Mutagenetix > Incidental Mutation

Incidental Mutation 'R7886:Eftud2'

609076

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

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7886 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

102838473-102880985 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 102840108 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 825 (R825H)

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 damaging
Transcript: ENSMUST00000021306
AA Change: R826H

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

SMART Domains

Protein: ENSMUSP00000021306
Gene: ENSMUSG00000020929
AA Change: R826H

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: R825H

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

SMART Domains

Protein: ENSMUSP00000102675
Gene: ENSMUSG00000020929
AA Change: R825H

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 damaging
Transcript: ENSMUST00000173679
AA Change: R816H

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

SMART Domains

Protein: ENSMUSP00000134327
Gene: ENSMUSG00000020929
AA Change: R816H

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

0.9478

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (53/53)

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
A730049H05Rik	T	G	6: 92,834,456	I130S	unknown	Het
Ano5	A	G	7: 51,570,393	H427R	probably benign	Het
Atad2	A	T	15: 58,126,136	V182E	probably damaging	Het
B4galnt1	T	C	10: 127,167,054	Y147H	probably damaging	Het
C1s2	T	C	6: 124,628,330	S349G	possibly damaging	Het
Ccdc51	G	T	9: 109,091,587	A181S	probably damaging	Het
Dcc	G	A	18: 71,954,868	Q100*	probably null	Het
Dchs2	A	T	3: 83,305,085	I2064F	probably damaging	Het
Depdc1a	G	A	3: 159,516,069	V217I	probably benign	Het
Dnajc7	A	T	11: 100,601,803	F31I	probably benign	Het
Fam184a	T	C	10: 53,675,160	E237G	probably damaging	Het
Fdx1l	A	T	9: 21,073,327		probably null	Het
Frem1	T	C	4: 83,016,406	D106G	possibly damaging	Het
Gabrg3	G	A	7: 56,724,481	R446W	probably damaging	Het
Gm42669	A	G	5: 107,508,706	E362G		Het
Hmcn1	A	T	1: 150,657,470	I3022N	possibly damaging	Het
Ifna2	C	A	4: 88,683,269	V171F	probably damaging	Het
Igsf10	T	C	3: 59,328,327	N1478D	probably benign	Het
Kcnc1	C	A	7: 46,427,621	D282E	probably damaging	Het
Klhdc2	G	A	12: 69,304,632		probably null	Het
Macrod2	G	A	2: 141,724,645	G188S	probably damaging	Het
Mapkbp1	T	C	2: 120,012,647	F186L	possibly damaging	Het
Mettl21a	T	C	1: 64,615,184	E58G	probably damaging	Het
Muc16	A	T	9: 18,585,982	C6625S	probably benign	Het
Naip5	A	T	13: 100,246,181	S7T	probably benign	Het
Nfs1	T	A	2: 156,142,061	D132V	unknown	Het
Nlgn1	T	C	3: 25,435,907	D552G	probably damaging	Het
Numa1	C	T	7: 102,013,865	T2066I	probably benign	Het
Olfr1355	A	G	10: 78,879,823	Y217C	possibly damaging	Het
Olfr330	C	A	11: 58,529,054	V311L	probably benign	Het
Olfr370	T	C	8: 83,541,947	S268P	possibly damaging	Het
Olfr730	A	T	14: 50,186,564	Y219N	probably damaging	Het
Olfr847	A	T	9: 19,375,906		probably null	Het
Pde11a	C	T	2: 76,291,203	V345I	probably benign	Het
Pglyrp2	A	G	17: 32,418,761	S98P	possibly damaging	Het
Pik3c3	C	T	18: 30,319,588	Q643*	probably null	Het
Pold2	T	C	11: 5,872,714	Y402C	probably damaging	Het
Pom121	T	C	5: 135,381,994	T770A	unknown	Het
Pou4f1	A	T	14: 104,466,792	V68E	probably damaging	Het
Ppfia1	G	T	7: 144,519,283	Q265K	probably benign	Het
Pygl	A	G	12: 70,206,356		probably null	Het
Rdh19	A	G	10: 127,850,300	T94A	probably benign	Het
Scgb1b12	A	G	7: 32,334,497	T61A	probably damaging	Het
Sirpb1c	C	T	3: 15,832,202	A337T	probably benign	Het
Sltm	C	G	9: 70,586,673	P802R	possibly damaging	Het
Tbc1d23	T	C	16: 57,189,383	E381G	possibly damaging	Het
Tnik	A	G	3: 28,666,139	I1304V	probably damaging	Het
Tpmt	C	A	13: 47,040,162	G54C	probably damaging	Het
Usp25	A	T	16: 77,113,771	Q905L	probably damaging	Het
Vmn1r91	T	A	7: 20,101,565	N136K	probably benign	Het
Wdr70	C	T	15: 8,079,249	E138K	probably benign	Het
Wrb	T	A	16: 96,145,568	L31Q	possibly damaging	Het
Zbed3	A	G	13: 95,336,125	D19G	possibly damaging	Het
Zfp369	A	G	13: 65,292,054	K184R	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
R6720:Eftud2	UTSW	11	102838623	nonsense	probably null
R7604:Eftud2	UTSW	11	102848012	missense	possibly damaging	0.87
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'- AAACTGTAGCCACTGCCTGTG -3'
(R):5'- TGCCTTCCTCATGGTAAGTGG -3'

Sequencing Primer
(F):5'- GTAGGAGTGCCTCAGCTCATTAC -3'
(R):5'- CTTCCTCATGGTAAGTGGAGTTATAG -3'

Posted On

2019-12-20