Mutagenetix > Incidental Mutation

Incidental Mutation 'R0358:Eftud2'

29954

Institutional Source

Beutler Lab

Gene Symbol

Eftud2

Ensembl Gene

ENSMUSG00000020929

Gene Name

elongation factor Tu GTP binding domain containing 2

Synonyms

116kDa, Snrp116, U5-116kD

MMRRC Submission

038564-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0358 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

102838473-102880985 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 102864801 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000134327 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021306] [ENSMUST00000107060] [ENSMUST00000138483] [ENSMUST00000173679]

AlphaFold

O08810

Predicted Effect

probably benign
Transcript: ENSMUST00000021306

SMART Domains

Protein: ENSMUSP00000021306
Gene: ENSMUSG00000020929

Domain	Start	End	E-Value	Type
Pfam:EFTUD2	3	110	1.1e-42	PFAM
Pfam:GTP_EFTU	127	440	9.6e-47	PFAM
Pfam:GTP_EFTU_D2	489	566	3.8e-15	PFAM
Pfam:EFG_II	584	656	9.9e-11	PFAM
EFG_IV	703	824	1.1e-16	SMART
EFG_C	826	915	1.14e-14	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000107060

SMART Domains

Protein: ENSMUSP00000102675
Gene: ENSMUSG00000020929

Domain	Start	End	E-Value	Type
low complexity region	16	26	N/A	INTRINSIC
low complexity region	32	50	N/A	INTRINSIC
Pfam:GTP_EFTU	126	439	9.6e-44	PFAM
Pfam:Miro	130	260	2.5e-6	PFAM
Pfam:GTP_EFTU_D2	488	565	7.9e-13	PFAM
Pfam:EFG_II	583	655	8.2e-10	PFAM
EFG_IV	702	823	1.1e-16	SMART
EFG_C	825	914	1.14e-14	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123833

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131678

Predicted Effect

probably benign
Transcript: ENSMUST00000138483

Predicted Effect

probably benign
Transcript: ENSMUST00000173679

SMART Domains

Protein: ENSMUSP00000134327
Gene: ENSMUSG00000020929

Domain	Start	End	E-Value	Type
low complexity region	16	26	N/A	INTRINSIC
low complexity region	29	51	N/A	INTRINSIC
Pfam:GTP_EFTU	127	430	2.2e-36	PFAM
Pfam:GTP_EFTU_D2	479	556	7.8e-13	PFAM
Pfam:EFG_II	574	646	8.1e-10	PFAM
EFG_IV	693	814	1.1e-16	SMART
EFG_C	816	905	1.14e-14	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173974

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181125

Coding Region Coverage

1x: 99.0%
3x: 97.9%
10x: 95.2%
20x: 88.5%

Validation Efficiency

100% (64/64)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a GTPase which is a component of the spliceosome complex which processes precursor mRNAs to produce mature mRNAs. Mutations in this gene are associated with mandibulofacial dysostosis with microcephaly. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921513D11Rik	G	A	17: 79,628,156		probably benign	Het
4932431P20Rik	A	T	7: 29,532,211		noncoding transcript	Het
Abca16	A	T	7: 120,544,716	K1651N	probably benign	Het
Abcb1b	T	C	5: 8,821,423	S326P	probably benign	Het
Ache	A	G	5: 137,290,373	T114A	probably benign	Het
Akap3	T	A	6: 126,866,812	V798D	probably damaging	Het
Ankle1	A	G	8: 71,407,545	T256A	probably damaging	Het
Aqp4	T	C	18: 15,398,245	N153S	probably benign	Het
Arhgap23	G	A	11: 97,463,588	V265M	probably damaging	Het
Arhgef25	A	T	10: 127,184,453	M326K	probably damaging	Het
Atp6v1c2	T	C	12: 17,284,960		probably benign	Het
Cars	A	T	7: 143,588,482		probably benign	Het
Cep83	A	T	10: 94,719,731	M96L	probably benign	Het
Cfap46	A	G	7: 139,651,533		probably benign	Het
Cnnm3	T	A	1: 36,521,222	S608T	probably damaging	Het
Cul7	G	A	17: 46,663,744		probably null	Het
Dhrs2	G	A	14: 55,236,117	V78M	probably damaging	Het
Dhx38	A	T	8: 109,552,462	D1051E	probably benign	Het
Egln3	T	C	12: 54,203,296	E89G	possibly damaging	Het
Eif2ak4	A	G	2: 118,463,929		probably null	Het
Fbxl17	G	A	17: 63,356,851	R67C	probably damaging	Het
Fsip2	A	T	2: 82,983,333	N3332I	possibly damaging	Het
Gbp2b	A	T	3: 142,606,789	E311V	probably damaging	Het
Gcnt2	G	T	13: 40,860,853	A167S	probably damaging	Het
Gm9797	A	T	10: 11,609,344		noncoding transcript	Het
Gpatch3	A	G	4: 133,577,904		probably null	Het
Gpr22	T	C	12: 31,709,982	N47S	probably benign	Het
Il18rap	A	T	1: 40,549,042	H600L	possibly damaging	Het
Larp7	A	G	3: 127,547,088		probably null	Het
Mep1a	A	G	17: 43,478,950	Y490H	possibly damaging	Het
Mrgprh	T	A	17: 12,877,350	V159D	probably damaging	Het
Mylk	G	C	16: 34,879,475	E403Q	possibly damaging	Het
Nrbp1	T	A	5: 31,244,887	I64N	probably damaging	Het
Nup214	G	A	2: 32,004,300		probably null	Het
Olfr1394	T	A	11: 49,160,244	C77S	probably benign	Het
Olfr149	A	G	9: 39,702,001	I256T	possibly damaging	Het
Olfr532	G	T	7: 140,418,943	L277M	probably damaging	Het
Olfr725	A	T	14: 50,035,286	L39Q	probably damaging	Het
Pef1	A	G	4: 130,127,387	T245A	probably damaging	Het
Phrf1	A	G	7: 141,258,304		probably benign	Het
Ppig	A	G	2: 69,743,598		probably benign	Het
Ppp1r8	G	T	4: 132,834,728	F60L	probably damaging	Het
Psmd11	G	A	11: 80,462,684		probably benign	Het
Ptk6	G	T	2: 181,198,522	H230Q	probably benign	Het
Ptprd	T	C	4: 75,944,989	Y1496C	probably damaging	Het
Rhbdl3	G	T	11: 80,353,631	W388L	probably damaging	Het
Rnf130	T	A	11: 50,071,282	M185K	probably benign	Het
S100a13	A	T	3: 90,515,992	I97F	probably damaging	Het
Slc22a16	T	G	10: 40,587,492		probably null	Het
Tcte1	A	T	17: 45,535,285	T272S	probably benign	Het
Terf1	T	C	1: 15,805,838	V54A	possibly damaging	Het
Tmem63a	T	A	1: 180,956,423	N189K	probably benign	Het
Trim32	G	A	4: 65,613,254	R16Q	probably damaging	Het
Trim66	G	A	7: 109,460,176	Q954*	probably null	Het
Trpv4	A	G	5: 114,630,432	F525S	probably damaging	Het
Ttll7	A	G	3: 146,944,116	T634A	probably benign	Het
Ush2a	T	G	1: 188,537,780	N1741K	possibly damaging	Het
Zcchc6	T	C	13: 59,782,104	D47G	probably damaging	Het
Zfp451	T	A	1: 33,777,729	H163L	probably damaging	Het

Other mutations in Eftud2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01448:Eftud2	APN	11	102865563	splice site	probably benign
IGL01765:Eftud2	APN	11	102839256	missense	probably damaging	0.99
IGL01868:Eftud2	APN	11	102869127	missense	probably benign	0.08
IGL02161:Eftud2	APN	11	102854876	splice site	probably benign
IGL02165:Eftud2	APN	11	102851747	splice site	probably benign
IGL02218:Eftud2	APN	11	102870213	missense	possibly damaging	0.46
IGL02386:Eftud2	APN	11	102851754	splice site	probably null
IGL02664:Eftud2	APN	11	102841712	missense	probably damaging	1.00
IGL02677:Eftud2	APN	11	102846614	missense	probably damaging	1.00
IGL02792:Eftud2	APN	11	102870256	splice site	probably benign
IGL02870:Eftud2	APN	11	102862626	missense	probably damaging	0.97
IGL03131:Eftud2	APN	11	102870183	missense	probably damaging	1.00
R0137:Eftud2	UTSW	11	102868617	missense	possibly damaging	0.94
R0244:Eftud2	UTSW	11	102864725	missense	probably damaging	0.97
R0463:Eftud2	UTSW	11	102864771	missense	probably damaging	1.00
R0511:Eftud2	UTSW	11	102844222	missense	probably damaging	1.00
R0525:Eftud2	UTSW	11	102839253	missense	probably damaging	1.00
R0586:Eftud2	UTSW	11	102846620	missense	probably damaging	1.00
R0751:Eftud2	UTSW	11	102839253	missense	probably damaging	1.00
R1034:Eftud2	UTSW	11	102849184	missense	probably benign
R1079:Eftud2	UTSW	11	102840044	nonsense	probably null
R1208:Eftud2	UTSW	11	102864766	missense	probably benign	0.22
R1208:Eftud2	UTSW	11	102864766	missense	probably benign	0.22
R1220:Eftud2	UTSW	11	102851747	splice site	probably benign
R1438:Eftud2	UTSW	11	102860042	missense	probably damaging	1.00
R1520:Eftud2	UTSW	11	102839440	missense	probably damaging	1.00
R1569:Eftud2	UTSW	11	102854771	splice site	probably benign
R2270:Eftud2	UTSW	11	102864781	missense	probably damaging	1.00
R3500:Eftud2	UTSW	11	102844180	missense	probably damaging	1.00
R3686:Eftud2	UTSW	11	102844201	missense	probably damaging	1.00
R3687:Eftud2	UTSW	11	102844201	missense	probably damaging	1.00
R3688:Eftud2	UTSW	11	102844201	missense	probably damaging	1.00
R3808:Eftud2	UTSW	11	102841463	splice site	probably null
R3892:Eftud2	UTSW	11	102846187	missense	probably damaging	0.99
R4003:Eftud2	UTSW	11	102860110	missense	possibly damaging	0.51
R4091:Eftud2	UTSW	11	102839416	splice site	probably null
R4794:Eftud2	UTSW	11	102870177	missense	probably benign	0.14
R4841:Eftud2	UTSW	11	102854814	missense	probably damaging	1.00
R4842:Eftud2	UTSW	11	102854814	missense	probably damaging	1.00
R5151:Eftud2	UTSW	11	102867844	critical splice donor site	probably null
R5208:Eftud2	UTSW	11	102841185	missense	probably damaging	1.00
R6199:Eftud2	UTSW	11	102840057	missense	probably damaging	1.00
R6357:Eftud2	UTSW	11	102864780	missense	probably damaging	1.00
R6720:Eftud2	UTSW	11	102838623	nonsense	probably null
R7604:Eftud2	UTSW	11	102848012	missense	possibly damaging	0.87
R7886:Eftud2	UTSW	11	102840108	missense	probably damaging	1.00
R8017:Eftud2	UTSW	11	102843348	critical splice donor site	probably null
R8019:Eftud2	UTSW	11	102843348	critical splice donor site	probably null
R8139:Eftud2	UTSW	11	102867859	missense	probably benign	0.04
R8431:Eftud2	UTSW	11	102846236	missense	probably benign	0.08
R8545:Eftud2	UTSW	11	102840271	missense	probably damaging	1.00
R8676:Eftud2	UTSW	11	102868621	missense	probably damaging	1.00
R9089:Eftud2	UTSW	11	102869145	missense	probably benign
R9173:Eftud2	UTSW	11	102843416	missense	probably damaging	1.00
R9277:Eftud2	UTSW	11	102860029	missense	probably damaging	1.00
R9313:Eftud2	UTSW	11	102839436	missense	probably benign	0.03
R9604:Eftud2	UTSW	11	102846230	missense	probably benign	0.11
R9664:Eftud2	UTSW	11	102868596	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ACAAACTTGCATGTGTCCTGGCTC -3'
(R):5'- ATCTGGCAGACTTGCCTTCAGTG -3'

Sequencing Primer
(F):5'- GTCCTGGCTCTCAGAAGAATTAG -3'
(R):5'- ACCTGTCAGACTAAATTGGTGTG -3'

Posted On

2013-04-24