Mutagenetix > Incidental Mutation

Incidental Mutation 'R8431:Eftud2'

653764

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

067776-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8431 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

102838473-102880985 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 102846236 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 573 (A573S)

Ref Sequence

ENSEMBL: ENSMUSP00000102675 (fasta)

Gene Model

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

AlphaFold

O08810

Predicted Effect

probably benign
Transcript: ENSMUST00000021306
AA Change: A574S

PolyPhen 2 Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000021306
Gene: ENSMUSG00000020929
AA Change: A574S

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: A573S

PolyPhen 2 Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000102675
Gene: ENSMUSG00000020929
AA Change: A573S

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 benign
Transcript: ENSMUST00000173679
AA Change: A564S

PolyPhen 2 Score 0.306 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000134327
Gene: ENSMUSG00000020929
AA Change: A564S

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: 99.7%
20x: 98.9%

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb10	A	G	8: 123,968,134	F273S		Het
Abhd14b	G	T	9: 106,451,413	A78S	probably benign	Het
Adamtsl5	G	A	10: 80,345,394	P51L	probably benign	Het
Adap1	A	C	5: 139,273,425	F336V	probably benign	Het
Ankrd33b	T	C	15: 31,305,102	N172S	probably damaging	Het
Arhgap24	A	G	5: 102,892,598	E560G	possibly damaging	Het
Ascc2	A	T	11: 4,664,227		probably null	Het
Bhlhe40	TG	TGG	6: 108,664,857	254	probably null	Het
C130026I21Rik	G	A	1: 85,257,449	H130Y	probably benign	Het
Card6	A	T	15: 5,100,276	F546Y	probably damaging	Het
Cby3	T	G	11: 50,359,257	S2A	probably damaging	Het
Cct3	T	C	3: 88,318,524	S385P	possibly damaging	Het
Cfap65	C	T	1: 74,928,044	G249R	probably benign	Het
Cpne3	C	A	4: 19,526,316	A408S	probably damaging	Het
Ctsr	A	C	13: 61,160,490	L280R	probably damaging	Het
D930048N14Rik	GGG	GGGG	11: 51,651,119		probably null	Het
Dlg4	A	G	11: 70,039,562	I388V	probably benign	Het
Ednrb	T	A	14: 103,843,197	I94F	probably benign	Het
Fsip2	C	A	2: 82,981,566	P2743Q	probably damaging	Het
Gp2	C	T	7: 119,442,787	C505Y	probably benign	Het
Ier5	C	A	1: 155,098,560	D291Y	probably benign	Het
Ifi207	T	C	1: 173,730,504	I223V	unknown	Het
Ifi208	T	C	1: 173,683,278	V333A	possibly damaging	Het
Kank4	T	C	4: 98,779,272	I313V	probably benign	Het
Klhl7	T	C	5: 24,138,475	V263A	possibly damaging	Het
Klrg2	T	C	6: 38,628,187	D314G	probably benign	Het
Lrr1	T	C	12: 69,178,696	M382T	possibly damaging	Het
Ly6e	A	T	15: 74,958,341	Q48L	probably benign	Het
March6	C	T	15: 31,505,746	W43*	probably null	Het
Mepe	A	G	5: 104,338,181	T396A	possibly damaging	Het
Myh8	T	G	11: 67,283,614	L229R	possibly damaging	Het
Ndufa10	C	G	1: 92,452,010		probably null	Het
Nek1	C	A	8: 61,034,032	A272E	possibly damaging	Het
Nr1h2	T	C	7: 44,550,343	Y384C	probably damaging	Het
Olfr1223	C	A	2: 89,144,379	V215F	probably benign	Het
Pcnx3	C	T	19: 5,665,384	G1946E	probably damaging	Het
Phf2	A	G	13: 48,821,602	F294S	unknown	Het
Polr3e	A	T	7: 120,931,305	I173F	probably damaging	Het
Ppfia2	A	T	10: 106,836,091	R464*	probably null	Het
Ppp1r9a	T	A	6: 5,115,456	S860T	probably benign	Het
Rnf144a	T	C	12: 26,327,301	Y93C	probably damaging	Het
Ryr2	T	C	13: 11,659,008	E3390G	probably benign	Het
Scn7a	T	C	2: 66,703,820	T504A	possibly damaging	Het
Slc26a5	T	G	5: 21,813,906	D645A	probably damaging	Het
Ston2	T	A	12: 91,648,297	I446F	probably damaging	Het
Tcp11l1	G	A	2: 104,699,969	P57S	probably damaging	Het
Th	G	T	7: 142,893,064	H488Q	probably benign	Het
Tmprss4	A	T	9: 45,184,363	I61N	probably benign	Het
Wdtc1	A	G	4: 133,322,170		probably null	Het
Xpnpep1	T	C	19: 52,995,506	N596S	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
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'- AACACCTCTTGAATGGCCC -3'
(R):5'- CTCAGATGCCAGGAGTTAGG -3'

Sequencing Primer
(F):5'- TCTTGAATGGCCCGGAATGAC -3'
(R):5'- CCAGGAGTTAGGAGGACTGCC -3'

Posted On

2020-10-20