Mutagenetix > Incidental Mutation

Incidental Mutation 'R8017:Eftud2'

628826

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 #

R8017 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

102838473-102880985 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 102843348 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000102675 (fasta)

Gene Model

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

AlphaFold

O08810

Predicted Effect

probably null
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 null
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 null
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

probably null
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

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 null
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

probably null
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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 98.9%
20x: 95.2%

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
1110065P20Rik	G	T	4: 124,850,676	A51E	unknown	Het
A2ml1	C	T	6: 128,581,447		probably null	Het
Amotl2	C	T	9: 102,723,769	T345I	probably benign	Het
BC067074	T	A	13: 113,319,623	S734R		Het
Bnc2	A	G	4: 84,411,425	L118P		Het
Ccdc18	T	A	5: 108,228,645	Y1317*	probably null	Het
Ccdc93	C	T	1: 121,448,264	T168M	probably damaging	Het
Cd109	G	T	9: 78,707,546	D1292Y	possibly damaging	Het
Cdh24	G	T	14: 54,638,632	N184K	probably damaging	Het
Clpsl2	G	A	17: 28,550,728	G55R	probably damaging	Het
Efemp2	T	A	19: 5,477,680	C181*	probably null	Het
Elp2	G	A	18: 24,606,863	V49M	possibly damaging	Het
Evl	C	T	12: 108,681,524	R295*	probably null	Het
Exph5	G	A	9: 53,373,452	C611Y	probably benign	Het
Gm9376	T	G	14: 118,267,539	Y128D	probably damaging	Het
Gsdmc2	T	A	15: 63,826,913	N278I	probably benign	Het
Hace1	C	T	10: 45,638,382	T199M	probably damaging	Het
Hivep1	T	C	13: 42,167,622	V44A		Het
Homez	A	C	14: 54,858,232	D6E	probably benign	Het
Ighv5-12	A	T	12: 113,702,172	M102K	probably damaging	Het
Jup	T	C	11: 100,374,197	T643A	probably benign	Het
Krt4	T	A	15: 101,920,287	I381F	probably damaging	Het
Krt6a	A	G	15: 101,693,869	V127A	probably damaging	Het
Ldlrad4	G	T	18: 68,235,669	A66S	possibly damaging	Het
Mgea5	A	T	19: 45,773,668	W249R	probably damaging	Het
Mtfr2	A	T	10: 20,354,154	N153Y	probably damaging	Het
Npas3	G	A	12: 54,044,679	V339I	probably damaging	Het
Nsun2	C	T	13: 69,627,645	R438C	probably damaging	Het
Olfr1140	T	A	2: 87,747,048	M284K	probably damaging	Het
Olfr1231	T	A	2: 89,303,251	I114F	possibly damaging	Het
Olfr1297	A	C	2: 111,622,067	D2E	probably benign	Het
Pdzd2	T	C	15: 12,373,036	R2338G	probably damaging	Het
Pgm2	A	G	4: 99,986,678	M553V	probably benign	Het
Pira2	A	T	7: 3,841,697	F445Y	probably benign	Het
Ppp2r5e	A	G	12: 75,464,929	I340T	probably damaging	Het
Qprt	C	A	7: 127,108,824	R145L	probably damaging	Het
Sertad4	T	C	1: 192,846,521	D329G	probably benign	Het
Setd2	C	T	9: 110,602,187	T583M		Het
Slc12a7	T	C	13: 73,799,720	I652T	probably damaging	Het
Slc27a5	T	C	7: 12,989,402	D539G	probably damaging	Het
Slc36a2	A	G	11: 55,164,269	I320T	probably benign	Het
Slc6a20a	A	G	9: 123,637,852	Y524H	probably damaging	Het
Slc6a20a	T	A	9: 123,664,574	S81C	probably damaging	Het
St6gal1	G	A	16: 23,357,835	A393T	probably benign	Het
Stag3	T	C	5: 138,301,203	M828T	possibly damaging	Het
Stk36	T	C	1: 74,612,766	V406A	probably benign	Het
Svep1	G	T	4: 58,146,637	P335Q	probably damaging	Het
Svs5	T	A	2: 164,333,421	S64R	possibly damaging	Het
Taf2	A	G	15: 55,064,617	V130A	possibly damaging	Het
Tbrg4	C	T	11: 6,618,517	V421M	probably damaging	Het
Tbx4	G	T	11: 85,914,160	K358N	probably damaging	Het
Tenm4	A	T	7: 96,704,041	T384S	probably damaging	Het
Tubg1	G	T	11: 101,124,028	A199S	probably benign	Het
Zfp574	T	A	7: 25,080,670	C372*	probably null	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
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'- AGTCATGTGTGTACAGGCTG -3'
(R):5'- ACAGGGATGCATCAGAATTCC -3'

Sequencing Primer
(F):5'- GATGTGGGGTATCTTCCTTCCCATAC -3'
(R):5'- GGATGCATCAGAATTCCCTCAGTAG -3'

Posted On

2020-06-30