Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02664:Eftud2'

302654

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 #

IGL02664

Quality Score

Status

Chromosome

Chromosomal Location

102838473-102880985 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 102841712 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 691 (E691G)

Ref Sequence

ENSEMBL: ENSMUSP00000134327 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021302] [ENSMUST00000021306] [ENSMUST00000107060] [ENSMUST00000107072] [ENSMUST00000107073] [ENSMUST00000173679]

AlphaFold

O08810

Predicted Effect

probably benign
Transcript: ENSMUST00000021302

SMART Domains

Protein: ENSMUSP00000021302
Gene: ENSMUSG00000020928

Domain	Start	End	E-Value	Type
Pfam:HIG_1_N	25	79	1.5e-22	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000021306
AA Change: E701G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000021306
Gene: ENSMUSG00000020929
AA Change: E701G

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: E700G

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000102675
Gene: ENSMUSG00000020929
AA Change: E700G

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

probably benign
Transcript: ENSMUST00000107072

SMART Domains

Protein: ENSMUSP00000102687
Gene: ENSMUSG00000020928

Domain	Start	End	E-Value	Type
Pfam:HIG_1_N	25	79	1.5e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107073

SMART Domains

Protein: ENSMUSP00000102688
Gene: ENSMUSG00000020928

Domain	Start	End	E-Value	Type
Pfam:HIG_1_N	25	79	1.5e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000132543

SMART Domains

Protein: ENSMUSP00000133732
Gene: ENSMUSG00000020929

Domain	Start	End	E-Value	Type
Pfam:EFG_IV	1	65	2.9e-18	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141273

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143323

Predicted Effect

probably benign
Transcript: ENSMUST00000172611

SMART Domains

Protein: ENSMUSP00000134316
Gene: ENSMUSG00000020929

Domain	Start	End	E-Value	Type
low complexity region	85	98	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000173679
AA Change: E691G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000134327
Gene: ENSMUSG00000020929
AA Change: E691G

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim2	A	T	5: 35,849,516	D425V	probably damaging	Het
Afdn	G	T	17: 13,852,466		probably benign	Het
Ap2a2	C	T	7: 141,629,223	T776I	probably benign	Het
Apcdd1	T	C	18: 62,951,820		probably benign	Het
Bdp1	A	T	13: 100,051,539	Y1513N	probably benign	Het
Btaf1	T	C	19: 36,978,428		probably benign	Het
C2cd3	A	T	7: 100,419,715	M917L	possibly damaging	Het
Cmtm6	T	C	9: 114,746,545	V174A	probably benign	Het
Cyp2d12	T	A	15: 82,559,334	I448K	probably benign	Het
Ddb1	A	G	19: 10,607,883	I101V	probably benign	Het
Dicer1	A	G	12: 104,705,129	Y961H	probably damaging	Het
Dnaaf1	T	G	8: 119,582,521	I116S	probably damaging	Het
Ecscr	T	A	18: 35,721,398	I5F	possibly damaging	Het
Fat2	A	G	11: 55,311,096	V384A	probably damaging	Het
Ftcd	T	C	10: 76,584,605	M391T	probably damaging	Het
Gab2	T	G	7: 97,304,182	S587R	probably damaging	Het
Gm18856	G	A	13: 13,965,224		probably benign	Het
Herc2	A	T	7: 56,135,678	R1559*	probably null	Het
Inpp5f	G	A	7: 128,664,014	R161H	probably damaging	Het
Iws1	A	T	18: 32,070,164	D31V	possibly damaging	Het
Klhl2	A	T	8: 64,752,767	Y373*	probably null	Het
Lce6a	A	T	3: 92,620,300	C67S	possibly damaging	Het
Lrba	A	G	3: 86,325,731	I800V	possibly damaging	Het
Mis18bp1	A	C	12: 65,153,880	Y407*	probably null	Het
Mllt3	A	C	4: 88,031,623	W29G	probably damaging	Het
Mon2	A	G	10: 123,009,496		probably benign	Het
Mtbp	C	T	15: 55,619,643	T372M	probably benign	Het
Nefm	A	T	14: 68,120,215		probably benign	Het
Nf1	A	T	11: 79,444,598		probably null	Het
Nf1	G	A	11: 79,444,599		probably null	Het
Ntn1	T	A	11: 68,385,469	I218F	probably benign	Het
Numa1	T	G	7: 101,998,902	S613R	possibly damaging	Het
Olfr305	C	T	7: 86,363,603	V245I	possibly damaging	Het
Pcsk5	A	T	19: 17,456,770	D1411E	probably damaging	Het
Ppp1r32	A	T	19: 10,482,291	S17R	probably damaging	Het
Prl2b1	G	T	13: 27,385,242	N124K	possibly damaging	Het
Rab15	T	C	12: 76,804,451	I30M	possibly damaging	Het
Rnf215	G	T	11: 4,140,307	V342L	probably damaging	Het
Spata5	A	G	3: 37,436,665	D453G	probably damaging	Het
Togaram2	T	A	17: 71,729,239	I908N	probably damaging	Het
Trim54	A	G	5: 31,136,047	N205S	probably damaging	Het
Ttn	G	A	2: 76,867,451	T80I	possibly damaging	Het
Vmn2r106	G	A	17: 20,268,082	T685I	possibly damaging	Het
Vwa5b2	T	C	16: 20,595,313		probably benign	Het
Zfat	A	T	15: 68,180,721	I401N	probably damaging	Het
Zfp40	G	A	17: 23,176,986	S209F	probably benign	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
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