Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01448:Eftud2'

84540

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 #

IGL01448

Quality Score

Status

Chromosome

Chromosomal Location

102838473-102880985 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 102865563 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
1700020A23Rik	A	T	2: 130,405,847	E75D	possibly damaging	Het
1700084J12Rik	A	G	15: 33,405,633		probably benign	Het
2610303G11Rik	T	A	9: 98,186,709		noncoding transcript	Het
4931414P19Rik	T	C	14: 54,585,960	D320G	possibly damaging	Het
Adamts6	G	A	13: 104,297,164	E34K	probably damaging	Het
Alms1	T	A	6: 85,677,899	N3142K	possibly damaging	Het
Anapc7	G	A	5: 122,428,213	A62T	probably damaging	Het
Atp8b3	G	A	10: 80,520,422	P1152L	probably benign	Het
Cc2d2a	C	T	5: 43,684,185	T181I	possibly damaging	Het
Celsr2	A	G	3: 108,393,239	L2835P	probably damaging	Het
Ctns	A	T	11: 73,188,722	V99D	possibly damaging	Het
Dchs1	T	C	7: 105,771,927	R429G	probably damaging	Het
Ddx11	T	C	17: 66,134,137	V218A	probably damaging	Het
Erich1	G	T	8: 14,078,853	T29N	possibly damaging	Het
Exosc8	T	C	3: 54,729,265	E215G	probably damaging	Het
Fam184a	G	T	10: 53,698,949	A188E	probably benign	Het
Fign	A	G	2: 63,979,688	S413P	probably damaging	Het
Fkbp6	A	G	5: 135,349,696	S33P	probably damaging	Het
Glb1	A	G	9: 114,450,677		probably benign	Het
H2-Q1	T	C	17: 35,323,461		probably benign	Het
Helz2	T	C	2: 181,233,977	T1575A	probably damaging	Het
Il18r1	A	G	1: 40,474,730	E32G	probably damaging	Het
Ints5	C	T	19: 8,895,487	P270L	possibly damaging	Het
Itga7	G	T	10: 128,949,468	E847*	probably null	Het
Kcns3	A	C	12: 11,091,643	S352A	possibly damaging	Het
Kiz	A	G	2: 146,863,801	K94E	probably benign	Het
Lin7b	C	T	7: 45,369,200	V12M	probably damaging	Het
Myo18b	A	T	5: 112,811,704	I1409N	probably damaging	Het
Myo5b	A	G	18: 74,644,090	H407R	probably damaging	Het
Nelfa	T	C	5: 33,898,802	T506A	probably damaging	Het
Olfr497	T	A	7: 108,423,028	Y152*	probably null	Het
Olfr763	A	G	10: 129,011,860	T192A	probably damaging	Het
Olfr816	A	G	10: 129,912,245	I11T	possibly damaging	Het
Olfr984	A	T	9: 40,101,082	M136K	probably damaging	Het
Pclo	A	C	5: 14,676,394		probably benign	Het
Pes1	G	A	11: 3,977,979	E544K	possibly damaging	Het
Rabgap1l	A	G	1: 160,740,745		probably benign	Het
Rapgef2	C	T	3: 79,103,962		probably null	Het
Rapgef2	T	C	3: 79,068,937	M1521V	probably benign	Het
Reln	A	G	5: 22,040,405	V735A	probably benign	Het
Slc2a4	A	G	11: 69,945,076	S316P	possibly damaging	Het
Smarce1	C	T	11: 99,210,187	G373E	possibly damaging	Het
Spata31d1a	T	A	13: 59,701,559	R918S	probably benign	Het
St3gal4	T	C	9: 35,052,331	K227R	probably benign	Het
Stra6l	T	A	4: 45,864,864		probably null	Het
Stxbp5l	T	C	16: 37,215,979	I425V	probably damaging	Het
Tcaf2	T	C	6: 42,630,328	T231A	probably benign	Het
Tiparp	G	T	3: 65,552,609	G442*	probably null	Het
Tnks	A	G	8: 34,839,982	Y1138H	probably damaging	Het
Vezt	T	A	10: 93,996,857	I231F	probably damaging	Het
Vmn2r4	A	T	3: 64,406,395	N388K	probably damaging	Het
Zbed3	A	G	13: 95,336,634	K189E	possibly damaging	Het
Zfp512b	T	C	2: 181,587,785	T625A	possibly damaging	Het
Zfp827	A	T	8: 79,060,733	Q176L	possibly damaging	Het

Other mutations in Eftud2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2013-11-11