Mutagenetix > Incidental Mutation

Incidental Mutation 'R1079:Eftud2'

85793

Institutional Source

Beutler Lab

Gene Symbol

Eftud2

Ensembl Gene

ENSMUSG00000020929

Gene Name

elongation factor Tu GTP binding domain containing 2

Synonyms

116kDa, Snrp116, U5-116kD

MMRRC Submission

039165-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1079 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

102838473-102880985 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 102840044 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 837 (Y837*)

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 null
Transcript: ENSMUST00000021306
AA Change: Y847*

SMART Domains

Protein: ENSMUSP00000021306
Gene: ENSMUSG00000020929
AA Change: Y847*

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 null
Transcript: ENSMUST00000107060
AA Change: Y846*

SMART Domains

Protein: ENSMUSP00000102675
Gene: ENSMUSG00000020929
AA Change: Y846*

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

unknown
Transcript: ENSMUST00000132543
AA Change: T75K

SMART Domains

Protein: ENSMUSP00000133732
Gene: ENSMUSG00000020929
AA Change: T75K

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 null
Transcript: ENSMUST00000173679
AA Change: Y837*

SMART Domains

Protein: ENSMUSP00000134327
Gene: ENSMUSG00000020929
AA Change: Y837*

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.6%

Validation Efficiency

98% (46/47)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002J24Rik	T	C	7: 30,699,784	M1T	probably null	Het
Adam25	T	C	8: 40,755,476	V593A	possibly damaging	Het
Agrn	C	T	4: 156,177,225	C536Y	probably damaging	Het
Amigo3	T	C	9: 108,053,852	M158T	probably benign	Het
Arsa	G	A	15: 89,474,225		probably benign	Het
Baz1a	T	A	12: 54,895,000	I1474L	possibly damaging	Het
Cfap65	G	A	1: 74,902,447	A1776V	probably damaging	Het
Cfap65	A	G	1: 74,905,713	V1455A	probably damaging	Het
Cnot6	G	T	11: 49,685,103	D176E	probably benign	Het
Crot	A	T	5: 8,993,504		probably null	Het
Cryba2	A	T	1: 74,890,558	V140E	probably damaging	Het
Dennd4b	G	A	3: 90,271,178	R516K	probably benign	Het
Dst	C	A	1: 34,186,863	T1697N	possibly damaging	Het
Evpl	G	T	11: 116,230,068	T447K	possibly damaging	Het
Fam183b	A	G	11: 58,801,794	Y36H	probably benign	Het
Fndc3a	A	T	14: 72,589,807	M146K	possibly damaging	Het
Folh1	G	T	7: 86,771,881	T80K	probably damaging	Het
Gm4922	T	A	10: 18,784,338	Y212F	probably damaging	Het
Gtf2i	T	G	5: 134,242,894		probably benign	Het
Hipk3	A	G	2: 104,471,698	F50L	probably benign	Het
Ifit1bl2	T	A	19: 34,619,485	T244S	probably benign	Het
Ikzf2	T	C	1: 69,539,105	D341G	possibly damaging	Het
Kif3a	G	C	11: 53,570,581	V17L	possibly damaging	Het
Lgr6	C	T	1: 134,994,010	A199T	probably damaging	Het
Lzts2	T	A	19: 45,023,544	N137K	probably damaging	Het
Mphosph8	T	A	14: 56,674,259	D246E	probably damaging	Het
Myh14	T	C	7: 44,630,002	E918G	probably damaging	Het
N6amt1	T	C	16: 87,356,198	V52A	probably damaging	Het
Npr2	A	C	4: 43,643,654	T561P	probably damaging	Het
Nudt12	G	A	17: 59,011,037		probably benign	Het
Olfr1054	T	A	2: 86,332,841	R172W	probably damaging	Het
Olfr1151	A	G	2: 87,857,355	Y60C	probably damaging	Het
Olfr287	A	C	15: 98,208,342	V14G	probably damaging	Het
Olfr430	A	T	1: 174,069,466	H56L	possibly damaging	Het
Pan2	A	G	10: 128,318,238	T1050A	probably damaging	Het
Rad17	G	T	13: 100,633,899	D213E	probably benign	Het
Sall2	T	A	14: 52,313,203	H843L	probably benign	Het
Sdk2	C	T	11: 113,838,646		silent	Het
Sema3e	A	T	5: 14,225,655	N258I	probably benign	Het
Siglec1	G	A	2: 131,079,377	R625*	probably null	Het
Slc15a3	T	C	19: 10,855,980	S454P	probably benign	Het
Sp110	G	A	1: 85,589,104		probably benign	Het
Spatc1l	T	C	10: 76,563,907	S88P	probably damaging	Het
Ssh3	A	C	19: 4,266,549	L143R	probably damaging	Het
Ttn	C	T	2: 76,756,996		probably benign	Het
Vps35	A	G	8: 85,279,054	L306S	probably damaging	Het
Zfp729a	T	C	13: 67,619,675	I812V	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
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
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

Predicted Primers

PCR Primer
(F):5'- TGTGGTAAAGGTAGGAGTGCCTCAG -3'
(R):5'- AGGTCAGATCATTCCCACAGCCAG -3'

Sequencing Primer
(F):5'- GTAGGAGTGCCTCAGCTCATTAC -3'
(R):5'- CTGGTTCCCTGAGCAGAAAATTAC -3'

Posted On

2013-11-18