Mutagenetix > Incidental Mutation

Incidental Mutation 'R0751:Eftud2'

70346

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

038931-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0751 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

102838473-102880985 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 102839253 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 897 (V897A)

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 damaging
Transcript: ENSMUST00000021306
AA Change: V907A

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

SMART Domains

Protein: ENSMUSP00000021306
Gene: ENSMUSG00000020929
AA Change: V907A

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: V906A

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

SMART Domains

Protein: ENSMUSP00000102675
Gene: ENSMUSG00000020929
AA Change: V906A

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

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 damaging
Transcript: ENSMUST00000173679
AA Change: V897A

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

SMART Domains

Protein: ENSMUSP00000134327
Gene: ENSMUSG00000020929
AA Change: V897A

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

0.8083

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.2%
20x: 94.4%

Validation Efficiency

99% (73/74)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahdc1	T	A	4: 133,065,396	M1316K	probably benign	Het
Alox12	T	C	11: 70,246,950	I455V	probably benign	Het
Ankrd28	A	G	14: 31,764,268	L89P	probably damaging	Het
Aqp9	A	T	9: 71,138,205	C41S	probably damaging	Het
Arhgap17	T	C	7: 123,314,690	Y199C	probably damaging	Het
Aspm	A	T	1: 139,456,898		probably benign	Het
Cacfd1	T	C	2: 27,018,981		probably null	Het
Cd33	T	C	7: 43,532,121	D205G	probably damaging	Het
Chadl	T	C	15: 81,693,057	S198G	probably benign	Het
Chtf8	A	G	8: 106,886,477		probably null	Het
Clec4a4	G	T	6: 123,012,712	W104L	probably benign	Het
Clock	A	T	5: 76,229,361	I696K	possibly damaging	Het
Crtc2	T	A	3: 90,262,633	Y445*	probably null	Het
Dapk1	A	T	13: 60,696,298	I44F	probably damaging	Het
Dcbld2	T	A	16: 58,449,841		probably null	Het
Derl2	T	C	11: 71,014,547		probably null	Het
Dnah7c	A	G	1: 46,465,905	T154A	probably benign	Het
Dnmt3b	T	A	2: 153,674,842		probably null	Het
Dusp3	A	T	11: 101,981,728	S106T	probably benign	Het
Eif3l	T	A	15: 79,075,766		probably null	Het
Fbxo33	A	C	12: 59,219,092	F130V	probably damaging	Het
Ffar3	T	A	7: 30,855,104	N264Y	probably damaging	Het
Fig4	T	C	10: 41,272,982	D158G	probably damaging	Het
Fyco1	A	G	9: 123,819,153	F1239L	probably damaging	Het
Gabra2	A	G	5: 71,092,099		probably benign	Het
Gabra6	C	A	11: 42,315,017	R336S	probably benign	Het
Gm9268	A	G	7: 43,047,409	Y630C	probably damaging	Het
Hkdc1	T	C	10: 62,398,673	D581G	probably damaging	Het
Iqgap1	A	G	7: 80,725,573		probably benign	Het
Larp4b	T	C	13: 9,166,309		probably benign	Het
Lcp1	A	T	14: 75,199,387	M58L	probably benign	Het
Lrrc8a	T	C	2: 30,256,350	V392A	possibly damaging	Het
Mavs	A	T	2: 131,246,764	Y496F	probably damaging	Het
Mpi	A	T	9: 57,550,614	S102T	probably damaging	Het
Mroh9	G	A	1: 163,066,124	R161W	possibly damaging	Het
Myo1h	A	T	5: 114,320,686	S161C	probably damaging	Het
Napg	T	G	18: 62,994,338	H204Q	probably benign	Het
Nelfcd	C	A	2: 174,423,014	A182D	probably benign	Het
Ntsr2	G	T	12: 16,654,030	K91N	probably damaging	Het
Obscn	A	G	11: 59,081,819	S2134P	probably damaging	Het
Ogfod2	G	A	5: 124,113,476		probably benign	Het
Olfr385	G	T	11: 73,589,144	T198K	probably benign	Het
Olfr525	G	A	7: 140,323,325	V209I	probably benign	Het
Pcdha8	T	C	18: 36,994,070	V535A	probably damaging	Het
Pdlim2	C	T	14: 70,164,779	R296H	probably damaging	Het
Pik3r1	T	C	13: 101,686,358		probably null	Het
Pimreg	C	A	11: 72,043,113	Q22K	probably benign	Het
Pld5	A	G	1: 176,044,896	I225T	probably damaging	Het
Plxnc1	T	C	10: 94,831,333		probably benign	Het
Ppip5k2	A	T	1: 97,749,652	C306*	probably null	Het
Ptprc	A	G	1: 138,092,930	Y588H	probably damaging	Het
Rac2	T	G	15: 78,565,945	D65A	possibly damaging	Het
Rgl3	A	G	9: 21,977,380		probably null	Het
Serpinb1a	T	C	13: 32,843,216	K248E	probably benign	Het
Serpinb9e	A	C	13: 33,259,774	E259A	probably benign	Het
Slc12a4	A	T	8: 105,951,900	V266E	probably damaging	Het
Slc8b1	A	G	5: 120,524,195		probably benign	Het
Smim4	G	T	14: 31,088,996		probably benign	Het
Spink6	T	C	18: 44,071,538		probably benign	Het
Spta1	G	A	1: 174,184,690	R354H	probably damaging	Het
Ssb	T	A	2: 69,870,565	S330T	probably benign	Het
Stard9	G	T	2: 120,697,485	V1408F	probably benign	Het
Sumf2	A	T	5: 129,850,005	T61S	probably benign	Het
Sypl2	T	C	3: 108,216,756	T157A	probably damaging	Het
Tgfbr3	A	T	5: 107,139,883	D483E	probably damaging	Het
Tnrc6a	A	G	7: 123,170,340	N451S	possibly damaging	Het
Tradd	T	C	8: 105,259,771	E123G	probably damaging	Het
Trim36	T	C	18: 46,196,251	T41A	probably damaging	Het
Ttc30a2	C	T	2: 75,978,031	A46T	probably damaging	Het
Ttll7	C	T	3: 146,939,991	P535S	probably damaging	Het
Ubr4	C	T	4: 139,437,198		probably benign	Het
Vmn1r195	A	G	13: 22,279,011	Y217C	probably damaging	Het
Vmn2r63	A	C	7: 42,928,035	F360V	probably damaging	Het
Vmn2r78	G	A	7: 86,954,380	V589M	possibly damaging	Het
Vrk2	A	G	11: 26,483,331		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
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

Predicted Primers

PCR Primer
(F):5'- GTGTGCAGAGACTGATCTTTCCTCC -3'
(R):5'- CCATCGACTCATTCGGCTTTGAGAC -3'

Sequencing Primer
(F):5'- GAGACTGATCTTTCCTCCAAGAG -3'
(R):5'- TTCCACCATTGGCAGGTGAG -3'

Posted On

2013-09-30