Mutagenetix > Incidental Mutation

Incidental Mutation 'R9277:Eftud2'

703388

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9277 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

102838473-102880985 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 102860029 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Valine at position 322 (F322V)

Ref Sequence

ENSEMBL: ENSMUSP00000102675 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021306] [ENSMUST00000107060] [ENSMUST00000138483] [ENSMUST00000173679]

AlphaFold

O08810

Predicted Effect

probably damaging
Transcript: ENSMUST00000021306
AA Change: F323V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000021306
Gene: ENSMUSG00000020929
AA Change: F323V

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 damaging
Transcript: ENSMUST00000107060
AA Change: F322V

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

SMART Domains

Protein: ENSMUSP00000102675
Gene: ENSMUSG00000020929
AA Change: F322V

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: ENSMUST00000138483

Predicted Effect

probably damaging
Transcript: ENSMUST00000173679
AA Change: F313V

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

SMART Domains

Protein: ENSMUSP00000134327
Gene: ENSMUSG00000020929
AA Change: F313V

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (55/55)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	C	11: 109,976,521	Y237C	probably damaging	Het
Adam12	T	C	7: 133,919,832	S566G	probably benign	Het
Afdn	T	A	17: 13,804,008	C59S	probably damaging	Het
Apob	A	T	12: 8,011,183	I3222F	probably benign	Het
Cdyl	A	G	13: 35,858,239	D420G	probably benign	Het
Cela1	C	A	15: 100,683,013	A121S	possibly damaging	Het
Clip2	A	G	5: 134,500,109	M822T	probably benign	Het
Coq8a	G	A	1: 180,179,211	T84I	probably benign	Het
Dars2	G	A	1: 161,049,957	A390V	probably benign	Het
Dhx40	C	T	11: 86,770,230	M744I	probably benign	Het
Dnajc14	A	G	10: 128,806,820	I204V	probably benign	Het
Eif4g2	G	A	7: 111,074,859	A646V	probably damaging	Het
Faim2	T	C	15: 99,521,216	T91A	probably benign	Het
Fam160a1	C	A	3: 85,672,258	R880L	probably benign	Het
Fancl	A	T	11: 26,468,847	I290F	possibly damaging	Het
Fermt3	A	T	19: 7,013,877	Y253N	possibly damaging	Het
Frem3	T	A	8: 80,690,773	S2036T	probably damaging	Het
Gm10330	A	T	12: 23,779,910	V90E	probably damaging	Het
Gm3147	T	C	5: 94,614,984	T60A	probably benign	Het
Gm6509	A	G	5: 94,624,058	T16A	probably benign	Het
Golga1	T	C	2: 39,024,243	E488G	probably benign	Het
Gpatch11	T	A	17: 78,841,017	L128Q	possibly damaging	Het
Hoxd9	A	G	2: 74,699,195	N265S	possibly damaging	Het
Igfn1	C	T	1: 135,959,782	V2515M	probably damaging	Het
Itga2b	A	G	11: 102,461,156	L505P	probably damaging	Het
Klrg2	A	G	6: 38,636,556	S171P	probably benign	Het
Lamtor5	A	G	3: 107,279,088	T58A	probably benign	Het
Lgr6	G	T	1: 134,987,479	C787*	probably null	Het
Madd	A	G	2: 91,175,710	F380S	probably damaging	Het
Magi1	A	T	6: 93,943,253	H127Q	possibly damaging	Het
Maml2	A	G	9: 13,620,576	E362G		Het
Mfsd7a	G	T	5: 108,441,998	P513T	probably benign	Het
Morc2b	C	T	17: 33,136,023	G925D	probably benign	Het
Nalcn	C	T	14: 123,281,111	R1672H	probably damaging	Het
Npsr1	A	G	9: 24,313,197	Y290C	possibly damaging	Het
Obox5	A	T	7: 15,757,952	E97D	probably damaging	Het
Parn	C	T	16: 13,664,655		probably null	Het
Pip4k2b	A	T	11: 97,722,446	N241K	probably damaging	Het
Pkn2	A	G	3: 142,810,748	V539A	probably benign	Het
Plpp7	A	T	2: 32,095,812	M1L	probably damaging	Het
Prtg	G	A	9: 72,809,647	S90N	probably benign	Het
Rgs7bp	G	A	13: 104,964,110	T219M	probably damaging	Het
Scgb1b20	G	A	7: 33,373,573	D69N	probably benign	Het
Setd2	A	G	9: 110,550,551	T1145A	probably damaging	Het
Tmem145	A	G	7: 25,309,740	Q359R	probably benign	Het
Trmt5	C	A	12: 73,282,674	D237Y	probably damaging	Het
Vmn1r169	A	T	7: 23,577,965	I261F	probably benign	Het
Vmn1r19	A	T	6: 57,405,337	I292F	unknown	Het
Vmn2r66	T	C	7: 85,011,956	D22G	probably benign	Het
Vwa3b	T	A	1: 37,157,453		probably null	Het
Wbp4	T	A	14: 79,476,913	D53V	probably benign	Het
Xpo1	A	G	11: 23,291,550	I866V	probably benign	Het
Zan	G	A	5: 137,463,992	P975L	unknown	Het
Zdhhc19	G	A	16: 32,497,694	R89Q	probably benign	Het
Zer1	G	A	2: 30,111,285	T69I	probably benign	Het
Zfp827	C	T	8: 79,060,400	T65I	probably damaging	Het
Zswim9	A	G	7: 13,261,057	F391S	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
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
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'- GATTTGGAGGCTTTTCAAAAGAAGC -3'
(R):5'- CTTTTGGAAGCATGTCAGTGC -3'

Sequencing Primer
(F):5'- GCCTCAAATTTGACAATAAGAGGTG -3'
(R):5'- ATGTCAGTGCTGCAGCG -3'

Posted On

2022-03-25