Mutagenetix > Incidental Mutation

Incidental Mutation 'R9313:Eftud2'

705730

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 #

R9313 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

102838473-102880985 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 102839436 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 899 (V899A)

Ref Sequence

ENSEMBL: ENSMUSP00000102675 (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 benign
Transcript: ENSMUST00000021306
AA Change: V900A

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000021306
Gene: ENSMUSG00000020929
AA Change: V900A

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
AA Change: V899A

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000102675
Gene: ENSMUSG00000020929
AA Change: V899A

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

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 benign
Transcript: ENSMUST00000173679
AA Change: V890A

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000134327
Gene: ENSMUSG00000020929
AA Change: V890A

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: 99.1%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	T	C	3: 124,413,571	T324A	probably benign	Het
4930452B06Rik	T	A	14: 8,518,635	T274S	probably benign	Het
Aadat	G	A	8: 60,526,601	V166I	probably benign	Het
Abca17	C	T	17: 24,346,233	S75N	probably benign	Het
Adgrb1	A	G	15: 74,539,775	T376A	probably damaging	Het
Atp5o	CTTTGACG	C	16: 91,926,916		probably null	Het
Atp5o	TTTGACGGT	TT	16: 91,926,917		probably null	Het
Car9	A	G	4: 43,507,180	E42G	probably benign	Het
Cep41	T	C	6: 30,680,346	K9R	probably null	Het
Ckm	A	G	7: 19,415,473	T141A	probably benign	Het
Clcc1	G	T	3: 108,674,660	R360S	probably benign	Het
Clcn3	A	C	8: 60,937,469	I146R	probably damaging	Het
Crlf1	A	G	8: 70,498,816	D115G	probably damaging	Het
Dnah1	T	A	14: 31,266,013	I3483F	probably damaging	Het
Dopey1	T	C	9: 86,524,588	*386Q	probably null	Het
Ephx3	C	G	17: 32,189,316	D45H	probably benign	Het
Faap100	A	G	11: 120,376,862	S362P	probably damaging	Het
Fdps	A	T	3: 89,099,348	D78E	probably benign	Het
Fsd1l	T	G	4: 53,694,760	W405G	probably damaging	Het
Fsd1l	T	C	4: 53,701,093	V485A	possibly damaging	Het
Gm12887	C	T	4: 121,616,504	V50M	probably benign	Het
Gm16486	G	A	8: 70,708,704	G182D	probably damaging	Het
Gm45785	T	C	7: 140,818,703	I94V	unknown	Het
Gm8251	A	G	1: 44,057,360	V1526A	probably benign	Het
Hcls1	C	T	16: 36,956,638	A230V	probably benign	Het
Hmcn1	A	C	1: 150,646,592	V3519G	probably benign	Het
Hmgcs1	A	G	13: 119,704,427	Y360C	probably benign	Het
Hsd17b13	A	G	5: 103,965,773		probably null	Het
Ift57	T	A	16: 49,736,722	D235E	possibly damaging	Het
Iltifb	A	G	10: 118,294,233	C89R	probably damaging	Het
Krt9	T	A	11: 100,188,721	Y615F	unknown	Het
Ltbp2	G	A	12: 84,791,090	P1192L	probably benign	Het
Marco	T	C	1: 120,494,085	E130G	probably damaging	Het
Ms4a18	A	T	19: 11,011,440	L184Q	probably damaging	Het
Mtus1	A	T	8: 41,082,886	S598T	probably damaging	Het
Nbeal2	C	A	9: 110,634,368	R1265L	probably damaging	Het
Odf2	G	T	2: 29,926,803	G754C	probably benign	Het
Olfr1131	T	C	2: 87,628,732	S90P	probably benign	Het
Olfr1274-ps	C	A	2: 90,401,573	T304K	probably benign	Het
Olfr164	T	G	16: 19,286,350	Y131S	probably benign	Het
Olfr810	A	T	10: 129,790,920	I223N	probably damaging	Het
Paqr8	G	A	1: 20,934,904	W94*	probably null	Het
Pkd1	G	A	17: 24,594,958	G4132D	probably damaging	Het
Pom121l2	A	G	13: 21,984,336	M926V	probably benign	Het
Postn	A	T	3: 54,365,915	Y79F	probably damaging	Het
Prl7d1	T	C	13: 27,709,199	E242G	probably benign	Het
Rcor3	G	T	1: 192,125,881	H165Q	possibly damaging	Het
Rnf157	A	G	11: 116,359,892	V161A	probably damaging	Het
Rnf38	G	A	4: 44,143,584	T150M	probably damaging	Het
Scn4b	T	A	9: 45,146,715	V35E	probably damaging	Het
Serpina3i	T	C	12: 104,265,413	I103T	probably damaging	Het
Shcbp1	T	A	8: 4,744,518	D425V	probably damaging	Het
Sidt2	T	C	9: 45,941,360	T776A	possibly damaging	Het
Siglecg	A	G	7: 43,412,432	D534G	probably benign	Het
Sipa1l3	T	A	7: 29,378,014	T778S	probably benign	Het
Slc13a1	A	G	6: 24,108,204	V291A	probably benign	Het
Stra6l	A	G	4: 45,881,454	I439V	probably benign	Het
Tdrd7	G	A	4: 46,005,319	S375N	probably benign	Het
Vmn1r192	T	A	13: 22,188,021	I10L	probably benign	Het
Vmn2r34	T	G	7: 7,683,818	L293F	possibly damaging	Het
Xirp2	G	T	2: 67,516,978	A3188S	probably damaging	Het
Zcchc6	A	T	13: 59,799,984	M841K	probably benign	Het
Zfp219	A	G	14: 52,008,743	V309A	probably damaging	Het
Zfp341	C	A	2: 154,627,987	P197T	probably damaging	Het
Zfp628	G	A	7: 4,919,550	R257H	probably benign	Het
Zfp644	T	G	5: 106,636,458	Y741S	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
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
R9604:Eftud2	UTSW	11	102846230	missense	probably benign	0.11
R9664:Eftud2	UTSW	11	102868596	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GGCGAATGACAATGCTCTTG -3'
(R):5'- GGGTCGATATACAACTCTGGC -3'

Sequencing Primer
(F):5'- AGGATCGCCTGGGACAATCTG -3'
(R):5'- GTCGATATACAACTCTGGCCTTGG -3'

Posted On

2022-03-25