27,473,549 (GRCm39)	M1172T	probably benign	Het
Fryl	G	T	5: 73,265,836 (GRCm39)	T495K	probably damaging	Het
Garin5b	A	T	7: 4,761,017 (GRCm39)	V565E	probably damaging	Het
Gm5134	A	T	10: 75,802,227 (GRCm39)	I93F	probably damaging	Het
Gpbar1	G	A	1: 74,318,603 (GRCm39)	G282D	possibly damaging	Het
Gria2	G	A	3: 80,709,664 (GRCm39)	L10F	probably benign	Het
Grm7	T	C	6: 111,184,769 (GRCm39)	Y367H	probably benign	Het
H1f9	T	A	11: 94,858,858 (GRCm39)	V51E	probably damaging	Het
Hivep1	G	A	13: 42,310,969 (GRCm39)	A1070T	probably benign	Het
Il33	A	G	19: 29,934,304 (GRCm39)	D155G	possibly damaging	Het
Kdm6b	T	C	11: 69,297,129 (GRCm39)	S408G	probably null	Het
Kntc1	A	G	5: 123,948,874 (GRCm39)		probably null	Het
Kntc1	G	A	5: 123,897,162 (GRCm39)		probably null	Het
Ltbp2	T	G	12: 84,855,220 (GRCm39)		probably null	Het
Mapk8ip3	G	T	17: 25,133,562 (GRCm39)	L83I	probably damaging	Het
Meltf	C	A	16: 31,711,440 (GRCm39)	Y554*	probably null	Het
Mov10	A	C	3: 104,706,735 (GRCm39)	F725C	probably damaging	Het
Ms4a6d	A	C	19: 11,567,523 (GRCm39)	L18R	probably damaging	Het
Naip2	T	C	13: 100,298,515 (GRCm39)	N507S	probably benign	Het
Nodal	A	G	10: 61,254,113 (GRCm39)	Q12R	probably benign	Het
Npy6r	T	C	18: 44,409,575 (GRCm39)	L332P	probably damaging	Het
Nrxn3	A	G	12: 89,227,181 (GRCm39)	K272R	possibly damaging	Het
Obox2	G	T	7: 15,131,174 (GRCm39)	K93N	probably benign	Het
Or10j27	C	T	1: 172,958,418 (GRCm39)	R122H	possibly damaging	Het
Or51a6	G	T	7: 102,603,953 (GRCm39)	P285Q	probably damaging	Het
Or5b112	A	G	19: 13,319,178 (GRCm39)	T19A	possibly damaging	Het
Or5w13	C	T	2: 87,523,777 (GRCm39)	V150M	probably benign	Het
Pcdh12	T	A	18: 38,415,196 (GRCm39)	D643V	possibly damaging	Het
Pcsk2	A	G	2: 143,529,539 (GRCm39)	D112G	probably benign	Het
Pms1	A	G	1: 53,234,174 (GRCm39)	S781P	probably benign	Het
Prtg	A	G	9: 72,752,178 (GRCm39)	D188G	probably benign	Het
Psg21	A	T	7: 18,388,695 (GRCm39)	N132K	probably benign	Het
Psip1	A	G	4: 83,400,769 (GRCm39)	V25A	probably damaging	Het
Psmd13	T	A	7: 140,478,107 (GRCm39)	I319N	probably damaging	Het
Ptges2	A	G	2: 32,290,104 (GRCm39)	T173A	probably benign	Het
Ptprm	G	A	17: 67,054,155 (GRCm39)	R975W	probably damaging	Het
Rdh1	A	G	10: 127,601,214 (GRCm39)	D254G	probably benign	Het
Rnf138	T	G	18: 21,157,540 (GRCm39)	N212K	probably damaging	Het
Serpine2	A	G	1: 79,799,159 (GRCm39)	S32P	probably damaging	Het
Serpini1	G	T	3: 75,521,971 (GRCm39)	W154L	probably damaging	Het
Sf3a1	C	A	11: 4,129,177 (GRCm39)	Q713K	possibly damaging	Het
Sgo2b	A	T	8: 64,379,867 (GRCm39)	H988Q	probably benign	Het
Sin3a	T	C	9: 57,008,483 (GRCm39)	F468L	probably damaging	Het
Slamf6	A	T	1: 171,761,776 (GRCm39)	I66F	possibly damaging	Het
Slc22a28	A	T	19: 8,094,488 (GRCm39)	C178S	possibly damaging	Het
Slc35a1	A	C	4: 34,675,181 (GRCm39)	V119G	probably damaging	Het
Slc39a12	A	T	2: 14,439,030 (GRCm39)	H428L	probably damaging	Het
Speer2	A	G	16: 69,654,965 (GRCm39)	S167P	probably benign	Het
Sphkap	G	A	1: 83,255,236 (GRCm39)	R838*	probably null	Het
Spsb2	T	C	6: 124,786,329 (GRCm39)		probably null	Het
Stam2	A	T	2: 52,593,168 (GRCm39)	Y341*	probably null	Het
Sv2b	G	A	7: 74,856,089 (GRCm39)	A67V	probably benign	Het
Svep1	A	G	4: 58,064,170 (GRCm39)		probably null	Het
Syt15	A	T	14: 33,944,969 (GRCm39)	Q172L	probably benign	Het
T	G	A	17: 8,660,634 (GRCm39)	S415N	probably benign	Het
Tep1	A	G	14: 51,061,641 (GRCm39)	F2625S	possibly damaging	Het
Tex14	T	C	11: 87,427,581 (GRCm39)	V11A	possibly damaging	Het
Tiam2	A	T	17: 3,465,401 (GRCm39)	R377*	probably null	Het
Tirap	A	G	9: 35,102,312 (GRCm39)		probably null	Het
Tm4sf20	T	C	1: 82,737,938 (GRCm39)	T118A	probably benign	Het
Trank1	A	T	9: 111,207,900 (GRCm39)	Q1715L	probably benign	Het
Trpm2	C	T	10: 77,783,823 (GRCm39)	V217M	probably damaging	Het
Ubap1l	G	A	9: 65,279,078 (GRCm39)	E126K	possibly damaging	Het
Urgcp	G	T	11: 5,666,526 (GRCm39)	P604Q	probably damaging	Het
Vmn1r63	A	G	7: 5,806,254 (GRCm39)	V126A	probably benign	Het
Vmn2r90	T	C	17: 17,933,525 (GRCm39)	C362R	probably damaging	Het
Vmn2r96	A	G	17: 18,804,138 (GRCm39)	I271V	probably damaging	Het
Vps13a	A	T	19: 16,699,822 (GRCm39)	I740K	probably benign	Het
Vps13c	A	G	9: 67,883,138 (GRCm39)	T3562A	probably damaging	Het
Wdr91	T	A	6: 34,869,297 (GRCm39)	H409L	probably damaging	Het
Wnt7a	T	A	6: 91,342,938 (GRCm39)	T315S	possibly damaging	Het
Zfp616	A	G	11: 73,975,795 (GRCm39)	H688R	probably benign	Het
Zfp763	A	T	17: 33,237,413 (GRCm39)	H577Q	probably damaging	Het
Zfp808	G	A	13: 62,320,721 (GRCm39)	S650N	probably benign	Het
Zfp977	A	T	7: 42,229,409 (GRCm39)	M372K	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
R1483:Eif3a	UTSW	19	60,757,164 (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
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'- CATTTTACCTTGTTGGGCGATATC -3'
(R):5'- ATGTACTTCAGGAACCATGTAAGC -3'

Sequencing Primer
(F):5'- TCATGGTAAAGGCGCTCTAC -3'
(R):5'- ATTCCTTGGAGTGGAACATGC -3'

Posted On

2014-08-25