Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02165:Eftud2'

282684

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Eftud2

Ensembl Gene

ENSMUSG00000020929

Gene Name

elongation factor Tu GTP binding domain containing 2

Synonyms

116kDa, Snrp116, U5-116kD

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02165

Quality Score

Status

Chromosome

Chromosomal Location

102838473-102880985 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 102851747 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000134327 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021306] [ENSMUST00000107060] [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: ENSMUST00000131678

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141273

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

Coding Region Coverage

Validation Efficiency

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	T	A	19: 31,927,186	M199K	possibly damaging	Het
Abo	C	A	2: 26,843,429	V255L	probably damaging	Het
Alas1	A	T	9: 106,238,783	M344K	probably damaging	Het
Ap1m1	A	G	8: 72,249,809	I118V	probably benign	Het
Ap5m1	A	T	14: 49,078,728	I252F	possibly damaging	Het
Arhgef2	G	A	3: 88,646,220	R886H	probably damaging	Het
Atp13a4	T	C	16: 29,434,010	E706G	probably damaging	Het
Baz2a	C	A	10: 128,119,349	A775E	probably benign	Het
C3	A	T	17: 57,225,092	F210I	probably benign	Het
Casq1	A	G	1: 172,213,381	L280P	probably damaging	Het
Cebpz	A	G	17: 78,922,169	F919L	probably damaging	Het
Dclre1c	T	A	2: 3,450,381		probably benign	Het
Dsc3	T	G	18: 19,983,652	M276L	probably benign	Het
Elfn2	T	A	15: 78,673,418	T310S	probably benign	Het
Ep300	A	G	15: 81,641,391	K1472R	probably benign	Het
Fbxl2	T	C	9: 114,018,031	D8G	probably benign	Het
Galnt5	T	A	2: 57,998,865	M159K	probably benign	Het
Gm10260	T	G	13: 97,760,140	K150T	probably benign	Het
Gm28048	A	T	11: 22,982,072		probably benign	Het
Hars2	T	A	18: 36,783,394	M1K	probably null	Het
Hk1	T	C	10: 62,281,888	T619A	probably damaging	Het
Ifi44	C	T	3: 151,749,430	V53M	probably damaging	Het
Ippk	T	A	13: 49,446,535	V339D	possibly damaging	Het
Kcnma1	G	T	14: 23,336,967	N875K	possibly damaging	Het
Kdm5a	T	A	6: 120,415,290	V991E	probably damaging	Het
Larp6	A	G	9: 60,713,312	E36G	probably benign	Het
Lonp2	A	T	8: 86,709,026	D210V	probably damaging	Het
Lrrc4c	G	A	2: 97,629,033	M1I	probably null	Het
Mmp2	A	G	8: 92,833,219	K270R	probably null	Het
Nexmif	C	T	X: 104,084,754	V1186I	probably benign	Het
Olfr54	A	T	11: 51,027,643	I214F	probably benign	Het
Olfr744	A	G	14: 50,619,011	Y263C	probably damaging	Het
Pld2	T	C	11: 70,555,677	L763P	probably damaging	Het
Pold1	A	T	7: 44,538,060	F644L	probably damaging	Het
Prrc2b	T	C	2: 32,214,640	S1377P	probably damaging	Het
Rttn	A	G	18: 89,043,041	D1111G	probably benign	Het
Slc27a5	A	G	7: 12,994,948	V130A	probably damaging	Het
Slfn8	T	C	11: 83,017,196	R174G	probably benign	Het
Slitrk6	G	A	14: 110,751,817	P153S	probably benign	Het
Sorcs3	T	C	19: 48,654,072	I388T	probably benign	Het
Star	A	T	8: 25,812,815	T262S	possibly damaging	Het
Strn	A	T	17: 78,687,620	W2R	probably damaging	Het
Tnmd	T	C	X: 133,862,952	S172P	probably damaging	Het
Togaram2	A	G	17: 71,697,866	K305R	probably benign	Het
Trhde	C	A	10: 114,592,161	W410L	probably damaging	Het
Trim5	C	T	7: 104,279,359	R125Q	probably damaging	Het
Unc45b	C	T	11: 82,940,181		probably benign	Het
Vmn1r80	T	A	7: 12,193,452	M163K	probably benign	Het
Wdr34	T	C	2: 30,032,160	T430A	probably benign	Het
Wnk4	C	A	11: 101,275,291		probably benign	Het
Zfp277	T	A	12: 40,315,803	I430F	possibly damaging	Het
Zfp566	A	T	7: 30,077,830	C309S	probably damaging	Het
Zfp740	T	G	15: 102,212,674	F141V	possibly damaging	Het
Zfp87	T	A	13: 67,517,870	I158F	probably damaging	Het
Zswim3	C	A	2: 164,821,115	A505D	possibly 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
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
R0358:Eftud2	UTSW	11	102864801	splice site	probably benign
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

Posted On

2015-04-16