Mutagenetix > Incidental Mutation

Incidental Mutation 'R6720:Eftud2'

529551

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

044838-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6720 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

102838473-102880985 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 102838623 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 84 (Q84*)

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

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 benign
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: 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 null
Transcript: ENSMUST00000172611
AA Change: Q84*

SMART Domains

Protein: ENSMUSP00000134316
Gene: ENSMUSG00000020929
AA Change: Q84*

Domain	Start	End	E-Value	Type
low complexity region	85	98	N/A	INTRINSIC

Predicted Effect

probably benign
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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 93.6%

Validation Efficiency

98% (50/51)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013G24Rik	G	A	4: 137,454,686	E51K	possibly damaging	Het
Abca1	A	C	4: 53,083,733	L700R	probably damaging	Het
Arpc1a	C	A	5: 145,101,222		probably null	Het
Baz2b	G	T	2: 59,924,890	P241Q	probably damaging	Het
Cd6	T	A	19: 10,794,609	T414S	probably benign	Het
Ces2b	A	T	8: 104,836,869	E409D	probably benign	Het
Cfap54	A	G	10: 92,821,119	Y3024H	probably benign	Het
Chrm1	A	G	19: 8,678,548	T206A	probably benign	Het
Clptm1l	T	C	13: 73,618,516	W512R	probably damaging	Het
Col15a1	T	A	4: 47,247,552		probably null	Het
Cox15	A	G	19: 43,736,789	S392P	probably damaging	Het
Cr2	T	C	1: 195,155,200	M1197V	probably damaging	Het
Ddx60	A	G	8: 62,000,689	K1281E	probably benign	Het
Dnah11	A	G	12: 118,045,646	F2094L	probably damaging	Het
Ear2	T	A	14: 44,102,959	C25S	probably damaging	Het
Ect2l	T	C	10: 18,140,264	D802G	probably damaging	Het
Eif4g3	T	A	4: 138,175,832		probably null	Het
Ephb2	T	C	4: 136,657,502	D866G	probably damaging	Het
Fam129b	T	A	2: 32,905,826	V22D	probably damaging	Het
Farsb	A	G	1: 78,472,497	M99T	probably damaging	Het
Foxs1	T	A	2: 152,932,720	S138C	probably damaging	Het
Frem1	T	G	4: 83,013,832	S211R	probably damaging	Het
Gm19410	G	A	8: 35,807,576	R1517Q	probably benign	Het
Gria2	T	C	3: 80,802,304	I27M	probably benign	Het
H2-Q7	A	G	17: 35,442,678	E299G	probably benign	Het
Hao2	T	G	3: 98,877,135	I305L	probably benign	Het
Hectd4	C	T	5: 121,307,381	Q122*	probably null	Het
Hivep1	T	A	13: 42,164,284	C2079S	probably damaging	Het
Hoxb1	C	A	11: 96,366,987	Q248K	probably damaging	Het
Hspb6	A	G	7: 30,554,347	D95G	probably benign	Het
Ighv5-2	T	A	12: 113,578,506	R117S	probably damaging	Het
Ino80d	A	C	1: 63,058,610	S708R	probably damaging	Het
Lman1l	A	G	9: 57,614,072		probably null	Het
Mmp15	A	G	8: 95,365,314	N51D	probably benign	Het
Naip1	T	C	13: 100,423,077	M1140V	probably benign	Het
Olfr1053	A	G	2: 86,315,065	S74P	probably damaging	Het
Olfr1373	A	G	11: 52,144,693	V279A	probably benign	Het
Olfr397	A	G	11: 73,965,465	N286D	probably damaging	Het
Olfr890	T	A	9: 38,143,153	M1K	probably null	Het
Pard3b	A	T	1: 62,159,470	N239I	probably damaging	Het
Parvb	C	T	15: 84,297,979	R237W	probably damaging	Het
Pcdha9	T	C	18: 36,998,069	S64P	probably damaging	Het
Pdcd1	T	C	1: 94,041,389	N68S	probably benign	Het
Pi4ka	G	T	16: 17,326,052		probably null	Het
Plekha4	A	T	7: 45,540,886	D359V	possibly damaging	Het
Serpinb13	A	G	1: 106,994,062	I78V	probably benign	Het
Slc39a7	T	A	17: 34,030,108	T269S	probably benign	Het
Sltm	T	G	9: 70,573,710	D281E	probably damaging	Het
Zfp708	T	C	13: 67,071,432	Y76C	probably damaging	Het
Zfp990	T	A	4: 145,536,927	V165D	possibly 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
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'- ACCCAGAATATAAGGGCTTGGATC -3'
(R):5'- ATCCCATGTGAGTGAAGGGG -3'

Sequencing Primer
(F):5'- TATAAGGGCTTGGATCAGACGG -3'
(R):5'- GCTGGCAGCTCTAGACTCAAG -3'

Posted On

2018-08-01