Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02218:Eftud2'

284980

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 #

IGL02218

Quality Score

Status

Chromosome

Chromosomal Location

102838473-102880985 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 102870213 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 102 (F102Y)

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
AA Change: F102Y

PolyPhen 2 Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000021306
Gene: ENSMUSG00000020929
AA Change: F102Y

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

possibly damaging
Transcript: ENSMUST00000107060
AA Change: F101Y

PolyPhen 2 Score 0.459 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000102675
Gene: ENSMUSG00000020929
AA Change: F101Y

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

probably benign
Transcript: ENSMUST00000138483

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147368

Predicted Effect

possibly damaging
Transcript: ENSMUST00000173679
AA Change: F102Y

PolyPhen 2 Score 0.464 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000134327
Gene: ENSMUSG00000020929
AA Change: F102Y

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

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
5730409E04Rik	A	G	4: 126,612,045	D122G	probably benign	Het
Abcc8	T	C	7: 46,120,436	D885G	probably benign	Het
Abcf1	T	C	17: 35,958,338	K676R	probably benign	Het
Acsf2	A	G	11: 94,601,763	V3A	probably benign	Het
Apba2	C	T	7: 64,695,677	T205I	probably benign	Het
Bricd5	C	A	17: 24,475,322	Y171*	probably null	Het
Camk2d	T	G	3: 126,840,153	N441K	probably benign	Het
Carm1	T	C	9: 21,569,512	V94A	probably damaging	Het
Chd3	C	T	11: 69,352,094		probably benign	Het
Cipc	A	G	12: 86,961,928	N166S	probably damaging	Het
Cln5	A	C	14: 103,075,840		probably null	Het
Cnbd1	C	A	4: 18,887,739	Q258H	probably benign	Het
Cyp8b1	A	G	9: 121,915,117	L383P	probably damaging	Het
Dok3	A	G	13: 55,523,786	L324P	probably damaging	Het
Ewsr1	G	A	11: 5,070,668	P551S	unknown	Het
Fam193a	G	T	5: 34,443,588	V346L	possibly damaging	Het
Fam46b	C	T	4: 133,486,151	A111V	probably damaging	Het
Golim4	A	G	3: 75,878,054	S677P	probably damaging	Het
Gpr149	A	G	3: 62,530,531		probably benign	Het
Ins1	A	T	19: 52,264,683	K20N	probably benign	Het
Itpr2	A	T	6: 146,240,262		probably benign	Het
Jup	G	A	11: 100,381,839	T249I	probably damaging	Het
Kctd20	T	A	17: 28,957,903	N2K	probably benign	Het
Kif15	A	G	9: 122,995,827		probably benign	Het
Klrb1-ps1	T	C	6: 129,129,306		noncoding transcript	Het
Krtap29-1	T	C	11: 99,979,058		probably null	Het
Lamb3	A	T	1: 193,328,633		probably null	Het
Large1	A	G	8: 72,912,122	W276R	probably damaging	Het
Lrp1b	T	C	2: 41,295,672	N603D	probably benign	Het
Lrrc37a	A	G	11: 103,500,381	V1406A	probably benign	Het
Lrrc74a	A	G	12: 86,749,048	D265G	probably benign	Het
Lrrfip2	G	A	9: 111,219,725	C250Y	probably benign	Het
Mbtd1	A	G	11: 93,931,803		probably benign	Het
Msr1	A	G	8: 39,589,316	V406A	possibly damaging	Het
Mtfr1l	C	T	4: 134,529,180	D225N	probably benign	Het
Nckap1l	T	A	15: 103,483,527	S796R	possibly damaging	Het
Oaf	T	A	9: 43,224,922	H119L	probably benign	Het
Olfr464	A	T	11: 87,914,063	M281K	probably damaging	Het
Pik3c2g	A	T	6: 139,860,355	H516L	probably damaging	Het
Pkd1l3	A	T	8: 109,660,802	I1793F	possibly damaging	Het
Ptpra	A	G	2: 130,552,335		probably benign	Het
Slc25a27	C	T	17: 43,664,073		probably null	Het
Slc2a2	A	T	3: 28,698,025	E3D	possibly damaging	Het
Slc35f5	T	C	1: 125,584,555	F14S	probably damaging	Het
Sspn	T	C	6: 145,961,386	V105A	probably damaging	Het
Syvn1	T	C	19: 6,050,199	I263T	probably damaging	Het
Tek	A	C	4: 94,855,337	D863A	probably damaging	Het
Tm9sf4	G	T	2: 153,204,616	V592F	probably benign	Het
Tmem259	A	G	10: 79,978,317	M354T	possibly damaging	Het
Ttf2	T	C	3: 100,964,093	E84G	possibly damaging	Het
Ttyh3	T	C	5: 140,626,491	E487G	probably damaging	Het
Ubtf	C	A	11: 102,306,700	E709*	probably null	Het
Vmn1r119	T	C	7: 21,011,636	R274G	probably benign	Het
Wdr78	A	G	4: 103,096,774	V76A	probably damaging	Het
Zfp804a	A	G	2: 82,259,202	Q1125R	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
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