Mutagenetix > Incidental Mutation

Incidental Mutation 'R9089:Eftud2'

690838

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 #

R9089 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

102838473-102880985 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 102869145 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 125 (S125P)

Ref Sequence

ENSEMBL: ENSMUSP00000102675 (fasta)

Gene Model

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

AlphaFold

O08810

Predicted Effect

probably benign
Transcript: ENSMUST00000021306
AA Change: S126P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000021306
Gene: ENSMUSG00000020929
AA Change: S126P

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: S125P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000102675
Gene: ENSMUSG00000020929
AA Change: S125P

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 benign
Transcript: ENSMUST00000173679
AA Change: S126P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000134327
Gene: ENSMUSG00000020929
AA Change: S126P

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: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (67/67)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700122O11Rik	T	A	17: 48,037,142	R118*	probably null	Het
Acadsb	T	C	7: 131,425,775	V68A	probably damaging	Het
Adgb	T	C	10: 10,442,688	R137G	probably benign	Het
Adgrl3	C	A	5: 81,660,444	N622K	possibly damaging	Het
Ager	C	A	17: 34,600,605	P366T	probably benign	Het
Barx2	C	A	9: 31,854,147	W184L	probably damaging	Het
Bckdha	A	C	7: 25,641,719	N72K	probably benign	Het
Blm	A	T	7: 80,513,119	D161E	probably damaging	Het
Cd96	G	T	16: 46,049,705	T467N	probably benign	Het
Cdk13	A	T	13: 17,803,859	S265T	unknown	Het
Col6a5	A	C	9: 105,888,943	I1926S	probably damaging	Het
Csgalnact2	A	T	6: 118,121,022	V361D	probably damaging	Het
Cstf1	T	A	2: 172,375,887	M140K		Het
Ddx41	A	T	13: 55,535,611	S128T	probably benign	Het
Deaf1	A	T	7: 141,297,552	V554D	probably damaging	Het
Dido1	C	T	2: 180,661,500	S1537N	probably benign	Het
Dmwd	T	C	7: 19,078,055	S145P	probably damaging	Het
Gga1	A	G	15: 78,889,752	D325G	probably damaging	Het
Gm43518	T	C	5: 123,934,266		probably null	Het
Gm6588	A	T	5: 112,450,891	R435W	probably damaging	Het
Got1l1	A	T	8: 27,200,861	V53E	probably damaging	Het
Helz2	A	T	2: 181,239,640	C350S	probably damaging	Het
Ipo7	T	A	7: 110,044,459	F398I	possibly damaging	Het
Itga11	A	G	9: 62,771,380	N943S	probably damaging	Het
Itpa	T	A	2: 130,667,937		probably null	Het
Itpr3	G	A	17: 27,118,677		probably benign	Het
Kbtbd4	A	T	2: 90,907,565	N220Y	possibly damaging	Het
Kdm5b	T	A	1: 134,607,768	F594L	probably damaging	Het
Klhdc4	C	T	8: 121,797,945	V446I	probably benign	Het
Klk1b1	A	G	7: 43,971,244	I253V	possibly damaging	Het
Kynu	T	A	2: 43,599,608	M135K	probably damaging	Het
Lgi1	T	C	19: 38,305,647	I289T	possibly damaging	Het
Lhx2	A	G	2: 38,360,033	N288S	probably damaging	Het
Lrp6	G	C	6: 134,511,206	A309G	probably damaging	Het
Map2	T	A	1: 66,412,939	N329K	probably benign	Het
Med15	G	A	16: 17,655,557	P476L	unknown	Het
Muc16	A	T	9: 18,644,550	N3482K	unknown	Het
Nemf	A	C	12: 69,353,854	V149G	probably damaging	Het
Notch3	T	C	17: 32,151,547	S706G	probably benign	Het
Nphp4	T	C	4: 152,561,216	V1227A	possibly damaging	Het
Olfr391-ps	A	G	11: 73,799,226	F177S	probably damaging	Het
Olfr437	A	T	6: 43,167,983	R308S	probably benign	Het
Olfr814	A	G	10: 129,874,619	L46P	probably damaging	Het
Parp2	A	G	14: 50,814,870	T102A	probably damaging	Het
Pcdhgc3	T	C	18: 37,808,211	V555A	possibly damaging	Het
Plk5	C	G	10: 80,357,996	R40G	probably damaging	Het
Ralgapa1	A	C	12: 55,676,566	L1725R	probably damaging	Het
Reln	G	T	5: 21,925,200	D2704E	probably benign	Het
Sart3	C	A	5: 113,753,695	E405D	possibly damaging	Het
Scin	A	T	12: 40,081,704	L277*	probably null	Het
Sec62	T	A	3: 30,814,234	V204E	probably benign	Het
Serpina3a	T	C	12: 104,119,697	I137T	possibly damaging	Het
Sh3rf1	T	C	8: 61,372,579	M536T	probably benign	Het
Slc45a4	T	C	15: 73,586,104	H532R	probably damaging	Het
Svs2	A	G	2: 164,237,421	F189L	probably benign	Het
Synm	T	C	7: 67,759,018	D204G	probably damaging	Het
Tmtc1	A	T	6: 148,245,717	H827Q	possibly damaging	Het
Tnfrsf25	T	A	4: 152,117,472	C135*	probably null	Het
Unc13b	T	G	4: 43,095,847	I85S	probably damaging	Het
Ush2a	T	A	1: 188,755,177	Y3047*	probably null	Het
Vmn1r75	T	C	7: 11,880,526	S62P	probably damaging	Het
Vps50	T	C	6: 3,536,884	V285A	probably benign	Het
Vwa5b1	T	A	4: 138,569,431	D1095V	probably benign	Het
Zdhhc21	T	A	4: 82,807,055	D208V	probably damaging	Het
Zfp422	A	C	6: 116,627,125		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
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'- GGATGGAATGACACAACGGTTC -3'
(R):5'- TGATCTTGGTTTCCAGCCTG -3'

Sequencing Primer
(F):5'- TGGAATGACACAACGGTTCCATAAG -3'
(R):5'- CCTGTGTTGTCTTGTGAGCACC -3'

Posted On

2021-12-30