Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02792:Eftud2'

359817

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 #

IGL02792

Quality Score

Status

Chromosome

Chromosomal Location

102838473-102880985 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 102870256 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

probably benign
Transcript: ENSMUST00000138483

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147368

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

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700067P10Rik	G	A	17: 48,090,587	V131M	probably benign	Het
Abca6	A	T	11: 110,188,681	C1216S	probably damaging	Het
Acly	T	C	11: 100,478,410	K1018E	probably damaging	Het
Acsl5	G	A	19: 55,293,731		probably null	Het
Adgrb1	C	A	15: 74,547,622	L771I	probably damaging	Het
Adh7	A	T	3: 138,223,737	K89I	probably damaging	Het
Adora2b	A	T	11: 62,265,483	I253F	possibly damaging	Het
Akna	G	A	4: 63,377,706	P975S	possibly damaging	Het
Alg9	T	C	9: 50,842,748	L576P	possibly damaging	Het
Arhgap20	A	G	9: 51,849,918	E1023G	possibly damaging	Het
Astn2	A	T	4: 65,644,821	S908T	probably benign	Het
Atp1a4	C	T	1: 172,227,299		probably null	Het
Cabin1	T	C	10: 75,746,739	Y281C	probably damaging	Het
Cdc42bpb	G	T	12: 111,299,561	F1312L	probably benign	Het
Cfap65	A	C	1: 74,927,178	F330C	probably damaging	Het
Col27a1	C	T	4: 63,315,583	P689S	unknown	Het
Col4a3	A	T	1: 82,718,803	K1643N	probably damaging	Het
Dopey2	T	A	16: 93,801,572	V1875D	possibly damaging	Het
Ergic3	C	A	2: 156,017,850	T357K	probably damaging	Het
Glra1	A	T	11: 55,536,400	D36E	probably damaging	Het
Gpatch1	A	G	7: 35,301,593	Y330H	probably damaging	Het
Hmcn2	T	C	2: 31,346,590	S382P	probably damaging	Het
Kat6a	G	A	8: 22,938,300	E1224K	probably damaging	Het
Klk13	A	G	7: 43,721,414	E29G	possibly damaging	Het
Klra9	T	C	6: 130,188,680	D124G	probably benign	Het
Lrmda	T	C	14: 22,019,910		probably null	Het
Ltbp1	G	A	17: 75,282,994	V539M	probably damaging	Het
Ngfr	A	C	11: 95,571,861	L317R	probably damaging	Het
Nlrp6	C	A	7: 140,922,435	H151Q	probably damaging	Het
Nnt	A	G	13: 119,357,646	L633P	probably damaging	Het
Nxpe3	C	T	16: 55,866,172	V158M	probably damaging	Het
Olfr266	T	C	3: 106,822,140	T140A	probably damaging	Het
Olfr716	T	C	7: 107,148,218	F301L	probably benign	Het
Olfr828	C	T	9: 18,815,958	S112N	probably benign	Het
Pla2g4f	T	C	2: 120,303,369	Y517C	probably damaging	Het
Poc1a	A	T	9: 106,295,194	I207F	possibly damaging	Het
Polr2a	A	G	11: 69,746,112	S338P	probably damaging	Het
Ptprz1	T	C	6: 22,959,723	V73A	probably damaging	Het
Relb	A	T	7: 19,613,864	L281Q	probably damaging	Het
Rrp8	A	T	7: 105,733,811	L382*	probably null	Het
Setd1a	C	T	7: 127,791,350	S523F	unknown	Het
Slamf8	A	G	1: 172,588,130	I47T	probably damaging	Het
Slc16a4	G	A	3: 107,298,877	A88T	probably benign	Het
Sox6	C	T	7: 115,541,649	M532I	probably benign	Het
Tcp11l1	T	A	2: 104,681,820	Y489F	probably benign	Het
Tdrd6	T	G	17: 43,625,027	D1710A	probably benign	Het
Trim58	C	T	11: 58,640,466		probably benign	Het
Vangl1	A	T	3: 102,163,423	I399N	probably damaging	Het
Vmn1r201	T	C	13: 22,474,844	L76P	probably damaging	Het
Vmn1r58	T	C	7: 5,411,229	M1V	probably null	Het
Wdfy4	T	C	14: 33,095,305	I1561V	probably benign	Het
Xkr9	A	G	1: 13,700,803	D181G	probably damaging	Het
Zfp318	T	C	17: 46,409,178	F1101L	probably damaging	Het
Zfpm2	C	A	15: 41,103,013	Q833K	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
IGL02664:Eftud2	APN	11	102841712	missense	probably damaging	1.00
IGL02677:Eftud2	APN	11	102846614	missense	probably damaging	1.00
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

2015-12-18